Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Elizabeth Quinlan-Jones"'
Autor:
Malgorzata Drozniewska, Mark D. Kilby, Julie Vogt, Fiona Togneri, Elizabeth Quinlan‐Jones, Lisa Reali, Stephanie Allen, Dominic McMullan
Publikováno v:
Clinical Case Reports, Vol 8, Iss 3, Pp 508-511 (2020)
Abstract Nager syndrome is a rare, complex malformation syndrome, for which there is limited information on prenatal genetic testing. Clinical diagnosis of Nager syndrome, which can be caused by deletions encompassing SF3B4 gene, is possible prenatal
Externí odkaz:
https://doaj.org/article/4db604e4442b4ed18509dc6bb8643c52
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::128f07aba6242d5632b16539941083e5
https://doi.org/10.1530/ey.16.14.14
https://doi.org/10.1530/ey.16.14.14
Autor:
Stephanie Allen, Arthur L. Beaudet, D. Stephen Charnock-Jones, S.H. Cheng, Angus Clarke, Caroline S. Clarke, Frederik B. Clausen, Guido de Wert, Zandra C. Deans, Y.M. Dennis Lo, Wybo Dondorp, Jane Fisher, Francesca Gaccioli, Amy Gerrish, T. Harasim, Verena Haselmann, Ros J. Hastings, Lidewij Henneman, Emma Hudson, Mark D. Kilby, Fiona L. Mackie, Stephen Morris, Dale Muzzey, Maria Neofytou, D. Oepkes, Pranav Pandya, Mark D. Pertile, Elizabeth Quinlan-Jones, Adalina Sacco, Peter W. Schenk, Gordon C.S. Smith, C. Ellen van der Schoot, Carla van El, Joris Robert Vermeesch, E.J.T. Verweij, Liesbeth Vossaert, A. Wagner, Dian Winkelhorst, Nicola Wolstenholme, Elizabeth Young
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::15146c65337843074892ce1441e0353d
https://doi.org/10.1016/b978-0-12-814189-2.09991-6
https://doi.org/10.1016/b978-0-12-814189-2.09991-6
Autor:
Elizabeth, Quinlan-Jones, Mark D, Kilby, Sheila, Greenfield, Michael, Parker, Dominic, McMullan, Matthew E, Hurles, Sarah C, Hillman
Publikováno v:
Prenatal diagnosis. 36(10)
Focus groups were conducted with individuals involved in prenatal diagnosis to determine their opinions relating to whole exome sequencing in fetuses with structural anomalies.Five representatives of patient groups/charities (PRGs) and eight clinical
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::73513f49a909dc8bb795b768eccb9d6b
https://pubmed.ncbi.nlm.nih.gov/27550507
https://pubmed.ncbi.nlm.nih.gov/27550507