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Mehul Dattani

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Louise C Gregory; Dragana J Josifova; Tessa Kasia; Mark J McCabe; Joanne Baker; Frederic Bilan; Maria Caimari; Kling Chong; Evelien F Gevers; Mehul T Dattani
Structural Pituitary Abnormalities Associated With CHARGE Syndrome.
Mark J McCabe; Mamoru Nagano; Marija Pfeifer; Nelly Pitteloud; Philippe Rondard; Oualid Sbai; Yasufumi Shigeyoshi; Vaitsa Tziaferi; Carles Gaston-Massuet; Louise C Gregory; Tony Hulse; Juan Pedro Martinez-Barbera; Koh-hei Masumoto; Kyriaki S Alatzoglou; Charles R Buchanan; Mehul T Dattani
Variations in PROKR2, but not PROK2, are associated with hypopituitarism and septo-optic dysplasia.
Catherine J Peters; David R Matthews; Evangelia Charmandari; Mehul T Dattani; Nathan Hill; Peter C Hindmarsh
Deconvolution analysis of 24-h serum cortisol profiles informs the amount and distribution of hydrocortisone replacement therapy.

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2013: Louise C Gregory; Dragana J Josifova; Tessa Kasia; Mark J McCabe; Joanne Baker; Frederic Bilan; Maria Caimari; Kling Chong; Evelien F Gevers; Mehul T Dattani
Structural Pituitary Abnormalities Associated With CHARGE Syndrome.
The Journal of clinical endocrinology and metabolism 2013;98(4):E737-43.
2013: Mark J McCabe; Mamoru Nagano; Marija Pfeifer; Nelly Pitteloud; Philippe Rondard; Oualid Sbai; Yasufumi Shigeyoshi; Vaitsa Tziaferi; Carles Gaston-Massuet; Louise C Gregory; Tony Hulse; Juan Pedro Martinez-Barbera; Koh-hei Masumoto; Kyriaki S Alatzoglou; Charles R Buchanan; Mehul T Dattani
Variations in PROKR2, but not PROK2, are associated with hypopituitarism and septo-optic dysplasia.
The Journal of clinical endocrinology and metabolism 2013;98(3):E547-57.
2013: Catherine J Peters; David R Matthews; Evangelia Charmandari; Mehul T Dattani; Nathan Hill; Peter C Hindmarsh
Deconvolution analysis of 24-h serum cortisol profiles informs the amount and distribution of hydrocortisone replacement therapy.
Clinical endocrinology 2013;78(3):347-51.
2013: Gayatri Sharma; David P Muller; Stephen M O'Riordan; Sinead Bryan; Mehul T Dattani; Peter C Hindmarsh; Kevin Mills
Urinary conjugated α-tocopheronolactone-a biomarker of oxidative stress in children with type 1 diabetes.
Free radical biology & medicine 2013;55():54-62.
2013: Emma A Webb; Michelle A O'Reilly; Alison Salt; Kiran K Seunarine; Chris A Clark; Jonathan D Clayden; Naomi Dale; Mehul T Dattani
Reduced ventral cingulum integrity and increased behavioral problems in children with isolated optic nerve hypoplasia and mild to moderate or no visual impairment.
PloS one 2013;8(3):e59048.
2012: Sujatha A Jayakody; Paul Le Tissier; Larysa H Pevny; Massimo Signore; Cynthia L Andoniadou; Pierre M Bouloux; Anna Cariboni; Mehul T Dattani; Carles Gaston-Massuet; Juan P Martinez-Barbera
SOX2 regulates the hypothalamic-pituitary axis at multiple levels.
The Journal of clinical investigation 2012;122(10):3635-46.
2012: Lev Prasov; Eduardo D Silva; Jane C Sowden; Aiysha Abid; Mark Borchert; Michael C Brodsky; Mehul T Dattani; Daniel Kelberman; Shagufta Khaliq; Amy Lewanda; Tehmina Masud; S Qasim Mehdi; Edward R Oliver; Thomas M Glaser
ATOH7 mutations cause autosomal recessive persistent hyperplasia of the primary vitreous.
Human molecular genetics 2012;21(16):3681-94.
2012: Cynthia L Andoniadou; Maria A Blasco; Mehul T Dattani; Carles Gaston-Massuet; Thomas S Jacques; Paul Le Tissier; Larysa H Pevny; Rukmini Reddy; Ralph P Schneider; Juan Pedro Martinez-Barbera
Identification of novel pathways involved in the pathogenesis of human adamantinomatous craniopharyngioma.
Acta neuropathologica 2012;124(2):259-71.
2012: Catherine J Peters; Mehul T Dattani
How to use insulin-like growth factor 1 (IGF1).
Archives of disease in childhood. Education and practice edition 2012;97(3):114-8.
2012: Maria Consolata Miletta; Gianni Bona; Mauro Bozzola; Mehul T Dattani; Christa E Flück; Mara Giordano; Peter C Hindmarsh; Monika Oser-Meier; Sara Pagani; Vibor Petkovic; Ursina A Scheidegger; Primus E Mullis
Association of the (CA)n repeat polymorphism of insulin-like growth factor-I and -202 A/C IGF-binding protein-3 promoter polymorphism with adult height in patients with severe growth hormone deficiency.
Clinical endocrinology 2012;76(5):683-90.
2012: Ranna El-Khairi; Dianne Gerrelli; Lin Lin; Rahul Parnaik; Gerard S Conway; Mehul T Dattani; Andrew J Duncan; John C Achermann
Analysis of LIN28A in early human ovary development and as a candidate gene for primary ovarian insufficiency.
Molecular and cellular endocrinology 2012;351(2):264-8.
2012: Taneli Raivio; Christopher Romero; Yisrael Sidis; Gerasimos P Sykiotis; Johanna Tommiska; Vaitsa Tziaferi; Chengkang Zhang; Qun-Yong Zhou; Magdalena Avbelj; Huaibin Chen; Mehul T Dattani; Daniel Diaczok; Andrew A Dwyer; Mariet W Elting; Bihua Feng; Louise C Gregory; Cecilia Martin; Mark J McCabe; Moosa Mohammadi; Raja Padidela; Lacey Plummer; Richard Quinton; Sally Radovick; Nelly Pitteloud
Genetic overlap in Kallmann syndrome, combined pituitary hormone deficiency, and septo-optic dysplasia.
The Journal of clinical endocrinology and metabolism 2012;97(4):E694-9.
2012: J P Turton; Molly Strom; Mehul T Dattani; S Langham; Paul Le Tissier
Two novel mutations in the POU1F1 gene generate null alleles through different mechanisms leading to combined pituitary hormone deficiency.
Clinical endocrinology 2012;76(3):387-93.
2012: Rodrigo E Bancalari; Louise C Gregory; Mark J McCabe; Mehul T Dattani
Pituitary gland development: an update.
Endocrine development 2012;23():1-15.
2012: Emma A Webb; Michelle A O'Reilly; Alison Salt; Kiran K Seunarine; Wui K Chong; Chris A Clark; Jonathan D Clayden; Naomi Dale; Mehul T Dattani
Effect of growth hormone deficiency on brain structure, motor function and cognition.
Brain : a journal of neurology 2012;135(Pt 1):216-27.
2011: Kyriaki S Alatzoglou; Cynthia L Andoniadou; Maria Cristina Arriazu; Charles R Buchanan; John Crolla; Daniel Kelberman; Juan P Martinez-Barbera; Daniel Moncet; Martin Roubicek; Mehul T Dattani
SOX2 haploinsufficiency is associated with slow progressing hypothalamo-pituitary tumours.
Human mutation 2011;32(12):1376-80.
2011: Mark J McCabe; Nelly Pitteloud; Eduardo Puelles; Jamal Raza; Massimo Signore; Pei-San Tsai; Vaitsa Tziaferi; Joanna Walker; I Sadaf Farooqi; Carles Gaston-Massuet; Dianne Gerrelli; Louise C Gregory; Scott I Kavanaugh; Juan Pedro Martinez-Barbera; Kyriaki S Alatzoglou; Mehul T Dattani
Novel FGF8 mutations associated with recessive holoprosencephaly, craniofacial defects, and hypothalamo-pituitary dysfunction.
The Journal of clinical endocrinology and metabolism 2011;96(10):E1709-18.
2011: Marcela M França; Alexander A L Jorge; Berenice B Mendonca; Kyriaki S Alatzoglou; Laura Audi; Antonio Carrascosa; Luciani R Carvalho; Mehul T Dattani; Ivo J P Arnhold
Absence of GH-releasing hormone (GHRH) mutations in selected patients with isolated GH deficiency.
The Journal of clinical endocrinology and metabolism 2011;96(9):E1457-60.
2011: Carles Gaston-Massuet; Thomas S Jacques; Sujatha A Jayakody; Roger Kyeyune; Paul Le Tissier; Cynthia Lilian Andoniadou; Nicoletta Charolidi; Mehul T Dattani; Massimo Signore; Makoto Mark Taketo; Bertrand Vernay; Juan Pedro Martinez-Barbera
Increased Wingless (Wnt) signaling in pituitary progenitor/stem cells gives rise to pituitary tumors in mice and humans.
Proceedings of the National Academy of Sciences of the United States of America 2011;108(28):11482-7.
2011: Kyriaki S Alatzoglou; Daniel Kelberman; Christopher T Cowell; Rodger Palmer; Ivo J P Arnhold; Maria E Melo; Dirk Schnabel; Annette Grueters; Mehul T Dattani
Increased transactivation associated with SOX3 polyalanine tract deletion in a patient with hypopituitarism.
The Journal of clinical endocrinology and metabolism 2011;96(4):E685-90.
2011: Bruno Ferraz-de-Souza; Rebecca E Hudson-Davies; Lin Lin; Rahul Parnaik; Mike Hubank; Mehul T Dattani; John C Achermann
Sterol O-acyltransferase 1 (SOAT1, ACAT) is a novel target of steroidogenic factor-1 (SF-1, NR5A1, Ad4BP) in the human adrenal.
The Journal of clinical endocrinology and metabolism 2011;96(4):E663-8.
2011: Bruno Ferraz-de-Souza; Lin Lin; Shah Sonia; Nipurna Jina; Mike Hubank; Mehul T Dattani; John C Achermann
ChIP-on-chip analysis reveals angiopoietin 2 (Ang2, ANGPT2) as a novel target of steroidogenic factor-1 (SF-1, NR5A1) in the human adrenal gland.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2011;25(4):1166-75.
2011: Mark James McCabe; Kyriaki S Alatzoglou; Mehul T Dattani
Septo-optic dysplasia and other midline defects: the role of transcription factors: HESX1 and beyond.
Best practice & research. Clinical endocrinology & metabolism 2011;25(1):115-24.
2011: Mehul T Dattani; Juan Pedro Martinez-Barbera
The future of genomic endocrinology.
Frontiers in endocrinology 2011;2():11.
2010: Kyriaki S Alatzoglou; Mehul T Dattani
Genetic causes and treatment of isolated growth hormone deficiency-an update.
Nature reviews. Endocrinology 2010;6(10):562-76.
2010: E A Webb; M A O'Reilly; J Orgill; N Dale; A Salt; P Gringras; Mehul T Dattani
Rest-activity disturbances in children with septo-optic dysplasia characterized by actigraphy and 24-hour plasma melatonin profiles.
The Journal of clinical endocrinology and metabolism 2010;95(10):E198-203.
2010: Emma A Webb; Mehul T Dattani
Septo-optic dysplasia.
European journal of human genetics : EJHG 2010;18(4):393-7.
2010: Vibor Petkovic; Michela Godi; Amit V Pandey; Didier Lochmatter; Charles R Buchanan; Mehul T Dattani; Andrée Eblé; Christa E Flück; Primus E Mullis
Growth hormone (GH) deficiency type II: a novel GH-1 gene mutation (GH-R178H) affecting secretion and action.
The Journal of clinical endocrinology and metabolism 2010;95(2):731-9.
2010: Detlef Bockenhauer; William G Van't Hoff; Mehul T Dattani; A Lehnhardt; M Subtirelu; Friedhelm Hildebrandt; D G Bichet
Secondary nephrogenic diabetes insipidus as a complication of inherited renal diseases.
Nephron. Physiology 2010;116(4):p23-9.
2010: E A Webb; Mehul T Dattani
Diagnosis of growth hormone deficiency.
Endocrine development 2010;18():55-66.
2010: Catherine Peters; Shirley Langham; Primus E Mullis; Mehul T Dattani
Use of combined liothyronine and thyroxine therapy for consumptive hypothyroidism associated with hepatic haemangiomas in infancy.
Hormone research in pædiatrics 2010;74(2):149-52.
2010: Stephen M P O'Riordan; Mehul T Dattani; Peter C Hindmarsh
Cystic fibrosis-related diabetes in childhood.
Hormone research in pædiatrics 2010;73(1):15-24.
2009: Carles Gaston-Massuet; Daniel Kelberman; Mehul T Dattani; Juan Pedro Martinez-Barbera
Absence of SIX3 mutations in patients with congenital hypopituitarism.
American journal of medical genetics. Part A 2009;149A(12):2874-6.
2009: Daniel Kelberman; Karine Rizzoti; Robin Lovell-Badge; Iain C A F Robinson; Mehul T Dattani
Genetic regulation of pituitary gland development in human and mouse.
Endocrine reviews 2009;30(7):790-829.
2009: Kyriaki S Alatzoglou; Mehul T Dattani
Genetic forms of hypopituitarism and their manifestation in the neonatal period.
Early human development 2009;85(11):705-12.
2009: Kyriaki S Alatzoglou; Peter C Hindmarsh; Caroline Brain; John Torpiano; Mehul T Dattani
Acanthosis nigricans and insulin sensitivity in patients with achondroplasia and hypochodroplasia due to FGFR3 mutations.
The Journal of clinical endocrinology and metabolism 2009;94(10):3959-63.
2009: Kyriaki S Alatzoglou; James P G Turton; Daniel Kelberman; Peter E Clayton; Ameeta Mehta; Charles Buchanan; Simon Aylwin; Elisabeth C Crowne; Henrik T Christesen; Niels T Hertel; Peter J Trainer; Martin O Savage; Jamal Raza; Kausik Banerjee; Sunil K Sinha; Svetlana Ten; Talat Mushtaq; Raja Brauner; Timothy D Cheetham; Peter C Hindmarsh; Primus E Mullis; Mehul T Dattani
Expanding the spectrum of mutations in GH1 and GHRHR: genetic screening in a large cohort of patients with congenital isolated growth hormone deficiency.
The Journal of clinical endocrinology and metabolism 2009;94(9):3191-9.
2009: Ameeta Mehta; Peter C Hindmarsh; Hiten Mehta; James P G Turton; Isabelle Russell-Eggitt; David Taylor; W K Chong; Mehul T Dattani
Congenital hypopituitarism: clinical, molecular and neuroradiological correlates.
Clinical endocrinology 2009;71(3):376-82.
2009: Raja Padidela; Daniel Kelberman; Martin Press; M Al-Khawari; Peter C Hindmarsh; Mehul T Dattani
Mutation in the TBCE gene is associated with hypoparathyroidism-retardation-dysmorphism syndrome featuring pituitary hormone deficiencies and hypoplasia of the anterior pituitary and the corpus callosum.
The Journal of clinical endocrinology and metabolism 2009;94(8):2686-91.
2009: Mehul T Dattani
The candidate gene approach to the diagnosis of monogenic disorders.
Hormone research 2009;71 Suppl 2():14-21.
2009: Kyriaki S Alatzoglou; Daniel Kelberman; Mehul T Dattani
The role of SOX proteins in normal pituitary development.
The Journal of endocrinology 2009;200(3):245-58.
2009: Terry Y Segal; Ameeta Mehta; Antoinette Anazodo; Peter C Hindmarsh; Mehul T Dattani
Role of gonadotropin-releasing hormone and human chorionic gonadotropin stimulation tests in differentiating patients with hypogonadotropic hypogonadism from those with constitutional delay of growth and puberty.
The Journal of clinical endocrinology and metabolism 2009;94(3):780-5.
2009: Daniel Kelberman; Mehul T Dattani
Role of transcription factors in midline central nervous system and pituitary defects.
Endocrine development 2009;14():67-82.
2009: Daniel Kelberman; James P G Turton; Kathryn S Woods; Ameeta Mehta; M Al-Khawari; J Greening; P G F Swift; Timo Otonkoski; S J Rhodes; Mehul T Dattani
Molecular analysis of novel PROP1 mutations associated with combined pituitary hormone deficiency (CPHD).
Clinical endocrinology 2009;70(1):96-103.
2008: Asma Deeb; Jarmo Jääskeläinen; Mehul T Dattani; Hayley Whitaker; C Costigan; Ieuan A Hughes
A novel mutation in the human androgen receptor suggests a regulatory role for the hinge region in amino-terminal and carboxy-terminal interactions.
The Journal of clinical endocrinology and metabolism 2008;93(10):3691-6.
2008: Anna Rajab; Daniel Kelberman; Sandra C P de Castro; Heike Biebermann; Hala Shaikh; Kerra Pearce; Catherine M Hall; Guftar Shaikh; Dianne Gerrelli; Annette Grueters; Heiko Krude; Mehul T Dattani
Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing loss.
Human molecular genetics 2008;17(14):2150-9.
2008: Rongrong Chen; Khalid Hussain; Maryam Al-Ali; Mehul T Dattani; Peter Hindmarsh; Peter M Jones; Phil Marsh
Neonatal and late-onset diabetes mellitus caused by failure of pancreatic development: report of 4 more cases and a review of the literature.
Pediatrics 2008;121(6):e1541-7.
2008: Daniel Kelberman; Sandra C P de Castro; Shuwen Huang; John A Crolla; Rodger Palmer; John W Gregory; David Taylor; Luciano Cavallo; Maria F Faienza; Rita Fischetto; John C Achermann; Juan Pedro Martinez-Barbera; Karine Rizzoti; Robin Lovell-Badge; Iain C A F Robinson; Dianne Gerrelli; Mehul T Dattani
SOX2 plays a critical role in the pituitary, forebrain, and eye during human embryonic development.
The Journal of clinical endocrinology and metabolism 2008;93(5):1865-73.
2008: Barbara Räz; Marco Janner; Vibor Petkovic; Didier Lochmatter; Andrée Eblé; Mehul T Dattani; Peter C Hindmarsh; Christa E Flück; Primus E Mullis
Influence of growth hormone (GH) receptor deletion of exon 3 and full-length isoforms on GH response and final height in patients with severe GH deficiency.
The Journal of clinical endocrinology and metabolism 2008;93(3):974-80.
2008: Teddy Fauquier; Karine Rizzoti; Mehul T Dattani; Robin Lovell-Badge; Iain C A F Robinson
SOX2-expressing progenitor cells generate all of the major cell types in the adult mouse pituitary gland.
Proceedings of the National Academy of Sciences of the United States of America 2008;105(8):2907-12.
2008: Ameeta Mehta; Mehul T Dattani
Developmental disorders of the hypothalamus and pituitary gland associated with congenital hypopituitarism.
Best practice & research. Clinical endocrinology & metabolism 2008;22(1):191-206.
2008: V Tziaferi; Daniel Kelberman; Mehul T Dattani
The role of SOX2 in hypogonadotropic hypogonadism.
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation 2008;2(4-5):194-9.
2008: Daniel Kelberman; Mehul T Dattani
Septo-optic dysplasia - novel insights into the aetiology.
Hormone research 2008;69(5):257-65.
2008: Ezat Sajedi; Carles Gaston-Massuet; Cynthia L Andoniadou; Massimo Signore; Paul Hurd; Mehul T Dattani; Juan Pedro Martinez-Barbera
DNMT1 interacts with the developmental transcriptional repressor HESX1.
Biochimica et biophysica acta 2008;1783(1):131-43.
2007: Vibor Petkovic; Didier Lochmatter; James P G Turton; Peter E Clayton; Peter J Trainer; Mehul T Dattani; Andrée Eblé; Iain C A F Robinson; Christa E Flück; Primus E Mullis
Exon splice enhancer mutation (GH-E32A) causes autosomal dominant growth hormone deficiency.
The Journal of clinical endocrinology and metabolism 2007;92(11):4427-35.
2007: Sophie Vallette-Kasic; Catherine Couture; Aurelio Balsalobre; Yves Gauthier; Louise A Metherell; Mehul T Dattani; Jacques Drouin
The TPIT gene mutation M86R associated with isolated adrenocorticotropin deficiency interferes with protein: protein interactions.
The Journal of clinical endocrinology and metabolism 2007;92(10):3991-9.
2007: Daniel Kelberman; Mehul T Dattani
Hypothalamic and pituitary development: novel insights into the aetiology.
European journal of endocrinology / European Federation of Endocrine Societies 2007;157 Suppl 1():S3-14.
2007: Cynthia L Andoniadou; Massimo Signore; Ezat Sajedi; Carles Gaston-Massuet; Daniel Kelberman; Alan J Burns; Nobue Itasaki; Mehul T Dattani; Juan Pedro Martinez-Barbera
Lack of the murine homeobox gene Hesx1 leads to a posterior transformation of the anterior forebrain.
Development (Cambridge, England) 2007;134(8):1499-508.
2007: Lin Lin; Pascal Philibert; Bruno Ferraz-de-Souza; Daniel Kelberman; Tessa Homfray; Assunta Albanese; Veruska Molini; Neil J Sebire; Silvia Einaudi; Gerard S Conway; Ieuan A Hughes; J Larry Jameson; Charles Sultan; Mehul T Dattani; John C Achermann
Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function.
The Journal of clinical endocrinology and metabolism 2007;92(3):991-9.
2007: Lin Lin; Oya Ercan; Jamal Raza; Christine P Burren; Sarah M Creighton; Richard J Auchus; Mehul T Dattani; John C Achermann
Variable phenotypes associated with aromatase (CYP19) insufficiency in humans.
The Journal of clinical endocrinology and metabolism 2007;92(3):982-90.
2007: Lin Lin; Peter C Hindmarsh; Louise A Metherell; Mahmoud Alzyoud; Maryam Al-Ali; Caroline E Brain; Adrian J L Clark; Mehul T Dattani; John C Achermann
Severe loss-of-function mutations in the adrenocorticotropin receptor (ACTHR, MC2R) can be found in patients diagnosed with salt-losing adrenal hypoplasia.
Clinical endocrinology 2007;66(2):205-10.
2007: David E G McNay; James P G Turton; Daniel Kelberman; Kathryn S Woods; Raja Brauner; Anastasios Papadimitriou; Eberhard Keller; Alexandra Keller; Nele Haufs; Heiko Krude; Stephen M Shalet; Mehul T Dattani
HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism.
The Journal of clinical endocrinology and metabolism 2007;92(2):691-7.
2007: I Sadaf Farooqi; Teresia Wangensteen; Stephan Collins; Wendy Kimber; Giuseppe Matarese; Julia M Keogh; Emma Lank; Bill Bottomley; Judith Lopez-Fernandez; Ivan Ferraz-Amaro; Mehul T Dattani; Oya Ercan; Anne Grethe Myhre; Lars Retterstol; Richard Stanhope; Julie A Edge; Sheila McKenzie; Nader Lessan; Maryam Ghodsi; Veronica De Rosa; Francesco Perna; Silvia Fontana; Inês Barroso; DAG UNDLIEN; Stephen O'Rahilly
Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor.
The New England journal of medicine 2007;356(3):237-47.
2007: Daniel Kelberman; Mehul T Dattani
Hypopituitarism oddities: congenital causes.
Hormone research 2007;68 Suppl 5():138-44.
2007: Daniel Kelberman; Mehul T Dattani
Genetics of septo-optic dysplasia.
Pituitary 2007;10(4):393-407.
2006: James P G Turton; Charles R Buchanan; Iain C A F Robinson; S J B Aylwin; Mehul T Dattani
Evolution of gonadotropin deficiency in a patient with type II autosomal dominant GH deficiency.
European journal of endocrinology / European Federation of Endocrine Societies 2006;155(6):793-9.
2006: Lin Lin; Gerard S Conway; Nathan R Hill; Mehul T Dattani; Peter C Hindmarsh; John C Achermann
A homozygous R262Q mutation in the gonadotropin-releasing hormone receptor presenting as constitutional delay of growth and puberty with subsequent borderline oligospermia.
The Journal of clinical endocrinology and metabolism 2006;91(12):5117-21.
2006: Daniel Kelberman; Karine Rizzoti; Ariel A Avilion; Maria Bitner-Glindzicz; Stefano Cianfarani; Julie Collins; W Kling Chong; Jeremy M W Kirk; John C Achermann; Richard Ross; Danielle Carmignac; Robin Lovell-Badge; Iain C A F Robinson; Mehul T Dattani
Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans.
The Journal of clinical investigation 2006;116(9):2442-55.
2006: Peter C Hindmarsh; Mehul T Dattani
Use of growth hormone in children.
Nature clinical practice. Endocrinology & metabolism 2006;2(5):260-8.
2006: Daniel Kelberman; Mehul T Dattani
The role of transcription factors implicated in anterior pituitary development in the aetiology of congenital hypopituitarism.
Annals of medicine 2006;38(8):560-77.
2005: Ameeta Mehta; Peter C Hindmarsh; Richard Stanhope; James P G Turton; Tim J Cole; Michael A Preece; Mehul T Dattani
The role of growth hormone in determining birth size and early postnatal growth, using congenital growth hormone deficiency (GHD) as a model.
Clinical endocrinology 2005;63(2):223-31.
2005: Mehul T Dattani
Growth hormone deficiency and combined pituitary hormone deficiency: does the genotype matter?
Clinical endocrinology 2005;63(2):121-30.
2005: James P G Turton; Rachel Reynaud; Ameeta Mehta; John Torpiano; Alexandru Saveanu; Kathryn S Woods; Anatoly Tiulpakov; Vera Zdravkovic; Jill Hamilton; Simon Attard-Montalto; Ray Parascandalo; Cecil Vella; Peter E Clayton; Stephen M Shalet; John Barton; Thierry Brue; Mehul T Dattani
Novel mutations within the POU1F1 gene associated with variable combined pituitary hormone deficiency.
The Journal of clinical endocrinology and metabolism 2005;90(8):4762-70.
2005: James P G Turton; Ameeta Mehta; Jamal Raza; Kathryn S Woods; Anatoly Tiulpakov; Joseph Cassar; Kling Chong; Paul Q Thomas; Marumudi Eunice; Ariachery C Ammini; Pierre Bouloux; Jerzy Starzyk; Peter C Hindmarsh; Mehul T Dattani
Mutations within the transcription factor PROP1 are rare in a cohort of patients with sporadic combined pituitary hormone deficiency (CPHD).
Clinical endocrinology 2005;63(1):10-8.
2005: Khalid Hussain; Karen E Cosgrove; Ruth M Shepherd; A Luharia; Virpi V Smith; Sameer Kassem; John W Gregory; A Sivaprasadarao; Henrik Christesen; Bendt Brock Jacobsen; Klaus Brusgaard; Benjamin Glaser; E A Maher; Keith J Lindley; Peter Hindmarsh; Mehul T Dattani; Mark J Dunne
Hyperinsulinemic hypoglycemia in Beckwith-Wiedemann syndrome due to defects in the function of pancreatic beta-cell adenosine triphosphate-sensitive potassium channels.
The Journal of clinical endocrinology and metabolism 2005;90(7):4376-82.
2005: Kathryn S Woods; Maria Cundall; James P G Turton; Karine Rizotti; Ameeta Mehta; Rodger Palmer; Jacqueline Wong; W K Chong; Mahmoud Al-Zyoud; Maryam El-Ali; Timo Otonkoski; Juan Pedro Martinez-Barbera; Paul Q Thomas; Iain C A F Robinson; Robin Lovell-Badge; Karen J Woodward; Mehul T Dattani
Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism.
American journal of human genetics 2005;76(5):833-49.
2005: Ameeta Mehta; Peter C Hindmarsh; Mehul T Dattani
An update on the biochemical diagnosis of congenital ACTH insufficiency.
Clinical endocrinology 2005;62(3):307-14.
2004: Louise A Metherell; Martin O Savage; Mehul T Dattani; J Walker; Peter E Clayton; I S Farooqi; Adrian J L Clark
TPIT mutations are associated with early-onset, but not late-onset isolated ACTH deficiency.
European journal of endocrinology / European Federation of Endocrine Societies 2004;151(4):463-5.
2004: Mehul T Dattani; Michael Preece
Growth hormone deficiency and related disorders: insights into causation, diagnosis, and treatment.
Lancet 2004;363(9425):1977-87.
2004: Mehul T Dattani
Novel insights into the aetiology and pathogenesis of hypopituitarism.
Hormone research 2004;62 Suppl 3():1-13.
2003: Mehul T Dattani
Borjeson-Forssman-Lehmann syndrome: a novel pituitary phenotype due to mutation in a novel gene.
Journal of pediatric endocrinology & metabolism : JPEM 2003;16(9):1207-9.
2003: Ameeta Mehta; Peter C Hindmarsh; Richard Stanhope; Caroline E Brain; Michael A Preece; Mehul T Dattani
Is the thyrotropin-releasing hormone test necessary in the diagnosis of central hypothyroidism in children.
The Journal of clinical endocrinology and metabolism 2003;88(12):5696-703.
2003: Robert S Jackson; John W M Creemers; I Sadaf Farooqi; Marie-Laure Raffin-Sanson; Andrea Varro; Graham J Dockray; Jens J Holst; Patricia L Brubaker; Pierre Corvol; Kenneth S Polonsky; Diane Ostrega; Kenneth L Becker; Xavier Bertagna; John C Hutton; Anne White; Mehul T Dattani; Khalid Hussain; Stephen J Middleton; Thomasina M Nicole; Peter J Milla; Keith J Lindley; Stephen O'Rahilly
Small-intestinal dysfunction accompanies the complex endocrinopathy of human proprotein convertase 1 deficiency.
The Journal of clinical investigation 2003;112(10):1550-60.
2003: Luciani R Carvalho; Kathryn S Woods; Berenice B Mendonca; Nathalie Marcal; Andrea L Zamparini; Stefano Stifani; Joshua M Brickman; Ivo J P Arnhold; Mehul T Dattani
A homozygous mutation in HESX1 is associated with evolving hypopituitarism due to impaired repressor-corepressor interaction.
The Journal of clinical investigation 2003;112(8):1192-201.
2003: Sarah M Creighton; Philip G Ransley; Patrick Duffy; Duncan Wilcox; Imran Mushtaq; Peter M Cuckow; Christopher R J Woodhouse; Catherine L Minto; Naomi S Crouch; Richard Stanhope; Ieuan Hughes; Mehul T Dattani; Peter Hindmarsh; Caroline Brain; John Achermann; Gerard Conway; Lih-Mei Liao; Angela Barnicoat; Les Perry
Regarding the consensus statement on 21-hydroxylase deficiency from the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology.
The Journal of clinical endocrinology and metabolism 2003;88(7):3455; author reply 3456.
2003: Edna F Roche; Evangelia Charmandari; Mehul T Dattani; Peter C Hindmarsh
Blood pressure in children and adolescents with congenital adrenal hyperplasia (21-hydroxylase deficiency): a preliminary report.
Clinical endocrinology 2003;58(5):589-96.
2003: Emma L Wakeling; Mehul T Dattani; Agnès Bloch-Zupan; Robin M Winter; Susan E Holder
Septo-optic dysplasia, subglottic stenosis and skeletal abnormalities: a case report.
Clinical dysmorphology 2003;12(2):105-7.
2002: Mehul T Dattani
Structural hypothalamic defects.
Journal of pediatric endocrinology & metabolism : JPEM 2002;15 Suppl 5():1423-4.
2002: Mehul T Dattani; Iain C A F Robinson
HESX1 and Septo-Optic Dysplasia.
Reviews in endocrine & metabolic disorders 2002;3(4):289-300.
2002: Mehul T Dattani
GH deficiency might be associated with normal height in PROP1 deficiency.
Clinical endocrinology 2002;57(2):157-8.
2002: Kyriaki Karavanaki; Andriani Divoli; Mehul T Dattani; George Briassoulis; Virginia Theodorou; Vasiliki Hatzara; Spyros Avlonitis
Multiple pituitary hormone abnormalities, fever, behavioral problems, seizures and apnoic spells in a 6-year old girl.
Hormones (Athens, Greece) 2002;1(2):121-5.
2002: Nigel P Mongan; Jarmo Jääskeläinen; Katherine Green; John W R Schwabe; Naoto Shimura; Mehul T Dattani; Ieuan A Hughes
Two de novo mutations in the AR gene cause the complete androgen insensitivity syndrome in a pair of monozygotic twins.
The Journal of clinical endocrinology and metabolism 2002;87(3):1057-61.
2001: Joshua M Brickman; Melanie Clements; R Tyrell; David E G McNay; K Woods; J Warner; A Stewart; Rosa S P Beddington; Mehul T Dattani
Molecular effects of novel mutations in Hesx1/HESX1 associated with human pituitary disorders.
Development (Cambridge, England) 2001;128(24):5189-99.
2001: Evangelia Charmandari; Mehul T Dattani; L A Perry; Peter C Hindmarsh; Charles G D Brook
Kinetics and effect of percutaneous administration of dihydrotestosterone in children.
Hormone research 2001;56(5-6):177-81.
2001: Paul Q Thomas; Mehul T Dattani; Joshua M Brickman; David E G McNay; Garry L Warne; Margaret R Zacharin; Fergus J Cameron; J Hurst; K Woods; David D Dunger; R Stanhope; S Forrest; Iain C A F Robinson; Rosa S P Beddington
Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia.
Human molecular genetics 2001;10(1):39-45.
2000: Mehul T Dattani; Iain C A F Robinson
The molecular basis for developmental disorders of the pituitary gland in man.
Clinical genetics 2000;57(5):337-46.
2000: Jean-Marc Nuoffer; Christa E Flück; Johnny Deladoëy; Andrée Eblé; Mehul T Dattani; Primus E Mullis
Regulation of human GH receptor gene transcription by 20 and 22 kDa GH in a human hepatoma cell line.
The Journal of endocrinology 2000;165(2):313-20.
1999: Mehul T Dattani; Juan Pedro Martinez-Barbera; Paul Q Thomas; Joshua M Brickman; R Gupta; JK Wales; Peter C Hindmarsh; Rosa S P Beddington; Iain C A F Robinson
HESX1: a novel gene implicated in a familial form of septo-optic dysplasia.
Acta paediatrica (Oslo, Norway : 1992). Supplement 1999;88(433):49-54.
1999: H Mitchell; Mehul T Dattani; V Nanduri; Peter C Hindmarsh; Michael A Preece; Charles G D Brook
Failure of IGF-I and IGFBP-3 to diagnose growth hormone insufficiency.
Archives of disease in childhood 1999;80(5):443-7.
1998: Mehul T Dattani; Juan Pedro Martinez-Barbera; Paul Q Thomas; Joshua M Brickman; R Gupta; I L Mårtensson; H Toresson; M Fox; JK Wales; Peter C Hindmarsh; S Krauss; Rosa S P Beddington; Iain C A F Robinson
Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse.
Nature genetics 1998;19(2):125-33.