Autosomal dominant inheritance of left ventricular outflow tract obstruction
Most nonsyndromic congenital heart malformations (CHMs) in humans are multifactorial in origin, although an increasing number of monogenic cases have been reported recently. We describe here four new families with presumed autosomal dominant inheritance of left ventricular outflow tract obstruction...
Saved in:
| Published in | American journal of medical genetics. Part A Vol. 134A; no. 2; pp. 171 - 179 |
|---|---|
| Main Authors | , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
Hoboken
Wiley Subscription Services, Inc., A Wiley Company
15.04.2005
|
| Subjects | |
| Online Access | Get full text |
| ISSN | 1552-4825 1552-4833 |
| DOI | 10.1002/ajmg.a.30601 |
Cover
| Abstract | Most nonsyndromic congenital heart malformations (CHMs) in humans are multifactorial in origin, although an increasing number of monogenic cases have been reported recently. We describe here four new families with presumed autosomal dominant inheritance of left ventricular outflow tract obstruction (LVOTO), consisting of hypoplastic left heart (HLHS) or left ventricle (HLV), aortic valve stenosis (AS) and bicuspid aortic valve (BAV), hypoplastic aortic arch (HAA), and coarctation of the aorta (CoA). LVOTO in these families shows a wide clinical spectrum with some family members having severe anomalies such as hypoplastic left heart, and others only minor anomalies such as mild aortic valve stenosis. This supports the suggestion that all anomalies of the LVOTO spectrum are developmentally related and can be caused by a single gene defect. © 2005 Wiley‐Liss, Inc. |
|---|---|
| AbstractList | Most nonsyndromic congenital heart malformations (CHMs) in humans are multifactorial in origin, although an increasing number of monogenic cases have been reported recently. We describe here four new families with presumed autosomal dominant inheritance of left ventricular outflow tract obstruction (LVOTO), consisting of hypoplastic left heart (HLHS) or left ventricle (HLV), aortic valve stenosis (AS) and bicuspid aortic valve (BAV), hypoplastic aortic arch (HAA), and coarctation of the aorta (CoA). LVOTO in these families shows a wide clinical spectrum with some family members having severe anomalies such as hypoplastic left heart, and others only minor anomalies such as mild aortic valve stenosis. This supports the suggestion that all anomalies of the LVOTO spectrum are developmentally related and can be caused by a single gene defect. Most nonsyndromic congenital heart malformations (CHMs) in humans are multifactorial in origin, although an increasing number of monogenic cases have been reported recently. We describe here four new families with presumed autosomal dominant inheritance of left ventricular outflow tract obstruction (LVOTO), consisting of hypoplastic left heart (HLHS) or left ventricle (HLV), aortic valve stenosis (AS) and bicuspid aortic valve (BAV), hypoplastic aortic arch (HAA), and coarctation of the aorta (CoA). LVOTO in these families shows a wide clinical spectrum with some family members having severe anomalies such as hypoplastic left heart, and others only minor anomalies such as mild aortic valve stenosis. This supports the suggestion that all anomalies of the LVOTO spectrum are developmentally related and can be caused by a single gene defect.Most nonsyndromic congenital heart malformations (CHMs) in humans are multifactorial in origin, although an increasing number of monogenic cases have been reported recently. We describe here four new families with presumed autosomal dominant inheritance of left ventricular outflow tract obstruction (LVOTO), consisting of hypoplastic left heart (HLHS) or left ventricle (HLV), aortic valve stenosis (AS) and bicuspid aortic valve (BAV), hypoplastic aortic arch (HAA), and coarctation of the aorta (CoA). LVOTO in these families shows a wide clinical spectrum with some family members having severe anomalies such as hypoplastic left heart, and others only minor anomalies such as mild aortic valve stenosis. This supports the suggestion that all anomalies of the LVOTO spectrum are developmentally related and can be caused by a single gene defect. Most nonsyndromic congenital heart malformations (CHMs) in humans are multifactorial in origin, although an increasing number of monogenic cases have been reported recently. We describe here four new families with presumed autosomal dominant inheritance of left ventricular outflow tract obstruction (LVOTO), consisting of hypoplastic left heart (HLHS) or left ventricle (HLV), aortic valve stenosis (AS) and bicuspid aortic valve (BAV), hypoplastic aortic arch (HAA), and coarctation of the aorta (CoA). LVOTO in these families shows a wide clinical spectrum with some family members having severe anomalies such as hypoplastic left heart, and others only minor anomalies such as mild aortic valve stenosis. This supports the suggestion that all anomalies of the LVOTO spectrum are developmentally related and can be caused by a single gene defect. © 2005 Wiley‐Liss, Inc. |
| Author | Wladimiroff, Jury W. Grossfeld, Paul Wessels, Marja W. Mancini, Grazia S. Willems, Patrick J. Roos-Hesselink, Jolien W. Hoogeboom, Jeanette J.M. Berger, Rolf M.F. Frohn-Mulder, Ingrid M.E. Krijger, Ronald de Niermeijer, Martinus F. Bartelings, Margot M. |
| Author_xml | – sequence: 1 givenname: Marja W. surname: Wessels fullname: Wessels, Marja W. email: m.w.wessels@erasmusmc.nl organization: Department of Clinical Genetics, Erasmus University Medical Centre, Rotterdam, The Netherlands – sequence: 2 givenname: Rolf M.F. surname: Berger fullname: Berger, Rolf M.F. organization: Department of Paediatric Cardiology, Sophia Children's Hospital, Rotterdam, The Netherlands – sequence: 3 givenname: Ingrid M.E. surname: Frohn-Mulder fullname: Frohn-Mulder, Ingrid M.E. organization: Department of Paediatric Cardiology, Sophia Children's Hospital, Rotterdam, The Netherlands – sequence: 4 givenname: Jolien W. surname: Roos-Hesselink fullname: Roos-Hesselink, Jolien W. organization: Department of Cardiology, Erasmus University Medical Centre, Rotterdam, The Netherlands – sequence: 5 givenname: Jeanette J.M. surname: Hoogeboom fullname: Hoogeboom, Jeanette J.M. organization: Department of Obstetrics & Gynaecology, Erasmus University Medical Centre, Rotterdam, The Netherlands – sequence: 6 givenname: Grazia S. surname: Mancini fullname: Mancini, Grazia S. organization: Department of Obstetrics & Gynaecology, Erasmus University Medical Centre, Rotterdam, The Netherlands – sequence: 7 givenname: Margot M. surname: Bartelings fullname: Bartelings, Margot M. organization: Department of Anatomy, Leiden University Medical Centre, The Netherlands – sequence: 8 givenname: Ronald de surname: Krijger fullname: Krijger, Ronald de organization: Department of Pathology, Erasmus University Medical Centre, Rotterdam, The Netherlands – sequence: 9 givenname: Jury W. surname: Wladimiroff fullname: Wladimiroff, Jury W. organization: Department of Clinical Genetics, Erasmus University Medical Centre, Rotterdam, The Netherlands – sequence: 10 givenname: Martinus F. surname: Niermeijer fullname: Niermeijer, Martinus F. organization: Department of Clinical Genetics, Erasmus University Medical Centre, Rotterdam, The Netherlands – sequence: 11 givenname: Paul surname: Grossfeld fullname: Grossfeld, Paul organization: Division of Paediatric Cardiology, Children's Hospital San Diego, San Diego, California – sequence: 12 givenname: Patrick J. surname: Willems fullname: Willems, Patrick J. organization: GENDIA, Antwerp, Belgium |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/15712195$$D View this record in MEDLINE/PubMed |
| BookMark | eNqFkU1v1DAQhi1URD_gxhnlxIks_ojtzXG1gm3RFiQE4mhNnAm4OHaxHUr_PdluuweE4OQ5PM9o_L6n5CjEgIQ8Z3TBKOWv4Wr8uoCFoIqyR-SEScnrZinE0WHm8pic5nxFqaBSqyfkmEnNOGvlCdmuphJzHMFXfRxdgFAqF75hcgWCxSoOlcehVD8xlOTs5CFVcSqDjzdVSWBLFbtc0mSLi-EpeTyAz_js_j0jn9---bQ-r7cfNhfr1ba2DeWsVoouVd8DzOcgFaKVbbvExioKrOPIUFKreuy0Rq2YsA2DzvYwDGpgnVYozsjL_d7rFH9MmIsZXbboPQSMUzZKy0ZwRv8Lctpyyls1gy_uwakbsTfXyY2Qbs1DUDPA94BNMeeEg7FzQrtPzyk4bxg1uzbMrg0D5q6NWXr1h3TY-3dc7PEb5_H2n6xZvbvcPFj13nK54K-DBen7nIPQ0nx5vzHyXH_cXK7XRojfyK2sMA |
| CitedBy_id | crossref_primary_10_1097_MOP_0b013e32833e130f crossref_primary_10_1111_j_1748_5827_2011_01187_x crossref_primary_10_1002_ajmg_a_36914 crossref_primary_10_1007_s00398_005_0510_4 crossref_primary_10_1002_ajmg_a_33844 crossref_primary_10_1016_j_jacc_2007_12_031 crossref_primary_10_1055_a_1493_6462 crossref_primary_10_1186_s12887_022_03640_4 crossref_primary_10_1017_S104795111900297X crossref_primary_10_1016_j_bbrc_2010_04_124 crossref_primary_10_1007_s00439_015_1582_1 crossref_primary_10_1177_1089253218821953 crossref_primary_10_1016_j_ijcard_2016_07_114 crossref_primary_10_1161_CIRCULATIONAHA_112_116293 crossref_primary_10_1016_j_ppedcard_2012_05_002 crossref_primary_10_3389_fgene_2018_00729 crossref_primary_10_1002_jgc4_1117 crossref_primary_10_1016_j_jtcvs_2005_08_017 crossref_primary_10_1007_s00392_010_0206_y crossref_primary_10_1016_j_mehy_2005_09_013 crossref_primary_10_7759_cureus_16500 crossref_primary_10_2217_fca_13_40 crossref_primary_10_1111_jocs_12367 crossref_primary_10_1002_ajmg_a_31872 crossref_primary_10_1038_ejhg_2008_255 crossref_primary_10_1161_CIRCGENETICS_114_000526 crossref_primary_10_1161_CIRCULATIONAHA_109_857987 crossref_primary_10_1016_j_ijcard_2014_10_089 crossref_primary_10_1007_s00439_006_0316_9 crossref_primary_10_3390_jcdd9100315 crossref_primary_10_1007_s00246_010_9773_y crossref_primary_10_15420_usc_2019_15_2 crossref_primary_10_1016_j_circv_2014_03_007 crossref_primary_10_1016_j_recesp_2020_05_031 crossref_primary_10_1093_hmg_ddt283 crossref_primary_10_1016_j_ccell_2008_01_008 crossref_primary_10_1007_s00431_006_0295_9 crossref_primary_10_1016_j_paed_2016_12_003 crossref_primary_10_1016_j_ppedcard_2012_08_007 crossref_primary_10_1007_s40142_014_0049_3 crossref_primary_10_1016_j_rec_2020_05_019 crossref_primary_10_1177_1741826711420000 crossref_primary_10_1161_CIRCGENETICS_115_001070 crossref_primary_10_4330_wjc_v12_i5_167 crossref_primary_10_1002_ajmg_a_32594 crossref_primary_10_1002_bdra_20403 crossref_primary_10_1097_01_hco_0000221578_18254_70 crossref_primary_10_1093_cercor_bhab114 |
| Cites_doi | 10.1016/S0022-3476(99)70088-0 10.1136/jmg.39.7.478 10.1074/jbc.M210250200 10.1242/dev.129.19.4613 10.1136/jmg.38.12.e45 10.1136/jmg.33.9.772 10.1242/dev.125.5.813 10.1002/ajmg.1320290117 10.1016/S0735-1097(85)80175-3 10.1161/01.CIR.58.2.354 10.1016/S0929-693X(00)86303-4 10.1002/ajmg.1320430423 10.1016/j.jacc.2003.05.004 10.1016/S0735-1097(03)00420-0 10.1016/S0140-6736(03)14632-6 10.1172/JCI4487 10.1093/oxfordjournals.eurheartj.a059546 10.1017/S1047951100005722 10.1016/S0092-8674(01)00493-7 10.1136/jmg.39.8.554 10.1086/380998 10.1242/dev.129.9.2293 10.1161/01.RES.87.10.888 10.1136/jmg.30.4.328 10.1161/hc4601.098427 10.1111/j.1399-0004.1971.tb00249.x 10.1002/ajmg.1320320208 10.1016/j.mod.2004.04.012 10.1016/0029-7844(96)00178-0 10.1006/dbio.1999.9382 10.1016/j.ydbio.2004.03.026 10.1016/0002-8703(92)90834-I 10.1136/jmg.40.9.704 10.1046/j.1469-0705.1992.02030175.x 10.1136/jmg.13.6.420 10.1161/01.CIR.0000037221.45902.69 10.1002/ajmg.1265 10.1172/JCI118033 10.1038/85845 10.1086/346090 10.1378/chest.66.6.687 10.1016/0167-5273(90)90227-V 10.1161/01.CIR.101.20.2345 10.1242/dev.128.16.3061 10.1002/ajmg.a.30090 10.1016/0002-9149(85)91156-7 10.1002/ajmg.1320260411 10.1016/S0027-5107(01)00160-9 10.1111/j.1399-0004.1976.tb01571.x 10.1038/ng0398-266 10.1259/0007-1285-34-406-670 10.1006/geno.2002.6742 10.1002/(SICI)1096-8628(19961016)65:2<128::AID-AJMG9>3.0.CO;2-O 10.1038/72835 10.1126/science.7892609 10.1242/dev.125.5.825 10.1086/342360 10.1016/0002-9149(73)90810-2 10.1016/S0092-8674(01)00247-1 10.1016/0167-5273(89)90226-X 10.1038/73528 10.1016/S0002-9149(97)89165-5 10.1093/hmg/10.25.2945 10.1038/35065105 10.1086/302184 10.1038/493 10.1006/dbio.1999.9298 10.1016/S0022-3476(98)70119-2 10.1016/S0735-1097(10)80188-3 10.1093/hmg/8.5.723 10.1007/BF02026682 10.1002/ajmg.a.20366 10.1016/S0022-3468(87)80613-9 10.1128/MCB.24.1.96-104.2004 |
| ContentType | Journal Article |
| Copyright | Copyright © 2005 Wiley‐Liss, Inc. (c) 2005 Wiley-Liss, Inc. |
| Copyright_xml | – notice: Copyright © 2005 Wiley‐Liss, Inc. – notice: (c) 2005 Wiley-Liss, Inc. |
| DBID | BSCLL AAYXX CITATION CGR CUY CVF ECM EIF NPM 8FD FR3 P64 RC3 7X8 |
| DOI | 10.1002/ajmg.a.30601 |
| DatabaseName | Istex CrossRef Medline MEDLINE MEDLINE (Ovid) MEDLINE MEDLINE PubMed Technology Research Database Engineering Research Database Biotechnology and BioEngineering Abstracts Genetics Abstracts MEDLINE - Academic |
| DatabaseTitle | CrossRef MEDLINE Medline Complete MEDLINE with Full Text PubMed MEDLINE (Ovid) Genetics Abstracts Engineering Research Database Technology Research Database Biotechnology and BioEngineering Abstracts MEDLINE - Academic |
| DatabaseTitleList | MEDLINE Genetics Abstracts MEDLINE - Academic |
| Database_xml | – sequence: 1 dbid: NPM name: PubMed url: https://proxy.k.utb.cz/login?url=http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed sourceTypes: Index Database – sequence: 2 dbid: EIF name: MEDLINE url: https://proxy.k.utb.cz/login?url=https://www.webofscience.com/wos/medline/basic-search sourceTypes: Index Database |
| DeliveryMethod | fulltext_linktorsrc |
| Discipline | Medicine Biology |
| EISSN | 1552-4833 |
| EndPage | 179 |
| ExternalDocumentID | 15712195 10_1002_ajmg_a_30601 AJMG30601 ark_67375_WNG_5H7RGMCC_3 |
| Genre | article Journal Article Comparative Study |
| GroupedDBID | --- .55 .GA .Y3 05W 0R~ 10A 1L6 1OB 1OC 23M 31~ 33P 3O- 4.4 50Y 51W 51X 52M 52N 52O 52P 52S 52T 52W 52X 53G 5GY 5VS 66C 6P2 702 7PT 8-1 8-4 8-5 8UM 930 A03 AAEVG AAHQN AAMMB AAMNL AANHP AANLZ AAONW AASGY AAXRX AAYCA AAZKR ABCQN ABCUV ABIJN ABJNI ACAHQ ACBWZ ACCZN ACFBH ACGFO ACGFS ACPOU ACPRK ACRPL ACXBN ACXQS ACYXJ ADEOM ADIZJ ADKYN ADMGS ADNMO ADOZA ADXAS ADZMN AEFGJ AEIGN AEIMD AENEX AEUYR AEYWJ AFBPY AFFPM AFGKR AFWVQ AFZJQ AGQPQ AGXDD AGYGG AHBTC AIDQK AIDYY AITYG AIURR ALMA_UNASSIGNED_HOLDINGS ALUQN ALVPJ AMBMR AMYDB ATUGU AZBYB AZFZN BDRZF BFHJK BRXPI BSCLL BY8 C45 CO8 CS3 D-F DCZOG DPXWK DR2 DRFUL DRSTM EBS EJD F00 F01 F04 F5P FEDTE G-S GNP GODZA HBH HGLYW HHY HHZ HVGLF IX1 JPC KQQ L7B LATKE LAW LC2 LC3 LEEKS LH4 LITHE LOXES LP6 LP7 LUTES LYRES MK4 MRFUL MRSTM MSFUL MSSTM MXFUL MXSTM OIG OVD P2W P4D QB0 QRW ROL RX1 SUPJJ TEORI UB1 V2E WIH WIK WJL WQJ X7M XG1 XV2 AAHHS AAYXX ACCFJ ADZOD AEEZP AEQDE AIWBW AJBDE CITATION AEUQT AFPWT CGR CUY CVF ECM EIF NPM RWI WRC 8FD FR3 P64 RC3 7X8 |
| ID | FETCH-LOGICAL-c4021-66086ddaa305e03395998e4c60a1b2e1e50c6deb77e7613c41abcdaff6f1b76e3 |
| IEDL.DBID | DR2 |
| ISSN | 1552-4825 |
| IngestDate | Thu Aug 07 13:50:01 EDT 2025 Fri Sep 05 14:01:00 EDT 2025 Wed Feb 19 01:44:03 EST 2025 Thu Apr 24 23:12:26 EDT 2025 Tue Jul 01 01:49:20 EDT 2025 Sun Sep 21 06:15:52 EDT 2025 Sun Sep 21 06:14:43 EDT 2025 |
| IsPeerReviewed | true |
| IsScholarly | true |
| Issue | 2 |
| Language | English |
| License | http://doi.wiley.com/10.1002/tdm_license_1.1 (c) 2005 Wiley-Liss, Inc. |
| LinkModel | DirectLink |
| MergedId | FETCHMERGED-LOGICAL-c4021-66086ddaa305e03395998e4c60a1b2e1e50c6deb77e7613c41abcdaff6f1b76e3 |
| Notes | ArticleID:AJMG30601 ark:/67375/WNG-5H7RGMCC-3 istex:CF243536A95104487C9EC8CA3A380D40E4B89570 ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 ObjectType-Article-2 ObjectType-Feature-1 |
| PMID | 15712195 |
| PQID | 20920296 |
| PQPubID | 23462 |
| PageCount | 9 |
| ParticipantIDs | proquest_miscellaneous_67543210 proquest_miscellaneous_20920296 pubmed_primary_15712195 crossref_citationtrail_10_1002_ajmg_a_30601 crossref_primary_10_1002_ajmg_a_30601 wiley_primary_10_1002_ajmg_a_30601_AJMG30601 istex_primary_ark_67375_WNG_5H7RGMCC_3 |
| ProviderPackageCode | CITATION AAYXX |
| PublicationCentury | 2000 |
| PublicationDate | 15 April 2005 |
| PublicationDateYYYYMMDD | 2005-04-15 |
| PublicationDate_xml | – month: 04 year: 2005 text: 15 April 2005 day: 15 |
| PublicationDecade | 2000 |
| PublicationPlace | Hoboken |
| PublicationPlace_xml | – name: Hoboken – name: United States |
| PublicationTitle | American journal of medical genetics. Part A |
| PublicationTitleAlternate | Am. J. Med. Genet |
| PublicationYear | 2005 |
| Publisher | Wiley Subscription Services, Inc., A Wiley Company |
| Publisher_xml | – name: Wiley Subscription Services, Inc., A Wiley Company |
| References | Rose V, Gold RJ, Lindsay G, Allen M. 1985. A possible increase in the incidence of congenital heart defects among the offspring of affected parents. J Am Coll Cardiol 6: 376-382. Abu-Issa R, Smyth G, Smoak I, Yamamura K, Meyers EN. 2002. Fgf8 is required for pharyngeal arch and cardiovascular development in the mouse. Development 129: 4613-4625. Huang F, Wagner M, Siddiqui MA. 2004. Ablation of the CLP-1 gene leads to down-regulation of the HAND1 gene and abnormality of the left ventricle of the heart and fetal death. Mech Dev 121: 559-572. Li DY, Faury G, Taylor DG, Davis EC, Boyle WA, Mecham RP, Stenzel P, Boak B, Keating MT. 1998. Novel arterial pathology in mice and humans hemizygous for elastin. J Clin Invest 102: 1783-1787. Loffredo CA, Chokkalingam A, Sill AM, Boughman JA, Clark EB, Scheel J, Brenner JI. 2004. Prevalence of congenital cardiovascular malformations among relatives of infants with hypoplastic left heart, coarctation of the aorta, and d-transposition of the great arteries. Am J Med Genet 124: 225-230. Brice G, Mansour S, Bell R, Collin JR, Child AH, Brady AF, Sarfarazi M, Burnand KG, Jeffery S, Mortimer P, Murday VA. 2002. Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24. J Med Genet 39: 478-483. Lindsay EA, Vitelli F, Su H, Morishima M, Huynh T, Pramparo T, Jurecic V, Ogunrinu G, Sutherland H, Scambler PJF, Bradley A, Baldini A. 2001. Tbx1 haploinsufficiency in the DiGeorge syndrome region causes aortic arch defects in mice. Nature 410: 97-101. Marino B, Digilio MC, Toscano A, Giannotti A, Dallapiccola B. 1999. Congenital heart diseases in children with Noonan syndrome: An expanded cardiac spectrum with high prevalence of atrioventricular canal. J Pediatr 135: 703-706. Stoll C, Alembik Y, Dott B. 1999. Familial coarctation of the aorta in three generations. Ann Genet 42: 174-176. Harh JY, Paul MH, Gallen WJ, Friedberg DZ, Kaplan S. 1973. Experimental production of hypoplastic left heart syndrome in the chick embryo. Am J Cardiol 31: 51-56. Sharland GK, Allan LD. 1992. Normal fetal cardiac measurements derived by cross-sectional echocardiography. Ultrasound Obstet Gynaecol 2: 175-181. Boon AR, Roberts DF. 1976. A family study of coarctation of the aorta. J Med Genet 13: 420-433. Grobman W, Pergament E. 1996. Isolated hypoplastic left heart syndrome in three siblings. Obstet Gynaecol 88: 673-675. Hofstra RMW, Valdenaire O, Arch E, Osinga J, Kroes H, Loffler B-M, Hamosh A, Meijers C, Buys CHCM. 1999. A loss-of-function mutation in the endothelin-converting enzyme 1 (ECE-1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction. Am J Hum Genet 64: 304-308. Mazzanti L, Cacciari E. 1998. Congenital heart disease in patients with Turner's syndrome. Italian Study Group for Turner Syndrome (ISGTS). J Pediatr 133: 688-692. Yagi H, Furutani Y, Hamada H, Sasaki T, Asakawa S, Minoshima S, Ichida F, Joo K, Kimura M, Imamura S, Kamatani N, Momma K, Takao A, Nakazawa M, Shimizu N, Matsuoka R. 2003. Role of TBX1 in human del22q11.2 syndrome. Lancet 362: 1366-1373. Galvin KM, Donovan MJ, Lynch CA, Meyer RI, Paul RJ, Lorenz JN, Fairchild-Huntress V, Dixon KL, Dunmore JH, Gimbrone MA Jr, Falb D, Huszar D. 2000. A role for smad6 in development and homeostasis of the cardiovascular system. Nat Genet 24: 171-174. Grossfeld PD. 1999. The genetics of hypoplastic left heart syndrome. Cardiol Young 9: 627-632. Kurihara Y, Kurihara H, Oda H, Maemura K, Nagai R, Ishikawa T, Yazaki Y. 1995. Aortic arch malformations and ventricular septal defect in mice deficient in endothelin-1. J Clin Invest 96: 293-300. Shokeir MHK. 1971. Hypoplastic left heart syndrome: An autosomal recessive disorder. Clin Genet 2: 7-14. Goldmuntz E, Geiger E, Benson DW. 2001. NKX2.5 mutations in patients with tetralogy of fallot. Circulation 104: 2565-2568. Sletten LJ, Pierpont ME. 1996. Variation in severity of cardiac disease in Holt-Oram syndrome. Am J Med Genet 65: 128-132. Yanagisawa H, Yanagisawa M, Kapur RP, Richardson JA, Williams SC, Clouthier DE, de Wit D, Emoto N, Hammer RE. 1998. Dual genetic pathways of endothelin-mediated intercellular signaling revealed by targeted disruption of endothelin converting enzyme-1 gene. Development 125: 825-826. Dallapiccola B, Giannotti A, Marino B, Digilio C, Obregon G. 1992. Familial aplasia cutis congenita and coarctation of the aorta. Am J Med Genet 43: 762-763. Cough JH. 1961. Coarctation of the aorta in father and son. Brit J Radiol 34: 670-672. Merscher S, Funke B, Epstein JA, Heyer J, Puech A, Lu MM, Xavier RJ, Demay MB, Russell RG, Factor S, Tokooya K, Jore BS, Lopez M, Pandita RK, Lia M, Carrion D, Xu H, Schorle H, Kobler JB, Scambler P, Wynshaw-Boris A, Skoultchi AI, Morrow BE, Kucherlapati R. 2001. TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome. Cell 104: 619-629. Reaume AG, de Sousa PA, Kulkarni S, Langille BL, Zhu D, Davies TC, Juneja SC, Kidder GM, Rossant J. 1995. Cardiac malformation in neonatal mice lacking connexin43. Science 267: 1831-1834. Feiner L, Webber AL, Brown CB, Lu MM, Jia L, Feinstein P, Mombaerts P, Epstein JA, Raper JA. 2001. Targeted disruption of semaphorin 3C leads to persistent truncus arteriosus and aortic arch interruption. Development 128: 3061-3070. Eronen M, Peippo M, Hiippala A, Raatikka M, Arvio M, Johansson R, Kahkonen M. 2002. Cardiovascular manifestations in 75 patients with Williams syndrome. J Med Genet 39: 554-558. Johnson EN, Lee YM, Sander TL, Rabkin E, Schoen FJ, Kaushal S, Bischoff J. 2002. NFATc1 mediates vascular endothelial growth factor (VEGF)-induced proliferation in human pulmonary valve endothelial cells. J Biol Chem 278: 1686-1692. McElhinney DB, Krantz ID, Bason L, Piccoli DA, Emerick KM, Spinner NB, Goldmuntz E. 2002. Analysis of cardiovascular phenotype and genotype-phenotype correlation in individuals with a JAG1 mutation and/or Alagille syndrome. Circulation 106: 2567-2574. Bruel H, Poinsot J, Chabrolle JP, Layet V. 1999. Association of aplasia cutis congenita with coarctation of the aorta: A coincidence? Arch Pediatr 6: 1193-1195. Penny LA, Dell'Aquila M, Jones MC, Bergoffen J, Cunniff C, Fryns J-P, Grace E, Graham JM Jr, Kousseff B, Mattina T, Syme J, Voullaire L, Zelante L, Zenger-Hain J, Jones OW, Evans GA. 1995. Clinical and molecular characterization of patients with distal 11q deletions. Am J Hum Genet 56: 676-683. Gong W, Gottlieb S, Collins J, Blescia A, Dietz H, Goldmuntz E, McDonald-McGinn DM, Zackai EH, Emanuel BS, Driscoll DA, Budarf ML. 2001. Mutation analysis of TBX1 in non-deleted patients with features of DGS/VCFS or isolated cardiovascular defects. J Med Genet 38: e45. Clouthier DE, Hosoda K, Richardson JA, Williams SC, Yanagisawa H, Kuwaki T, Kumada M, Hammer RE, Yanagisawa M. 1998. Cranial and cardiac neural crest defects in endothelin-A receptor-deficient mice. Development 125: 813-824. Simon AB, Zloto AE, Perry BL, Sigmann JM. 1974. Familial aspects of coarctation of the aorta. Chest 66: 687-689. Chen B, Bronson RT, Klaman LD, Hampton TG, Wang JF, Green PJ, Magnuson T, Douglas PS, Morgan JP, Neel BG. 2000. Mice mutant for Egfr and Shp2 have defective cardiac semilunar valvulogenesis. Nat Genet 24: 296-299. Brownell LG, Shokeir MHK. 1976. Inheritance of hypoplastic left heart syndrome (HLHS): Further observations. Clin Genet 9: 245-249. Firulli AB, McFadden DG, Lin Q, Srivastava D, Olson EN. 1998. Heart and extra-embryonic mesodermal defects in mouse embryos lacking the bHLH transcription factor Hand1. Nat Genet 18: 266-270. Phillips HM, Renforth GL, Spalluto C, Hearn T, Curtis AR, Craven L, Havarani B, Clement-Jones M, English C, Stumper O, Salmon T, Hutchinson S, Jackson MS, Wilson DI. 2002. Narrowing the critical region within 11q24-qter for hypoplastic left heart and identification of a candidate gene, JAM3, expressed during cardiogenesis. Genomics 79: 475-478. Xue Y, Gao X, Lindsell CE, Norton CR, Chang B, Hicks C, Gendron-Maguire M, Rand EB, Weinmaster G, Gridley T. 1999. Embryonic lethality and vascular defects in mice lacking the Notch ligand Jagged1. Hum Mol Genet 8: 723-730. Zhou HM, Weskamp G, Chesneau V, Sahin U, Vortkamp A, Horiuchi K, Chiusaroli R, Hahn R, Wilkes D, Fisher P, Baron R, Manova K, Basson CT, Hempstead B, Blobel CP. 2004. Essential role for ADAM19 in cardiovascular morphogenesis. Mol Cell Biol 24: 96-104. Dasgupta C, Martinez AM, Zuppan CW, Shah MM, Bailey LL, Fletcher WH. 2001. Identification of connexin43 (alpha1) gap junction gene mutations in patients with hypoplastic left heart syndrome by denaturing gradient gel electrophoresis (DGGE). Mutat Res 479: 173-186. Allan LD, Sharland G, Tynan MJ. 1989. The natural history of the hypoplastic left heart syndrome. Int J Cardiol 25: 341-343. Paznekas WA, Boyadjiev SA, Shapiro RE, Daniels O, Wollnik B, Keegan CE, Innis JW, Dinulos MB, Christian C, Hannibal MC, Jabs EW. 2003. Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia. Am J Hum Genet 72: 408-418. Jerome LA, Papaioannou VE. 2001. DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1. Nat Genet 27: 286-291. Beekman RH, Robinow M. 1985. Coarctation of the aorta inherited as an autosomal dominant trait. Am J Cardiol 56: 818-819. Danford DA, Cronican P. 1992. Hypoplastic left heart syndrome: progression of left ventricular dilation and dysfunction to left ventricular hypoplasia in utero. Am Heart J 123: 1712-1713. Menahem S. 1990. Familial aggregation of defects of the left-sided structures of the heart. Int J Cardiol 29: 239-240. Nora JJ, Nora AH. 1988. Update on counseling the family with a first-degree relative with a congenital heart defect. Am J Med Genet 29: 137-142. Andelfinger G, Tapper AR, Welch RC, Vanoye CG, George AL Jr, Benson DW. 2002. KCNJ2 mutation results in Andersen syndrome with sex-specific cardiac and skeletal muscle phenotypes. Am J Hum Genet 71: 663-668. McDonald K, Maurer BJ. 1989. Familial aortic valve disease: evid 2001; 100 2004; 121 1991; 17 2004; 124 2000; 87 1992; 123 2002; 278 2004; 24 1999; 42 1961; 34 2001; 104 2001; 106 1996; 77 1996; 33 2004; 129A 1998; 18 2001; 410 2004; 74 1991; 49 1998; 19 1989; 32 1993; 30 2002; 106 1999; 135 1998; 125 1999; 213 1999; 211 1971; 2 1985; 56 1992; 43 2003; 40 2003; 41 2003; 42 1992; 2 1996; 65 2003; 362 2001; 10 2002; 39 1995; 96 1973; 31 2000; 24 1995; 56 2002; 79 1985; 6 1999; 64 1993 2001; 27 1978; 58 1998; 133 1999; 8 2003; 72 1999; 6 1989; 25 1976; 9 2001; 128 1999; 9 1987; 22 1976; 13 1974; 66 1989; 10 1988; 29 1991; 21 1990; 29 2004; 271 2002; 129 2002; 71 2001; 38 1995; 267 2000; 101 1998; 102 1987; 26 2001; 479 1996; 88 Shokeir (10.1002/ajmg.a.30601-BIB69) 1971; 2 Bruel (10.1002/ajmg.a.30601-BIB12) 1999; 6 Gong (10.1002/ajmg.a.30601-BIB34) 2001; 38 Huang (10.1002/ajmg.a.30601-BIB40) 2004; 121 Loffredo (10.1002/ajmg.a.30601-BIB48) 2004; 124 Brownell (10.1002/ajmg.a.30601-BIB11) 1976; 9 Purandare (10.1002/ajmg.a.30601-BIB63) 2002; 129 Bruneau (10.1002/ajmg.a.30601-BIB14) 2001; 106 Cowan (10.1002/ajmg.a.30601-BIB20) 2004; 271 Boon (10.1002/ajmg.a.30601-BIB7) 1976; 13 Biben (10.1002/ajmg.a.30601-BIB6) 2000; 87 Liu (10.1002/ajmg.a.30601-BIB47) 2001; 10 Nora (10.1002/ajmg.a.30601-BIB57) 1988; 29 Pivnick (10.1002/ajmg.a.30601-BIB62) 1996; 33 Ware (10.1002/ajmg.a.30601-BIB73) 2004; 74 Menahem (10.1002/ajmg.a.30601-BIB54) 1990; 29 Johnson (10.1002/ajmg.a.30601-BIB42) 2002; 278 Grossfeld (10.1002/ajmg.a.30601-BIB37) 2004; 129A Gerboni (10.1002/ajmg.a.30601-BIB32) 1993; 30 Lindsay (10.1002/ajmg.a.30601-BIB46) 2001; 410 Merscher (10.1002/ajmg.a.30601-BIB55) 2001; 104 Nishimura (10.1002/ajmg.a.30601-BIB56) 1998; 19 Jerome (10.1002/ajmg.a.30601-BIB41) 2001; 27 Stoll (10.1002/ajmg.a.30601-BIB72) 1999; 42 Bruneau (10.1002/ajmg.a.30601-BIB13) 1999; 211 Sharland (10.1002/ajmg.a.30601-BIB68) 1992; 2 Feiner (10.1002/ajmg.a.30601-BIB27) 2001; 128 Ferencz (10.1002/ajmg.a.30601-BIB28) 1993 Paznekas (10.1002/ajmg.a.30601-BIB59) 2003; 72 Brice (10.1002/ajmg.a.30601-BIB10) 2002; 39 Hofstra (10.1002/ajmg.a.30601-BIB39) 1999; 64 Reaume (10.1002/ajmg.a.30601-BIB64) 1995; 267 Galvin (10.1002/ajmg.a.30601-BIB31) 2000; 24 Andelfinger (10.1002/ajmg.a.30601-BIB3) 2002; 71 Elliott (10.1002/ajmg.a.30601-BIB25) 2003; 41 Xue (10.1002/ajmg.a.30601-BIB75) 1999; 8 Firulli (10.1002/ajmg.a.30601-BIB29) 1998; 18 Simon (10.1002/ajmg.a.30601-BIB70) 1974; 66 Roberts (10.1002/ajmg.a.30601-BIB65) 1991; 17 Harh (10.1002/ajmg.a.30601-BIB38) 1973; 31 Sletten (10.1002/ajmg.a.30601-BIB71) 1996; 65 Rose (10.1002/ajmg.a.30601-BIB66) 1985; 6 Sarkozy (10.1002/ajmg.a.30601-BIB67) 2003; 40 Goldmuntz (10.1002/ajmg.a.30601-BIB33) 2001; 104 McElhinney (10.1002/ajmg.a.30601-BIB53) 2003; 42 Boughman (10.1002/ajmg.a.30601-BIB8) 1991; 49 Zhou (10.1002/ajmg.a.30601-BIB78) 2004; 24 Yanagisawa (10.1002/ajmg.a.30601-BIB77) 1998; 125 Cornel (10.1002/ajmg.a.30601-BIB18) 1987; 22 Cough (10.1002/ajmg.a.30601-BIB19) 1961; 34 Fishman (10.1002/ajmg.a.30601-BIB30) 1978; 58 Grossfeld (10.1002/ajmg.a.30601-BIB36) 1999; 9 Kurihara (10.1002/ajmg.a.30601-BIB43) 1995; 96 Dasgupta (10.1002/ajmg.a.30601-BIB23) 2001; 479 Dallapiccola (10.1002/ajmg.a.30601-BIB21) 1992; 43 McDonald (10.1002/ajmg.a.30601-BIB51) 1989; 10 Nordenberg (10.1002/ajmg.a.30601-BIB58) 1989; 32 Danford (10.1002/ajmg.a.30601-BIB22) 1992; 123 Eronen (10.1002/ajmg.a.30601-BIB26) 2002; 39 Yagi (10.1002/ajmg.a.30601-BIB76) 2003; 362 Penny (10.1002/ajmg.a.30601-BIB60) 1995; 56 Phillips (10.1002/ajmg.a.30601-BIB61) 2002; 79 McElhinney (10.1002/ajmg.a.30601-BIB52) 2002; 106 Allan (10.1002/ajmg.a.30601-BIB2) 1989; 25 Mazzanti (10.1002/ajmg.a.30601-BIB50) 1998; 133 Winnier (10.1002/ajmg.a.30601-BIB74) 1999; 213 Abu-Issa (10.1002/ajmg.a.30601-BIB1) 2002; 129 Marino (10.1002/ajmg.a.30601-BIB49) 1999; 135 Beekman (10.1002/ajmg.a.30601-BIB5) 1985; 56 Clouthier (10.1002/ajmg.a.30601-BIB16) 1998; 125 Boughman (10.1002/ajmg.a.30601-BIB9) 1987; 26 Lee (10.1002/ajmg.a.30601-BIB44) 2000; 101 Li (10.1002/ajmg.a.30601-BIB45) 1998; 102 Grobman (10.1002/ajmg.a.30601-BIB35) 1996; 88 Digilio (10.1002/ajmg.a.30601-BIB24) 2001; 100 Chen (10.1002/ajmg.a.30601-BIB15) 2000; 24 Anderson (10.1002/ajmg.a.30601-BIB4) 1991; 21 Consevage (10.1002/ajmg.a.30601-BIB17) 1996; 77 |
| References_xml | – reference: Firulli AB, McFadden DG, Lin Q, Srivastava D, Olson EN. 1998. Heart and extra-embryonic mesodermal defects in mouse embryos lacking the bHLH transcription factor Hand1. Nat Genet 18: 266-270. – reference: Bruel H, Poinsot J, Chabrolle JP, Layet V. 1999. Association of aplasia cutis congenita with coarctation of the aorta: A coincidence? Arch Pediatr 6: 1193-1195. – reference: Gerboni S, Sabatino G, Mingarelli R, Dallapiccola XX. 1993. Coarctation of the aorta, interrupted aortic arch and hypoplastic left heart syndrome in three generations. J Med Genet 30: 328-329. – reference: Loffredo CA, Chokkalingam A, Sill AM, Boughman JA, Clark EB, Scheel J, Brenner JI. 2004. Prevalence of congenital cardiovascular malformations among relatives of infants with hypoplastic left heart, coarctation of the aorta, and d-transposition of the great arteries. Am J Med Genet 124: 225-230. – reference: McElhinney DB, Krantz ID, Bason L, Piccoli DA, Emerick KM, Spinner NB, Goldmuntz E. 2002. Analysis of cardiovascular phenotype and genotype-phenotype correlation in individuals with a JAG1 mutation and/or Alagille syndrome. Circulation 106: 2567-2574. – reference: Grossfeld PD, Mattina T, Lai Z, Favier R, Jones KL, Cotter F, Jones C. 2004. The 11q terminal deletion disorder: a prospective study of 110 cases. Am J Med Genet 129A(1): 51-61. – reference: Lee TC, Zhao YD, Courtman DW, Stewart DJ. 2000. Abnormal aortic valve development in mice lacking endothelial nitric oxide synthase. Circulation 101: 2345-2348. – reference: Eronen M, Peippo M, Hiippala A, Raatikka M, Arvio M, Johansson R, Kahkonen M. 2002. Cardiovascular manifestations in 75 patients with Williams syndrome. J Med Genet 39: 554-558. – reference: Ferencz C, Rubin JD, Loffredo CA, Magee CA. 1993. Epidemiology of congenital heart disease: The Baltimore-Washington Infant study, 1981-1989. Mt. Kisco, NY: Futura Publishing Co. 45p. – reference: Stoll C, Alembik Y, Dott B. 1999. Familial coarctation of the aorta in three generations. Ann Genet 42: 174-176. – reference: Yanagisawa H, Yanagisawa M, Kapur RP, Richardson JA, Williams SC, Clouthier DE, de Wit D, Emoto N, Hammer RE. 1998. Dual genetic pathways of endothelin-mediated intercellular signaling revealed by targeted disruption of endothelin converting enzyme-1 gene. Development 125: 825-826. – reference: Dallapiccola B, Giannotti A, Marino B, Digilio C, Obregon G. 1992. Familial aplasia cutis congenita and coarctation of the aorta. Am J Med Genet 43: 762-763. – reference: Rose V, Gold RJ, Lindsay G, Allen M. 1985. A possible increase in the incidence of congenital heart defects among the offspring of affected parents. J Am Coll Cardiol 6: 376-382. – reference: Andelfinger G, Tapper AR, Welch RC, Vanoye CG, George AL Jr, Benson DW. 2002. KCNJ2 mutation results in Andersen syndrome with sex-specific cardiac and skeletal muscle phenotypes. Am J Hum Genet 71: 663-668. – reference: Brownell LG, Shokeir MHK. 1976. Inheritance of hypoplastic left heart syndrome (HLHS): Further observations. Clin Genet 9: 245-249. – reference: Winnier GE, Kume T, Deng K, Rogers R, Bundy J, Raines C, Walter MA, Hogan BL, Conway SJ. 1999. Roles for the winged helix transcription factors MF1 and MFH1 in cardiovascular development revealed by nonallelic noncomplementation of null alleles. Dev Biol 213: 418-431. – reference: Gong W, Gottlieb S, Collins J, Blescia A, Dietz H, Goldmuntz E, McDonald-McGinn DM, Zackai EH, Emanuel BS, Driscoll DA, Budarf ML. 2001. Mutation analysis of TBX1 in non-deleted patients with features of DGS/VCFS or isolated cardiovascular defects. J Med Genet 38: e45. – reference: Boughman JA. 1991. Variations of familial risks of congenital cardiovascular malformations (CCVM): Higher risk in left flow defect families. Am J Hum Genet Suppl 49(4): 465. – reference: Merscher S, Funke B, Epstein JA, Heyer J, Puech A, Lu MM, Xavier RJ, Demay MB, Russell RG, Factor S, Tokooya K, Jore BS, Lopez M, Pandita RK, Lia M, Carrion D, Xu H, Schorle H, Kobler JB, Scambler P, Wynshaw-Boris A, Skoultchi AI, Morrow BE, Kucherlapati R. 2001. TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome. Cell 104: 619-629. – reference: Nora JJ, Nora AH. 1988. Update on counseling the family with a first-degree relative with a congenital heart defect. Am J Med Genet 29: 137-142. – reference: Grossfeld PD. 1999. The genetics of hypoplastic left heart syndrome. Cardiol Young 9: 627-632. – reference: Dasgupta C, Martinez AM, Zuppan CW, Shah MM, Bailey LL, Fletcher WH. 2001. Identification of connexin43 (alpha1) gap junction gene mutations in patients with hypoplastic left heart syndrome by denaturing gradient gel electrophoresis (DGGE). Mutat Res 479: 173-186. – reference: Nordenberg DF, Hanna B, Fouron JC, Kaloustian VM. 1989. Atrial septal defect, ventri-cular septal defect and coarctation of the aorta. Am J Med Genet 32: 182-183. – reference: Roberts CS, Roberts WC. 1991. Dissection of the aorta associated with congenital malformation of the aortic valve. J Am Coll Cardiol 17: 712-716. – reference: Zhou HM, Weskamp G, Chesneau V, Sahin U, Vortkamp A, Horiuchi K, Chiusaroli R, Hahn R, Wilkes D, Fisher P, Baron R, Manova K, Basson CT, Hempstead B, Blobel CP. 2004. Essential role for ADAM19 in cardiovascular morphogenesis. Mol Cell Biol 24: 96-104. – reference: Grobman W, Pergament E. 1996. Isolated hypoplastic left heart syndrome in three siblings. Obstet Gynaecol 88: 673-675. – reference: Johnson EN, Lee YM, Sander TL, Rabkin E, Schoen FJ, Kaushal S, Bischoff J. 2002. NFATc1 mediates vascular endothelial growth factor (VEGF)-induced proliferation in human pulmonary valve endothelial cells. J Biol Chem 278: 1686-1692. – reference: Sarkozy A, Conti E, Seripa D, Digilio MC, Grifone N, Tandoi C, Fazio VM, Di Ciommo V, Marino B, Pizzuti A, Dallapiccola B. 2003. Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes. J Med Genet 40: 704-708. – reference: Jerome LA, Papaioannou VE. 2001. DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1. Nat Genet 27: 286-291. – reference: Reaume AG, de Sousa PA, Kulkarni S, Langille BL, Zhu D, Davies TC, Juneja SC, Kidder GM, Rossant J. 1995. Cardiac malformation in neonatal mice lacking connexin43. Science 267: 1831-1834. – reference: Digilio MC, Marino B, Toscano A, Giannotti A, Dallapiccola B. 2001. Congenital heart defects in Kabuki syndrome. Am J Med Genet 100: 269-274. – reference: Sletten LJ, Pierpont ME. 1996. Variation in severity of cardiac disease in Holt-Oram syndrome. Am J Med Genet 65: 128-132. – reference: Paznekas WA, Boyadjiev SA, Shapiro RE, Daniels O, Wollnik B, Keegan CE, Innis JW, Dinulos MB, Christian C, Hannibal MC, Jabs EW. 2003. Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia. Am J Hum Genet 72: 408-418. – reference: Bruneau BG, Nemer G, Schmitt JP, Charron F, Robitaille L, Caron S, Conner DA, Gessler M, Nemer M, Seidman CE, Seidman JG. 2001. A murine model of Holt-Oram syndrome defines roles of the T-box transcription factor Tbx5 in cardiogenesis and disease. Cell 106: 709-721. – reference: Abu-Issa R, Smyth G, Smoak I, Yamamura K, Meyers EN. 2002. Fgf8 is required for pharyngeal arch and cardiovascular development in the mouse. Development 129: 4613-4625. – reference: Clouthier DE, Hosoda K, Richardson JA, Williams SC, Yanagisawa H, Kuwaki T, Kumada M, Hammer RE, Yanagisawa M. 1998. Cranial and cardiac neural crest defects in endothelin-A receptor-deficient mice. Development 125: 813-824. – reference: Consevage MW, Seip JR, Belchis DA, Davis AT, Baylen BG, Rogan PK. 1996. Association of a mosaic chromosomal 22q11 deletion with hypoplastic left heart syndrome. Am J Cardiol 77: 1023-1025. – reference: Fishman NH, Hof RB, Rudolph AM, Heymann MA. 1978. Models of congenital heart defects in fetal lambs. Circulation 58: 354-364. – reference: Nishimura DY, Swiderski RE, Alward WL, Searby CC, Patil SR, Bennet SR, Kanis AB, Gastier JM, Stone EM, Sheffield VC. 1998. The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25. Nat Genet 19: 140-147. – reference: Allan LD, Sharland G, Tynan MJ. 1989. The natural history of the hypoplastic left heart syndrome. Int J Cardiol 25: 341-343. – reference: McElhinney DB, Geiger E, Blinder J, Woodrow Benson D, Goldmuntz E. 2003. Nkx2.5 mutations in patients with congenital heart disease. J Am Coll Cardiol 42: 1650-1655. – reference: Xue Y, Gao X, Lindsell CE, Norton CR, Chang B, Hicks C, Gendron-Maguire M, Rand EB, Weinmaster G, Gridley T. 1999. Embryonic lethality and vascular defects in mice lacking the Notch ligand Jagged1. Hum Mol Genet 8: 723-730. – reference: Galvin KM, Donovan MJ, Lynch CA, Meyer RI, Paul RJ, Lorenz JN, Fairchild-Huntress V, Dixon KL, Dunmore JH, Gimbrone MA Jr, Falb D, Huszar D. 2000. A role for smad6 in development and homeostasis of the cardiovascular system. Nat Genet 24: 171-174. – reference: Marino B, Digilio MC, Toscano A, Giannotti A, Dallapiccola B. 1999. Congenital heart diseases in children with Noonan syndrome: An expanded cardiac spectrum with high prevalence of atrioventricular canal. J Pediatr 135: 703-706. – reference: Yagi H, Furutani Y, Hamada H, Sasaki T, Asakawa S, Minoshima S, Ichida F, Joo K, Kimura M, Imamura S, Kamatani N, Momma K, Takao A, Nakazawa M, Shimizu N, Matsuoka R. 2003. Role of TBX1 in human del22q11.2 syndrome. Lancet 362: 1366-1373. – reference: Penny LA, Dell'Aquila M, Jones MC, Bergoffen J, Cunniff C, Fryns J-P, Grace E, Graham JM Jr, Kousseff B, Mattina T, Syme J, Voullaire L, Zelante L, Zenger-Hain J, Jones OW, Evans GA. 1995. Clinical and molecular characterization of patients with distal 11q deletions. Am J Hum Genet 56: 676-683. – reference: Chen B, Bronson RT, Klaman LD, Hampton TG, Wang JF, Green PJ, Magnuson T, Douglas PS, Morgan JP, Neel BG. 2000. Mice mutant for Egfr and Shp2 have defective cardiac semilunar valvulogenesis. Nat Genet 24: 296-299. – reference: Simon AB, Zloto AE, Perry BL, Sigmann JM. 1974. Familial aspects of coarctation of the aorta. Chest 66: 687-689. – reference: Brice G, Mansour S, Bell R, Collin JR, Child AH, Brady AF, Sarfarazi M, Burnand KG, Jeffery S, Mortimer P, Murday VA. 2002. Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24. J Med Genet 39: 478-483. – reference: Boon AR, Roberts DF. 1976. A family study of coarctation of the aorta. J Med Genet 13: 420-433. – reference: Danford DA, Cronican P. 1992. Hypoplastic left heart syndrome: progression of left ventricular dilation and dysfunction to left ventricular hypoplasia in utero. Am Heart J 123: 1712-1713. – reference: Phillips HM, Renforth GL, Spalluto C, Hearn T, Curtis AR, Craven L, Havarani B, Clement-Jones M, English C, Stumper O, Salmon T, Hutchinson S, Jackson MS, Wilson DI. 2002. Narrowing the critical region within 11q24-qter for hypoplastic left heart and identification of a candidate gene, JAM3, expressed during cardiogenesis. Genomics 79: 475-478. – reference: Pivnick EK, Velagaleti GVN, Wilroy RS, Smith ME, Rose SR, Tipton RE, Tharapel AT. 1996. Jacobson syndrome: Report of a patient with severe eye anomalies, growth hormone deficiency, and hypothyroidism associated with deletion 11(q23q25) and review of 52 cases. J Med Genet 33: 772-778. – reference: Elliott DA, Kirk EP, Yeoh T, Chandar S, McKenzie F, Taylor P, Grossfeld P, Fatkin D, Jones O, Hayes P, Feneley M, Harvey RP. 2003. Cardiac homeobox gene NKX2-5 mutations and congenital heart disease: associations with atrial septal defect and hypoplastic left heart syndrome. J Am Coll Cardiol 41: 2072-2076. – reference: Kurihara Y, Kurihara H, Oda H, Maemura K, Nagai R, Ishikawa T, Yazaki Y. 1995. Aortic arch malformations and ventricular septal defect in mice deficient in endothelin-1. J Clin Invest 96: 293-300. – reference: Menahem S. 1990. Familial aggregation of defects of the left-sided structures of the heart. Int J Cardiol 29: 239-240. – reference: Goldmuntz E, Geiger E, Benson DW. 2001. NKX2.5 mutations in patients with tetralogy of fallot. Circulation 104: 2565-2568. – reference: Mazzanti L, Cacciari E. 1998. Congenital heart disease in patients with Turner's syndrome. Italian Study Group for Turner Syndrome (ISGTS). J Pediatr 133: 688-692. – reference: Beekman RH, Robinow M. 1985. Coarctation of the aorta inherited as an autosomal dominant trait. Am J Cardiol 56: 818-819. – reference: Feiner L, Webber AL, Brown CB, Lu MM, Jia L, Feinstein P, Mombaerts P, Epstein JA, Raper JA. 2001. Targeted disruption of semaphorin 3C leads to persistent truncus arteriosus and aortic arch interruption. Development 128: 3061-3070. – reference: Purandare SM, Ware SM, Kwan KM, Gebbia M, Bassi MT, Deng JM, Vogel H, Behringer RR, Belmont JW, Casey B. 2002. A complex syndrome of left-right axis, central nervous system and axial skeleton defects in Zic3 mutant mice. Development 129: 2293-2302. – reference: Li DY, Faury G, Taylor DG, Davis EC, Boyle WA, Mecham RP, Stenzel P, Boak B, Keating MT. 1998. Novel arterial pathology in mice and humans hemizygous for elastin. J Clin Invest 102: 1783-1787. – reference: Anderson NG, Brown J. 1991. Normal size left ventricle on antenatal scan in lethal hypoplastic left heart syndrome. Pediatr Radiol 21: 436-437. – reference: Cowan CA, Yokoyama N, Saxena A, Chumley MJ, Silvany RE, Baker LA, Srivastava D, Henkemeyer M. 2004. Ephrin-B2 reverse signaling is required for axon pathfinding and cardiac valve formation but not early vascular development. Dev Biol 271: 263-271. – reference: Boughman JA, Berg KA, Astemborski JA, Clark EB, McCarter RJ, Rubin JD, Ferencz C. 1987. Familial risks of congenital heart defect assessed in a population-based epidemiologic study. Am J Med Genet 26: 839-849. – reference: Ware SM, Peng J, Zhu L, Fernbach S, Colicos S, Casey B, Towbin J, Belmont JW. 2004. Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects. Am J Hum Genet 74: 93-105. – reference: Sharland GK, Allan LD. 1992. Normal fetal cardiac measurements derived by cross-sectional echocardiography. Ultrasound Obstet Gynaecol 2: 175-181. – reference: Harh JY, Paul MH, Gallen WJ, Friedberg DZ, Kaplan S. 1973. Experimental production of hypoplastic left heart syndrome in the chick embryo. Am J Cardiol 31: 51-56. – reference: Shokeir MHK. 1971. Hypoplastic left heart syndrome: An autosomal recessive disorder. Clin Genet 2: 7-14. – reference: Bruneau BG, Logan M, Davis N, Levi T, Tabin CJ, Seidman JG, Seidman CE. 1999. Chamber-specific cardiac expression of Tbx5 and heart defects in Holt-Oram syndrome. Dev Biol 211: 100-108. – reference: Liu XZ, Xia XJ, Adams J, Chen ZY, Welch KO, Tekin M, Ouyang XM, Kristiansen A, Pandya A, Balkany T, Arnos KS, Nance WE. 2001. Mutations in GJA1 (connexin 43) are associated with non-syndromic autosomal recessive deafness. Hum Mol Genet 10: 2945-2951. – reference: McDonald K, Maurer BJ. 1989. Familial aortic valve disease: evidence for a genetic influence? Eur Heart J 10: 676-677. – reference: Cough JH. 1961. Coarctation of the aorta in father and son. Brit J Radiol 34: 670-672. – reference: Biben C, Weber R, Kesteven S, Stanley E, McDonald L, Elliott DA, Barnett L, Koentgen F, Robb L, Feneley M, Harvey RP. 2000. Cardiac septal and valvular dysmorphogenesis in mice heterozygous for mutations in the homeobox gene Nkx2.5. Circ Res 87: 888-895. – reference: Cornel G, Sharratt GP, Virmani S, Rosales T, Lacson A. 1987. Familial coarctation of the aortic arch with bilateral ptosis: a new syndrome? J Pediatr Surg 22: 724-726. – reference: Hofstra RMW, Valdenaire O, Arch E, Osinga J, Kroes H, Loffler B-M, Hamosh A, Meijers C, Buys CHCM. 1999. A loss-of-function mutation in the endothelin-converting enzyme 1 (ECE-1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction. Am J Hum Genet 64: 304-308. – reference: Huang F, Wagner M, Siddiqui MA. 2004. Ablation of the CLP-1 gene leads to down-regulation of the HAND1 gene and abnormality of the left ventricle of the heart and fetal death. Mech Dev 121: 559-572. – reference: Lindsay EA, Vitelli F, Su H, Morishima M, Huynh T, Pramparo T, Jurecic V, Ogunrinu G, Sutherland H, Scambler PJF, Bradley A, Baldini A. 2001. Tbx1 haploinsufficiency in the DiGeorge syndrome region causes aortic arch defects in mice. Nature 410: 97-101. – volume: 101 start-page: 2345 year: 2000 end-page: 2348 article-title: Abnormal aortic valve development in mice lacking endothelial nitric oxide synthase publication-title: Circulation – volume: 479 start-page: 173 year: 2001 end-page: 186 article-title: Identification of connexin43 (alpha1) gap junction gene mutations in patients with hypoplastic left heart syndrome by denaturing gradient gel electrophoresis (DGGE) publication-title: Mutat Res – volume: 100 start-page: 269 year: 2001 end-page: 274 article-title: Congenital heart defects in Kabuki syndrome publication-title: Am J Med Genet – volume: 121 start-page: 559 year: 2004 end-page: 572 article-title: Ablation of the CLP‐1 gene leads to down‐regulation of the HAND1 gene and abnormality of the left ventricle of the heart and fetal death publication-title: Mech Dev – volume: 33 start-page: 772 year: 1996 end-page: 778 article-title: Jacobson syndrome: Report of a patient with severe eye anomalies, growth hormone deficiency, and hypothyroidism associated with deletion 11(q23q25) and review of 52 cases publication-title: J Med Genet – volume: 278 start-page: 1686 year: 2002 end-page: 1692 article-title: NFATc1 mediates vascular endothelial growth factor (VEGF)‐induced proliferation in human pulmonary valve endothelial cells publication-title: J Biol Chem – volume: 26 start-page: 839 year: 1987 end-page: 849 article-title: Familial risks of congenital heart defect assessed in a population‐based epidemiologic study publication-title: Am J Med Genet – volume: 22 start-page: 724 year: 1987 end-page: 726 article-title: Familial coarctation of the aortic arch with bilateral ptosis: a new syndrome? publication-title: J Pediatr Surg – volume: 30 start-page: 328 year: 1993 end-page: 329 article-title: Coarctation of the aorta, interrupted aortic arch and hypoplastic left heart syndrome in three generations publication-title: J Med Genet – volume: 9 start-page: 627 year: 1999 end-page: 632 article-title: The genetics of hypoplastic left heart syndrome publication-title: Cardiol Young – volume: 72 start-page: 408 year: 2003 end-page: 418 article-title: Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia publication-title: Am J Hum Genet – volume: 2 start-page: 175 year: 1992 end-page: 181 article-title: Normal fetal cardiac measurements derived by cross‐sectional echocardiography publication-title: Ultrasound Obstet Gynaecol – volume: 271 start-page: 263 year: 2004 end-page: 271 article-title: Ephrin‐B2 reverse signaling is required for axon pathfinding and cardiac valve formation but not early vascular development publication-title: Dev Biol – volume: 96 start-page: 293 year: 1995 end-page: 300 article-title: Aortic arch malformations and ventricular septal defect in mice deficient in endothelin‐1 publication-title: J Clin Invest – volume: 65 start-page: 128 year: 1996 end-page: 132 article-title: Variation in severity of cardiac disease in Holt‐Oram syndrome publication-title: Am J Med Genet – volume: 410 start-page: 97 year: 2001 end-page: 101 article-title: Tbx1 haploinsufficiency in the DiGeorge syndrome region causes aortic arch defects in mice publication-title: Nature – volume: 71 start-page: 663 year: 2002 end-page: 668 article-title: KCNJ2 mutation results in Andersen syndrome with sex‐specific cardiac and skeletal muscle phenotypes publication-title: Am J Hum Genet – volume: 125 start-page: 813 year: 1998 end-page: 824 article-title: Cranial and cardiac neural crest defects in endothelin‐A receptor‐deficient mice publication-title: Development – volume: 27 start-page: 286 year: 2001 end-page: 291 article-title: DiGeorge syndrome phenotype in mice mutant for the T‐box gene, Tbx1 publication-title: Nat Genet – volume: 129A start-page: 51 issue: 1 year: 2004 end-page: 61 article-title: The 11q terminal deletion disorder: a prospective study of 110 cases publication-title: Am J Med Genet – volume: 29 start-page: 137 year: 1988 end-page: 142 article-title: Update on counseling the family with a first‐degree relative with a congenital heart defect publication-title: Am J Med Genet – volume: 56 start-page: 818 year: 1985 end-page: 819 article-title: Coarctation of the aorta inherited as an autosomal dominant trait publication-title: Am J Cardiol – volume: 39 start-page: 478 year: 2002 end-page: 483 article-title: Analysis of the phenotypic abnormalities in lymphoedema‐distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24 publication-title: J Med Genet – volume: 49 start-page: 465 issue: 4 year: 1991 article-title: Variations of familial risks of congenital cardiovascular malformations (CCVM): Higher risk in left flow defect families publication-title: Am J Hum Genet Suppl – volume: 58 start-page: 354 year: 1978 end-page: 364 article-title: Models of congenital heart defects in fetal lambs publication-title: Circulation – volume: 42 start-page: 1650 year: 2003 end-page: 1655 article-title: Nkx2.5 mutations in patients with congenital heart disease publication-title: J Am Coll Cardiol – volume: 6 start-page: 376 year: 1985 end-page: 382 article-title: A possible increase in the incidence of congenital heart defects among the offspring of affected parents publication-title: J Am Coll Cardiol – volume: 128 start-page: 3061 year: 2001 end-page: 3070 article-title: Targeted disruption of semaphorin 3C leads to persistent truncus arteriosus and aortic arch interruption publication-title: Development – volume: 24 start-page: 296 year: 2000 end-page: 299 article-title: Mice mutant for Egfr and Shp2 have defective cardiac semilunar valvulogenesis publication-title: Nat Genet – volume: 39 start-page: 554 year: 2002 end-page: 558 article-title: Cardiovascular manifestations in 75 patients with Williams syndrome publication-title: J Med Genet – volume: 106 start-page: 709 year: 2001 end-page: 721 article-title: A murine model of Holt‐Oram syndrome defines roles of the T‐box transcription factor Tbx5 in cardiogenesis and disease publication-title: Cell – volume: 267 start-page: 1831 year: 1995 end-page: 1834 article-title: Cardiac malformation in neonatal mice lacking connexin43 publication-title: Science – volume: 21 start-page: 436 year: 1991 end-page: 437 article-title: Normal size left ventricle on antenatal scan in lethal hypoplastic left heart syndrome publication-title: Pediatr Radiol – volume: 79 start-page: 475 year: 2002 end-page: 478 article-title: Narrowing the critical region within 11q24‐qter for hypoplastic left heart and identification of a candidate gene, JAM3, expressed during cardiogenesis publication-title: Genomics – volume: 64 start-page: 304 year: 1999 end-page: 308 article-title: A loss‐of‐function mutation in the endothelin‐converting enzyme 1 (ECE‐1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction publication-title: Am J Hum Genet – volume: 102 start-page: 1783 year: 1998 end-page: 1787 article-title: Novel arterial pathology in mice and humans hemizygous for elastin publication-title: J Clin Invest – volume: 77 start-page: 1023 year: 1996 end-page: 1025 article-title: Association of a mosaic chromosomal 22q11 deletion with hypoplastic left heart syndrome publication-title: Am J Cardiol – volume: 24 start-page: 171 year: 2000 end-page: 174 article-title: A role for smad6 in development and homeostasis of the cardiovascular system publication-title: Nat Genet – volume: 74 start-page: 93 year: 2004 end-page: 105 article-title: Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects publication-title: Am J Hum Genet – volume: 135 start-page: 703 year: 1999 end-page: 706 article-title: Congenital heart diseases in children with Noonan syndrome: An expanded cardiac spectrum with high prevalence of atrioventricular canal publication-title: J Pediatr – volume: 56 start-page: 676 year: 1995 end-page: 683 article-title: Clinical and molecular characterization of patients with distal 11q deletions publication-title: Am J Hum Genet – volume: 25 start-page: 341 year: 1989 end-page: 343 article-title: The natural history of the hypoplastic left heart syndrome publication-title: Int J Cardiol – volume: 10 start-page: 2945 year: 2001 end-page: 2951 article-title: Mutations in GJA1 (connexin 43) are associated with non‐syndromic autosomal recessive deafness publication-title: Hum Mol Genet – volume: 8 start-page: 723 year: 1999 end-page: 730 article-title: Embryonic lethality and vascular defects in mice lacking the Notch ligand Jagged1 publication-title: Hum Mol Genet – volume: 125 start-page: 825 year: 1998 end-page: 826 article-title: Dual genetic pathways of endothelin‐mediated intercellular signaling revealed by targeted disruption of endothelin converting enzyme‐1 gene publication-title: Development – volume: 31 start-page: 51 year: 1973 end-page: 56 article-title: Experimental production of hypoplastic left heart syndrome in the chick embryo publication-title: Am J Cardiol – volume: 19 start-page: 140 year: 1998 end-page: 147 article-title: The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25 publication-title: Nat Genet – volume: 10 start-page: 676 year: 1989 end-page: 677 article-title: Familial aortic valve disease: evidence for a genetic influence? publication-title: Eur Heart J – volume: 6 start-page: 1193 year: 1999 end-page: 1195 article-title: Association of aplasia cutis congenita with coarctation of the aorta: A coincidence? publication-title: Arch Pediatr – volume: 104 start-page: 619 year: 2001 end-page: 629 article-title: TBX1 is responsible for cardiovascular defects in velo‐cardio‐facial/DiGeorge syndrome publication-title: Cell – volume: 13 start-page: 420 year: 1976 end-page: 433 article-title: A family study of coarctation of the aorta publication-title: J Med Genet – volume: 213 start-page: 418 year: 1999 end-page: 431 article-title: Roles for the winged helix transcription factors MF1 and MFH1 in cardiovascular development revealed by nonallelic noncomplementation of null alleles publication-title: Dev Biol – volume: 34 start-page: 670 year: 1961 end-page: 672 article-title: Coarctation of the aorta in father and son publication-title: Brit J Radiol – volume: 66 start-page: 687 year: 1974 end-page: 689 article-title: Familial aspects of coarctation of the aorta publication-title: Chest – volume: 129 start-page: 4613 year: 2002 end-page: 4625 article-title: Fgf8 is required for pharyngeal arch and cardiovascular development in the mouse publication-title: Development – volume: 9 start-page: 245 year: 1976 end-page: 249 article-title: Inheritance of hypoplastic left heart syndrome (HLHS): Further observations publication-title: Clin Genet – volume: 38 start-page: e45 year: 2001 article-title: Mutation analysis of TBX1 in non‐deleted patients with features of DGS/VCFS or isolated cardiovascular defects publication-title: J Med Genet – volume: 106 start-page: 2567 year: 2002 end-page: 2574 article-title: Analysis of cardiovascular phenotype and genotype‐phenotype correlation in individuals with a JAG1 mutation and/or Alagille syndrome publication-title: Circulation – volume: 362 start-page: 1366 year: 2003 end-page: 1373 article-title: Role of TBX1 in human del22q11.2 syndrome publication-title: Lancet – volume: 18 start-page: 266 year: 1998 end-page: 270 article-title: Heart and extra‐embryonic mesodermal defects in mouse embryos lacking the bHLH transcription factor Hand1 publication-title: Nat Genet – volume: 133 start-page: 688 year: 1998 end-page: 692 article-title: Congenital heart disease in patients with Turner's syndrome. Italian Study Group for Turner Syndrome (ISGTS) publication-title: J Pediatr – volume: 24 start-page: 96 year: 2004 end-page: 104 article-title: Essential role for ADAM19 in cardiovascular morphogenesis publication-title: Mol Cell Biol – volume: 104 start-page: 2565 year: 2001 end-page: 2568 article-title: NKX2.5 mutations in patients with tetralogy of fallot publication-title: Circulation – volume: 124 start-page: 225 year: 2004 end-page: 230 article-title: Prevalence of congenital cardiovascular malformations among relatives of infants with hypoplastic left heart, coarctation of the aorta, and d‐transposition of the great arteries publication-title: Am J Med Genet – volume: 2 start-page: 7 year: 1971 end-page: 14 article-title: Hypoplastic left heart syndrome: An autosomal recessive disorder publication-title: Clin Genet – volume: 41 start-page: 2072 year: 2003 end-page: 2076 article-title: Cardiac homeobox gene NKX2‐5 mutations and congenital heart disease: associations with atrial septal defect and hypoplastic left heart syndrome publication-title: J Am Coll Cardiol – volume: 40 start-page: 704 year: 2003 end-page: 708 article-title: Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes publication-title: J Med Genet – volume: 87 start-page: 888 year: 2000 end-page: 895 article-title: Cardiac septal and valvular dysmorphogenesis in mice heterozygous for mutations in the homeobox gene Nkx2.5 publication-title: Circ Res – volume: 211 start-page: 100 year: 1999 end-page: 108 article-title: Chamber‐specific cardiac expression of Tbx5 and heart defects in Holt‐Oram syndrome publication-title: Dev Biol – volume: 29 start-page: 239 year: 1990 end-page: 240 article-title: Familial aggregation of defects of the left‐sided structures of the heart publication-title: Int J Cardiol – volume: 32 start-page: 182 year: 1989 end-page: 183 article-title: Atrial septal defect, ventri‐cular septal defect and coarctation of the aorta publication-title: Am J Med Genet – start-page: 45p year: 1993 – volume: 129 start-page: 2293 year: 2002 end-page: 2302 article-title: A complex syndrome of left‐right axis, central nervous system and axial skeleton defects in Zic3 mutant mice publication-title: Development – volume: 17 start-page: 712 year: 1991 end-page: 716 article-title: Dissection of the aorta associated with congenital malformation of the aortic valve publication-title: J Am Coll Cardiol – volume: 42 start-page: 174 year: 1999 end-page: 176 article-title: Familial coarctation of the aorta in three generations publication-title: Ann Genet – volume: 43 start-page: 762 year: 1992 end-page: 763 article-title: Familial aplasia cutis congenita and coarctation of the aorta publication-title: Am J Med Genet – volume: 123 start-page: 1712 year: 1992 end-page: 1713 article-title: Hypoplastic left heart syndrome: progression of left ventricular dilation and dysfunction to left ventricular hypoplasia in utero publication-title: Am Heart J – volume: 88 start-page: 673 year: 1996 end-page: 675 article-title: Isolated hypoplastic left heart syndrome in three siblings publication-title: Obstet Gynaecol – volume: 135 start-page: 703 year: 1999 ident: 10.1002/ajmg.a.30601-BIB49 publication-title: J Pediatr doi: 10.1016/S0022-3476(99)70088-0 – volume: 39 start-page: 478 year: 2002 ident: 10.1002/ajmg.a.30601-BIB10 publication-title: J Med Genet doi: 10.1136/jmg.39.7.478 – volume: 278 start-page: 1686 year: 2002 ident: 10.1002/ajmg.a.30601-BIB42 publication-title: J Biol Chem doi: 10.1074/jbc.M210250200 – volume: 129 start-page: 4613 year: 2002 ident: 10.1002/ajmg.a.30601-BIB1 publication-title: Development doi: 10.1242/dev.129.19.4613 – volume: 38 start-page: e45 year: 2001 ident: 10.1002/ajmg.a.30601-BIB34 publication-title: J Med Genet doi: 10.1136/jmg.38.12.e45 – volume: 33 start-page: 772 year: 1996 ident: 10.1002/ajmg.a.30601-BIB62 publication-title: J Med Genet doi: 10.1136/jmg.33.9.772 – volume: 125 start-page: 813 year: 1998 ident: 10.1002/ajmg.a.30601-BIB16 publication-title: Development doi: 10.1242/dev.125.5.813 – volume: 29 start-page: 137 year: 1988 ident: 10.1002/ajmg.a.30601-BIB57 publication-title: Am J Med Genet doi: 10.1002/ajmg.1320290117 – volume: 6 start-page: 376 year: 1985 ident: 10.1002/ajmg.a.30601-BIB66 publication-title: J Am Coll Cardiol doi: 10.1016/S0735-1097(85)80175-3 – volume: 58 start-page: 354 year: 1978 ident: 10.1002/ajmg.a.30601-BIB30 publication-title: Circulation doi: 10.1161/01.CIR.58.2.354 – volume: 6 start-page: 1193 year: 1999 ident: 10.1002/ajmg.a.30601-BIB12 publication-title: Arch Pediatr doi: 10.1016/S0929-693X(00)86303-4 – volume: 43 start-page: 762 year: 1992 ident: 10.1002/ajmg.a.30601-BIB21 publication-title: Am J Med Genet doi: 10.1002/ajmg.1320430423 – volume: 42 start-page: 1650 year: 2003 ident: 10.1002/ajmg.a.30601-BIB53 publication-title: J Am Coll Cardiol doi: 10.1016/j.jacc.2003.05.004 – volume: 41 start-page: 2072 year: 2003 ident: 10.1002/ajmg.a.30601-BIB25 publication-title: J Am Coll Cardiol doi: 10.1016/S0735-1097(03)00420-0 – volume: 362 start-page: 1366 year: 2003 ident: 10.1002/ajmg.a.30601-BIB76 publication-title: Lancet doi: 10.1016/S0140-6736(03)14632-6 – volume: 102 start-page: 1783 year: 1998 ident: 10.1002/ajmg.a.30601-BIB45 publication-title: J Clin Invest doi: 10.1172/JCI4487 – volume: 10 start-page: 676 year: 1989 ident: 10.1002/ajmg.a.30601-BIB51 publication-title: Eur Heart J doi: 10.1093/oxfordjournals.eurheartj.a059546 – volume: 9 start-page: 627 year: 1999 ident: 10.1002/ajmg.a.30601-BIB36 publication-title: Cardiol Young doi: 10.1017/S1047951100005722 – volume: 106 start-page: 709 year: 2001 ident: 10.1002/ajmg.a.30601-BIB14 publication-title: Cell doi: 10.1016/S0092-8674(01)00493-7 – volume: 39 start-page: 554 year: 2002 ident: 10.1002/ajmg.a.30601-BIB26 publication-title: J Med Genet doi: 10.1136/jmg.39.8.554 – volume: 74 start-page: 93 year: 2004 ident: 10.1002/ajmg.a.30601-BIB73 publication-title: Am J Hum Genet doi: 10.1086/380998 – volume: 129 start-page: 2293 year: 2002 ident: 10.1002/ajmg.a.30601-BIB63 publication-title: Development doi: 10.1242/dev.129.9.2293 – volume: 87 start-page: 888 year: 2000 ident: 10.1002/ajmg.a.30601-BIB6 publication-title: Circ Res doi: 10.1161/01.RES.87.10.888 – volume: 30 start-page: 328 year: 1993 ident: 10.1002/ajmg.a.30601-BIB32 publication-title: J Med Genet doi: 10.1136/jmg.30.4.328 – volume: 104 start-page: 2565 year: 2001 ident: 10.1002/ajmg.a.30601-BIB33 publication-title: Circulation doi: 10.1161/hc4601.098427 – volume: 2 start-page: 7 year: 1971 ident: 10.1002/ajmg.a.30601-BIB69 publication-title: Clin Genet doi: 10.1111/j.1399-0004.1971.tb00249.x – volume: 32 start-page: 182 year: 1989 ident: 10.1002/ajmg.a.30601-BIB58 publication-title: Am J Med Genet doi: 10.1002/ajmg.1320320208 – volume: 121 start-page: 559 year: 2004 ident: 10.1002/ajmg.a.30601-BIB40 publication-title: Mech Dev doi: 10.1016/j.mod.2004.04.012 – volume: 88 start-page: 673 year: 1996 ident: 10.1002/ajmg.a.30601-BIB35 publication-title: Obstet Gynaecol doi: 10.1016/0029-7844(96)00178-0 – volume: 213 start-page: 418 year: 1999 ident: 10.1002/ajmg.a.30601-BIB74 publication-title: Dev Biol doi: 10.1006/dbio.1999.9382 – volume: 49 start-page: 465 year: 1991 ident: 10.1002/ajmg.a.30601-BIB8 publication-title: Am J Hum Genet Suppl – volume: 271 start-page: 263 year: 2004 ident: 10.1002/ajmg.a.30601-BIB20 publication-title: Dev Biol doi: 10.1016/j.ydbio.2004.03.026 – volume: 123 start-page: 1712 year: 1992 ident: 10.1002/ajmg.a.30601-BIB22 publication-title: Am Heart J doi: 10.1016/0002-8703(92)90834-I – volume: 40 start-page: 704 year: 2003 ident: 10.1002/ajmg.a.30601-BIB67 publication-title: J Med Genet doi: 10.1136/jmg.40.9.704 – volume: 2 start-page: 175 year: 1992 ident: 10.1002/ajmg.a.30601-BIB68 publication-title: Ultrasound Obstet Gynaecol doi: 10.1046/j.1469-0705.1992.02030175.x – volume: 42 start-page: 174 year: 1999 ident: 10.1002/ajmg.a.30601-BIB72 publication-title: Ann Genet – volume: 13 start-page: 420 year: 1976 ident: 10.1002/ajmg.a.30601-BIB7 publication-title: J Med Genet doi: 10.1136/jmg.13.6.420 – volume: 106 start-page: 2567 year: 2002 ident: 10.1002/ajmg.a.30601-BIB52 publication-title: Circulation doi: 10.1161/01.CIR.0000037221.45902.69 – volume: 100 start-page: 269 year: 2001 ident: 10.1002/ajmg.a.30601-BIB24 publication-title: Am J Med Genet doi: 10.1002/ajmg.1265 – volume: 96 start-page: 293 year: 1995 ident: 10.1002/ajmg.a.30601-BIB43 publication-title: J Clin Invest doi: 10.1172/JCI118033 – volume: 27 start-page: 286 year: 2001 ident: 10.1002/ajmg.a.30601-BIB41 publication-title: Nat Genet doi: 10.1038/85845 – volume: 72 start-page: 408 year: 2003 ident: 10.1002/ajmg.a.30601-BIB59 publication-title: Am J Hum Genet doi: 10.1086/346090 – volume: 66 start-page: 687 year: 1974 ident: 10.1002/ajmg.a.30601-BIB70 publication-title: Chest doi: 10.1378/chest.66.6.687 – volume: 29 start-page: 239 year: 1990 ident: 10.1002/ajmg.a.30601-BIB54 publication-title: Int J Cardiol doi: 10.1016/0167-5273(90)90227-V – volume: 101 start-page: 2345 year: 2000 ident: 10.1002/ajmg.a.30601-BIB44 publication-title: Circulation doi: 10.1161/01.CIR.101.20.2345 – volume: 128 start-page: 3061 year: 2001 ident: 10.1002/ajmg.a.30601-BIB27 publication-title: Development doi: 10.1242/dev.128.16.3061 – volume: 129A start-page: 51 year: 2004 ident: 10.1002/ajmg.a.30601-BIB37 publication-title: Am J Med Genet doi: 10.1002/ajmg.a.30090 – volume: 56 start-page: 818 year: 1985 ident: 10.1002/ajmg.a.30601-BIB5 publication-title: Am J Cardiol doi: 10.1016/0002-9149(85)91156-7 – volume: 26 start-page: 839 year: 1987 ident: 10.1002/ajmg.a.30601-BIB9 publication-title: Am J Med Genet doi: 10.1002/ajmg.1320260411 – volume: 479 start-page: 173 year: 2001 ident: 10.1002/ajmg.a.30601-BIB23 publication-title: Mutat Res doi: 10.1016/S0027-5107(01)00160-9 – volume: 9 start-page: 245 year: 1976 ident: 10.1002/ajmg.a.30601-BIB11 publication-title: Clin Genet doi: 10.1111/j.1399-0004.1976.tb01571.x – volume: 18 start-page: 266 year: 1998 ident: 10.1002/ajmg.a.30601-BIB29 publication-title: Nat Genet doi: 10.1038/ng0398-266 – volume: 34 start-page: 670 year: 1961 ident: 10.1002/ajmg.a.30601-BIB19 publication-title: Brit J Radiol doi: 10.1259/0007-1285-34-406-670 – volume: 79 start-page: 475 year: 2002 ident: 10.1002/ajmg.a.30601-BIB61 publication-title: Genomics doi: 10.1006/geno.2002.6742 – volume: 65 start-page: 128 year: 1996 ident: 10.1002/ajmg.a.30601-BIB71 publication-title: Am J Med Genet doi: 10.1002/(SICI)1096-8628(19961016)65:2<128::AID-AJMG9>3.0.CO;2-O – start-page: 45p volume-title: Epidemiology of congenital heart disease: The Baltimore-Washington Infant study, 1981-1989 year: 1993 ident: 10.1002/ajmg.a.30601-BIB28 – volume: 24 start-page: 171 year: 2000 ident: 10.1002/ajmg.a.30601-BIB31 publication-title: Nat Genet doi: 10.1038/72835 – volume: 267 start-page: 1831 year: 1995 ident: 10.1002/ajmg.a.30601-BIB64 publication-title: Science doi: 10.1126/science.7892609 – volume: 125 start-page: 825 year: 1998 ident: 10.1002/ajmg.a.30601-BIB77 publication-title: Development doi: 10.1242/dev.125.5.825 – volume: 71 start-page: 663 year: 2002 ident: 10.1002/ajmg.a.30601-BIB3 publication-title: Am J Hum Genet doi: 10.1086/342360 – volume: 31 start-page: 51 year: 1973 ident: 10.1002/ajmg.a.30601-BIB38 publication-title: Am J Cardiol doi: 10.1016/0002-9149(73)90810-2 – volume: 104 start-page: 619 year: 2001 ident: 10.1002/ajmg.a.30601-BIB55 publication-title: Cell doi: 10.1016/S0092-8674(01)00247-1 – volume: 25 start-page: 341 year: 1989 ident: 10.1002/ajmg.a.30601-BIB2 publication-title: Int J Cardiol doi: 10.1016/0167-5273(89)90226-X – volume: 24 start-page: 296 year: 2000 ident: 10.1002/ajmg.a.30601-BIB15 publication-title: Nat Genet doi: 10.1038/73528 – volume: 77 start-page: 1023 year: 1996 ident: 10.1002/ajmg.a.30601-BIB17 publication-title: Am J Cardiol doi: 10.1016/S0002-9149(97)89165-5 – volume: 10 start-page: 2945 year: 2001 ident: 10.1002/ajmg.a.30601-BIB47 publication-title: Hum Mol Genet doi: 10.1093/hmg/10.25.2945 – volume: 410 start-page: 97 year: 2001 ident: 10.1002/ajmg.a.30601-BIB46 publication-title: Nature doi: 10.1038/35065105 – volume: 64 start-page: 304 year: 1999 ident: 10.1002/ajmg.a.30601-BIB39 publication-title: Am J Hum Genet doi: 10.1086/302184 – volume: 19 start-page: 140 year: 1998 ident: 10.1002/ajmg.a.30601-BIB56 publication-title: Nat Genet doi: 10.1038/493 – volume: 56 start-page: 676 year: 1995 ident: 10.1002/ajmg.a.30601-BIB60 publication-title: Am J Hum Genet – volume: 211 start-page: 100 year: 1999 ident: 10.1002/ajmg.a.30601-BIB13 publication-title: Dev Biol doi: 10.1006/dbio.1999.9298 – volume: 133 start-page: 688 year: 1998 ident: 10.1002/ajmg.a.30601-BIB50 publication-title: J Pediatr doi: 10.1016/S0022-3476(98)70119-2 – volume: 17 start-page: 712 year: 1991 ident: 10.1002/ajmg.a.30601-BIB65 publication-title: J Am Coll Cardiol doi: 10.1016/S0735-1097(10)80188-3 – volume: 8 start-page: 723 year: 1999 ident: 10.1002/ajmg.a.30601-BIB75 publication-title: Hum Mol Genet doi: 10.1093/hmg/8.5.723 – volume: 21 start-page: 436 year: 1991 ident: 10.1002/ajmg.a.30601-BIB4 publication-title: Pediatr Radiol doi: 10.1007/BF02026682 – volume: 124 start-page: 225 year: 2004 ident: 10.1002/ajmg.a.30601-BIB48 publication-title: Am J Med Genet doi: 10.1002/ajmg.a.20366 – volume: 22 start-page: 724 year: 1987 ident: 10.1002/ajmg.a.30601-BIB18 publication-title: J Pediatr Surg doi: 10.1016/S0022-3468(87)80613-9 – volume: 24 start-page: 96 year: 2004 ident: 10.1002/ajmg.a.30601-BIB78 publication-title: Mol Cell Biol doi: 10.1128/MCB.24.1.96-104.2004 |
| SSID | ssj0030576 |
| Score | 1.9926564 |
| Snippet | Most nonsyndromic congenital heart malformations (CHMs) in humans are multifactorial in origin, although an increasing number of monogenic cases have been... |
| SourceID | proquest pubmed crossref wiley istex |
| SourceType | Aggregation Database Index Database Enrichment Source Publisher |
| StartPage | 171 |
| SubjectTerms | Animals autosomal dominant Cardiovascular Abnormalities - genetics Family Health Female Genes, Dominant - genetics Humans left ventricular outflow tract obstruction LVOTO Male Mice Pedigree prenatal diagnosis Review Literature as Topic Ventricular Outflow Obstruction - genetics Ventricular Outflow Obstruction - pathology |
| Title | Autosomal dominant inheritance of left ventricular outflow tract obstruction |
| URI | https://api.istex.fr/ark:/67375/WNG-5H7RGMCC-3/fulltext.pdf https://onlinelibrary.wiley.com/doi/abs/10.1002%2Fajmg.a.30601 https://www.ncbi.nlm.nih.gov/pubmed/15712195 https://www.proquest.com/docview/20920296 https://www.proquest.com/docview/67543210 |
| Volume | 134A |
| hasFullText | 1 |
| inHoldings | 1 |
| isFullTextHit | |
| isPrint | |
| link | http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV1Lb9QwELZQEYgLj_JanjkAF8g2cfwgx9VCd1WxPVRU9GbZ8QRBtzHqZsXj1zPjZFOKKBLcchjLzjzsGXvmG8aeaVkqC8BT4UqRClHm6Wv0A1IhpeMKiqKMRWKLfTU_FHtH8qi_cKNamA4fYrhwI8uI-zUZuHWrnTPQUPv55OPYjgsCFMEtOC8UQee_ORjQo1CTY285AhlLBUZCfd47Dt_5dfC5E-kyMffbn9zN895rPH52bzCzWXiXdXI8XrduXP34DdPx___sJrvee6bJpFOlW-wSNNvsSter8vs2u7roX-Fvs3eTdRtW4QSpfehSaZJPDRUStqRDSaiTJdRtQqmU8X7RniZh3dbL8DVpqSorCW7Arb3DDnffvp_O074rQ1oJyudQCqMg761F_kKGwpQYsYGoVGZzxyEHmVXKg9MaNPoKlcitq7yta1XnTqP477KtJjRwnyUul14VXIOyXoDlpZccCusxRJSAnuWIvdxIxlQ9ZDl1zliaDmyZG2KVsSayasSeD9RfOqiOC-heRCEPRPb0mNLbtDQf9mdGzvXBbDGdGpz-6UYLDBodvaTYBsJ6ZXhW8oyX6mIKjMMElUeN2L1Ofc6WJHWOx4QcsVdRCf66VjPZW8zi14N_I3_IrkWQWUKllI_YFgoVHqP71Lon0Uh-Am5nFDw |
| linkProvider | Wiley-Blackwell |
| linkToHtml | http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwpV1Lb9QwEB5BKx4XHuW1vJoDcIFsE8cPclyt6C5ls4eqFb0ZO3FQ222C2qx4_HpmnGxKEUVC3HIYK45nJv7GnvkG4IUSqTTOsZDblIecp3H4FnFAyIWwTLokSX2RWDaX032-cyAOuj6nVAvT8kP0B27kGf5_TQ5OB9Jb56yh5ujk89AME2IUuQrr_oqOUNFuzx-Ftuy7yxHNWMgxFuoy33H81q-jL-xJ67S83_4EOC_iV78Bbd-GT6upt3knx8NlY4f5j99YHf_j2-7ArQ6cBqPWmu7CFVdtwLW2XeX3DbiedRfx92A2Wjb1WX2C0kXdZtMEhxXVEjZkRkFdBgtXNgFlU_ojRnMa1MumXNRfg4YKs4La9tS192F_-93eeBp2jRnCnFNKh5QYCBWFMbjALkJ9CgzaHM9lZGLLXOxElMvCWaWcQriQ89jYvDBlKcvYKrSAB7BW1ZV7BIGNRSETppw0BXeGpYVgLjEFRonCIbgcwOuVanTesZZT84yFbvmWmaal0kb7pRrAy176S8vWcYncK6_lXsicHlOGmxL643yixVTtTrLxWOPrN1dmoNHv6DLFVK5enmkWpSxiqbxcAkMxThVSA3jY2s_5lISKcacQA3jjreCvc9WjnWzinx7_m_gm3JjuZTM9ez__8ARues5ZIqkUT2ENFeyeIZpq7HPvMT8Bp-QYWg |
| linkToPdf | http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV1Lb9QwEB5BKyouPAoty6s-ABfINnFshxxXC7tL6a5QRUVvlh07FXQbV21W0P56xk42pYgiwS2HseLMIzNjz3wD8CLjuVDW0ojpnEWM5Un0FuOAiHGuqbBpmocmselMTPbZzgE_aA_cfC9Mgw_RHbh5ywj_a2_gJ6bcvgQNVd-OD_uqn3pAkZuwygR6Sh8U7XXwUajKYbicRxmLGKZCbeE7rt_-dfUVl7TqufvjT_Hm1fA1-J_RXZDLnTdlJ0f9Ra37xcVvoI7__2n34E4bmpJBo0v34Yat1uFWM6zyfB3Wpu01_APYHSxqd-aOkdq4ppaGfK18J2HtlYi4ksxtWRNfSxkOGNUpcYu6nLvvpPZtWcTpDrj2IeyP3n8eTqJ2LENUMF_QIQSmQcYohfy1MUqTY8pmWSFilWhqE8vjQhirs8xmGCwULFG6MKosRZnoDOW_ASuVq-wjIDrhRqQ0s0IZZhXNDac2VQZzRG4xtOzB66VkZNFilvvRGXPZoC1T6VkllQys6sHLjvqkweq4hu5VEHJHpE6PfH1bxuWX2VjySbY3ng6HEl-_tdQCiVbnr1JUZd3iTNI4pzHNxfUUmIgx3x_Vg81GfS63xLME_QTvwZugBH_dqxzsTMfh6fG_kW_B2qd3I7n7YfbxCdwOgLMeoZI_hRWUr32GoVStnwd7-QlPhxcJ |
| openUrl | ctx_ver=Z39.88-2004&ctx_enc=info%3Aofi%2Fenc%3AUTF-8&rfr_id=info%3Asid%2Fsummon.serialssolutions.com&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.atitle=Autosomal+dominant+inheritance+of+left+ventricular+outflow+tract+obstruction&rft.jtitle=American+journal+of+medical+genetics.+Part+A&rft.au=Wessels%2C+Marja+W&rft.au=Berger%2C+Rolf+MF&rft.au=Frohn-Mulder%2C+Ingrid+ME&rft.au=Roos-Hesselink%2C+Jolien+W&rft.date=2005-04-15&rft.issn=1552-4825&rft.volume=134A&rft.issue=2&rft.spage=171&rft.epage=179&rft_id=info:doi/10.1002%2Fajmg.a.30601&rft.externalDBID=NO_FULL_TEXT |
| thumbnail_l | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/lc.gif&issn=1552-4825&client=summon |
| thumbnail_m | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/mc.gif&issn=1552-4825&client=summon |
| thumbnail_s | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/sc.gif&issn=1552-4825&client=summon |