Pesquisa | BVS Doenças Infecciosas e Parasitárias

1.

Integrated in silico and experimental assessment of disease relevance of PCDH19 missense variants.

Pham, Duyen H; Pitman, Melissa R; Kumar, Raman; Jolly, Lachlan A; Schulz, Renee; Gardner, Alison E; de Nys, Rebekah; Heron, Sarah E; Corbett, Mark A; Kothur, Kavitha; Gill, Deepak; Rajagopalan, Sulekha; Kolc, Kristy L; Halliday, Benjamin J; Robertson, Stephen P; Regan, Brigid M; Kirsch, Heidi E; Berkovic, Samuel F; Scheffer, Ingrid E; Pitson, Stuart M; Petrovski, Slave; Gecz, Jozef.

Hum Mutat ; 42(8): 1030-1041, 2021 08.

Artigo em Inglês | MEDLINE | ID: mdl-34082468

2.

Different types of disease-causing noncoding variants revealed by genomic and gene expression analyses in families with X-linked intellectual disability.

Field, Michael J; Kumar, Raman; Hackett, Anna; Kayumi, Sayaka; Shoubridge, Cheryl A; Ewans, Lisa J; Ivancevic, Atma M; Dudding-Byth, Tracy; Carroll, Renée; Kroes, Thessa; Gardner, Alison E; Sullivan, Patricia; Ha, Thuong T; Schwartz, Charles E; Cowley, Mark J; Dinger, Marcel E; Palmer, Elizabeth E; Christie, Louise; Shaw, Marie; Roscioli, Tony; Gecz, Jozef; Corbett, Mark A.

Hum Mutat ; 42(7): 835-847, 2021 07.

Artigo em Inglês | MEDLINE | ID: mdl-33847015

3.

PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome.

Heron, Sarah E; Grinton, Bronwyn E; Kivity, Sara; Afawi, Zaid; Zuberi, Sameer M; Hughes, James N; Pridmore, Clair; Hodgson, Bree L; Iona, Xenia; Sadleir, Lynette G; Pelekanos, James; Herlenius, Eric; Goldberg-Stern, Hadassa; Bassan, Haim; Haan, Eric; Korczyn, Amos D; Gardner, Alison E; Corbett, Mark A; Gécz, Jozef; Thomas, Paul Q; Mulley, John C; Berkovic, Samuel F; Scheffer, Ingrid E; Dibbens, Leanne M.

Am J Hum Genet ; 90(1): 152-60, 2012 Jan 13.

Artigo em Inglês | MEDLINE | ID: mdl-22243967

4.

A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia.

Corbett, Mark A; Schwake, Michael; Bahlo, Melanie; Dibbens, Leanne M; Lin, Meng; Gandolfo, Luke C; Vears, Danya F; O'Sullivan, John D; Robertson, Thomas; Bayly, Marta A; Gardner, Alison E; Vlaar, Annemarie M; Korenke, G Christoph; Bloem, Bastiaan R; de Coo, Irenaeus F; Verhagen, Judith M A; Lehesjoki, Anna-Elina; Gecz, Jozef; Berkovic, Samuel F.

Am J Hum Genet ; 88(5): 657-63, 2011 May 13.

Artigo em Inglês | MEDLINE | ID: mdl-21549339

5.

Compromised transcription-mRNA export factor THOC2 causes R-loop accumulation, DNA damage and adverse neurodevelopment.

Bhattacharjee, Rudrarup; Jolly, Lachlan A; Corbett, Mark A; Wee, Ing Chee; Rao, Sushma R; Gardner, Alison E; Ritchie, Tarin; van Hugte, Eline J H; Ciptasari, Ummi; Piltz, Sandra; Noll, Jacqueline E; Nazri, Nazzmer; van Eyk, Clare L; White, Melissa; Fornarino, Dani; Poulton, Cathryn; Baynam, Gareth; Collins-Praino, Lyndsey E; Snel, Marten F; Nadif Kasri, Nael; Hemsley, Kim M; Thomas, Paul Q; Kumar, Raman; Gecz, Jozef.

Nat Commun ; 15(1): 1210, 2024 Feb 08.

Artigo em Inglês | MEDLINE | ID: mdl-38331934

6.

A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24.

Corbett, Mark A; Bahlo, Melanie; Jolly, Lachlan; Afawi, Zaid; Gardner, Alison E; Oliver, Karen L; Tan, Stanley; Coffey, Amy; Mulley, John C; Dibbens, Leanne M; Simri, Walid; Shalata, Adel; Kivity, Sara; Jackson, Graeme D; Berkovic, Samuel F; Gecz, Jozef.

Am J Hum Genet ; 87(3): 371-5, 2010 Sep 10.

Artigo em Inglês | MEDLINE | ID: mdl-20797691

7.

Aicardi Syndrome Is a Genetically Heterogeneous Disorder.

Ha, Thuong T; Burgess, Rosemary; Newman, Morgan; Moey, Ching; Mandelstam, Simone A; Gardner, Alison E; Ivancevic, Atma M; Pham, Duyen; Kumar, Raman; Smith, Nicholas; Patel, Chirag; Malone, Stephen; Ryan, Monique M; Calvert, Sophie; van Eyk, Clare L; Lardelli, Michael; Berkovic, Samuel F; Leventer, Richard J; Richards, Linda J; Scheffer, Ingrid E; Gecz, Jozef; Corbett, Mark A.

Genes (Basel) ; 14(8)2023 07 31.

Artigo em Inglês | MEDLINE | ID: mdl-37628618

8.

Association of SLC32A1 Missense Variants With Genetic Epilepsy With Febrile Seizures Plus.

Heron, Sarah E; Regan, Brigid M; Harris, Rebekah V; Gardner, Alison E; Coleman, Matthew J; Bennett, Mark F; Grinton, Bronwyn E; Helbig, Katherine L; Sperling, Michael R; Haut, Sheryl; Geller, Eric B; Widdess-Walsh, Peter; Pelekanos, James T; Bahlo, Melanie; Petrovski, Slavé; Heinzen, Erin L; Hildebrand, Michael S; Corbett, Mark A; Scheffer, Ingrid E; Gécz, Jozef; Berkovic, Samuel F.

Neurology ; 96(18): e2251-e2260, 2021 05 04.

Artigo em Inglês | MEDLINE | ID: mdl-34038384

9.

Missense variant contribution to USP9X-female syndrome.

Jolly, Lachlan A; Parnell, Euan; Gardner, Alison E; Corbett, Mark A; Pérez-Jurado, Luis A; Shaw, Marie; Lesca, Gaetan; Keegan, Catherine; Schneider, Michael C; Griffin, Emily; Maier, Felicitas; Kiss, Courtney; Guerin, Andrea; Crosby, Kathleen; Rosenbaum, Kenneth; Tanpaiboon, Pranoot; Whalen, Sandra; Keren, Boris; McCarrier, Julie; Basel, Donald; Sadedin, Simon; White, Susan M; Delatycki, Martin B; Kleefstra, Tjitske; Küry, Sébastien; Brusco, Alfredo; Sukarova-Angelovska, Elena; Trajkova, Slavica; Yoon, Sehoun; Wood, Stephen A; Piper, Michael; Penzes, Peter; Gecz, Jozef.

NPJ Genom Med ; 5(1): 53, 2020 Dec 09.

Artigo em Inglês | MEDLINE | ID: mdl-33298948

10.

Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor.

Kumar, Raman; Palmer, Elizabeth; Gardner, Alison E; Carroll, Renee; Banka, Siddharth; Abdelhadi, Ola; Donnai, Dian; Elgersma, Ype; Curry, Cynthia J; Gardham, Alice; Suri, Mohnish; Malla, Rishikesh; Brady, Lauren Ilana; Tarnopolsky, Mark; Azmanov, Dimitar N; Atkinson, Vanessa; Black, Michael; Baynam, Gareth; Dreyer, Lauren; Hayeems, Robin Z; Marshall, Christian R; Costain, Gregory; Wessels, Marja W; Baptista, Julia; Drummond, James; Leffler, Melanie; Field, Michael; Gecz, Jozef.

Front Mol Neurosci ; 13: 12, 2020.

Artigo em Inglês | MEDLINE | ID: mdl-32116545

11.

Erratum: Author Correction: Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy.

Corbett, Mark A; van Eyk, Clare L; Webber, Dani L; Bent, Stephen J; Newman, Morgan; Harper, Kelly; Berry, Jesia G; Azmanov, Dimitar N; Woodward, Karen J; Gardner, Alison E; Slee, Jennie; Pérez-Jurado, Luís A; MacLennan, Alastair H; Gecz, Jozef.

NPJ Genom Med ; 4: 11, 2019.

Artigo em Inglês | MEDLINE | ID: mdl-31231543

12.

Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy.

Corbett, Mark A; van Eyk, Clare L; Webber, Dani L; Bent, Stephen J; Newman, Morgan; Harper, Kelly; Berry, Jesia G; Azmanov, Dimitar N; Woodward, Karen J; Gardner, Alison E; Slee, Jennie; Pérez-Jurado, Luís A; MacLennan, Alastair H; Gecz, Jozef.

NPJ Genom Med ; 3: 33, 2018.

Artigo em Inglês | MEDLINE | ID: mdl-30564460

13.

Eat your vegetables.

Gardner, Alison E.

Oncology (Williston Park) ; 26(6): 585-6, 2012 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-22870543

14.

CBFA2T3 (MTG16) is a putative breast tumor suppressor gene from the breast cancer loss of heterozygosity region at 16q24.3.

Kochetkova, Marina; McKenzie, Olivia L D; Bais, Anthony J; Martin, Julie M; Secker, Genevieve A; Seshadri, Ram; Powell, Jason A; Hinze, Susan J; Gardner, Alison E; Spendlove, Hayley E; O'Callaghan, Nathan J; Cleton-Jansen, Anne-Marie; Cornelisse, Cees; Whitmore, Scott A; Crawford, Joanna; Kremmidiotis, Gabriel; Sutherland, Grant R; Callen, David F.

Cancer Res ; 62(16): 4599-604, 2002 Aug 15.

Artigo em Inglês | MEDLINE | ID: mdl-12183414

15.

Aberrant CBFA2T3B gene promoter methylation in breast tumors.

Bais, Anthony J; Gardner, Alison E; McKenzie, Olivia L D; Callen, David F; Sutherland, Grant R; Kremmidiotis, Gabriel.

Mol Cancer ; 3: 22, 2004 Aug 10.

Artigo em Inglês | MEDLINE | ID: mdl-15301688

16.

Mutations in DEPDC5 cause familial focal epilepsy with variable foci.

Dibbens, Leanne M; de Vries, Boukje; Donatello, Simona; Heron, Sarah E; Hodgson, Bree L; Chintawar, Satyan; Crompton, Douglas E; Hughes, James N; Bellows, Susannah T; Klein, Karl Martin; Callenbach, Petra M C; Corbett, Mark A; Gardner, Alison E; Kivity, Sara; Iona, Xenia; Regan, Brigid M; Weller, Claudia M; Crimmins, Denis; O'Brien, Terence J; Guerrero-López, Rosa; Mulley, John C; Dubeau, Francois; Licchetta, Laura; Bisulli, Francesca; Cossette, Patrick; Thomas, Paul Q; Gecz, Jozef; Serratosa, Jose; Brouwer, Oebele F; Andermann, Frederick; Andermann, Eva; van den Maagdenberg, Arn M J M; Pandolfo, Massimo; Berkovic, Samuel F; Scheffer, Ingrid E.

Nat Genet ; 45(5): 546-51, 2013 May.

Artigo em Inglês | MEDLINE | ID: mdl-23542697

17.

The de novo chromosome 16 translocations of two patients with abnormal phenotypes (mental retardation and epilepsy) disrupt the A2BP1 gene.

Bhalla, Kavita; Phillips, Hilary A; Crawford, Joanna; McKenzie, Olivia L D; Mulley, John C; Eyre, Helen; Gardner, Alison E; Kremmidiotis, Gabriel; Callen, David F.

J Hum Genet ; 49(6): 308-311, 2004.

Artigo em Inglês | MEDLINE | ID: mdl-15148587

18.

Sequencing, transcript identification, and quantitative gene expression profiling in the breast cancer loss of heterozygosity region 16q24.3 reveal three potential tumor-suppressor genes.

Powell, Jason A; Gardner, Alison E; Bais, Anthony J; Hinze, Susan J; Baker, Elizabeth; Whitmore, Scott; Crawford, Joanna; Kochetkova, Marina; Spendlove, Hayley E; Doggett, Norman A; Sutherland, Grant R; Callen, David F; Kremmidiotis, Gabriel.

Genomics ; 80(3): 303-10, 2002 Sep.

Artigo em Inglês | MEDLINE | ID: mdl-12213200

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