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Daniel Kelberman
Daniel Kelberman
UCL Great Ormond Street Institute of Child Health
在 ucl.ac.uk 的电子邮件经过验证 - 首页
标题
引用次数
引用次数
年份
Genetic regulation of pituitary gland development in human and mouse
D Kelberman, K Rizzoti, R Lovell-Badge, ICAF Robinson, MT Dattani
Endocrine reviews 30 (7), 790-829, 2009
4662009
Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans
D Kelberman, K Rizzoti, A Avilion, M Bitner-Glindzicz, S Cianfarani, ...
The Journal of clinical investigation 116 (9), 2442-2455, 2006
4172006
Heterozygous Missense Mutations in Steroidogenic Factor 1 (SF1/Ad4BP, NR5A1) Are Associated with 46,XY Disorders of Sex Development with Normal Adrenal …
L Lin, P Philibert, B Ferraz-de-Souza, D Kelberman, T Homfray, ...
The Journal of Clinical Endocrinology & Metabolism 92 (3), 991-999, 2007
2322007
SOX2 Plays a Critical Role in the Pituitary, Forebrain, and Eye during Human Embryonic Development
D Kelberman, SCP De Castro, S Huang, JA Crolla, R Palmer, JW Gregory, ...
The Journal of Clinical Endocrinology & Metabolism 93 (5), 1865-1873, 2008
2032008
HESX1 Mutations Are an Uncommon Cause of Septooptic Dysplasia and Hypopituitarism
DEG McNay, JP Turton, D Kelberman, KS Woods, R Brauner, ...
The Journal of Clinical Endocrinology & Metabolism 92 (2), 691-697, 2007
1782007
Hemifacial microsomia: progress in understanding the genetic basis of a complex malformation syndrome
D Kelberman, J Tyson, D Chandler, A McInerney, J Slee, D Albert, ...
Human genetics 109, 638-645, 2001
1782001
Expanding the Spectrum of Mutations in GH1 and GHRHR: Genetic Screening in a Large Cohort of Patients with Congenital Isolated Growth Hormone Deficiency
KS Alatzoglou, JP Turton, D Kelberman, PE Clayton, A Mehta, ...
The Journal of Clinical Endocrinology & Metabolism 94 (9), 3191-3199, 2009
1312009
Septo-optic dysplasia–novel insights into the aetiology
D Kelberman, MT Dattani
Hormone research 69 (5), 257-265, 2008
1292008
Hypothalamic and pituitary development: novel insights into the aetiology
D Kelberman, MT Dattani
European journal of endocrinology 157 (Supplement_1), S3-S14, 2007
1192007
Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing loss
A Rajab, D Kelberman, SCP de Castro, H Biebermann, H Shaikh, ...
Human Molecular Genetics 17 (14), 2150-2159, 2008
1132008
Genetics of septo-optic dysplasia
D Kelberman, MT Dattani
Pituitary 10, 393-407, 2007
1052007
Lack of the murine homeobox gene Hesx1 leads to a posterior transformation of the anterior forebrain
CL Andoniadou, M Signore, E Sajedi, C Gaston-Massuet, D Kelberman, ...
Oxford University Press for The Company of Biologists Limited 134 (8), 1499-1508, 2007
972007
ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies
EA Webb, A AlMutair, D Kelberman, C Bacchelli, E Chanudet, F Lescai, ...
Brain 136 (10), 3096-3105, 2013
862013
Hypopituitarism oddities: congenital causes
D Kelberman, MT Dattani
Hormone research 68 (Suppl. 5), 138-144, 2007
812007
The role of transcription factors implicated in anterior pituitary development in the aetiology of congenital hypopituitarism
D Kelberman, MT Dattani
Annals of medicine 38 (8), 560-577, 2006
812006
CD19+CD24hiCD38hi B Cells Are Expanded in Juvenile Dermatomyositis and Exhibit a Pro-Inflammatory Phenotype After Activation Through Toll-Like Receptor …
CJM Piper, MGL Wilkinson, CT Deakin, GW Otto, S Dowle, CL Duurland, ...
Frontiers in immunology 9, 1372, 2018
802018
ATOH7 mutations cause autosomal recessive persistent hyperplasia of the primary vitreous
L Prasov, T Masud, S Khaliq, SQ Mehdi, A Abid, ER Oliver, ED Silva, ...
Human molecular genetics 21 (16), 3681-3694, 2012
802012
X-linked megalocornea caused by mutations in CHRDL1 identifies an essential role for ventroptin in anterior segment development
TR Webb, M Matarin, JC Gardner, D Kelberman, H Hassan, W Ang, ...
The American Journal of Human Genetics 90 (2), 247-259, 2012
752012
Novel IL-6 haplotypes and disease association
MS Fife, EM Ogilvie, D Kelberman, J Samuel, A Gutierrez, SE Humphries, ...
Genes & Immunity 6 (4), 367-370, 2005
682005
Effect of Interleukin-6 promoter polymorphisms in survivors of myocardial infarction and matched controls in the North and South of Europe
D Kelberman, E Hawe, LA Luong, V Mohamed-Ali, P Lundman, P Tornvall, ...
Thrombosis and haemostasis 92 (11), 1122-1128, 2004
682004
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