Pesquisa | Biblioteca Virtual em Saúde

1.

Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation.

Tarpey, Patrick S; Raymond, F Lucy; Nguyen, Lam S; Rodriguez, Jayson; Hackett, Anna; Vandeleur, Lucianne; Smith, Raffaella; Shoubridge, Cheryl; Edkins, Sarah; Stevens, Claire; O'Meara, Sarah; Tofts, Calli; Barthorpe, Syd; Buck, Gemma; Cole, Jennifer; Halliday, Kelly; Hills, Katy; Jones, David; Mironenko, Tatiana; Perry, Janet; Varian, Jennifer; West, Sofie; Widaa, Sara; Teague, John; Dicks, Ed; Butler, Adam; Menzies, Andrew; Richardson, David; Jenkinson, Andrew; Shepherd, Rebecca; Raine, Keiran; Moon, Jenny; Luo, Yin; Parnau, Josep; Bhat, Shambhu S; Gardner, Alison; Corbett, Mark; Brooks, Doug; Thomas, Paul; Parkinson-Lawrence, Emma; Porteous, Mary E; Warner, John P; Sanderson, Tracy; Pearson, Pauline; Simensen, Richard J; Skinner, Cindy; Hoganson, George; Superneau, Duane; Wooster, Richard; Bobrow, Martin.

Nat Genet; 39(9): 1127-33, 2007 Sep.

Artigo em Inglês | MEDLINE | ID: mdl-17704778

2.

Histone demethylase KDM5C is a SAHA-sensitive central hub at the crossroads of transcriptional axes involved in multiple neurodevelopmental disorders.

Poeta, Loredana; Padula, Agnese; Attianese, Benedetta; Valentino, Mariaelena; Verrillo, Lucia; Filosa, Stefania; Shoubridge, Cheryl; Barra, Adriano; Schwartz, Charles E; Christensen, Jesper; van Bokhoven, Hans; Helin, Kristian; Lioi, Maria Brigida; Collombat, Patrick; Gecz, Jozef; Altucci, Lucia; Di Schiavi, Elia; Miano, Maria Giuseppina.

Hum Mol Genet; 2019 Nov 06.

Artigo em Inglês | MEDLINE | ID: mdl-31691806

3.

Splice variant in ARX leading to loss of C-terminal region in a boy with intellectual disability and infantile onset developmental and epileptic encephalopathy.

Shoubridge, Cheryl; Jackson, Matilda; Grinton, Bronwyn; Berkovic, Samuel F; Scheffer, Ingrid E; Huskins, Shannon; Thomas, Alison; Ware, Tyson.

Am J Med Genet A; 179(8): 1483-1490, 2019 Aug.

Artigo em Inglês | MEDLINE | ID: mdl-31145546

4.

IQSEC2 mutation update and review of the female-specific phenotype spectrum including intellectual disability and epilepsy.

Shoubridge, Cheryl; Harvey, Robert J; Dudding-Byth, Tracy.

Hum Mutat; 2018 Oct 17.

Artigo em Inglês | MEDLINE | ID: mdl-30328660

5.

Embryonic forebrain transcriptome of mice with polyalanine expansion mutations in the ARX homeobox gene.

Mattiske, Tessa; Lee, Kristie; Gecz, Jozef; Friocourt, Gaelle; Shoubridge, Cheryl.

Hum Mol Genet; 25(24): 5433-5443, 2016 12 15.

Artigo em Inglês | MEDLINE | ID: mdl-27798109

6.

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

Jaeckle Santos, Lane J; 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.

Hum Genet; 123(5): 469-76, 2008 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-18404279

7.

An Emerging Female Phenotype with Loss-of-Function Mutations in the Aristaless-Related Homeodomain Transcription Factor ARX.

Mattiske, Tessa; Moey, Ching; Vissers, Lisenka E; Thorne, Natalie; Georgeson, Peter; Bakshi, Madhura; Shoubridge, Cheryl.

Hum Mutat; 38(5): 548-555, 2017 05.

Artigo em Inglês | MEDLINE | ID: mdl-28150386

8.

Placental transcriptome co-expression analysis reveals conserved regulatory programs across gestation.

Buckberry, Sam; Bianco-Miotto, Tina; Bent, Stephen J; Clifton, Vicki; Shoubridge, Cheryl; Shankar, Kartik; Roberts, Claire T.

BMC Genomics; 18(1): 10, 2017 01 03.

Artigo em Inglês | MEDLINE | ID: mdl-28049421

9.

Extensive phenotyping of two ARX polyalanine expansion mutation mouse models that span clinical spectrum of intellectual disability and epilepsy.

Jackson, Matilda R; Lee, Kristie; Mattiske, Tessa; Jaehne, Emily J; Ozturk, Ezgi; Baune, Bernhard T; O'Brien, Terence J; Jones, Nigel; Shoubridge, Cheryl.

Neurobiol Dis; 105: 245-256, 2017 Sep.

Artigo em Inglês | MEDLINE | ID: mdl-28602636

10.

Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency.

Tan, Chuan; Shard, Chloe; Ranieri, Enzo; Hynes, Kim; Pham, Duyen H; Leach, Damian; Buchanan, Grant; Corbett, Mark; Shoubridge, Cheryl; Kumar, Raman; Douglas, Evelyn; Nguyen, Lam S; Mcmahon, Jacinta; Sadleir, Lynette; Specchio, Nicola; Marini, Carla; Guerrini, Renzo; Moller, Rikke S; Depienne, Christel; Haan, Eric; Thomas, Paul Q; Berkovic, Samuel F; Scheffer, Ingrid E; Gecz, Jozef.

Hum Mol Genet; 24(18): 5250-9, 2015 Sep 15.

Artigo em Inglês | MEDLINE | ID: mdl-26123493

11.

Reduced polyalanine-expanded Arx mutant protein in developing mouse subpallium alters Lmo1 transcriptional regulation.

Lee, Kristie; Mattiske, Tessa; Kitamura, Kunio; Gecz, Jozef; Shoubridge, Cheryl.

Hum Mol Genet; 23(4): 1084-94, 2014 Feb 15.

Artigo em Inglês | MEDLINE | ID: mdl-24122442

12.

A regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARX.

Poeta, Loredana; Fusco, Francesca; Drongitis, Denise; Shoubridge, Cheryl; Manganelli, Genesia; Filosa, Stefania; Paciolla, Mariateresa; Courtney, Monica; Collombat, Patrick; Lioi, Maria Brigida; Gecz, Jozef; Ursini, Matilde Valeria; Miano, Maria Giuseppina.

Am J Hum Genet; 92(1): 114-25, 2013 Jan 10.

Artigo em Inglês | MEDLINE | ID: mdl-23246292

13.

The molecular and phenotypic spectrum of IQSEC2-related epilepsy.

Zerem, Ayelet; Haginoya, Kazuhiro; Lev, Dorit; Blumkin, Lubov; Kivity, Sara; Linder, Ilan; Shoubridge, Cheryl; Palmer, Elizabeth Emma; Field, Michael; Boyle, Jackie; Chitayat, David; Gaillard, William D; Kossoff, Eric H; Willems, Marjolaine; Geneviève, David; Tran-Mau-Them, Frederic; Epstein, Orna; Heyman, Eli; Dugan, Sarah; Masurel-Paulet, Alice; Piton, Ame'lie; Kleefstra, Tjitske; Pfundt, Rolph; Sato, Ryo; Tzschach, Andreas; Matsumoto, Naomichi; Saitsu, Hirotomo; Leshinsky-Silver, Esther; Lerman-Sagie, Tally.

Epilepsia; 57(11): 1858-1869, 2016 11.

Artigo em Inglês | MEDLINE | ID: mdl-27665735

14.

Copy number variants in patients with intellectual disability affect the regulation of ARX transcription factor gene.

Ishibashi, Minaka; Manning, Elizabeth; Shoubridge, Cheryl; Krecsmarik, Monika; Hawkins, Thomas A; Giacomotto, Jean; Zhao, Ting; Mueller, Thomas; Bader, Patricia I; Cheung, Sau W; Stankiewicz, Pawel; Bain, Nicole L; Hackett, Anna; Reddy, Chilamakuri C S; Mechaly, Alejandro S; Peers, Bernard; Wilson, Stephen W; Lenhard, Boris; Bally-Cuif, Laure; Gecz, Jozef; Becker, Thomas S; Rinkwitz, Silke.

Hum Genet; 134(11-12): 1163-82, 2015 Nov.

Artigo em Inglês | MEDLINE | ID: mdl-26337422

15.

A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability.

Huang, Lingli; Jolly, Lachlan A; Willis-Owen, Saffron; Gardner, Alison; Kumar, Raman; Douglas, Evelyn; Shoubridge, Cheryl; Wieczorek, Dagmar; Tzschach, Andreas; Cohen, Monika; Hackett, Anna; Field, Michael; Froyen, Guy; Hu, Hao; Haas, Stefan A; Ropers, Hans-Hilger; Kalscheuer, Vera M; Corbett, Mark A; Gecz, Jozef.

Am J Hum Genet; 91(4): 694-702, 2012 Oct 05.

Artigo em Inglês | MEDLINE | ID: mdl-23000143

16.

ARX homeodomain mutations abolish DNA binding and lead to a loss of transcriptional repression.

Shoubridge, Cheryl; Tan, May Huey; Seiboth, Grace; Gécz, Jozef.

Hum Mol Genet; 21(7): 1639-47, 2012 Apr 01.

Artigo em Inglês | MEDLINE | ID: mdl-22194193

17.

The genetic landscape of intellectual disability arising from chromosome X.

Gécz, Jozef; Shoubridge, Cheryl; Corbett, Mark.

Trends Genet; 25(7): 308-16, 2009 Jul.

Artigo em Inglês | MEDLINE | ID: mdl-19556021

18.

Polyalanine tract disorders and neurocognitive phenotypes.

Shoubridge, Cheryl; Gecz, Jozef.

Adv Exp Med Biol; 769: 185-203, 2012.

Artigo em Inglês | MEDLINE | ID: mdl-23560312

19.

ARX spectrum disorders: making inroads into the molecular pathology.

Shoubridge, Cheryl; Fullston, Tod; Gécz, Jozef.

Hum Mutat; 31(8): 889-900, 2010 Aug.

Artigo em Inglês | MEDLINE | ID: mdl-20506206

20.

Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability.

Shoubridge, Cheryl; Tarpey, Patrick S; Abidi, Fatima; Ramsden, Sarah L; Rujirabanjerd, Sinitdhorn; Murphy, Jessica A; Boyle, Jackie; Shaw, Marie; Gardner, Alison; Proos, Anne; Puusepp, Helen; Raymond, F Lucy; Schwartz, Charles E; Stevenson, Roger E; Turner, Gill; Field, Michael; Walikonis, Randall S; Harvey, Robert J; Hackett, Anna; Futreal, P Andrew; Stratton, Michael R; Gécz, Jozef.

Nat Genet; 42(6): 486-8, 2010 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-20473311

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