Mehul T. Dattani

Best Publications

• Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor.

  I. Sadaf Farooqi;Teresia Wangensteen;Stephan Collins;Wendy Kimber

  904
  Citations

• Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse

  Mehul T. Dattani;Juan-Pedro Martinez-Barbera;Paul Q. Thomas;Joshua M. Brickman

  894
  Citations

• Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism—pathogenesis, diagnosis and treatment

  Ulrich Boehm;Pierre Marc Bouloux;Mehul T. Dattani;Nicolas De Roux

  858
  Citations

• A mutation in the thyroid hormone receptor alpha gene.

  Bochukova E;Schoenmakers N;Agostini M;Schoenmakers E

  439
  Citations

• Genetic Regulation of Pituitary Gland Development in Human and Mouse

  Daniel Kelberman;Karine Rizzoti;Robin Lovell-Badge;Iain C. A. F. Robinson

  435
  Citations

• Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans

  Daniel Kelberman;Karine Rizzoti;Ariel Avilion;Maria Bitner-Glindzicz

  391
  Citations

• Small-intestinal dysfunction accompanies the complex endocrinopathy of human proprotein convertase 1 deficiency

  Robert S Jackson;John W M Creemers;I Sadaf Farooqi;Marie-Laure Raffin-Sanson

  385
  Citations

• SOX2-expressing progenitor cells generate all of the major cell types in the adult mouse pituitary gland

  Teddy Fauquier;Karine Rizzoti;Mehul Dattani;Robin Lovell-Badge

  379
  Citations

• Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia

  Paul Q. Thomas;Mehul T. Dattani;Mehul T. Dattani;Joshua M. Brickman;David McNay

  346
  Citations

• Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism

  Kathryn S. Woods;Maria Cundall;James Turton;Karine Rizotti

  330
  Citations

• Mutations in the selenocysteine insertion sequence–binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans

  Erik Schoenmakers;Maura Agostini;Catherine Mitchell;Nadia Schoenmakers

  316
  Citations

• A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism

  Adam J. de Smith;Carolin Purmann;Robin G. Walters;Richard J. Ellis

  306
  Citations

• Sox2+ Stem/Progenitor Cells in the Adult Mouse Pituitary Support Organ Homeostasis and Have Tumor-Inducing Potential

  Cynthia Lilian Andoniadou;Danielle Matsushima;Seyedeh Neda Mousavy Gharavy;Massimo Signore

  294
  Citations

• Increased Wingless (Wnt) signaling in pituitary progenitor/stem cells gives rise to pituitary tumors in mice and humans

  Carles Gaston-Massuet;Cynthia Lilian Andoniadou;Massimo Signore;Sujatha A. Jayakody

  287
  Citations

• 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.

  Damian Smedley;Katherine R. Smith;Antonio Martin

  266
  Citations

• Brook's Clinical Pediatric Endocrinology

  Mehul T. Dattani;C. G. D. Brook

  242
  Citations

• Septo-optic dysplasia

  Emma A Webb;Mehul T Dattani

  236
  Citations

• Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement

  Yu Sun;Beata Bak;Nadia Schoenmakers;A. S Paul Van Trotsenburg

  220
  Citations

• Mitochondrial disease and endocrine dysfunction

  Jasmine Chow;Joyeeta Rahman;John C. Achermann;Mehul T. Dattani;Mehul T. Dattani

  211
  Citations

• Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function.

  Lin Lin;Lin Lin;Pascal Philibert;Bruno Ferraz-de-Souza;Bruno Ferraz-de-Souza;Daniel Kelberman

  198
  Citations