X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes
Hu, H, Haas, S A, Chelly, J, Van Esch, H, Raynaud, M, de Brouwer, A P M, Weinert, S, Froyen, G, Frints, S G M, Laumonnier, F, Zemojtel, T, Love, M I, Richard, H, Emde, A-K, Bienek, M, Jensen, C, Hambrock, M, Fischer, U, Langnick, C, Feldkamp, M, Wissink-Lindhout, W, Lebrun, N, Castelnau, L, Rucci, J, Montjean, R, Dorseuil, O, Billuart, P, Stuhlmann, T, Shaw, M, Corbett, M A, Gardner, A, Willis-Owen, S, Tan, C, Friend, K L, Belet, S, van Roozendaal, K E P, Jimenez-Pocquet, M, Moizard, M-P, Ronce, N, Sun, R, O'Keeffe, S, Chenna, R, van Bömmel, A, Göke, J, Hackett, A, Field, M, Christie, L, Boyle, J, Haan, E, Nelson, J, Turner, G, Baynam, G, Gillessen-Kaesbach, G, Müller, U, Steinberger, D, Budny, B, Badura-Stronka, M, Latos-Bieleńska, A, Ousager, L B, Wieacker, P, Rodríguez Criado, G, Bondeson, M-L, Annerén, G, Dufke, A, Cohen, M, Van Maldergem, L, Vincent-Delorme, C, Echenne, B, Simon-Bouy, B, Kleefstra, T, Willemsen, M, Fryns, J-P, Devriendt, K, Ullmann, R, Vingron, M, Wrogemann, K, Wienker, T F, Tzschach, A, van Bokhoven, H, Gecz, J, Jentsch, T J, Chen, W, Ropers, H-H, Kalscheuer, V M
Published in Molecular psychiatry (01.01.2016)
Published in Molecular psychiatry (01.01.2016)
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Noninvasive detection of fetal trisomy 21: systematic review and report of quality and outcomes of diagnostic accuracy studies performed between 1997 and 2012
Mersy, E, Smits, L J M, van Winden, L A A P, de Die-Smulders, C E M, Paulussen, A D C, Macville, M V E, Coumans, A B C, Frints, S G M
Published in Human reproduction update (01.07.2013)
Published in Human reproduction update (01.07.2013)
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In utero gene therapy rescues microcephaly caused by Pqbp1-hypofunction in neural stem progenitor cells
Ito, H, Shiwaku, H, Yoshida, C, Homma, H, Luo, H, Chen, X, Fujita, K, Musante, L, Fischer, U, Frints, S G M, Romano, C, Ikeuchi, Y, Shimamura, T, Imoto, S, Miyano, S, Muramatsu, S-i, Kawauchi, T, Hoshino, M, Sudol, M, Arumughan, A, Wanker, E E, Rich, T, Schwartz, C, Matsuzaki, F, Bonni, A, Kalscheuer, V M, Okazawa, H
Published in Molecular psychiatry (01.04.2015)
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Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH
Lugtenberg, D, de Brouwer, A P M, Kleefstra, T, Oudakker, A R, Frints, S G M, Schrander-Stumpel, C T R M, Fryns, J P, Jensen, L R, Chelly, J, Moraine, C, Turner, G, Veltman, J A, Hamel, B C J, de Vries, B B A, van Bokhoven, H, Yntema, H G
Published in Journal of medical genetics (01.04.2006)
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Congenital hydrocephalus in clinical practice: A genetic diagnostic approach
Verhagen, J.M.A, Schrander-Stumpel, C.T.R.M, Krapels, I.P.C, de Die-Smulders, C.E.M, van Lint, F.H.M, Willekes, C, Weber, J.W, Gavilanes, A.W.D, Macville, M.V.E, Stegmann, A.P.A, Engelen, J.J.M, Bakker, J, Vos, Y.J, Frints, S.G.M
Published in European journal of medical genetics (01.11.2011)
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Adducted thumbs: A clinical clue to genetic diagnosis
Verhagen, J.M.A, Schrander-Stumpel, C.T.R.M, Blezer, M.M.J, Weber, J.W, Schrander, J.J.P, Rubio-Gozalbo, M.E, Bakker, J.A, Stegmann, A.P.A, Vos, Y.J, Frints, S.G.M
Published in European journal of medical genetics (01.03.2013)
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A third MRX family (MRX68) is the result of mutation in the long chain fatty acid-CoA ligase 4 (FACL4) gene: proposal of a rapid enzymatic assay for screening mentally retarded patients
Longo, I, Frints, S G M, Fryns, J-P, Meloni, I, Pescucci, C, Ariani, F, Borghgraef, M, Raynaud, M, Marynen, P, Schwartz, C, Renieri, A, Froyen, G
Published in Journal of medical genetics (01.01.2003)
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Osteopathia striata with cranial sclerosis due to mutations in the WTX gene
Perdu, B, De Freitas, F, Frints, S, Schouten, M, Schrander-Stumpel, C, Barbosa, M, Pinto-Basto, J, Reis-Lima, M, de Vernejoul, M, Becker, K, Freckmann, M, Keymolen, K, Haan, E, Savarirayan, R, König, R, Zabel, B, Van Hul, W
Published in Bone (New York, N.Y.) (01.06.2009)
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Phenotype and genotype in 101 males with X-linked creatine transporter deficiency
van de Kamp, J M, Betsalel, O T, Mercimek-Mahmutoglu, S, Abulhoul, L, Grünewald, S, Anselm, I, Azzouz, H, Bratkovic, D, de Brouwer, A, Hamel, B, Kleefstra, T, Yntema, H, Campistol, J, Vilaseca, M A, Cheillan, D, D’Hooghe, M, Diogo, L, Garcia, P, Valongo, C, Fonseca, M, Frints, S, Wilcken, B, von der Haar, S, Meijers-Heijboer, H E, Hofstede, F, Johnson, D, Kant, S G, Lion-Francois, L, Pitelet, G, Longo, N, Maat-Kievit, J A, Monteiro, J P, Munnich, A, Muntau, A C, Nassogne, M C, Osaka, H, Ounap, K, Pinard, J M, Quijano-Roy, S, Poggenburg, I, Poplawski, N, Abdul-Rahman, O, Ribes, A, Arias, A, Yaplito-Lee, J, Schulze, A, Schwartz, C E, Schwenger, S, Soares, G, Sznajer, Y, Valayannopoulos, V, Van Esch, H, Waltz, S, Wamelink, M M C, Pouwels, P J W, Errami, A, van der Knaap, M S, Jakobs, C, Mancini, G M, Salomons, G S
Published in Journal of medical genetics (01.07.2013)
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MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse
Wesdorp, Mieke, Murillo-Cuesta, Silvia, Peters, Theo, Celaya, Adelaida M., Oonk, Anne, Schraders, Margit, Oostrik, Jaap, Gomez-Rosas, Elena, Beynon, Andy J., Hartel, Bas P., Okkersen, Kees, Koenen, Hans J.P.M., Weeda, Jack, Lelieveld, Stefan, Voermans, Nicol C., Joosten, Irma, Hoyng, Carel B., Lichtner, Peter, Kunst, Henricus P.M., Feenstra, Ilse, de Bruijn, Suzanne E., van Dooren, M.F., de Gier, H.H.W., Hoefsloot, E.H., van der Schroeff, M.P., Kant, S.G., Rotteveel, L.J.C., Frints, S.G.M., Hof, J.R., Stokroos, R.J., Vanhoutte, E.K., Admiraal, R.J.C., Feenstra, I., Kremer, H., Kunst, H.P.M., Pennings, R.J.E., Yntema, H.G., van Essen, A.J., Free, R.H., Klein-Wassink, J.S., Admiraal, Ronald J.C., Yntema, Helger G., van Wijk, Erwin, del Castillo, Ignacio, Serra, Pau, Varela-Nieto, Isabel, Pennings, Ronald J.E., Kremer, Hannie
Published in American journal of human genetics (05.07.2018)
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Holoprosencephaly: the Maastricht experience
Moog, U, De Die-Smulders, C E, Schrander-Stumpel, C T, Engelen, J J, Hamers, A J, Frints, S, Fryns, J P
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Published in Genetic counseling (2001)
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Anencephaly in monozygotic twins and recurrence risk
Frints, S. G. M., de Die-Smulders, C. E. M., Hasaart, T. H. M.
Published in Prenatal diagnosis (01.08.1998)
Published in Prenatal diagnosis (01.08.1998)
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P09.02: Uniparental disomy 14q32.2 in a fetus presenting with omphalocele
Wirjosoekarto, S., Willekes, C., Stegmann, A., Macville, M., Frints, S., Arens, Y.
Published in Ultrasound in obstetrics & gynecology (01.10.2011)
Published in Ultrasound in obstetrics & gynecology (01.10.2011)
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Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia
Kim, Annette S, Schwartz, Marianne, Devriendt, Koenraad, Fryns, Jean-Pierre, Rosen, Michael K, Verhoef, Gregor E.G, Frints, Suzanna G.M, Van den Oord, Joost J, Vandenberghe, Peter, Mathijs, Gert, Boogaerts, Marc A, You, Daoqi
Published in Nature genetics (01.03.2001)
Published in Nature genetics (01.03.2001)
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