Zobrazeno 1 - 10
of 360
pro vyhledávání: '"Chitty, LS"'
Autor:
Hunter, A, Lewis, C, Hill, M, Chitty, LS, Leeson-Beevers, K, McInnes-Dean, H, Harvey, K, Pichini, A, Ormondroyd, E, Thomson, K
Public and patient involvement (PPI) - the collaboration in research with members of the public and patients with relevant experience - is becoming well established in health service research in the UK. It is supported by funders and academic institu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______1064::2b4402dfbd4d87a0b81b61f080952705
https://ora.ox.ac.uk/objects/uuid:e067818f-ab30-4472-8a22-9d1763aaf905
https://ora.ox.ac.uk/objects/uuid:e067818f-ab30-4472-8a22-9d1763aaf905
Autor:
Mone, F, McMullan, DJ, Williams, D, Chitty, LS, Maher, ER, Kilby, MD, Fetal Genomics Steering Group of the British Society for Genetic Medicine, Royal College of Obstetricians and Gynaecologists
Structural differences (congenital anomalies) in the makeup of the baby's heart, brain and other organs are found on antenatal ultrasound scans in up to 3% of pregnancies. These often have a genetic cause, arising because of changes in the chromosome
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1804a07c8a6afc0c8f5017d618fd1c00
Autor:
Mellis, R, Eberhardt, RY, Hamilton, SJ, PAGE Consortium, McMullan, DJ, Kilby, MD, Maher, ER, Hurles, ME, Giordano, JL, Aggarwal, V, Goldstein, DB, Wapner, RJ, Chitty, LS
Funder: National Institute for Health Research (NIHR) Biomedical Research Centre, Great Ormond Street Hospital; Id: http://dx.doi.org/10.13039/501100019256
OBJECTIVE: To evaluate the utility of prenatal exome sequencing (ES) for isolated increas
OBJECTIVE: To evaluate the utility of prenatal exome sequencing (ES) for isolated increas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d927ba68607661de24123e35265fd97
https://www.repository.cam.ac.uk/handle/1810/327974
https://www.repository.cam.ac.uk/handle/1810/327974
Autor:
Mone, F, Eberhardt, RY, Hurles, ME, Mcmullan, DJ, Maher, ER, Lord, J, Chitty, LS, Dempsey, E, Homfray, T, Giordano, JL, Wapner, RJ, Sun, L, Sparks, TN, Norton, ME, Kilby, MD
OBJECTIVE: To determine the incremental yield of exome sequencing (ES) over chromosomal microarray analysis (CMA) or karyotyping in prenatally diagnosed non-immune hydrops fetalis (NIHF). METHODS: A prospective cohort study (comprising an extended gr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c94342afc479c71541ed3bbb40f01394
Autor:
Mone, F, Eberhardt, RY, Morris, RK, Hurles, ME, McMullan, DJ, Maher, ER, Lord, J, Chitty, LS, Giordano, JL, Wapner, RJ, Kilby, MD, CODE Study Collaborators
OBJECTIVE: To determine the incremental yield of antenatal exome sequencing (ES) over chromosomal microarray analysis (CMA) or conventional karyotyping in prenatally diagnosed congenital heart disease (CHD). METHODS: A prospective cohort study of 197
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4d2066530d2476b9af46cf720f84d37
https://www.repository.cam.ac.uk/handle/1810/310143
https://www.repository.cam.ac.uk/handle/1810/310143
Autor:
Greenhalgh L, Fowler T, Karen Temple, Kane Smith, Deshpande, Subramanian S. Ajay, Bourn D, Menzies L, James M. Polke, Pasko D, Polychronopoulos D, Augusto Rendon, Pietro Fratta, Madeleine Reilly, Daugherty L, Chitty Ls, Eggleton K, Raymond Fl, Thomas T. Warner, Paul Brennan, Sian Ellard, Denise L. Perry, Jill Davison, A. C. Need, Arianna Tucci, Prasad Korlipara Lv, Mark J. Caulfield, Meriel McEntagart, Huw R. Morris, Kikkeri N. Naresh, Jenny C. Taylor, Patrick F. Chinnery, Anette Schrag, Aditi Chawla, Deans Zc, Henry Houlden, Twiss P, Douglas A, Sheikh I, Jonathan M. Schott, Hill S, Moutsianas L, Nicholas W. Wood, Tanner Hagelstrom, Robinson R, D. Kasperaviciute, Faravelli F, Rajan, Kristina Ibáñez, Antonio Rueda Martin, Emma L. Baple, Robin Howard, Ellen M. McDonagh, Elisabeth Rosser, Oprych K, Richard Festenstein, John A. Sayer, Kailash P. Bhatia, Michael A. Eberle, Andrew D Mumford, Angus-Leppan H, Thomas E, Matilde Laura, McMullan D, Brittain H, Paola Giunti, Richard H. Scott, Wilson G, Taylor Tavares Al, Ryan J. Taft, Patch C, Hyder Z, Robyn Labrum, Almheiri G, Frances Flinter, Egor Dolzhenko, Santos L, Abbs S, William G. Newman, Jana Vandrovcova
BackgroundRepeat expansion (RE) disorders affect ~1 in 3000 individuals and are clinically heterogeneous diseases caused by expansions of short tandem DNA repeats. Genetic testing is often locus-specific, resulting in under diagnosis of atypical clin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::726e4fb0332468372a1aa969b249ce84
https://doi.org/10.1101/2020.11.06.371716
https://doi.org/10.1101/2020.11.06.371716
Publikováno v:
BJOG: An International Journal of Obstetrics & Gynaecology; Aug2021, Vol. 128 Issue 9, pe39-e50, 12p
Autor:
Chitty, LS, Hui, L, Ghidini, A, Levy, B, Deprest, J, Van Mieghem, T, Bianchi, DW, Chitty, L S, Bianchi, D W
Publikováno v:
Prenatal Diagnosis; Feb2020, Vol. 40 Issue 3, p287-293, 7p
Autor:
Lewis, C, Riddington, M, Hill, M, Arthurs, OJ, Hutchinson, JC, Chitty, LS, Bevan, C, Fisher, J, Ward, J, Sebire, NJ, Arthurs, O J, Hutchinson, J C, Chitty, L S, Sebire, N J
Publikováno v:
BJOG: An International Journal of Obstetrics & Gynaecology; May2019, Vol. 126 Issue 6, p745-753, 9p, 4 Charts
Autor:
Petersen, Olav Bjørn, Chitty, LS
Publikováno v:
Petersen, O B & Chitty, LS 2010, Prenatal Diagnosis of Craniosynostosis . in R Hayward, B Jones & R Dunaway (eds), The Clinical Management of Craniosynostosis . vol. 1 .
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pure_au_____::26a4ddeaf928030855c80798ff5ad415
https://pure.au.dk/portal/da/publications/prenatal-diagnosis-of-craniosynostosis(fa2fdab0-044c-11df-b95d-000ea68e967b).html
https://pure.au.dk/portal/da/publications/prenatal-diagnosis-of-craniosynostosis(fa2fdab0-044c-11df-b95d-000ea68e967b).html