Vyzkoušejte nový nástroj s podporou AI
Summon Research Assistant
BETA
SAMS, a Syndrome of Short Stature, Auditory-Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities Is a Unique Neurocristopathy Caused by Mutations in Goosecoid
Parry, David A., Logan, Clare V., Stegmann, Alexander P.A., Abdelhamed, Zakia A., Calder, Alistair, Khan, Shabana, Bonthron, David T., Clowes, Virginia, Sheridan, Eamonn, Ghali, Neeti, Chudley, Albert E., Dobbie, Angus, Stumpel, Constance T.R.M., Johnson, Colin A.
Published in American journal of human genetics (05.12.2013)
Published in American journal of human genetics (05.12.2013)
Get full text
Journal Article
The inflatable thymus herniation of the normal mediastinal thymus: A case report and review of the literature
Stuut, Marijn, van Zwieten, Gusta, Straetmans, Jos M., Lacko, Martin, Stumpel, Constance T.R.M.
Published in International journal of pediatric otorhinolaryngology (01.04.2016)
Published in International journal of pediatric otorhinolaryngology (01.04.2016)
Get full text
Journal Article
P162. Altered Subcortical and Cortical Brain Morphology in Adult Women With 47,XXX: A 7-Tesla Magnetic Resonance Imaging Study
Serrarens, Chaira, Otter, Maarten, Campforts, Bea C.M., Stumpel, Constance T.R.M., Jansma, Henk, van Amelsvoort, Therese A.M.J., Vingerhoets, Claudia
Published in Biological psychiatry (1969) (01.05.2022)
Published in Biological psychiatry (1969) (01.05.2022)
Get full text
Journal Article
The use of medical care and the prevalence of serious illness in an adult Prader–Willi syndrome cohort
Sinnema, Margje, Maaskant, Marian A., van Schrojenstein Lantman-de Valk, Henny M.J., Boer, Harm, Curfs, Leopold M.G., Schrander-Stumpel, Constance T.R.M.
Published in European journal of medical genetics (01.08.2013)
Published in European journal of medical genetics (01.08.2013)
Get full text
Journal Article
MLL2 mutation spectrum in 45 patients with Kabuki syndrome
Paulussen, Aimée D.C, Stegmann, Alexander P.A, Blok, Marinus J, Tserpelis, Demis, Posma-Velter, Crool, Detisch, Yvonne, Smeets, Eric E.J.G.L, Wagemans, Annemieke, Schrander, Jaap J.P, van den Boogaard, Marie-José H, van der Smagt, Jasper, van Haeringen, Arie, Stolte-Dijkstra, Irene, Kerstjens-Frederikse, Wilhelmina S, Mancini, Grazia M, Wessels, Marja W, Hennekam, Raoul C.M, Vreeburg, Maaike, Geraedts, Joep, de Ravel, Thomy, Fryns, Jean-Pierre, Smeets, Hubert J, Devriendt, Koenraad, Schrander-Stumpel, Constance T.R.M
Published in Human mutation (01.02.2011)
Published in Human mutation (01.02.2011)
Get full text
Journal Article
Physical health problems in adults with Prader-Willi syndrome
Sinnema, Margje, Maaskant, Marian A., van Schrojenstein Lantman-de Valk, Henny M.J., Caroline van Nieuwpoort, I., Drent, Madeleine L., Curfs, Leopold M.G., Schrander-Stumpel, Constance T.R.M.
Published in American journal of medical genetics. Part A (01.09.2011)
Published in American journal of medical genetics. Part A (01.09.2011)
Get full text
Journal Article
REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31
Beetz, Christian, Schüle, Rebecca, Deconinck, Tine, Tran-Viet, Khanh-Nhat, Zhu, Hui, Kremer, Berry P.H., Frints, Suzanna G.M., van Zelst-Stams, Wendy A.G., Byrne, Paula, Otto, Susanne, Nygren, Anders O.H., Baets, Jonathan, Smets, Katrien, Ceulemans, Berten, Dan, Bernard, Nagan, Narasimhan, Kassubek, Jan, Klimpe, Sven, Klopstock, Thomas, Stolze, Henning, Smeets, Hubert J.M., Schrander-Stumpel, Constance T.R.M., Hutchinson, Michael, van de Warrenburg, Bart P., Braastad, Corey, Deufel, Thomas, Pericak-Vance, Margaret, Schöls, Ludger, de Jonghe, Peter, Züchner, Stephan
Published in Brain (London, England : 1878) (01.04.2008)
Published in Brain (London, England : 1878) (01.04.2008)
Get full text
Journal Article
Genotype-phenotype relationships as prognosticators in Rett syndrome should be handled with care in clinical practice
Halbach, Nicky S.J., Smeets, Eric E.J., van den Braak, Noortje, van Roozendaal, Kees E.P., Blok, Rien M.J., Schrander-Stumpel, Constance T.R.M., Frijns, Jean-Pierre, Maaskant, Marian A., Curfs, Leopold M.G.
Published in American journal of medical genetics. Part A (01.02.2012)
Published in American journal of medical genetics. Part A (01.02.2012)
Get full text
Journal Article
Healthcare transition in persons with intellectual disabilities: General issues, the Maastricht model, and Prader-Willi syndrome
Schrander-Stumpel, Constance T.R.M., Sinnema, Margje, van den Hout, Lieke, Maaskant, Marian A., van Schrojenstein Lantman-de Valk, Henny M.J., Wagemans, Annemieke, Schrander, Jaap J.P., Curfs, Leopold M.G.
Published in American journal of medical genetics. Part C, Seminars in medical genetics (15.08.2007)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (15.08.2007)
Get full text
Journal Article
Expressive language in children with Kabuki syndrome
Defloor, Truus, van Borsel, John, Schrander-Stumpel, Constance T.R.M., Curfs, Leopold M.G.
Published in American journal of medical genetics. Part A (30.01.2005)
Published in American journal of medical genetics. Part A (30.01.2005)
Get full text
Journal Article
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature
Rots, Dmitrijs, Chater-Diehl, Eric, Dingemans, Alexander J.M., Goodman, Sarah J., Siu, Michelle T., Cytrynbaum, Cheryl, Choufani, Sanaa, Hoang, Ny, Walker, Susan, Awamleh, Zain, Charkow, Joshua, Meyn, Stephen, Pfundt, Rolph, Rinne, Tuula, Gardeitchik, Thatjana, de Vries, Bert B.A., Deden, A. Chantal, Leenders, Erika, Kwint, Michael, Stumpel, Constance T.R.M., Stevens, Servi J.C., Vermeulen, Jeroen R., van Harssel, Jeske V.T., Bosch, Danielle G.M., van Gassen, Koen L.I., van Binsbergen, Ellen, de Geus, Christa M., Brackel, Hein, Hempel, Maja, Lessel, Davor, Denecke, Jonas, Slavotinek, Anne, Strober, Jonathan, Crunk, Amy, Folk, Leandra, Wentzensen, Ingrid M., Yang, Hui, Zou, Fanggeng, Millan, Francisca, Person, Richard, Xie, Yili, Liu, Shuxi, Ousager, Lilian B., Larsen, Martin, Schultz-Rogers, Laura, Morava, Eva, Klee, Eric W., Berry, Ian R., Campbell, Jennifer, Lindstrom, Kristin, Pruniski, Brianna, Neumeyer, Ann M., Radley, Jessica A., Phornphutkul, Chanika, Schmidt, Berkley, Wilson, William G., Õunap, Katrin, Reinson, Karit, Pajusalu, Sander, van Haeringen, Arie, Ruivenkamp, Claudia, Cuperus, Roos, Santos-Simarro, Fernando, Palomares-Bralo, María, Pacio-Míguez, Marta, Ritter, Alyssa, Bhoj, Elizabeth, Tønne, Elin, Tveten, Kristian, Cappuccio, Gerarda, Brunetti-Pierri, Nicola, Rowe, Leah, Bunn, Jason, Saenz, Margarita, Platzer, Konrad, Mertens, Mareike, Caluseriu, Oana, Nowaczyk, Małgorzata J.M., Cohn, Ronald D., Kannu, Peter, Alkhunaizi, Ebba, Chitayat, David, Scherer, Stephen W., Brunner, Han G., Vissers, Lisenka E.L.M., Kleefstra, Tjitske, Koolen, David A., Weksberg, Rosanna
Published in American journal of human genetics (03.06.2021)
Published in American journal of human genetics (03.06.2021)
Get full text
Journal Article
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome
van der Sluijs, Pleuntje J., Jansen, Sandra, Vergano, Samantha A., Adachi-Fukuda, Miho, Alanay, Yasemin, AlKindy, Adila, Baban, Anwar, Bayat, Allan, Beck-Wödl, Stefanie, Berry, Katherine, Bijlsma, Emilia K., Bok, Levinus A., Brouwer, Alwin F. J., van der Burgt, Ineke, Campeau, Philippe M., Canham, Natalie, Chrzanowska, Krystyna, Dahan, Karin, De Rademaeker, Marjan, Destree, Anne, Dudding-Byth, Tracy, Earl, Rachel, Elcioglu, Nursel, Elias, Ellen R., Fagerberg, Christina, Gardham, Alice, Gener, Blanca, Gerkes, Erica H., Grasshoff, Ute, van Haeringen, Arie, Heitink, Karin R., Herkert, Johanna C., den Hollander, Nicolette S., Horn, Denise, Hunt, David, Kant, Sarina G., Kato, Mitsuhiro, Kayserili, Hülya, Kersseboom, Rogier, Kilic, Esra, Krajewska-Walasek, Malgorzata, Lammers, Kylin, Laulund, Lone W., Lederer, Damien, Lees, Melissa, López-González, Vanesa, Maas, Saskia, Mancini, Grazia M. S., Marcelis, Carlo, Martinez, Francisco, Maystadt, Isabelle, McGuire, Marianne, McKee, Shane, Mehta, Sarju, Metcalfe, Kay, Mizuno, Seiji, Moeschler, John B., Netzer, Christian, Ockeloen, Charlotte W., Oehl-Jaschkowitz, Barbara, Okamoto, Nobuhiko, Olminkhof, Sharon N. M., Orellana, Carmen, Pasquier, Laurent, Pottinger, Caroline, Riehmer, Vera, Robertson, Stephen P., Roifman, Maian, Rooryck, Caroline, Ropers, Fabienne G., Rosello, Monica, Ruivenkamp, Claudia A. L., Sagiroglu, Mahmut S., Sallevelt, Suzanne C. E. H., Sanchis Calvo, Amparo, Simsek-Kiper, Pelin O., Soares, Gabriela, Solaeche, Lucia, Sonmez, Fatma Mujgan, Splitt, Miranda, Steenbeek, Duco, Stegmann, Alexander P. A., Stumpel, Constance T. R. M., Tanabe, Saori, Uctepe, Eyyup, Utine, G. Eda, Veenstra-Knol, Hermine E., Venkateswaran, Sunita, Vincent-Delorme, Catherine, Vulto-van Silfhout, Anneke T., Wheeler, Patricia, Wilson, Golder N., Wilson, Louise C., Wollnik, Bernd, Kosho, Tomoki, Wieczorek, Dagmar, Eichler, Evan, Pfundt, Rolph, de Vries, Bert B. A., Santen, Gijs W. E.
Published in Genetics in medicine (01.06.2019)
Published in Genetics in medicine (01.06.2019)
Get full text
Journal Article
Intracortical myelin across laminae in adult individuals with 47,XXX: a 7 Tesla MRI study
Serrarens, Chaira, Ruiz-Fernandez, Julia, Otter, Maarten, Campforts, Bea C M, Stumpel, Constance T R M, Linden, David E J, van Amelsvoort, Therese A M J, Kashyap, Sriranga, Vingerhoets, Claudia
Published in Cerebral cortex (New York, N.Y. 1991) (01.08.2024)
Published in Cerebral cortex (New York, N.Y. 1991) (01.08.2024)
Get full text
Journal Article
Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy
Grange, Laura J., Reynolds, John J., Ullah, Farid, Isidor, Bertrand, Shearer, Robert F., Latypova, Xenia, Baxley, Ryan M., Oliver, Antony W., Ganesh, Anil, Cooke, Sophie L., Jhujh, Satpal S., McNee, Gavin S., Hollingworth, Robert, Higgs, Martin R., Natsume, Toyoaki, Khan, Tahir, Martos-Moreno, Gabriel Á., Chupp, Sharon, Mathew, Christopher G., Parry, David, Simpson, Michael A., Nahavandi, Nahid, Yüksel, Zafer, Drasdo, Mojgan, Kron, Anja, Vogt, Petra, Jonasson, Annemarie, Seth, Saad Ahmed, Gonzaga-Jauregui, Claudia, Brigatti, Karlla W., Stegmann, Alexander P. A., Kanemaki, Masato, Josifova, Dragana, Uchiyama, Yuri, Oh, Yukiko, Morimoto, Akira, Osaka, Hitoshi, Ammous, Zineb, Argente, Jesús, Matsumoto, Naomichi, Stumpel, Constance T.R.M., Taylor, Alexander M. R., Jackson, Andrew P., Bielinsky, Anja-Katrin, Mailand, Niels, Le Caignec, Cedric, Davis, Erica E., Stewart, Grant S.
Published in Nature communications (04.11.2022)
Published in Nature communications (04.11.2022)
Get full text
Journal Article
Resting-state functional connectivity in adults with 47,XXX: a 7 Tesla MRI study
Serrarens, Chaira, Kashyap, Sriranga, Riveiro-Lago, Laura, Otter, Maarten, Campforts, Bea C M, Stumpel, Constance T R M, Jansma, Henk, Linden, David E J, van Amelsvoort, Thérèse A M J, Vingerhoets, Claudia
Published in Cerebral cortex (New York, N.Y. 1991) (25.04.2023)
Published in Cerebral cortex (New York, N.Y. 1991) (25.04.2023)
Get full text
Journal Article
White matter organization abnormalities in adults with 47,XXX: A 7 Tesla MRI study
Serrarens, Chaira, Kashyap, Sriranga, Otter, Maarten, Campforts, Bea C.M., Stumpel, Constance T.R.M., Linden, David E.J., van Amelsvoort, Thérèse A.M.J., Vingerhoets, Claudia
Published in Psychiatry research. Neuroimaging (01.12.2024)
Published in Psychiatry research. Neuroimaging (01.12.2024)
Get full text
Journal Article