|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
EA Webb, MT Dattani
European Journal of Human Genetics 18 (4), 393-397, 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
|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
|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
|Genetic forms of hypopituitarism and their manifestation in the neonatal period|
KS Alatzoglou, MT Dattani
Early human development 85 (11), 705-712, 2009
|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
|Mitochondrial disease and endocrine dysfunction|
J Chow, J Rahman, JC Achermann, MT Dattani, S Rahman
Nature Reviews Endocrinology 13 (2), 92-104, 2017