Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Deborah Morrogh"'
Publikováno v:
Journal of Clinical Medicine, Vol 3, Iss 2, Pp 663-678 (2014)
The advantage of microarray (array) over conventional karyotype for the diagnosis of fetal pathogenic chromosomal anomalies has prompted the use of microarrays in prenatal diagnostics. In this review we compare the performance of different array plat
Externí odkaz:
https://doaj.org/article/794c8d582a1f4399ab501cf4212d308a
Autor:
Daniël A. Lionarons, Davide Zecchin, Jeffrey R. MacDonald, Wei-Li Di, Hui Chen, Miriam Molina, Stuart Horswell, Gemma Tell, Véronique Bataille, Dale Bryant, Julia Newton-Bishop, Philip Stanier, Gudrun E. Moore, Kiran Parmar, Josep Malvehy, Catherine A. Harwood, Satyamaanasa Polubothu, Cristina Carrera, Jérémie Nsengimana, Veronica A. Kinsler, Julian Downward, Nathan Wlodarchak, Alan Pittman, Susana Puig, Yongna Xing, Neil J. Sebire, Anna C. Thomas, Mark Harland, L. Al-Olabi, Mehdi Zarrei, Michael Howell, Sarah Brand, Paulina Stadnik, Stephen W. Scherer, Lilian Hunt, Eugene Healy, Dale Moulding, Paula Aguilera, J.A. Puig-Butillé, Deborah Morrogh, Vanessa Martins da Silva, Sam Loughlin, Regula Waelchli, Sara Martin Barberan, Greg Elgar, Lionel Larue
Publikováno v:
Genetics in medicine, 23(9), 1636-1647. Lippincott Williams and Wilkins
Genetics in Medicine
Genetics in Medicine
Purpose\ud Much of the heredity of melanoma remains unexplained. We sought predisposing germline copy-number variants using a rare disease approach.\ud \ud Methods\ud Whole-genome copy-number findings in patients with melanoma predisposition syndrome
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1cf020b972091ef0da9c25d686d2a0a5
https://pure.amc.nl/en/publications/inherited-duplications-of-ppp2r3b-predispose-to-nevi-and-melanoma-via-a-c21orf91driven-proliferative-phenotype(c7c1481a-d0e0-4090-8d51-8c03bd58e817).html
https://pure.amc.nl/en/publications/inherited-duplications-of-ppp2r3b-predispose-to-nevi-and-melanoma-via-a-c21orf91driven-proliferative-phenotype(c7c1481a-d0e0-4090-8d51-8c03bd58e817).html
Autor:
Lara Menzies, Ajith Kumar, Emma Clement, Andrew Buckton, Jane A. Hurst, Thomas Cullup, Deborah Morrogh
Publikováno v:
Abstracts.
Great Ormond Street Hospital has been a pioneer in offering Whole Genome Sequencing (WGS) to children with complex medical problems, for example through huge recruitment to the 100,000 Genome Study. Genetic technologies herald great diagnostic promis
Autor:
Jane A. Hurst, Emma Clement, Richard H Scott, Emma Ashton, F Faravelli, Eleanor Hay, Deborah Morrogh, Lyn S. Chitty, Patrick Lombard, Ajith Kumar, Andrew Buckton
Publikováno v:
Abstracts.
Rare diseases, particularly those with great phenotypic and genetic heterogeneity, remain a diagnostic challenge. Broadening the investigative approach through whole genome sequencing (WGS) is anticipated to improve diagnostic yield. Despite this, su
Autor:
Gemma Tell, Michael Howell, L. Al-Olabi, Julia Newton-Bishop, Josep Malvehy, Susana Puig, Mark Harland, Lilian Hunt, Yongna Xing, Sam Loughlin, Jérémie Nsengimana, Gudrun E. Moore, Regula Waelchli, Lionel Larue, Veronica A. Kinsler, Wei-Li Di, Julian Downward, Anna C. Thomas, Dale Bryant, Catherine A. Harwood, Daniël A. Lionarons, Dale Moulding, Paula Aguilera, Satyamaanasa Polubothu, Greg Elgar, Sarah Brand, Eugene Healy, Cristina Carrera, Philip L. Beales, Paulina Stadnik, Davide Zecchin, Vanessa Martins da Silva, Mehdi Zarrei, Dagan Jenkins, Neil J. Sebire, Véronique Bataille, Stephen W. Scherer, Alan Pittman, Sara Martin Barberan, Juan-Anton Puig-Butillé, Deborah Morrogh, Nathan Wlodarchak, Philip Stanier, Miriam Molina, Jeffrey R. MacDonald, Stuart Horswell, Hui Chen, Kiran Parmar
The majority of the heredity of melanoma remains unexplained, however inherited copy number changes have not yet been systematically studied. The genetic environment is highly relevant to treatment stratification, and new gene discovery is therefore
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e09f513bc2b8b1d8046d1663a4b98ebd
https://doi.org/10.1101/672576
https://doi.org/10.1101/672576
Autor:
N. Moreno, Melissa Lees, Miho Ishida, Debbie Sell, Emma Peskett, Rimante Seselgyte, Deborah Morrogh, Philip Stanier, Gudrun E. Moore, Charalambos Demetriou, Dale Bryant, Erwin Pauws, Martin Farrall, Brian C. Sommerlad
This study investigated the genetic basis of an unusual autosomal dominant phenotype characterized by familial absent uvula, with a short posterior border of the soft palate, abnormal tonsillar pillars, and velopharyngeal insufficiency. Cytogenetic a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74cca4637eb8697b7e7111c11fe8da7c
https://europepmc.org/articles/PMC6535918/
https://europepmc.org/articles/PMC6535918/
Autor:
Thomas S. Jacques, W. Kling Chong, J. Eduardo Calonje, Satyamanaasa Polubothu, Veronica A. Kinsler, Deborah Morrogh, Dominic Thompson
Publikováno v:
Acta Neuropathologica
Autor:
Fiona Farrell, Antonietta Coppola, Jonathan J. Waters, S. Krithika, Laura Hernandez-Hernandez, Deborah Morrogh, Josemir W. Sander, Sanjay M. Sisodiya, Simona Balestrini
Publikováno v:
Molecular syndromology. 9(1)
Chromosomal abnormalities are often identified in people with neurodevelopmental disorders including intellectual disability, autism, and epilepsy. Ring chromosomes, which usually involve gene copy number loss, are formed by fusion of subtelomeric or
Autor:
Brian T. Wilson, Vasiliki Nakou, Henry Houlden, Angela Barnicoat, Joost Nicolai, Miriam S. Reuter, Patrick Rump, F Lucy Raymond, Nicholas W. Wood, Serena Barral, Sanjay Bhate, Jonathan R. Chubb, Manju A. Kurian, Michèl A.A.P. Willemsen, Esther Meyer, André Reis, Nicola Foulds, Shekeeb S Mohammed, Kathryn J. Peall, Patricia Limousin, Apostolos Papandreou, Margaret Kaminska, Magnus Nilsson, Russell C. Dale, Susan M. White, Paul Gissen, Hilla Ben-Pazi, Gregory Peters, Christopher Wragg, Zvi Israel, Jean-Pierre Lin, Sarah Wiethoff, Simon Pope, Deciphering Developmental Disorders Study, William A. Gahl, Alan Pittman, Niccolo E. Mencacci, Wui K. Chong, Margje Sinnema, Dagmar Wieczorek, Erik-Jan Kamsteeg, Martin Smith, A. Hills, John M.E. Nichols, Shane McKee, Keren J. Carss, Maya Topf, S Heales, Gidon Winter, Amber Boys, Hardev Pall, Peter D. Turnpenny, Camilo Toro, Julia Rankin, Jane A. Hurst, Reeval Segel, Nicholas Gutowski, Hagai Bergman, Niklas Darin, Shibalik Misra, Lucinda Carr, Agnel Praveen Joseph, Joanne Ng, Deborah Morrogh, David Arkadir, Detelina Grozeva, Adeline Ngoh, Daniel E. Lumsden, Belén Pérez-Dueñas, Prab Prabhakar, Kailash P. Bhatia
Publikováno v:
Nature Genetics, 49, 223-237
Nature Genetics, 49(2), 223-237. Nature Publishing Group
Nature Genetics, 49, 2, pp. 223-237
Nature Genetics, 49(2), 223-237. Nature Publishing Group
Nature Genetics, 49, 2, pp. 223-237
Item does not contain fulltext Histone lysine methylation, mediated by mixed-lineage leukemia (MLL) proteins, is now known to be critical in the regulation of gene expression, genomic stability, cell cycle and nuclear architecture. Despite MLL protei
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57c4afa1a02017040dfcd473edd7a70e
http://hdl.handle.net/2066/169757
http://hdl.handle.net/2066/169757
Publikováno v:
Case Reports in Genetics, Vol 2017 (2017)
Case Reports in Genetics
Case Reports in Genetics
Interstitial deletions of 4q are rarely reported, vary in size, and have limited genotype-phenotype correlations. Here, genome-wide array CGH analysis identified a 21.6 Mb region of copy number loss at 4q12-q21.1 in a patient diagnosed with dysmorphi