| Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor IS Farooqi, T Wangensteen, S Collins, W Kimber, G Matarese, JM Keogh, ... New England Journal of Medicine 356 (3), 237-247, 2007 | 913 | 2007 |
| Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse MT Dattani, JP Martinez-Barbera, PQ Thomas, JM Brickman, R Gupta, ... Nature genetics 19 (2), 125-133, 1998 | 900 | 1998 |
| European consensus statement on congenital hypogonadotropic hypogonadism—pathogenesis, diagnosis and treatment U Boehm, PM Bouloux, MT Dattani, N De Roux, C Dodé, L Dunkel, ... Nature Reviews Endocrinology 11 (9), 547-564, 2015 | 872 | 2015 |
| 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 | 466 | 2009 |
| A mutation in the thyroid hormone receptor alpha gene E Bochukova, N Schoenmakers, M Agostini, E Schoenmakers, ... New England Journal of Medicine 366 (3), 243-249, 2012 | 426 | 2012 |
| SOX2-expressing progenitor cells generate all of the major cell types in the adult mouse pituitary gland T Fauquier, K Rizzoti, M Dattani, R Lovell-Badge, ICAF Robinson Proceedings of the National Academy of Sciences 105 (8), 2907-2912, 2008 | 425 | 2008 |
| 100,000 genomes pilot on rare-disease diagnosis in health care—preliminary report 100,000 Genomes Project Pilot Investigators New England Journal of Medicine 385 (20), 1868-1880, 2021 | 424 | 2021 |
| 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 | 417 | 2006 |
| Small-intestinal dysfunction accompanies the complex endocrinopathy of human proprotein convertase 1 deficiency RS Jackson, JWM Creemers, IS Farooqi, ML Raffin-Sanson, A Varro, ... The Journal of clinical investigation 112 (10), 1550-1560, 2003 | 411 | 2003 |
| Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia PQ Thomas, MT Dattani, JM Brickman, D McNay, G Warne, M Zacharin, ... Human molecular genetics 10 (1), 39-45, 2001 | 346 | 2001 |
| Mutations in the selenocysteine insertion sequence–binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans E Schoenmakers, M Agostini, C Mitchell, N Schoenmakers, L Papp, ... The Journal of clinical investigation 120 (12), 4220-4235, 2010 | 327 | 2010 |
| Increased Wingless (Wnt) signaling in pituitary progenitor/stem cells gives rise to pituitary tumors in mice and humans C Gaston-Massuet, CL Andoniadou, M Signore, SA Jayakody, N Charolidi, ... Proceedings of the National Academy of Sciences 108 (28), 11482-11487, 2011 | 312 | 2011 |
| A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism AJ de Smith, C Purmann, RG Walters, RJ Ellis, SE Holder, MM Van Haelst, ... Human molecular genetics 18 (17), 3257-3265, 2009 | 312 | 2009 |
| Sox2+ stem/progenitor cells in the adult mouse pituitary support organ homeostasis and have tumor-inducing potential CL Andoniadou, D Matsushima, SNM Gharavy, M Signore, AI Mackintosh, ... Cell stem cell 13 (4), 433-445, 2013 | 298 | 2013 |
| Septo-optic dysplasia EA Webb, MT Dattani European Journal of Human Genetics 18 (4), 393-397, 2010 | 281 | 2010 |
| 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 | 232 | 2007 |
| Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement Y Sun, B Bak, N Schoenmakers, ASP van Trotsenburg, W Oostdijk, ... Nature genetics 44 (12), 1375-1381, 2012 | 226 | 2012 |
| Genetic forms of hypopituitarism and their manifestation in the neonatal period KS Alatzoglou, MT Dattani Early human development 85 (11), 705-712, 2009 | 217 | 2009 |
| Mitochondrial disease and endocrine dysfunction J Chow, J Rahman, JC Achermann, MT Dattani, S Rahman Nature Reviews Endocrinology 13 (2), 92-104, 2017 | 205 | 2017 |
| 2018 European Thyroid Association (ETA) guidelines on the diagnosis and management of central hypothyroidism L Persani, G Brabant, M Dattani, M Bonomi, U Feldt-Rasmussen, E Fliers, ... European thyroid journal 7 (5), 225-237, 2018 | 203 | 2018 |
Daniel KelbermanUCL Great Ormond Street Institute of Child Health在 ucl.ac.uk 的电子邮件经过验证
