Zobrazeno 1 - 10
of 87
pro vyhledávání: '"David O Robinson"'
Autor:
William J Tapper, Nicola Foulds, Nicholas C P Cross, Paula Aranaz, Joannah Score, Claire Hidalgo-Curtis, David O Robinson, Jane Gibson, Sarah Ennis, I Karen Temple, Andrew Collins
Publikováno v:
PLoS ONE, Vol 9, Iss 1, p e86940 (2014)
Two megalencephaly (MEG) syndromes, megalencephaly-capillary malformation (MCAP) and megalencephaly-polymicrogyriapolydactyly-hydrocephalus (MPPH), have recently been defined on the basis of physical and neuroimaging features. Subsequently, exome seq
Externí odkaz:
https://doaj.org/article/690c5f2c6f6245e4893f2b76891821d6
This book sets out the economic challenges facing the island nations of the Caribbean and presents policy options to ameliorate external shocks and embark firmly on a sustained growth path. While the countries of the Eastern Caribbean Currency Union
Russia Rebounds analyzes Russia's dramatic economic recovery since the country's 1998 financial crisis, emphasizing macroeconomic issues and fiscal and banking sector reforms. The crisis was a massive shock to the system and a considerable surprise t
Autor:
Deborah J G Mackay, Paras Garg, Charles E. Schwartz, Stephen B. Montgomery, Giorgio Gimelli, Ricky S. Joshi, Claudia A. L. Ruivenkamp, Daniel Ho, Noah Zaitlen, Cédric Le Caignec, Thomas Eggermann, Urvashi Surti, Karin Buiting, Stylianos E. Antonarakis, Thomas H. Wassink, David O. Robinson, Thomas Liehr, Samuel G. Jacobson, Alistair T. Pagnamenta, Xin Li, Bernhard Steiner, Tuuli Lappalainen, Bradford Coffee, Andrew J. Sharp, David Francis, Peter Papenhausen, Han G. Brunner, Joep P.M. Geraedts, David A. Stevenson, Nidha Azam, Corey T. Watson, Sau Wai Cheung, Nicole de Leeuw
Publikováno v:
American Journal of Human Genetics, 99(3), 555-566
American Journal of Human Genetics, Vol. 99, No 3 (2016) pp. 555-566
American Journal of Human Genetics, 99, 3, pp. 555-66
American Journal of Human Genetics, 99, 555-66
American Journal of Human Genetics, Vol. 99, No 3 (2016) pp. 555-566
American Journal of Human Genetics, 99, 3, pp. 555-66
American Journal of Human Genetics, 99, 555-66
Contains fulltext : 167696.pdf (Publisher’s version ) (Open Access) Genomic imprinting is a mechanism in which gene expression varies depending on parental origin. Imprinting occurs through differential epigenetic marks on the two parental alleles,
Autor:
Vivienne Maloney, Shuwen Huang, Sarah Ennis, Francis H. Grand, David J. Bunyan, John A. Crolla, David O. Robinson, Tristan F. W. McMullan, Samantha R. de Silva, Anthony G. Tyers
Publikováno v:
Open Journal of Genetics. :415-425
Blepharoptosis (ptosis) is defined as the abnormal drooping of the upper eyelid and is a feature of many conditions. It can be in isolated or syndromic form, bilateral or unilateral and congenital or acquired. Previously we have carried out linkage a
Autor:
Julian P.H. Shield, Deborah J G Mackay, Sian Ellard, Emma L. Edghill, Karen Temple, Andrew T. Hattersley, Sarah E. Flanagan, David O. Robinson, Ann-Marie Patch, Anna L. Gloyn
Publikováno v:
Diabetes
OBJECTIVE: Transient neonatal diabetes mellitus (TNDM) is diagnosed in the first 6 months of life with remission in infancy or early childhood. For approximately 50% of patients their diabetes will relapse in later life. The majority of cases result
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d31cf47628811929fde5719bd4633e7
https://ora.ox.ac.uk/objects/uuid:ec578f77-d023-468c-949c-7130e4024827
https://ora.ox.ac.uk/objects/uuid:ec578f77-d023-468c-949c-7130e4024827
Autor:
Justyna Tull, Zandra C. Deans, Rachel Butler, Gemma Beighton, David O. Robinson, Stephen Abbs
Publikováno v:
Genetic Testing and Molecular Biomarkers. 15:777-783
Laboratories are increasingly required to perform molecular tests for the detection of mutations in the KRAS gene in metastatic colorectal cancers to allow better clinical management and more effective treatment for these patients. KRAS mutation stat
Autor:
Angela J. Cree, Helen Griffiths, Andrew J. Lotery, Jane Gibson, Jay E. Self, David J. Bunyan, Sarah Ennis, David O. Robinson, Alex MacLeod
Publikováno v:
Eye. 24:328-333
To identify the prevalence of myocilin gene mutations in a UK glaucoma cohort. Primary open-angle (POAG) and normal tension glaucoma patients were recruited from the Southampton University Hospital Trust Eye Clinic and satellite regional glaucoma cli
Autor:
Alison Salt, J. Richard O. Collin, Preeti Bakrania, Ruth Newbury-Ecob, Y. Abou-Rayyah, Nicola K. Ragge, Robert Osborne, John A. Crolla, David O. Robinson, Carmen Ayuso, David J. Bunyan, Alexander W. Wyatt
Publikováno v:
Human Mutation. 29:E278-E283
Severe ocular malformations, including anophthalmia-microphthalmia (AM), are responsible for around 25% of severe visual impairment in childhood. Recurrent interstitial deletions of 14q22–23 are associated with AM and a wide range of extra-ocular p
Autor:
Dian Donnai, N. Simon Thomas, Patricia K. Donahoe, Sibel Kantarci, F. Lucy Raymond, Nicola K. Ragge, Meaghan K. Russell, Barbara R. Pober, Christopher A. Walsh, Kristin M. Noonan, David O. Robinson
Publikováno v:
American Journal of Medical Genetics Part A. :1842-1847
Donnai-Barrow syndrome [Faciooculoacousticorenal (FOAR) syndrome; DBS/FOAR] is a rare autosomal recessive disorder resulting from mutations in the LRP2 gene located on chromosome 2q31.1. We report a unique DBS/FOAR patient homozygous for a 4-bp LRP2