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MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression. |
Authors: Frints, Suzanna Gerarda Maria; Lenzner, Steffen; Bauters, Mareike; Jensen, Lars Riff; Van Esch, Hilde; des Portes, Vincent; Moog, Ute; Macville, Merryn Victor Erik; van Roozendaal, Kees; Schrander-Stumpel, Constance Theresia Rimbertha Maria; Tzschach, Andreas; Marynen, Peter; Fryns, Jean-Pierre; Hame, Ben; van Bokhoven, Hans; Chelly, Jamel; Beldjord, Chérif; Turner, Gillian; Gecz, Jozef; Moraine, Claude; Raynaud, Martine; Ropers, Hans Hilger; Froyen, Guy; Kuss, Andreas Walter | Date of Publication (YYYY-MM-DD): 2008-04-09 | Title of Journal: European Journal of Human Genetics | Volume: 16 | Issue / Number: 9 | Start Page: 1029 | End Page: 1037 | Document Type: Article | ID: 407419.0 |
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Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci. |
Authors: Najmabadi, Hossein; Motazacker, Mohammad Mahdi; Garshasbi, Masoud; Kahrizi, Kimia; Tzschach, Andreas; Chen, Wei; Behjati, Farkhondeh; Hadavi, Valeh; Nieh, Sahar Esmaeeli; Abedini, Seyedeh Sedigheh; Vazifehmand, Reza; Firouzabadi, Saghar Ghasemi; Jamali, Payman; Falah, Masoumeh; Seifati, Seyed Morteza; Grüters, Annette; Lenzner, Steffen; Jensen, Lars R.; Rüschendorf, Franz; Kuss, Andreas W.; Ropers, Hans-Hilger | Date of Publication (YYYY-MM-DD): 2007-03-01 | Title of Journal: Human Genetics | Volume: 121 | Issue / Number: 1 | Start Page: 43 | End Page: 48 | Document Type: Article | ID: 334609.0 |
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Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium |
Authors: 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. | Date of Publication (YYYY-MM-DD): 2007-01-12 | Title of Journal: Human Mutation | Volume: 28 | Issue / Number: 2 | Start Page: 207 | End Page: 208 | Document Type: Article | ID: 333783.0 |
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X-linked mental retardation: a comprehensive molecular screen of 47 candidate genes from a 7.4 Mb interval in Xp11 |
Authors: Jensen, Lars Riff; Lenzner, Steffen; Mose, Bettina; Freude, Kristine; Tzschach, Andreas; Chen, Wei; Fryns, Jean-Pierre; Chelly, Jamel; Turner, Gillian; Moraine, Claude; Hamel, Ben; Ropers, Hans-Hilger; Kuss, Andreas walter | Date of Publication (YYYY-MM-DD): 2007-01-01 | Title of Journal: European Journal of Human Genetics : EJHG ; the Official Journal of the European Society of Human Genetics | Volume: 15 | Issue / Number: 1 | Start Page: 68 | End Page: 75 | Document Type: Article | ID: 334088.0 |
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X-linked mental retardation: a comprehensive molecular screen of 47 candidate genes from a 7.4 Mb interval in Xp11 |
Authors: Jensen, Lars Riff; Lenzner, Steffen; Mose, Bettina; Freude, Kristine; Tzschach, Andreas; Chen, Wei; Fryns, Jean-Pierre; Chelly, Jamel; Turner, Gillian; Moraine, Claude; Hamel, Ben; Ropers, Hans-Hilger; Kuss, Andreas walter | Date of Publication (YYYY-MM-DD): 2007-01-01 | Title of Journal: European Journal of Human Genetics : EJHG ; the Official Journal of the European Society of Human Genetics | Volume: 15 | Issue / Number: 1 | Start Page: 68 | End Page: 75 | Document Type: Article | ID: 337308.0 |
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A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome |
Authors: Budny, Bartlomiej; Chen, Wei; Omran, Heymut; Fliegauf, Manfred; Tzschach, Andreas; Wisniewska, Marzena; Jensen, Lars R.; Raynaud, Martine; Shoichet, Sarah A.; Badura, Magda; Lenzner, Steffen; Latos-Bielenska, Anna; Ropers, Hans-Hilger | Date of Publication (YYYY-MM-DD): 2006-06-17 | Title of Journal: Human Genetics | Volume: 120 | Issue / Number: 2 | Start Page: 171 | End Page: 178 | Document Type: Article | ID: 307327.0 |
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Novel JARID1C/SMCX mutations in patients with X-linked mental retardation |
Authors: Tzschach, Andreas; Lenzner, Steffen; Moser, Bettina; Reinhardt, Richard; Chelly, Jamel; Fryns, Jean-Pierre; Kleefstra, Tjitske; Raynaud, Martine; Turner, Gillian; Ropers, Hans-Hilger; Kuss, Andreas; Jensen, Lars Riff | Date of Publication (YYYY-MM-DD): 2006-03-15 | Title of Journal: Human Mutation | Volume: 27 | Issue / Number: 4 | Start Page: 389 | End Page: 389 | Document Type: Article | ID: 305408.0 |
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Novel JARID1C/SMCX mutations in patients with X-linked mental retardation |
Authors: Tzschach, Andreas; Lenzner, Steffen; Moser, Bettina; Reinhardt, Richard; Chelly, Jamel; Fryns, Jean-Pierre; Kleefstra, Tjitske; Raynaud, Martine; Turner, Gillian; Ropers, Hans-Hilger; Kuss, Andreas; Jensen, Lars Riff | Date of Publication (YYYY-MM-DD): 2006-03-15 | Title of Journal: Human Mutation | Volume: 27 | Issue / Number: 4 | Start Page: 389 | End Page: 389 | Document Type: Article | ID: 305410.0 |
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SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly |
Authors: Garshasbi, Masoud; Motazacker, Mohammad Mahdi; Kahrizi, Kimia; Behjati, Farkhondeh; Abedini, Seyedeh Sedigheh; Nieh, Sahar Esmaeeli; Firouzabadi, Saghar Ghasemi; Becker, Christian; Rüschendorf, Franz; Nürnberg, Peter; Tzschach, Andreas; Vazifehmand, Reza; Erdogan, Fikret; Ullmann, Reinhard; Lenzner, Steffen; Kuss, Andreas W.; Ropers, Hans-Hilger; Najmabadi, Hossein | Date of Publication (YYYY-MM-DD): 2006-02-01 | Title of Journal: Human Genetics | Volume: 118 | Issue / Number: 6 | Start Page: 708 | End Page: 715 | Document Type: Article | ID: 307622.0 |
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