Bibliotecas PUC-SP - Busca Integrada

Lessons learnt from large-scale exon re-sequencing of the X chromosome

Por Raymond, F. Lucy, Whibley, Annabel, Stratton, Michael R., Gecz, Jozef
Publicado em 2009

TM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutation

Por Christophe-Hobertus, Christiane, Kooy, Frank, Gecz, Jozef, Abramowicz, Marc J, Holinski-Feder, Elke, Schwartz, Charles, Christophe, Daniel
Publicado em 2004

TM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutation

Por Holinski-Feder Elke, Abramowicz Marc J, Gecz Jozef, Kooy Frank, Christophe-Hobertus Christiane, Schwartz Charles, Christophe Daniel
Publicado no BMC Medical Genetics (2004-09-01)

A novel locus for X-linked congenital cataract on Xq24

Por Craig, Jamie E., Friend, Kathryn L., Gecz, Jozef, Rattray, Kate M, Troski, Mark, Mackey, David A., Burdon, Kathryn P.
Publicado em 2008

A novel syndrome of paediatric cataract, dysmorphism, ectodermal features, and developmental delay in Australian Aboriginal family maps to 1p35.3-p36.32

Por Gecz Jozef, Liebelt Jan E, Laurie Kate J, Hattersley Kathryn, Durkin Shane R, Craig Jamie E, Burdon Kathryn P
Publicado no BMC Medical Genetics (2010-11-01)

FRAXE-associated mental retardation protein (FMR2) is an RNA-binding protein with high affinity for G-quartet RNA forming structure

Por Bensaid, Mounia, Melko, Mireille, Bechara, Elias G., Davidovic, Laetitia, Berretta, Antonio, Catania, Maria Vincenza, Gecz, Jozef, Lalli, Enzo, Bardoni, Barbara
Publicado em 2009

Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoform

Por Sharma, Shiwani, Burdon, Kathryn P., Dave, Alpana, Jamieson, Robyn V., Yaron, Yuval, Billson, Frank, Van Maldergem, Lionel, Lorenz, Birgit, Gécz, Jozef, Craig, Jamie E.
Publicado em 2008

A Recurrent RNA-Splicing Mutation in the SEDL Gene Causes X-Linked Spondyloepiphyseal Dysplasia Tarda

Por Tiller, George E., Hannig, Vickie L., Dozier, Damon, Carrel, Laura, Trevarthen, Karrie C., Wilcox, William R., Mundlos, Stefan, Haines, Jonathan L., Gedeon, Agi K., Gecz, Jozef
Publicado em 2001

XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene

Por Stepp, Monica L, Cason, A Lauren, Finnis, Merran, Mangelsdorf, Marie, Holinski-Feder, Elke, Macgregor, David, MacMillan, Andrée, Holden, Jeanette JA, Gecz, Jozef, Stevenson, Roger E, Schwartz, Charles E
Publicado em 2005

Mutations in the X-Linked Cyclin-Dependent Kinase–Like 5 (CDKL5/STK9) Gene Are Associated with Severe Neurodevelopmental Retardation

Por Tao, Jiong, Van Esch, Hilde, Hagedorn-Greiwe, M., Hoffmann, Kirsten, Moser, Bettina, Raynaud, Martine, Sperner, Jürgen, Fryns, Jean-Pierre, Schwinger, Eberhard, Gécz, Jozef, Ropers, Hans-Hilger, Kalscheuer, Vera M.
Publicado em 2004

XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene

Por MacMillan Andrée, Macgregor David, Holinski-Feder Elke, Mangelsdorf Marie, Finnis Merran, Cason A Lauren, Stepp Monica L, Holden Jeanette JA, Gecz Jozef, Stevenson Roger E, Schwartz Charles E
Publicado no BMC Medical Genetics (2005-04-01)

Oligosaccharyltransferase-Subunit Mutations in Nonsyndromic Mental Retardation

Por Molinari, Florence, Foulquier, François, Tarpey, Patrick S., Morelle, Willy, Boissel, Sarah, Teague, Jon, Edkins, Sarah, Futreal, P. Andrew, Stratton, Michael R., Turner, Gillian, Matthijs, Gert, Gecz, Jozef, Munnich, Arnold, Colleaux, Laurence
Publicado em 2008

Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males

Por Van Esch, Hilde , Bauters, Marijke , Ignatius, Jaakko , Jansen, Mieke , Raynaud, Martine , Hollanders, Karen , Lugtenberg, Dorien , Bienvenu, Thierry , Jensen, Lars Riff , Gécz, Jozef , Moraine, Claude , Marynen, Peter , Fryns, Jean-Pierre , Froyen, Guy 
Publicado em 2005

Disruption of the Serine/Threonine Kinase 9 Gene Causes Severe X-Linked Infantile Spasms and Mental Retardation

Por Kalscheuer, Vera M., Tao, Jiong, Donnelly, Andrew, Hollway, Georgina, Schwinger, Eberhard, Kübart, Sabine, Menzel, Corinna, Hoeltzenbein, Maria, Tommerup, Niels, Eyre, Helen, Harbord, Michael, Haan, Eric, Sutherland, Grant R., Ropers, Hans-Hilger, Gécz, Jozef
Publicado em 2003

Mutations in the FTSJ1 Gene Coding for a Novel S-Adenosylmethionine–Binding Protein Cause Nonsyndromic X-Linked Mental Retardation

Por Freude, Kristine, Hoffmann, Kirsten, Jensen, Lars-Riff, Delatycki, Martin B., des Portes, Vincent, Moser, Bettina, Hamel, Ben, van Bokhoven, Hans, Moraine, Claude, Fryns, Jean-Pierre, Chelly, Jamel, Gécz, Jozef, Lenzner, Steffen, Kalscheuer, Vera M., Ropers, Hans-Hilger
Publicado em 2004

Refined mapping of X-linked reticulate pigmentary disorder and sequencing of candidate genes

Por Santos, Lane J. Jaeckle, Xing, Chao, Barnes, Robert B., Ades, Lesley C., Megarbane, Andre, Vidal, Christopher, Xuereb, Angela, Tarpey, Patrick S., Smith, Raffaella, Khazab, Mahmoud, Shoubridge, Cheryl, Partington, Michael, Futreal, Andrew, Stratton, Michael R., Gecz, Jozef, Zinn, Andrew R.
Publicado em 2008

Mutations of CDKL5 Cause a Severe Neurodevelopmental Disorder with Infantile Spasms and Mental Retardation

Por Weaving, Linda S., Christodoulou, John, Williamson, Sarah L., Friend, Kathie L., McKenzie, Olivia L. D., Archer, Hayley, Evans, Julie, Clarke, Angus, Pelka, Gregory J., Tam, Patrick P. L., Watson, Catherine, Lahooti, Hooshang, Ellaway, Carolyn J., Bennetts, Bruce, Leonard, Helen, Gécz, Jozef
Publicado em 2004

Mutations in the JARID1C Gene, Which Is Involved in Transcriptional Regulation and Chromatin Remodeling, Cause X-Linked Mental Retardation

Por Jensen, Lars Riff, Amende, Marion, Gurok, Ulf, Moser, Bettina, Gimmel, Verena, Tzschach, Andreas, Janecke, Andreas R., Tariverdian, Gholamali, Chelly, Jamel, Fryns, Jean-Pierre, Van Esch, Hilde, Kleefstra, Tjitske, Hamel, Ben, Moraine, Claude, Gécz, Jozef, Turner, Gillian, Reinhardt, Richard, Kalscheuer, Vera M., Ropers, Hans-Hilger, Lenzner, Steffen
Publicado em 2005

Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans

Por Wu, Ye, Arai, Amy C., Rumbaugh, Gavin, Srivastava, Anand K., Turner, Gillian, Hayashi, Takashi, Suzuki, Erika, Jiang, Yuwu, Zhang, Lilei, Rodriguez, Jayson, Boyle, Jackie, Tarpey, Patrick, Raymond, F. Lucy, Nevelsteen, Joke, Froyen, Guy, Stratton, Mike, Futreal, Andy, Gecz, Jozef, Stevenson, Roger, Schwartz, Charles E., Valle, David, Huganir, Richard L., Wang, Tao
Publicado em 2007

Mutations in a Novel Gene, NHS, Cause the Pleiotropic Effects of Nance-Horan Syndrome, Including Severe Congenital Cataract, Dental Anomalies, and Mental Retardation

Por Burdon, Kathryn P., McKay, James D., Sale, Michèle M., Russell-Eggitt, Isabelle M., Mackey, David A., Wirth, M. Gabriela, Elder, James E., Nicoll, Alan, Clarke, Michael P., FitzGerald, Liesel M., Stankovich, James M., Shaw, Marie A., Sharma, Shiwani, Gajovic, Srecko, Gruss, Peter, Ross, Shelley, Thomas, Paul, Voss, Anne K., Thomas, Tim, Gécz, Jozef, Craig, Jamie E.
Publicado em 2003