Items where Subject is "Clinical and Molecular Genetics Unit"
- UCL Eprints (16692)
- UCL Departments and Research Centres (8563)
- UCL Biomedical Sciences (1510)
- Institute of Child Health (252)
- Genes, Development and Disease (33)
- Clinical and Molecular Genetics Unit (16)
- Genes, Development and Disease (33)
- Institute of Child Health (252)
- UCL Biomedical Sciences (1510)
- UCL Departments and Research Centres (8563)
Number of items at this level: 16.
2010
Fiocco, F.;
(2010)
Identification of novel interacting partners of the
pre-mRNA processing factor 31.
Doctoral thesis , UCL (University College London).
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Flanagan, S. E.;
Kapoor, R. R.;
Mali, G.;
Cody, D.;
Murphy, N.;
Schwahn, B.;
Siahanidou, T.;
... Ellard, S.; + view all
(2010)
Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations.
European Journal of Endocrinology
, 162
(5)
pp. 987-992.
10.1530/EJE-09-0861.
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Mills, P. B.;
Footitt, E. J.;
Mills, K. A.;
Tuschl, K.;
Aylett, S.;
Varadkar, S.;
Hemingway, C.;
... Clayton, P. T.; + view all
(2010)
Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency).
Brain
, 133
(7)
pp. 2148-2159.
10.1093/brain/awq143.
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Sahakitrungruang, T.;
Soccio, R. E.;
Lang-Muritano, M.;
Walker, J. M.;
Achermann, J. C.;
Miller, W. L.;
(2010)
Clinical, genetic, and functional characterization of four patients carrying partial loss-of-function mutations in the steroidogenic acute regulatory protein (StAR).
Journal of Clinical Endocrinology and Metabolism
, 95
(7)
pp. 3352-3359.
10.1210/jc.2010-0437.
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2009
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Bennett, K.;
(2009)
The use of proteomics and mass spectrometry to investigate the interactions between proteases and protease inhibitors in the skin barrier.
Doctoral thesis , UCL (University College London).
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Kapoor, R. R;
Flanagan, S. E;
Fulton, P.;
Chakrapani, A.;
Chadefaux, B.;
Ben-Omran, T.;
Banerjee, I.;
... Hussain, K.; + view all
(2009)
Hyperinsulinism-hyperammonaemia syndrome: novel mutations in the GLUD1 gene and genotype-phenotype correlations.
European Journal of Endocrinology
, 161
(5)
pp. 731-735.
10.1530/EJE-09-0615.
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Kelberman, D.;
Rizzoti, K.;
Lovell-Badge, R.;
Robinson, I. C. A. F.;
Dattani, M. T.;
(2009)
Genetic regulation of pituitary gland development in human and mouse.
Endocrine Reviews
, 30
(7)
pp. 790-829.
10.1210/er.2009-0008.
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Köhler, B.;
Lin, L.;
Mazen, I.;
Cetindag, C.;
Biebermann, H.;
Akkurt, I.;
Rossi, R.;
... Achermann, J.C.; + view all
(2009)
The spectrum of phenotypes associated with mutations in steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) includes severe penoscrotal hypospadias in 46,XY males without adrenal insufficiency.
European Journal of Endocrinology
, 161
(2)
pp. 237-242.
10.1530/EJE-09-0067.
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Metherell, L. A.;
Naville, D.;
Halaby, G.;
Begeot, M.;
Huebner, A.;
Nurnberg, G.;
Nurnberg, P.;
... Clark, A. J. L.; + view all
(2009)
Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency.
Journal of Clinical Endocrinology and Metabolism
, 94
(10)
pp. 3865-3871.
10.1210/jc.2009-0467.
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2006
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Chitty, LS;
Kagan, KO;
Molina, FS;
Waters, JJ;
Nicolaides, KH;
(2006)
Fetal nuchal translucency scan and early prenatal diagnosis of chromosomal abnormalities by rapid aneuploidy screening: observational study.
BMJ-BRITISH MEDICAL JOURNAL
, 332
(7539)
pp. 452-454.
10.1136/bmj.38730.655197.AE.
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Kelberman, D.;
Rizzoti, K.;
Avilion, A.;
Bitner-Glindzicz, M.;
Cianfarani, S.;
Collins, J.;
Chong, W.K.;
... Dattani, M.T.; + view all
(2006)
Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans.
Journal of Clinical Investigation
, 116
(9)
pp. 2422-2455.
10.1172/JCI28658.
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2005
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Duncan, AJ;
Heales, SJR;
Mills, K;
Eaton, S;
Land, JM;
Hargreaves, IP;
(2005)
Determination of coenzyme Q(10) status in blood mononuclear cells, skeletal muscle, and plasma by HPLC with Di-propoxy-coenzyme Q(10) as an internal standard.
CLIN CHEM
, 51
(12)
2380 - 2382.
10.1373/clinchem.2005.054643.
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2004
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Cole, TJ;
Hindmarsh, PC;
Dunger, DB;
(2004)
Growth hormone (GH) provocation tests and the response to GH treatment in GH deficiency.
ARCH DIS CHILD
, 89
(11)
1024 - 1027.
10.1136/adc.2003.043406.
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2003
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Jackson, RS;
Creemers, JWM;
Farooqi, IS;
Raffin-Sanson, ML;
Varro, A;
Dockray, GJ;
Holst, JJ;
... O'Rahilly, S; + view all
(2003)
Small-intestinal dysfunction accompanies the complex endocrinopathy of human proprotein convertase 1 deficiency.
Journal of Clinical Investigation
, 112
(10)
pp. 1550-1560.
10.1172/JCI200318784.
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Lemonde, HA;
Custard, EJ;
Bouquet, J;
Duran, M;
Overmars, H;
Scambler, PJ;
Clayton, PT;
(2003)
Mutations in SRD5B1 (AKR1D1), the gene encoding Delta(4)-3-oxosteroid 5 beta-reductase, in hepatitis and liver failure in infancy.
GUT
, 52
(10)
1494 - 1499.
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1996
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Preece, M.A.;
Freeman, J.V.;
Cole, T.J.;
(1996)
Sex differences in weight in infancy. Published centile charts for weights have been updated.
BMJ
, 313
(7070)
p. 1486.
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