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A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation
Authors: Tarpey, Patrick S.; Smith, Raffaella; Pleasance, Erin; Whibley, Annabel; Edkins, Sarah; Hardy, Claire; O'Meara, Sarah; Latimer, Calli; Dicks, Ed; Menzies, Andrew; Stephens, Phil; Blow, Matt; Greenman, Chris; Xue, Yali; Tyler-Smith, Chris; Thompson, Deborah; Gray, Kristian; Andrews, Jenny; Barthorpe, Syd; Buck, Gemma; Cole, Jennifer; Dunmore, Rebecca; Jones, David; Maddison, Mark; Mironenko, Tatiana; Turner, Rachel; Turrell, Kelly; Varian, Jennifer; West, Sofie; Widaa, Sara; Wray, Paul; Teague, Jon; Butler, Adam; Jenkinson, Andrew; Jia, Mingming; Richardson, David; Shepherd, Rebecca; Wooster, Richard; Jia, Mingming; Richardson, David; Shepherd, Rebecca; Wooster, Richard; Tejada, M. Isabel; Martinez, Francisco; Carvill, Gemma; Goliath, Rene; de Brouwer, Arjan P. M.; van Bokhoven, Hans; Van Esch, Hilde; Chelly, Jamel; Raynaud, Martine; Ropers, Hans-Hilger; Abidi, Fatima E.; Srivastava, Anand K.; Cox, James; Luo, Ying; Mallya, Uma; Moon, Jenny; Parnau, Josef; Mohammed, Shehla; Tolmie, John L.; Shoubridge, Cheryl; Corbett, Mark; Gardner, Alison; Haan, Eric; Rujirabanjerd, Sinitdhorn; Shaw, Marie; Vandeleur, Lucianne; Fullston, Tod; Easton, Douglas F.; Boyle, Jackie; Partington, Michael; Hackett, Anna; Field, Michael; Skinner, Cindy; Stevenson, Roger E.; Bobrow, Martin; Turner, Gillian; Schwartz, Charles E.; Gecz, Jozef; Raymond, F. Lucy; Futreal, P. Andrew; Stratton, Michael R.
Date of Publication (YYYY-MM-DD): 2009-05
Title of Journal: Narure Genetics
Volume: 41
Issue / Number: 5
Start Page: 535
End Page: 543
Document Type: Article
ID: 473606.0


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


Submicroscopic duplications of th hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation
Authors: Froyen, Guy; Corbett, Mark; Vandewalle, Joke; Jarvela, Irma; Lawrence, Owen; Meldrum, Cliff; Bauters, Marijke; Govaerts, Karen; Vandeleur, Lucianne; Van Esch, Hilde; Chelly, Jamel; Sanlaville, Damien; van Bokhoven, Hans; Ropers, Hans-Hilger; Laumonnier, Frederic; Ranieri, Enzo; Schwartz, Charles E.; Abidi, Fatima; Tarpey, Patrick S.; Futreal, P. Andrew; Whibley, Annabel; Raymond, F. Lucy; Stratton, Michael R.; Fryns, Jean-Pierre; Scott, Rodney; Peippo, Maarit; Sipponen, Marjatta; Partington, Michael; Mowat, David; Field, Michael; Hackett, Anna; Marynen, Peter; Turner, Gillian; Gécz, Jozef
Date of Publication (YYYY-MM-DD): 2008-01-24
Title of Journal: The American Journal of Human Genetics,
Volume: 82
Issue / Number: 2
Start Page: 432
End Page: 443
Document Type: Article
ID: 408288.0


Screening of 20 patients with X-linked mental retardation using chromosome X-specific array-MAPH
Authors: Kousoulidou, Ludmila; Parkel, Sven; Zilina, Olga; Palta, Priit; Puusepp, Helen; Remm, Maido; Turner, Gillian; Boyle, Jackie; van Bokhoven, Hans; de Brouwer, Arjan; Van Esch, Hilde; Froyen, Guy; Ropers, Hans-Hilger; Chelly, Jamel; Moraine, Claude; Gecz, Jozef; Kurg, Ants; Patsalis, Philippos C.
Date of Publication (YYYY-MM-DD): 2007-09-27
Title of Journal: European Journal of Medical Genetics
Volume: 50
Issue / Number: 6
Start Page: 399
End Page: 410
Document Type: Article
ID: 410657.0


Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation
Authors: Ullmann, Reinhard; Turner, Gillian; Kirchhoff, Maria; Chen, Wei; Tonge, Bruce; Rosenberg, Carla; Field, Michael; Vianna-Morgante, Angela M.; Christie, Louise; Krepischi-Santos, Ana C.; Banna, Lynn; Brereton, Avril V.; Hill, Alyssa; Bisgaard, Anne-Marie; Müller, Ines; Hultschig, Claus; Erdogan, Fikret; Wieczorek, Georg; Ropers, Hans-Hilger
Date of Publication (YYYY-MM-DD): 2007-05-04
Title of Journal: Human Mutation : Variation, Databases, and Disease
Volume: 28
Issue / Number: 7
Start Page: 674
End Page: 682
Document Type: Article
ID: 334809.0


Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation
Authors: Ullmann, Reinhard; Turner, Gillian; Kirchhoff, Maria; Chen, Wei; Tonge, Bruce; Rosenberg, Carla; Field, Michael; Vianna-Morgante, Angela M.; Christie, Louise; Krepischi-Santos, Ana C.; Banna, Lynn; Brereton, Avril V.; Hill, Alyssa; Bisgaard, Anne-Marie; Müller, Ines; Hultschig, Claus; Erdogan, Fikret; Wieczorek, Georg; Ropers, Hans-Hilger
Date of Publication (YYYY-MM-DD): 2007-05-04
Title of Journal: Human Mutation : Variation, Databases, and Disease
Volume: 28
Issue / Number: 7
Document Type: Article
ID: 335950.0


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


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


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


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