Zobrazeno 1 - 10
of 32
pro vyhledávání: '"R. W. Yates"'
Autor:
Valentina Cipriani, Laura Lorés-Motta, Fan He, Dina Fathalla, Viranga Tilakaratna, Selina McHarg, Nadhim Bayatti, İlhan E. Acar, Carel B. Hoyng, Sascha Fauser, Anthony T. Moore, John R. W. Yates, Eiko K. de Jong, B. Paul Morgan, Anneke I. den Hollander, Paul N. Bishop, Simon J. Clark
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-15 (2020)
A locus on chromosome 1 encompassing the CFHR genes is highly associated with AMD risk. Here, Cipriani and colleagues investigate the role of CFHR4, encoding FHR-4, and demonstrate a relationship between AMD risk, circulating FHR-4 levels and genetic
Externí odkaz:
https://doaj.org/article/0b0f1261bc8d49669412ef574f2fe536
Autor:
Esther Meyer, Derek Lim, Shanaz Pasha, Louise J Tee, Fatimah Rahman, John R W Yates, C Geoffrey Woods, Wolf Reik, Eamonn R Maher
Publikováno v:
PLoS Genetics, Vol 5, Iss 3, p e1000423 (2009)
Beckwith-Wiedemann syndrome (BWS) is a fetal overgrowth and human imprinting disorder resulting from the deregulation of a number of genes, including IGF2 and CDKN1C, in the imprinted gene cluster on chromosome 11p15.5. Most cases are sporadic and re
Externí odkaz:
https://doaj.org/article/211426ac7e504ffb99f0ad952544015b
Autor:
Ayla, Humphrey, Cathy, MacLean, George B, Ploubidis, Yael, Granader, Michelle, Clifford, Maisy, Haslop, Brian G R, Neville, John R W, Yates, Patrick F, Bolton, C H, Shepherd
Publikováno v:
Epilepsia. 55:108-116
Summary Objective Infantile spasms (IS) have long been suspected to be a risk factor for impairment in intellectual development, but there are no controlled, prospective longitudinal data in well-characterized conditions to confirm this suspicion. We
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f6b5e33a030109e1630127aef8457d8
https://doi.org/10.1111/epi.12484
https://doi.org/10.1111/epi.12484
Publikováno v:
Clinical Genetics. 31:279-287
Vitamin levels were measured in twenty women under 35 years of age with a history of two or more neural tube defect pregnancies. Each index case was compared with a female control matched for age, obstetric history and social class. The mean concentr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e01a4a0c5ccddefbdf014f9a7477417
https://doi.org/10.1111/j.1399-0004.1987.tb02809.x
https://doi.org/10.1111/j.1399-0004.1987.tb02809.x
Autor:
John R W, Yates
Publikováno v:
European Journal of Human Genetics. 14:1065-1073
Tuberous sclerosis is a serious inherited disease which poses major challenges for affected families and those caring for them. Identification of the genes causing the condition and study of their protein products has shed light on the pathogenesis o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e00e0a4e03c07dd1d2545dba5a3074ae
https://doi.org/10.1038/sj.ejhg.5201625
https://doi.org/10.1038/sj.ejhg.5201625
Autor:
Allan J. Richards, David M. Baguley, John R. W. Yates, Carol Lane, Mary Nicol, Peter S. Harper, John D. Scott, Martin P. Snead
Publikováno v:
The American Journal of Human Genetics. 67:1083-1094
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ef048ef52f98f3122774c410ffcb1af9
https://doi.org/10.1086/321189
https://doi.org/10.1086/321189
Autor:
M. N. Maisey, R. W. Yates, B. F. Cronin, Michael Tynan, Ramsey D. Badawi, David Anderson, Paul Marsden, Edward Baker
Publikováno v:
Pediatric Cardiology. 21:111-118
This study was performed to examine the use of positron emission tomography (PET) as a method of evaluating myocardial perfusion after the arterial switch operation for correction of transposition of the great arteries. Eleven asymptomatic patients (
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::309fee56dde79817d3dd18487d9c7176
https://doi.org/10.1007/s002469910015
https://doi.org/10.1007/s002469910015
Publikováno v:
Anaesthesia. 54:1069-1072
One thousand, eight hundred and fifty-seven patients underwent magnetic resonance imaging following the establishment of a structured sedation programme. Forty-eight of these patients came from the intensive care unit with a secure airway and were th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::67eae4f7003f8f9662f577dd5e9b6fd3
https://doi.org/10.1046/j.1365-2044.1999.01106.x
https://doi.org/10.1046/j.1365-2044.1999.01106.x
Publikováno v:
Journal of Medical Genetics. 35:646-649
Deficiency of iduronate-2-sulphatase (IDS) results in the X linked recessive lysosomal storage disorder Hunter syndrome. Determination of carrier status in families affected by this disorder has been performed using a variety of enzymatic tests. None
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8733ff2011338f1f4691397c55ab0017
https://doi.org/10.1136/jmg.35.8.646
https://doi.org/10.1136/jmg.35.8.646
Publikováno v:
Pediatric Cardiology. 18:78-82
Persistent fetal tachycardias are known to have an adverse effect on fetal outcome. The outcomes of intermittent fetal tachyarrhythmias over a 12-year period at a tertiary fetal cardiology center were studied. Main outcome criteria included control o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5faf39258d547c6993eef7a690fb79a
https://doi.org/10.1007/s002469900118
https://doi.org/10.1007/s002469900118