Zobrazeno 1 - 10
of 31
pro vyhledávání: '"Rahat Perveen"'
Autor:
Chloe Jade Ashton, Rahat Perveen, Glenda Beaman, Giangiorgio Crisponi, Ariadna González-Del Angel, Gilda Garza-Mayén, Miguel Angel Alcántara-Ortigoza, James O’Sullivan, Jill Clayton-Smith
Publikováno v:
Clinical dysmorphology. 32(1)
The 3MC syndromes types 1-3 (MIM#257920, 265050 and 248340, respectively) are rare autosomal recessive genetic disorders caused by pathogenic variants in genes encoding the lectin complement pathway. Patients with 3MC syndrome have a distinctive faci
Autor:
Selina Mcharg, Laura Booth, Rahat Perveen, Isabel Riba Garcia, Nicole Brace, Nadhim Bayatti, Panagiotis I. Sergouniotis, Alexander M. Phillips, Anthony J. Day, Graeme C. M. Black, Simon J. Clark, Andrew W. Dowsey, Richard D. Unwin, Paul N. Bishop
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America
Age-related macular degeneration (AMD) is a leading cause of visual loss. It has a strong genetic basis, and common haplotypes on chromosome (Chr) 1 (CFH Y402H variant) and on Chr10 (near HTRA1/ARMS2) contribute the most risk. Little is known about t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9974eae92af93fc4602c96f95d27da5f
http://livrepository.liverpool.ac.uk/3156385/1/547377_2_merged_1650304113.pdf
http://livrepository.liverpool.ac.uk/3156385/1/547377_2_merged_1650304113.pdf
Autor:
null Alistair T. Pagnamenta, null Adam Jackson, null Rahat Perveen, null Glenda Beaman, null Gemma Petts, null Asheeta Gupta, null Zerin Hyder, null Brian Hon‐Yin Chung, null Anita Sik‐Yau Kan, null Ka Wang Cheung, null Wilhelmina S. Kerstjens‐Frederikse, null Kristin M. Abbott, null John C. Ambrose, null Prabhu Arumugam, null Roel Bevers, null Marta Bleda, null Freya Boardman‐Pretty, null Christopher R. Boustred, null Helen Brittain, null Mark J. Caulfield, null Georgia C. Chan, null Greg Elgar, null Tom Fowler, null Adam Giess, null Angela Hamblin, null Shirley Henderson, null Tim J. P. Hubbard, null Rob Jackson, null Louise J. Jones, null Dalia Kasperaviciute, null Melis Kayikci, null Athanasios Kousathanas, null Lea Lahnstein, null Sarah E. A. Leigh, null Ivonne U. S. Leong, null Javier F. Lopez, null Fiona Maleady‐Crowe, null Meriel McEntagart, null Federico Minneci, null Loukas Moutsianas, null Michael Mueller, null Nirupa Murugaesu, null Anna C. Need, null Peter O′Donovan, null Chris A. Odhams, null Christine Patch, null Mariana Buongermino Pereira, null Daniel Perez‐Gil, null John Pullinger, null Tahrima Rahim, null Augusto Rendon, null Tim Rogers, null Kevin Savage, null Kushmita Sawant, null Richard H. Scott, null Afshan Siddiq, null Alexander Sieghart, null Samuel C. Smith, null Alona Sosinsky, null Alexander Stuckey, null Mélanie Tanguy, null Ana Lisa Taylor Tavares, null Ellen R. A. Thomas, null Simon R. Thompson, null Arianna Tucci, null Matthew J. Welland, null Eleanor Williams, null Katarzyna Witkowska, null Suzanne M. Wood, null Orly Elpeleg, null Jenny C. Taylor, null Siddharth Banka, null Asaf Ta‐Shma, null Genomics England Research Consortium
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::538351116d337271a32222545c4dbf6b
https://doi.org/10.1111/cge.14071/v2/response1
https://doi.org/10.1111/cge.14071/v2/response1
Publikováno v:
Faily, S, Perveen, R, Urquhart, J, Chandler, K & Clayton-Smith, J 2017, ' Confirmation that mutations in DDX59 cause an autosomal recessive form of oral-facial-digital syndrome : Further delineation of the DDX59 phenotype in two new families ', European journal of medical genetics . https://doi.org/10.1016/j.ejmg.2017.07.009
We report three probands from two unrelated consanguineous families of South Asian origin who all carry the same rare novel homozygous variant within the dead box helicase gene DDX59 in association with features of oral-facial-digital syndrome (OFDS)
Autor:
Stephen A Roberts, Rahat Perveen, William G. Newman, Georgina Hall, Simon C Ramsden, Simon G. Williams, Andrea H. Németh, Graeme C.M. Black, Rick Tearle, Stephanie Barton, Janine A. Lamb, James O'Sullivan, Jamie M Ellingford, Sanjeev S. Bhaskar, Rick Leach, Panagiotis I. Sergouniotis, Stuart Bayliss, Paul N. Bishop
Publikováno v:
Ellingford, J, Barton, S, Bhaskar, S, Williams, S, Sergouniotis, P, O'Sullivan, J, Lamb, J, Perveen, R, Hall, G, Newman, W, Bishop, P, Roberts, S, Leach, R, Tearle, R, Bayliss, S, Ramsden, S, Nemeth, A H & Black, G 2016, ' Whole genome sequencing increases molecular diagnostic yield compared with current diagnostic testing for inherited retinal disease ', Ophthalmology, vol. 123, no. 5, pp. 1143–1150 . https://doi.org/10.1016/j.ophtha.2016.01.009
Ophthalmology
Ophthalmology
PURPOSE:To compare the efficacy of whole genome sequencing (WGS) with targeted next-generation sequencing (NGS) in the diagnosis of inherited retinal disease (IRD).DESIGN:Case series.PARTICIPANTS:A total of 562 patients diagnosed with IRD.METHODS:We
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed636f1de891f96e5d07d7549938e2d6
https://doi.org/10.1016/j.ophtha.2016.01.009
https://doi.org/10.1016/j.ophtha.2016.01.009
Autor:
Sergouniotis, Panagiotis, Barton, Stephanie, Waller, Sarah, Rahat Perveen, Ellingford, Jamie, Campbell, Christopher, Hall, Georgina, Gillespie, Rachel, Bhaskar, Sanjeev, Ramsden, Simon, Black, Graeme, Lovell, Simon
Table S1. Genes and transcripts included in multigene panel tests for retinal dystrophy and childhood cataracts. Table S2. Clinical and in silico evaluation of small (⠤21 nucleotides) in-frame insertions/deletions identified by panel-based gene
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::09a47850448b4ccf003acf7cc772824f
Autor:
Rahat Perveen, Graeme C.M. Black, Robert Buttery, Lisa S. Kearns, Thomas L Edwards, Benjamin Burt, David A. Mackey, Carmel Toomes, Sandra E Staffieri
Publikováno v:
Clinical & Experimental Ophthalmology. 40:476-483
Background: To characterize the clinical and genetic abnormalities within two Australian pedigrees with high incidences of retinal detachment and visual disability. Design: Prospective review of two extended Australian pedigrees with high rates of re
Autor:
Carol A. Giblin, Dian Donnai, Emma Burkitt Wright, Graeme C.M. Black, Peter E. Clayton, Catherine M. Hall, Teresa Costa, Rahat Perveen, Annie M. Procter
Publikováno v:
Clinical Dysmorphology. 18:218-221
Isolated growth hormone (GH) deficiency (IGHD) resulting in short stature has an estimated birth incidence of 1 out of 4000-10000 (Millar et al., 2003) and is usually sporadic, but monogenic forms are known. Involvement of a number of autosomal genes
Autor:
Florence Dastot-Le-Moal, Pierre Bitoun, Kathreen Johnston, François-Guillaume Debray, Nobuhiko Okamoto, Beverly N. Hay, Jennifer J. Johnston, Leslie G. Biesecker, Chiharu Torii, Odile Boute, Marion Gérard, Josiane Martin, Sylvie Manouvrier, Rahat Perveen, Michel Goossens, Hiroshi Kohara, Emma Hilton, Kenjiro Kosaki, Anthony T. Moore, Graeme C.M. Black, Michael Lyons, Yoshikazu Hatsukawa, David R. FitzPatrick, Irina Giurgea, Johannes Lemke, Juntaro Nishio, John W. Belmont, Deborah Bartholdi, Sandra Whalen, Kim Jenny, Caroline J Law, Albert Schinzel, Seiji Mizuno, Tanya Bardakjian, Alain Verloes, Florence Fellmann, Yoshiko Hirano
Publikováno v:
Hilton, E, Johnston, J, Whalen, S, Okamoto, N, Hatsukawa, Y, Nishio, J, Kohara, H, Hirano, Y, Mizuno, S, Torii, C, Kosaki, K, Manouvrier, S, Boute, O, Perveen, R, Law, C, Moore, A, Fitzpatrick, D, Lemke, J, Fellmann, F, Debray, F-G, Dastot-Le-Moal, F, Gerard, M, Martin, J, Bitoun, P, Goossens, M, Verloes, A, Schinzel, A, Bartholdi, D, Bardakjian, T, Hay, B, Jenny, K, Johnston, K, Lyons, M, Belmont, J W, Biesecker, L G, Giurgea, I & Black, G 2009, ' BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects ', European Journal of Human Genetics, vol. 17, no. 10, pp. 1325-35 . https://doi.org/10.1038/ejhg.2009.52
Oculofaciocardiodental (OFCD) and Lenz microphthalmia syndromes form part of a spectrum of X-linked microphthalmia disorders characterized by ocular, dental, cardiac and skeletal anomalies and mental retardation. The two syndromes are allelic, caused
Autor:
Graeme C.M. Black, Indraneel Banerjee, Rahat Perveen, Dan Hanson, Peter E. Clayton, A. J. Whatmore
Publikováno v:
European Journal of Endocrinology. 158:473-477
ObjectivesConstitutional delay of growth and puberty (CDGP) is a common clinical condition that may be inherited as an autosomal dominant, recessive or X-linked trait. However, single-gene defects underlying CDGP have not yet been identified. A small