Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Oliver W. Quarrell"'
Autor:
Harold S. Matthews, Richard L. Palmer, Gareth S. Baynam, Oliver W. Quarrell, Ophir D. Klein, Richard A. Spritz, Raoul C. Hennekam, Susan Walsh, Mark Shriver, Seth M. Weinberg, Benedikt Hallgrimsson, Peter Hammond, Anthony J. Penington, Hilde Peeters, Peter D. Claes
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-12 (2021)
Abstract Craniofacial dysmorphism is associated with thousands of genetic and environmental disorders. Delineation of salient facial characteristics can guide clinicians towards a correct clinical diagnosis and understanding the pathogenesis of the d
Externí odkaz:
https://doaj.org/article/9ea19e482b9a40fb850f0d90987b746d
Autor:
Lucy Loong, Agostina Tardivo, Alexej Knaus, Mona Hashim, Alistair T. Pagnamenta, Kerstin Alt, Helena Böhrer-Rabel, Alfonso Caro-Llopis, Trevor Cole, Felix Distelmaier, Patrick Edery, Carlos R. Ferreira, Aleksandra Jezela-Stanek, Bronwyn Kerr, Gerhard Kluger, Peter M. Krawitz, Marius Kuhn, Johannes R. Lemke, Gaetan Lesca, Sally Ann Lynch, Francisco Martinez, Caroline Maxton, Hanna Mierzewska, Sandra Monfort, Joost Nicolai, Carmen Orellana, Deb K. Pal, Rafał Płoski, Oliver W. Quarrell, Monica Rosello, Małgorzata Rydzanicz, Ataf Sabir, Robert Śmigiel, Alexander P.A. Stegmann, Helen Stewart, Constance Stumpel, Elżbieta Szczepanik, Andreas Tzschach, Lynne Wolfe, Jenny C. Taylor, Yoshiko Murakami, Taroh Kinoshita, Allan Bayat, Usha Kini
Publikováno v:
Genetics in Medicine, 25(1), 37-48. Nature Publishing Group
PURPOSE: Biallelic PIGN variants have been described in Fryns syndrome, multiple congenital anomalies-hypotonia-seizure syndrome (MCAHS), and neurologic phenotypes. The full spectrum of clinical manifestations in relation to the genotypes is yet to b
Autor:
Ophir D. Klein, Peter Hammond, Raoul C.M. Hennekam, Anthony J. Penington, Richard A. Spritz, Benedikt Hallgrímsson, Seth M. Weinberg, Susan Walsh, Harold Matthews, Oliver W. Quarrell, Gareth Baynam, Richard Palmer, Peter Claes, Hilde Peeters, Mark D. Shriver
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-12 (2021)
Scientific reports, vol 11, iss 1
Scientific reports, 11(1):12175. Nature Publishing Group
Scientific Reports
Scientific reports, vol 11, iss 1
Scientific reports, 11(1):12175. Nature Publishing Group
Scientific Reports
Craniofacial dysmorphism is associated with thousands of genetic and environmental disorders. Delineation of salient facial characteristics can guide clinicians towards a correct clinical diagnosis and understanding the pathogenesis of the disorder.
Autor:
Cecilia Compton, Mary O'Driscoll, Sian Jenkins, Rhona MacLeod, Angus John Clarke, Nayana Lahiri, Oliver W. Quarrell, Hannah Musgrave, Alan Fryer, Patrick J. Morrison, Martine J. van Belzen, Christine E. M. de Die-Smulders, Zosia Miedzybrodzka, Corien C. Verschuuren-Bemelmans, Mark Strong, Emilia K. Bijlsma, Sascha Vermeer
Publikováno v:
American Journal of Medical Genetics Part B-neuropsychiatric Genetics, 177(1), 35-39. Wiley
American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 177(1), 35-39. Wiley
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 177(1), 35-39
American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 177(1), 35-39. Wiley
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 177(1), 35-39
A consistent feature of predictive testing guidelines for Huntington's disease (HD) is the recommendation not to undertake predictive tests on those
Autor:
Rhona MacLeod, Nayana Lahiri, Oliver W. Quarrell, Zosia Miedzybrodzka, Martin B. Delatycki, Charlotte Tomlinson, Angus John Clarke, David Craufurd, Pamela Renwick
Publikováno v:
Journal of Huntington's Disease. 8:357-359
Autor:
Jenny, Lord, Dominic J, McMullan, Ruth Y, Eberhardt, Gabriele, Rinck, Susan J, Hamilton, Elizabeth, Quinlan-Jones, Elena, Prigmore, Rebecca, Keelagher, Sunayna K, Best, Georgina K, Carey, Rhiannon, Mellis, Sarah, Robart, Ian R, Berry, Kate E, Chandler, Deirdre, Cilliers, Lara, Cresswell, Sandra L, Edwards, Carol, Gardiner, Alex, Henderson, Simon T, Holden, Tessa, Homfray, Tracy, Lester, Rebecca A, Lewis, Ruth, Newbury-Ecob, Katrina, Prescott, Oliver W, Quarrell, Simon C, Ramsden, Eileen, Roberts, Dagmar, Tapon, Madeleine J, Tooley, Pradeep C, Vasudevan, Astrid P, Weber, Diana G, Wellesley, Paul, Westwood, Helen, White, Michael, Parker, Denise, Williams, Lucy, Jenkins, Richard H, Scott, Mark D, Kilby, Lyn S, Chitty, Matthew E, Hurles, Eamonn R, Maher, Elizabeth, Wilson
Publikováno v:
Prenatal Diagnosis
Lancet (London, England)
Lancet (London, England)
Background Fetal structural anomalies, which are detected by ultrasonography, have a range of genetic causes, including chromosomal aneuploidy, copy number variations (CNVs; which are detectable by chromosomal microarrays), and pathogenic sequence va
Autor:
Simon Holden, Angus John Clarke, Felicity Wadrup, Zosia Miedzybrodzka, Sara Pasalodos, Andrea H. Németh, Shan Owens, Rhona MacLeod, Oliver W. Quarrell
Publikováno v:
Eur J Hum Genet
Huntington’s disease (HD) is a severe neurodegenerative condition that impacts the whole family. Prenatal diagnosis by\ud direct or exclusion testing is available for couples at risk of transmitting HD to their children. An ethical problem can aris
Publikováno v:
Neurodegenerative disease management. 6(4)
The ascertained prevalence of Huntington's disease (HD) increased significantly following the provision of diagnostic testing. A systematic review was conducted to estimate the prevalence of HD in the post-diagnostic testing era. 22 studies with orig
Autor:
Sheharyar S Baig, Mark Strong, Elisabeth Rosser, Nicola V Taverner, Ruth Glew, Zosia Miedzybrodzka, Angus Clarke, David Craufurd, UK Huntington's Disease Prediction Consortium, Oliver W Quarrell
Huntington's disease (HD) is a progressive neurodegenerative condition. At-risk individuals have accessed predictive testing via direct mutation testing since 1993. The UK Huntington's Prediction Consortium has collected anonymised data on UK predict
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e48d5f1f7975df1e80a3ea3d8acffad7
https://europepmc.org/articles/PMC5027682/
https://europepmc.org/articles/PMC5027682/
Autor:
Jeremy J. O. Turner, Poloko D. Leotlela, Anna A. J. Pannett, Simon A. Forbes, J. H. Duncan Bassett, Brian Harding, Paul T. Christie, David Bowen-Jones, Sian Ellard, Andrew Hattersley, Charles E. Jackson, Richard Pope, Oliver W. Quarrell, Richard Trembath, Rajesh V. Thakker
Publikováno v:
The Journal of clinical endocrinology and metabolism. 87(6)
MEN1 is an autosomal dominant disorder characterized by parathyroid, pituitary, and pancreatic tumors. The MEN1 gene is located on chromosome 11q13 and encodes a 610-amino acid protein. MEN1 mutations are of diverse types and are scattered throughout