R
Richard Stanhope
Researcher at Great Ormond Street Hospital
Publications - 125
Citations - 6862
Richard Stanhope is an academic researcher from Great Ormond Street Hospital. The author has contributed to research in topics: Precocious puberty & Growth hormone treatment. The author has an hindex of 40, co-authored 125 publications receiving 6581 citations. Previous affiliations of Richard Stanhope include University College Hospital & University College London.
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Journal ArticleDOI
A frameshift mutation in MC4R associated with dominantly inherited human obesity
TL;DR: A cohort of severely obese children in whom no evidence for a recognized clinical syndrome or a structural hypothalamic cause for their obesity has been found is identified, and one subject who was heterozygous for a 4-bp deletion at codon 211 is likely to result in a non-functional receptor.
Journal ArticleDOI
Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor.
I. Sadaf Farooqi,Teresia Wangensteen,Stephan C. Collins,Wendy Kimber,Giuseppe Matarese,Julia M. Keogh,Emma Lank,Bill Bottomley,Judith López-Fernández,Iván Ferraz-Amaro,Mehul T. Dattani,Oya Ercan,Anne Grethe Myhre,Lars Retterstøl,Richard Stanhope,J. A. Edge,Sheila A. McKenzie,Nader Lessan,Maryam Ghodsi,Veronica De Rosa,Francesco Perna,Silvia Fontana,Inês Barroso,Dag E. Undlien,Stephen O'Rahilly +24 more
TL;DR: The prevalence of pathogenic LEPR mutations in a cohort of subjects with severe, early-onset obesity was 3%.
Journal ArticleDOI
International Society for Pediatric and Adolescent Diabetes
Caroline Brain,M. Hubbard,Michael A. Preece,M.O. Savage,Albert Aynsley-Green,Olivier Bouchot,Jean Yves Soret,Didier Jacqmin,Najiba Lahlou,Marc Roger,Joëlle Blumberg,Vallo Tillmann,Stephen M Shalet,David Price,Jeremy K.H. Wales,Louise Pennells,Joanne Soden,Matthew S. Gill,A. J. Whatmore,Peter E. Clayton,Giorgio Radetti,Lucia Ghizzoni,C. Paganini,Lorenzo Iughetti,G. Caselli,S. Bernasconi,Meir Lampit,Tova Nave,Zeev Hochberg,Rafael Artuch,Carlos Pavía,Ana Playán,Maria Antonia Vilaseca,Jaume Colomer,Carme Valls,Miquel Rissech,María Antonia González,Adolf Pou,Paz Briones,Julio Montoya,Mercè Pineda,P. Brogan,V.V. Khadilkar,Richard Stanhope,Fredrik Cederblad,Uwe Ewald,Jan Gustafsson +46 more
TL;DR: International Society for Pediatric and Adolescent Diabetes 24th Annual Meeting, Zurich, Switzerland, September 14–17, 1998 Horm Res 1998;50:107–140 Abstracts Dr. Michael S. Harbuz Division of Medicine, Bristol Bristol Royal Infirmary, Marlborough Street Bristol BS2 8HW.
Journal ArticleDOI
Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia
Paul Q. Thomas,Mehul T. Dattani,Mehul T. Dattani,Joshua M. Brickman,David E. G. McNay,Garry L. Warne,Margaret Zacharin,Fergus J. Cameron,Jane Hurst,Katie Woods,David B. Dunger,Richard Stanhope,Susan M. Forrest,Iain C.A.F. Robinson,Rosa S.P. Beddington +14 more
TL;DR: In this article, the HESX1/Hesx1 homozygous mutations were detected in individuals with relatively mild pituitary hypoplasia or SOD, which display incomplete penetrance and variable phenotype amongst heterozygous family members.
Journal ArticleDOI
Two novel missense mutations in g protein-coupled receptor 54 in a patient with hypogonadotropic hypogonadism.
Robert K. Semple,John C. Achermann,J. Ellery,I. S. Farooqi,Fiona E. Karet,Richard Stanhope,Stephen O'Rahilly,Samuel Aparicio,Samuel Aparicio +8 more
TL;DR: Assessed in vitro using a previously described sensitive signaling assay in cells stably expressing GPR54, the C223R variant was found to exhibit profoundly impaired signaling, whereas the R297L variant showed a mild reduction in ligand-stimulated activity across the ligand dose range.