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LINE1-mediated epigenetic repression of androgen receptor transcription causes androgen insensitivity syndrome
Pozojevic, Jelena, Sivaprasad, Radhika, Laß, Joshua, Haarich, Franziska, Trinh, Joanne, Kakar, Naseebullah, Schulz, Kristin, Händler, Kristian, Verrijn Stuart, Annemarie A., Giltay, Jacques C., van Gassen, Koen L., Caliebe, Almuth, Holterhus, Paul-Martin, Spielmann, Malte, Hornig, Nadine C.
Published in Scientific reports (15.07.2024)
Published in Scientific reports (15.07.2024)
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Journal Article
Germline mutations affecting the histone H4 core cause a developmental syndrome by altering DNA damage response and cell cycle control
Tessadori, Federico, Giltay, Jacques C, Hurst, Jane A, Massink, Maarten P, Duran, Karen, Vos, Harmjan R, van Es, Robert M, Scott, Richard H, van Gassen, Koen L I, Bakkers, Jeroen, van Haaften, Gijs
Published in Nature genetics (01.11.2017)
Published in Nature genetics (01.11.2017)
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Journal Article
Familial Male-limited Precocious Puberty (FMPP) and Testicular Germ Cell Tumors
Kooij, Cezanne D, Mavinkurve-Groothuis, Annelies M C, Kremer Hovinga, Idske C L, Looijenga, Leendert H J, Rinne, Tuula, Giltay, Jacques C, de Kort, Laetitia M O, Klijn, Aart J, de Krijger, Ronald R, Verrijn Stuart, Annemarie A
Published in The journal of clinical endocrinology and metabolism (01.11.2022)
Published in The journal of clinical endocrinology and metabolism (01.11.2022)
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Journal Article
Limited contribution of NR5A1 (SF-1) mutations in women with primary ovarian insufficiency (POI)
Janse, Femi, de With, Larissa M., Duran, Karen J., Kloosterman, Wigard P., Goverde, Angelique J., Lambalk, Cornelius B., Laven, Joop S.E., Fauser, Bart C.J.M., Giltay, Jacques C.
Published in Fertility and sterility (2012)
Published in Fertility and sterility (2012)
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Journal Article
Heterozygous Variants in the DNA‐binding Domain of c‐Myb May Affect Normal B/T Cell Development
Smits, Bas M., Hartley, Taila, Dünnebach, Ester, Bartels, Marije, Boycott, Kim M., Kernohan, Kirstin D., Dyment, David A., Giltay, Jacques C., Haddad, Elie, Jarinova, Olga, Montfrans, Joris, Royen‐Kerkhof, Annet, Veken, Lars T., Witte, Moniek, Nierkens, Stefan, Pham‐Huy, Anne, Leavis, Helen L.
Published in HemaSphere (01.10.2022)
Published in HemaSphere (01.10.2022)
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Journal Article
Genes in the Ureteric Budding Pathway: Association Study on Vesico-Ureteral Reflux Patients
van Eerde, Albertien M., Duran, Karen, van Riel, Els, de Kovel, Carolien G. F., Koeleman, Bobby P. C., Knoers, Nine V. A. M., Renkema, Kirsten Y., van der Horst, Henricus J. R., Bökenkamp, Arend, van Hagen, Johanna M., van den Berg, Leonard H., Wolffenbuttel, Katja P., van den Hoek, Joop, Feitz, Wouter F., de Jong, Tom P. V. M., Giltay, Jacques C., Wijmenga, Cisca
Published in PloS one (27.04.2012)
Published in PloS one (27.04.2012)
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Journal Article
Psychiatric morbidity and X-chromosomal origin in a Klinefelter sample
Boks, Marco P.M., de Vette, Marjolein H.T., Sommer, Iris E., van Rijn, Sophie, Giltay, Jacques C., Swaab, Hanna, Kahn, René S.
Published in Schizophrenia research (01.07.2007)
Published in Schizophrenia research (01.07.2007)
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Journal Article
Cancer risks by sex and variant type in PTEN hamartoma tumor syndrome
Hendricks, Linda A J, Hoogerbrugge, Nicoline, Mensenkamp, Arjen R, Brunet, Joan, Lleuger-Pujol, Roser, Høberg-Vetti, Hildegunn, Tveit Haavind, Marianne, Innella, Giovanni, Turchetti, Daniela, Aretz, Stefan, Spier, Isabel, Tischkowitz, Marc, Jahn, Arne, Links, Thera P, Olderode-Berends, Maran J W, Blatnik, Ana, Leter, Edward M, Evans, D Gareth, Woodward, Emma R, Steinke-Lange, Verena, Anastasiadou, Violetta C, Colas, Chrystelle, Villy, Marie-Charlotte, Benusiglio, Patrick R, Gerasimenko, Anna, Barili, Valeria, Branchaud, Maud, Houdayer, Claude, Tesi, Bianca, Yazicioglu, M Omer, van der Post, Rachel S, Schuurs-Hoeijmakers, Janneke H M, van Hest, Liselotte P, Adank, Muriel A, Duijkers, Floor, Nielsen, Maartje, Verbeek, Katja C J, van Ierland, Yvette, Giltay, Jacques C, Vos, Janet R, Vos, Janet R
Published in JNCI : Journal of the National Cancer Institute (10.01.2023)
Published in JNCI : Journal of the National Cancer Institute (10.01.2023)
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Journal Article
Mutations in N-acetylglucosamine (O-GlcNAc) transferase in patients with X-linked intellectual disability
Willems, Anke P., Gundogdu, Mehmet, Kempers, Marlies J.E., Giltay, Jacques C., Pfundt, Rolph, Elferink, Martin, Loza, Bettina F., Fuijkschot, Joris, Ferenbach, Andrew T., van Gassen, Koen L.I., van Aalten, Daan M.F., Lefeber, Dirk J.
Published in The Journal of biological chemistry (28.07.2017)
Published in The Journal of biological chemistry (28.07.2017)
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Journal Article
Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations
Van Montfrans, Joris M., Hartman, Esther A. R., Braun, Kees P. J., Hennekam, Eric A. M., Hak, Elisabeth A., Nederkoorn, Paul J., Westendorp, Willeke F., Bredius, Robbert G. M., Kollen, Wouter J. W., Schölvinck, Elisabeth H., Legger, G. Elizabeth, Meyts, Isabelle, Liston, Adrian, Lichtenbelt, Klaske D., Giltay, Jacques C., Van Haaften, Gijs, De Vries Simons, Gaby M., Leavis, Helen, Sanders, Cornelis J. G., Bierings, Marc B., Nierkens, Stefan, Van Gijn, Marielle E.
Published in Rheumatology (Oxford, England) (01.05.2016)
Published in Rheumatology (Oxford, England) (01.05.2016)
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Journal Article
Craniotubular Dysplasia Ikegawa Type: Further Delineation of the Phenotype
Ommeren, Babeth, Hoekstra, Maud, Gassen, Koen, Jaarsveld, Richard, Haaften, Gijs, Mathijssen, Irene, Dammers, Ruben, Veelen, Marie‐Lise, Baars, Rolanda, Giltay, Jacques C.
Published in American journal of medical genetics. Part A (01.02.2025)
Published in American journal of medical genetics. Part A (01.02.2025)
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Journal Article
Prioritization and burden analysis of rare variants in 208 candidate genes suggest they do not play a major role in CAKUT
Nicolaou, Nayia, Pulit, Sara L., Nijman, Isaac J., Monroe, Glen R., Feitz, Wout F.J., Schreuder, Michiel F., van Eerde, Albertien M., de Jong, Tom P.V.M., Giltay, Jacques C., van der Zwaag, Bert, Havenith, Marlies R., Zwakenberg, Susan, van der Zanden, Loes F.M., Poelmans, Geert, Cornelissen, Elisabeth A.M., Lilien, Marc R., Franke, Barbara, Roeleveld, Nel, van Rooij, Iris A.L.M., Cuppen, Edwin, Bongers, Ernie M.H.F., Giles, Rachel H., Knoers, Nine V.A.M., Renkema, Kirsten Y.
Published in Kidney international (01.02.2016)
Published in Kidney international (01.02.2016)
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Journal Article
A de novo variant in the human HIST1H4J gene causes a syndrome analogous to the HIST1H4C-associated neurodevelopmental disorder
Tessadori, Federico, Rehman, Atteeq U., Giltay, Jacques C., Xia, Fan, Streff, Haley, Duran, Karen, Bakkers, Jeroen, Lalani, Seema R., van Haaften, Gijs
Published in European journal of human genetics : EJHG (01.05.2020)
Published in European journal of human genetics : EJHG (01.05.2020)
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Journal Article
Trichothiodystrophy causative TFIIEβ mutation affects transcription in highly differentiated tissue
Theil, Arjan F, Mandemaker, Imke K, van den Akker, Emile, Swagemakers, Sigrid M A, Raams, Anja, Wüst, Tatjana, Marteijn, Jurgen A, Giltay, Jacques C, Colombijn, Richard M, Moog, Ute, Kotzaeridou, Urania, Ghazvini, Mehrnaz, von Lindern, Marieke, Hoeijmakers, Jan H J, Jaspers, Nicolaas G J, van der Spek, Peter J, Vermeulen, Wim
Published in Human molecular genetics (01.12.2017)
Published in Human molecular genetics (01.12.2017)
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Journal Article
Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations
Werren, Elizabeth A., Peirent, Emily R., Jantti, Henna, Guxholli, Alba, Srivastava, Kinshuk Raj, Orenstein, Naama, Narayanan, Vinodh, Wiszniewski, Wojciech, Dawidziuk, Mateusz, Gawlinski, Pawel, Umair, Muhammad, Khan, Amjad, Khan, Shahid Niaz, Geneviève, David, Lehalle, Daphné, van Gassen, K. L. I., Giltay, Jacques C., Oegema, Renske, van Jaarsveld, Richard H., Rafiullah, Rafiullah, Rappold, Gudrun A., Rabin, Rachel, Pappas, John G., Wheeler, Marsha M., Bamshad, Michael J., Tsan, Yao-Chang, Johnson, Matthew B., Keegan, Catherine E., Srivastava, Anshika, Bielas, Stephanie L.
Published in Cell death & disease (30.05.2024)
Published in Cell death & disease (30.05.2024)
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Journal Article
Phenotype delineation of ZNF462 related syndrome
Kruszka, Paul, Hu, Tommy, Hong, Sungkook, Signer, Rebecca, Cogné, Benjamin, Isidor, Betrand, Mazzola, Sarah E., Giltay, Jacques C., Gassen, Koen L. I., England, Eleina M., Pais, Lynn, Ockeloen, Charlotte W., Sanchez‐Lara, Pedro A., Kinning, Esther, Adams, Darius J., Treat, Kayla, Torres‐Martinez, Wilfredo, Bedeschi, Maria F., Iascone, Maria, Blaney, Stephanie, Bell, Oliver, Tan, Tiong Y., Delrue, Marie‐Ange, Jurgens, Julie, Barry, Brenda J., Engle, Elizabeth C., Savage, Sarah K., Fleischer, Nicole, Martinez‐Agosto, Julian A., Boycott, Kym, Zackai, Elaine H., Muenke, Maximilian
Published in American journal of medical genetics. Part A (01.10.2019)
Published in American journal of medical genetics. Part A (01.10.2019)
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Journal Article
Extreme phenotypic variability of a novel GLI2 mutation in a large family with panhypopituitarism and polydactyly: clinical implications
Kremer Hovinga, Idske C.L., Giltay, Jacques C., Crabben, Saskia N., Steyls, Anja, Kamp, Hetty J., Paulussen, Aimee D.C.
Published in Clinical endocrinology (Oxford) (01.09.2018)
Published in Clinical endocrinology (Oxford) (01.09.2018)
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Journal Article
LIMK1 variants are associated with divergent endocrinological phenotypes and altered exocytosis dynamics
Muffels, Irena J.J., Carter, Theodore, Rehmann, Holger, Vastert, Sebastiaan J., Verrijn Stuart, Annemarie A., Blank, Andreas C., Garde, Aurore, van der Zwaag, Bert, De Lange, Iris M., Giltay, Jacques C., van Gassen, Koen L.I., Koop, Klaas, Asensio, Cedric S., van Hasselt, Peter M.
Published in iScience (20.06.2025)
Published in iScience (20.06.2025)
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Journal Article
Disruption of ROBO2 Is Associated with Urinary Tract Anomalies and Confers Risk of Vesicoureteral Reflux
Lu, Weining, van Eerde, Albertien M., Fan, Xueping, Quintero-Rivera, Fabiola, Kulkarni, Shashikant, Ferguson, Heather, Kim, Hyung-Goo, Fan, Yanli, Xi, Qiongchao, Li, Qing-gang, Sanlaville, Damien, Andrews, William, Sundaresan, Vasi, Bi, Weimin, Yan, Jiong, Giltay, Jacques C., Wijmenga, Cisca, de Jong, Tom P. V.M., Feather, Sally A., Woolf, Adrian S., Rao, Yi, Lupski, James R., Eccles, Michael R., Quade, Bradley J., Gusella, James F., Morton, Cynthia C., Maas, Richard L.
Published in American journal of human genetics (01.04.2007)
Published in American journal of human genetics (01.04.2007)
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Journal Article