Mehul Dattani

Research interests

Publications

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

  UCL Discovery (University College London) · 2021 · https://doi.org/10.17863/cam.108059

• 2018 European Thyroid Association (ETA) Guidelines on the Diagnosis and Management of Central Hypothyroidism

  European Thyroid Journal · 2018 · https://doi.org/10.1159/000491388

• Mitochondrial disease and endocrine dysfunction

  Nature Reviews Endocrinology · 2016 · https://doi.org/10.1038/nrendo.2016.151

• European Consensus Statement on congenital hypogonadotropic hypogonadism—pathogenesis, diagnosis and treatment

  Nature Reviews Endocrinology · 2015 · https://doi.org/10.1038/nrendo.2015.112

• Landscape of Familial Isolated and Young-Onset Pituitary Adenomas: Prospective Diagnosis in AIP Mutation Carriers

  The Journal of Clinical Endocrinology & Metabolism · 2015 · https://doi.org/10.1210/jc.2015-1869

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

  Cell stem cell · 2013 · https://doi.org/10.1016/j.stem.2013.07.004

• Identification of novel pathways involved in the pathogenesis of human adamantinomatous craniopharyngioma

  Acta Neuropathologica · 2012 · https://doi.org/10.1007/s00401-012-0957-9

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

  Nature Genetics · 2012 · https://doi.org/10.1038/ng.2453

• 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 · 2011 · https://doi.org/10.1073/pnas.1101553108

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

  Journal of Clinical Investigation · 2010 · https://doi.org/10.1172/jci43653

• Septo-optic dysplasia

  European Journal of Human Genetics · 2009 · https://doi.org/10.1038/ejhg.2009.125

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

  Human Molecular Genetics · 2009 · https://doi.org/10.1093/hmg/ddp263

• Genetic Regulation of Pituitary Gland Development in Human and Mouse

  Endocrine Reviews · 2009 · https://doi.org/10.1210/er.2009-0008

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

  Proceedings of the National Academy of Sciences · 2008 · https://doi.org/10.1073/pnas.0707886105

• Clinical and Molecular Genetic Spectrum of Congenital Deficiency of the Leptin Receptor

  New England Journal of Medicine · 2007 · https://doi.org/10.1056/nejmoa063988

• 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 & Metabolism · 2007 · https://doi.org/10.1210/jc.2006-1672

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

  Journal of Clinical Investigation · 2003 · https://doi.org/10.1172/jci200318784

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

  Journal of Clinical Investigation · 2003 · https://doi.org/10.1172/jci18784

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

  Nature Genetics · 1998 · https://doi.org/10.1038/477

Current projects

No projects listed.