Mutations in a new member of the chromodomain gene family cause CHARGE syndrome
Veltman, Joris A, Vissers, Lisenka E L M, van Ravenswaaij, Conny M A, Admiraal, Ronald, Hurst, Jane A, de Vries, Bert B A, Janssen, Irene M, van der Vliet, Walter A, Huys, Erik H L P G, de Jong, Pieter J, Hamel, Ben C J, Schoenmakers, Eric F P M, Brunner, Han G, van Kessel, Ad Geurts
Published in Nature genetics (01.09.2004)
Published in Nature genetics (01.09.2004)
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X-Linked Mental Retardation and Autism Are Associated with a Mutation in the NLGN4 Gene, a Member of the Neuroligin Family
Laumonnier, Frédéric, Bonnet-Brilhault, Frédérique, Gomot, Marie, Blanc, Romuald, David, Albert, Moizard, Marie-Pierre, Raynaud, Martine, Ronce, Nathalie, Lemonnier, Eric, Calvas, Patrick, Laudier, Béatrice, Chelly, Jamel, Fryns, Jean-Pierre, Ropers, Hans-Hilger, Hamel, Ben C.J., Andres, Christian, Barthélémy, Catherine, Moraine, Claude, Briault, Sylvain
Published in American journal of human genetics (01.03.2004)
Published in American journal of human genetics (01.03.2004)
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Journal Article
Neuromuscular involvement in various types of Ehlers-Danlos syndrome
Voermans, Nicol C., van Alfen, Nens, Pillen, Sigrid, Lammens, Martin, Schalkwijk, Joost, Zwarts, Machiel J., van Rooij, Iris A., Hamel, Ben C. J., van Engelen, Baziel G.
Published in Annals of neurology (01.06.2009)
Published in Annals of neurology (01.06.2009)
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Journal Article
Loss-of-Function Mutations in Euchromatin Histone Methyl Transferase 1 ( EHMT1) Cause the 9q34 Subtelomeric Deletion Syndrome
Kleefstra, Tjitske, Brunner, Han G., Amiel, Jeanne, Oudakker, Astrid R., Nillesen, Willy M., Magee, Alex, Geneviève, David, Cormier-Daire, Valérie, van Esch, Hilde, Fryns, Jean-Pierre, Hamel, Ben C.J., Sistermans, Erik A., de Vries, Bert B.A., van Bokhoven, Hans
Published in American journal of human genetics (01.08.2006)
Published in American journal of human genetics (01.08.2006)
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Journal Article
Transcription Factor SOX3 Is Involved in X-Linked Mental Retardation with Growth Hormone Deficiency
Laumonnier, Frédéric, Ronce, Nathalie, Hamel, Ben C.J., Thomas, Paul, Lespinasse, James, Raynaud, Martine, Paringaux, Christine, van Bokhoven, Hans, Kalscheuer, Vera, Fryns, Jean-Pierre, Chelly, Jamel, Moraine, Claude, Briault, Sylvain
Published in American journal of human genetics (01.12.2002)
Published in American journal of human genetics (01.12.2002)
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Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate
Laumonnier, F, Holbert, S, Ronce, N, Faravelli, F, Lenzner, S, Schwartz, C E, Lespinasse, J, Van Esch, H, Lacombe, D, Goizet, C, Phan-Dinh Tuy, F, van Bokhoven, H, Fryns, J-P, Chelly, J, Ropers, H-H, Moraine, C, Hamel, B C J, Briault, S
Published in Journal of medical genetics (01.10.2005)
Published in Journal of medical genetics (01.10.2005)
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Heterozygous Germline Mutations in the p53 Homolog p63 Are the Cause of EEC Syndrome
Celli, Jacopo, Duijf, Pascal, Hamel, Ben C.J, Bamshad, Michael, Kramer, Bridget, Smits, Arie P.T, Newbury-Ecob, Ruth, Hennekam, Raoul C.M, Van Buggenhout, Griet, van Haeringen, Arie, Woods, C.Geoffrey, van Essen, Anthonie J, de Waal, Rob, Vriend, Gert, Haber, Daniel A, Yang, Annie, McKeon, Frank, Brunner, Han G, van Bokhoven, Hans
Published in Cell (15.10.1999)
Published in Cell (15.10.1999)
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Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome
Kleefstra, T, Smidt, M, Banning, M J G, Oudakker, A R, Van Esch, H, de Brouwer, A P M, Nillesen, W, Sistermans, E A, Hamel, B C J, de Bruijn, D, Fryns, J-P, Yntema, H G, Brunner, H G, de Vries, B B A, van Bokhoven, H
Published in Journal of medical genetics (01.04.2005)
Published in Journal of medical genetics (01.04.2005)
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p63 Gene Mutations in EEC Syndrome, Limb-Mammary Syndrome, and Isolated Split Hand–Split Foot Malformation Suggest a Genotype-Phenotype Correlation
van Bokhoven, Hans, Hamel, Ben C.J., Bamshad, Mike, Sangiorgi, Eugenio, Gurrieri, Fiorella, Duijf, Pascal H.G., Vanmolkot, Kaate R.J., van Beusekom, Ellen, van Beersum, Sylvia E.C., Celli, Jacopo, Merkx, Gerard F.M., Tenconi, Romano, Fryns, Jean Pierre, Verloes, Alain, Newbury-Ecob, Ruth A., Raas-Rotschild, Annick, Majewski, Frank, Beemer, Frits A., Janecke, Andreas, Chitayat, David, Crisponi, Giangiorgio, Kayserili, Hülya, Yates, John R.W., Neri, Giovanni, Brunner, Han G.
Published in American journal of human genetics (01.09.2001)
Published in American journal of human genetics (01.09.2001)
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Journal Article
Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63
McGrath, J A, Duijf, P H, Doetsch, V, Irvine, A D, de Waal, R, Vanmolkot, K R, Wessagowit, V, Kelly, A, Atherton, D J, Griffiths, W A, Orlow, S J, van Haeringen, A, Ausems, M G, Yang, A, McKeon, F, Bamshad, M A, Brunner, H G, Hamel, B C, van Bokhoven, H
Published in Human molecular genetics (01.02.2001)
Published in Human molecular genetics (01.02.2001)
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Journal Article
Arts Syndrome Is Caused by Loss-of-Function Mutations in PRPS1
de Brouwer, Arjan P.M., Williams, Kelly L., Duley, John A., van Kuilenburg, André B.P., Nabuurs, Sander B., Egmont-Petersen, Michael, Lugtenberg, Dorien, Zoetekouw, Lida, Banning, Martijn J.G., Roeffen, Melissa, Hamel, Ben C.J., Weaving, Linda, Ouvrier, Robert A., Donald, Jennifer A., Wevers, Ron A., Christodoulou, John, van Bokhoven, Hans
Published in American journal of human genetics (01.09.2007)
Published in American journal of human genetics (01.09.2007)
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Mutations in ARHGEF6 , encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation
Gal, Andreas, Kutsche, Kerstin, Yntema, Helger, Brandt, Alexander, Jantke, Inka, Gerd Nothwang, Hans, Orth, Ulrike, Boavida, Maria G, David, Dezsö, Chelly, Jamel, Fryns, Jean-Pierre, Moraine, Claude, Ropers, Hans-Hilger, Hamel, Ben C.J, van Bokhoven, Hans
Published in Nature genetics (01.10.2000)
Published in Nature genetics (01.10.2000)
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Mutations in the Human TBX4 Gene Cause Small Patella Syndrome
Bongers, Ernie M.H.F., Duijf, Pascal H.G., van Beersum, Sylvia E.M., Schoots, Jeroen, van Kampen, Albert, Burckhardt, Andreas, Hamel, Ben C.J., Lošan, František, Hoefsloot, Lies H., Yntema, Helger G., Knoers, Nine V.A.M., van Bokhoven, Hans
Published in American journal of human genetics (01.06.2004)
Published in American journal of human genetics (01.06.2004)
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Journal Article
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)
Published in Journal of medical genetics (01.04.2006)
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ZNF674: A New Krüppel-Associated Box–Containing Zinc-Finger Gene Involved in Nonsyndromic X-Linked Mental Retardation
Lugtenberg, Dorien, Yntema, Helger G., Banning, Martijn J.G., Oudakker, Astrid R., Firth, Helen V., Willatt, Lionel, Raynaud, Martine, Kleefstra, Tjitske, Fryns, Jean-Pierre, Ropers, Hans-Hilger, Chelly, Jamel, Moraine, Claude, Gécz, Jozef, van Reeuwijk, Jeroen, Nabuurs, Sander B., de Vries, Bert B.A., Hamel, Ben C.J., de Brouwer, Arjan P.M., van Bokhoven, Hans
Published in American journal of human genetics (01.02.2006)
Published in American journal of human genetics (01.02.2006)
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Journal Article
Renpenning syndrome comes into focus
Stevenson, Roger E., Bennett, C.W., Abidi, F., Kleefstra, T., Porteous, M., Simensen, R.J., Lubs, H.A., Hamel, B.C.J., Schwartz, C.E.
Published in American journal of medical genetics. Part A (01.05.2005)
Published in American journal of medical genetics. Part A (01.05.2005)
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