Homozygous Mutation in SPATA16 Is Associated with Male Infertility in Human Globozoospermia
Dam, Anika H.D.M., Koscinski, Isabelle, Kremer, Jan A.M., Moutou, Céline, Jaeger, Anne-Sophie, Oudakker, Astrid R., Tournaye, Herman, Charlet, Nicolas, Lagier-Tourenne, Clotilde, van Bokhoven, Hans, Viville, Stéphane
Published in American journal of human genetics (01.10.2007)
Published in American journal of human genetics (01.10.2007)
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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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Reduced Euchromatin histone methyltransferase 1 causes developmental delay, hypotonia, and cranial abnormalities associated with increased bone gene expression in Kleefstra syndrome mice
Balemans, Monique C.M., Ansar, Muhammad, Oudakker, Astrid R., van Caam, Arjan P.M., Bakker, Brenda, Vitters, Elly L., van der Kraan, Peter M., de Bruijn, Diederik R.H., Janssen, Sanne M., Kuipers, Arthur J., Huibers, Manon M.H., Maliepaard, Eliza M., Walboomers, X. Frank, Benevento, Marco, Nadif Kasri, Nael, Kleefstra, Tjitske, Zhou, Huiqing, Van der Zee, Catharina E.E.M., van Bokhoven, Hans
Published in Developmental biology (15.02.2014)
Published in Developmental biology (15.02.2014)
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Structural variation in Xq28 : MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy
LUGTENBERG, Dorien, KLEEFSTRA, Tjitske, GOIZET, Cyril, LACOMBE, Didier, PEDESPAN, Jean-Michel, ECHENNE, Bernard, TARIVERDIAN, Gholamali, O'ROURKE, Declan, KING, Mary D, GREEN, Andrew, VAN KOGELENBERG, Margriet, VAN ESCH, Hilde, OUDAKKER, Astrid R, GECZ, Jozef, HAMEL, Ben C. J, VAN BOKHOVEN, Hans, DE BROUWER, Arjan P. M, NILLESEN, Willy M, YNTEMA, Helger G, TZSCHACH, Andreas, RAYNAUD, Martine, RATING, Dietz, JOURNEL, Hubert, CHELLY, Jamel
Published in European journal of human genetics : EJHG (01.04.2009)
Published in European journal of human genetics : EJHG (01.04.2009)
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A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy
de Brouwer, Arjan P M, Nabuurs, Sander B, Verhaart, Ingrid E C, Oudakker, Astrid R, Hordijk, Roel, Yntema, Helger G, Hordijk-Hos, Jannet M, Voesenek, Krysta, de Vries, Bert B A, van Essen, Ton, Chen, Wei, Hu, Hao, Chelly, Jamel, den Dunnen, Johan T, Kalscheuer, Vera M, Aartsma-Rus, Annemieke M, Hamel, Ben C J, van Bokhoven, Hans, Kleefstra, Tjitske
Published in European journal of human genetics : EJHG (01.04.2014)
Published in European journal of human genetics : EJHG (01.04.2014)
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Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium
de Brouwer, Arjan P.M., Yntema, Helger G., Kleefstra, Tjitske, Lugtenberg, Dorien, Oudakker, Astrid R., de Vries, Bert B.A., van Bokhoven, Hans, Van Esch, Hilde, Frints, Suzanne G.M., Froyen, Guy, Fryns, Jean-Pierre, Raynaud, Martine, Moizard, Marie-Pierre, Ronce, Nathalie, Bensalem, Anissa, Moraine, Claude, Poirier, Karine, Castelnau, Laetitia, Saillour, Yoann, Bienvenu, Thierry, Beldjord, Chérif, des Portes, Vincent, Chelly, Jamel, Turner, Gillian, Fullston, Tod, Gecz, Jozef, Kuss, Andreas W., Tzschach, Andreas, Jensen, Lars Riff, Lenzner, Steffen, Kalscheuer, Vera M., Ropers, Hans-Hilger, Hamel, Ben C.J.
Published in Human mutation (01.02.2007)
Published in Human mutation (01.02.2007)
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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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Expanding phenotype of XNP mutations: mild to moderate mental retardation
Yntema, Helger G, Poppelaars, Francis A, Derksen, Esther, Oudakker, Astrid R, van Roosmalen, Tanja, Jacobs, Anja, Obbema, Hanneke, Brunner, Han G, Hamel, Ben C J, van Bokhoven, Hans
Published in American journal of medical genetics (01.07.2002)
Published in American journal of medical genetics (01.07.2002)
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Xq13.2q21.1 duplication encompassing the ATRX gene in a man with mental retardation, minor facial and genital anomalies, short stature and broad thorax
Lugtenberg, Dorien, de Brouwer, Arjan P.M., Oudakker, Astrid R., Pfundt, Rolph, Hamel, Ben C.J., van Bokhoven, Hans, Bongers, Ernie M.H.F.
Published in American journal of medical genetics. Part A (01.04.2009)
Published in American journal of medical genetics. Part A (01.04.2009)
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Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy
Lugtenberg, Dorien, Kleefstra, Tjitske, Oudakker, Astrid R, Nillesen, Willy M, Yntema, Helger G, Tzschach, Andreas, Raynaud, Martine, Rating, Dietz, Journel, Hubert, Chelly, Jamel, Goizet, Cyril, Lacombe, Didier, Pedespan, Jean-michel, Echenne, Bernard, Tariverdian, Gholamali, O'rourke, Declan, King, Mary D, Green, Andrew, Van Kogelenberg, Margriet, Van Esch, Hilde, Gecz, Jozef, Hamel, Ben Cj, Van Bokhoven, Hans, De Brouwer, Arjan Pm
Published in European journal of human genetics : EJHG (01.05.2009)
Published in European journal of human genetics : EJHG (01.05.2009)
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MECP2 analysis in mentally retarded patients: implications for routine DNA diagnostics
KLEEFSTRA, Tjitske, YNTEMA, Helger G, NILLESEN, Willy M, OUDAKKER, Astrid R, MULLAART, Reinier A, GEERDINK, Niels, VAN BOKHOVEN, Hans, DE VRIES, Bert B. A, SISTERMANS, Erik A, HAMEL, Ben C. J
Published in European journal of human genetics : EJHG (01.01.2004)
Published in European journal of human genetics : EJHG (01.01.2004)
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Low frequency of MECP2 mutations in mentally retarded males
Yntema, Helger G, Kleefstra, Tjitske, Oudakker, Astrid R, Romein, Tom, de Vries, Bert B A, Nillesen, Willy, Sistermans, Erik A, Brunner, Han G, Hamel, Ben C J, van Bokhoven, Hans
Published in European journal of human genetics : EJHG (01.08.2002)
Published in European journal of human genetics : EJHG (01.08.2002)
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Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation
Lugtenberg, Dorien, Zangrande-Vieira, Luiz, Kirchhoff, Maria, Whibley, Annabel C., Oudakker, Astrid R., Kjaergaard, Susanne, Vianna-Morgante, Angela M., Kleefstra, Tjitske, Ruiter, Mariken, Jehee, Fernanda S., Ullmann, Reinhard, Schwartz, Charles E., Stratton, Michael, Raymond, F. Lucy, Veltman, Joris A., Vrijenhoek, Terry, Pfundt, Rolph, Schuurs-Hoeijmakers, Janneke H.M., Hehir-Kwa, Jayne Y., Froyen, Guy, Chelly, Jamel, Ropers, Hans Hilger, Moraine, Claude, Gècz, Jozef, Knijnenburg, Jeroen, Kant, Sarina G., Hamel, Ben C.J., Rosenberg, Carla, van Bokhoven, Hans, de Brouwer, Arjan P.M.
Published in American journal of medical genetics. Part A (01.03.2010)
Published in American journal of medical genetics. Part A (01.03.2010)
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Localization of a gene for nonspecific X-linked mental retardation (MRX 76) to Xp22.3-Xp21.3
Kleefstra, Tjitske, Yntema, Helger G, Oudakker, Astrid R, de Vries, Bert B A, van Bokhoven, Hans, Hamel, Ben C J, Poppelaars, Francis A, Ausems, Margreet G E M
Published in American journal of medical genetics (15.07.2002)
Published in American journal of medical genetics (15.07.2002)
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In-frame deletion in MECP2 causes mild nonspecific mental retardation
Yntema, Helger G, Oudakker, Astrid R, Kleefstra, Tjitske, Hamel, Ben C J, van Bokhoven, Hans, Chelly, Jamel, Kalscheuer, Vera M, Fryns, Jean-Pierre, Raynaud, Martine, Moizard, Marie-Pierre, Moraine, Claude
Published in American journal of medical genetics (01.01.2002)
Published in American journal of medical genetics (01.01.2002)
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Erratum: Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy
Lugtenberg, Dorien, Kleefstra, Tjitske, Oudakker, Astrid R, Nillesen, Willy M, Yntema, Helger G, Tzschach, Andreas, Raynaud, Martine, Rating, Dietz, Journel, Hubert, Chelly, Jamel, Goizet, Cyril, Lacombe, Didier, Pedespan, Jean-Michel, Echenne, Bernard, Tariverdian, Gholamali, O'Rourke, Declan, King, Mary D, Green, Andrew, van Kogelenberg, Margriet, Van Esch, Hilde, Gecz, Jozef, Hamel, Ben CJ, van Bokhoven, Hans, de Brouwer, Arjan PM
Published in European journal of human genetics : EJHG (23.04.2009)
Published in European journal of human genetics : EJHG (23.04.2009)
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Journal Article
Xq13.2q21.1 duplication encompassing the ATRX gene in a man with mental retardation, minor facial and genital anomalies, short stature and broad thorax
Lugtenberg, Dorien, de Brouwer, Arjan P.M., Oudakker, Astrid R., Pfundt, Rolph, Hamel, Ben C.J., van Bokhoven, Hans, Bongers, Ernie M.H.F.
Published in American Journal of Medical Genetics Part A (01.04.2009)
Published in American Journal of Medical Genetics Part A (01.04.2009)
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