Publications by authors named "Mehul T Dattani"

100Publications

Congenital growth hormone deficiency associated with hip dysplasia and Legg-Calve-Perthes disease.

Clin Endocrinol (Oxf) 2020 Nov 4. Epub 2020 Nov 4.

Great Ormond Street Hospital for Children, London, UK.

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http://dx.doi.org/10.1111/cen.14365DOI Listing
November 2020

Development of the Pituitary Gland.

Compr Physiol 2020 03 12;10(2):389-413. Epub 2020 Mar 12.

Genetics and Genomic Medicine Programme, UCL Great Ormond Street Institute of Child Health, University College London (UCL), London, UK.

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http://dx.doi.org/10.1002/cphy.c150043DOI Listing
March 2020

Pathogenesis of Growth Failure in Rasopathies.

Pediatr Endocrinol Rev 2019 May;16(Suppl 2):447-458

Department of Paediatric Endocrinology, Great Ormond Street Hospital for Children, London WC1N 3JH, Genetics and Genomic Medicine Programme, UCL GOS Institute of Child Health, E-mail:

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http://dx.doi.org/10.17458/per.vol16.2019.ad.pathogenesisrasopathiesDOI Listing
May 2019

Sotos Syndrome Presenting with Neonatal Hyperinsulinaemic Hypoglycaemia, Extensive Thrombosis, and Multisystem Involvement.

Horm Res Paediatr 2019 15;92(1):64-70. Epub 2019 Mar 15.

Department of Endocrinology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.

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http://dx.doi.org/10.1159/000496545DOI Listing
April 2020

Letrozole: a new treatment for delayed puberty in boys?

Authors:
Mehul T Dattani

Lancet Child Adolesc Health 2019 02 4;3(2):60-62. Epub 2019 Jan 4.

London Centre for Paediatric Endocrinology and Diabetes, Great Ormond Street Hospital for Children and University College London (UCL) Hospital, London, UK; Genetics and Genomic Medicine Programme, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S23524642183040
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http://dx.doi.org/10.1016/S2352-4642(18)30405-XDOI Listing
February 2019

A novel IGSF1 mutation in a large Irish kindred highlights the need for familial screening in the IGSF1 deficiency syndrome.

Clin Endocrinol (Oxf) 2018 12 1;89(6):813-823. Epub 2018 Oct 1.

Wellcome Trust-Medical Research Council Institute of Metabolic Science, Addenbrooke's Hospital and National Institute for Health Research Cambridge Biomedical Research Centre, Addenbrooke's Hospital, University of Cambridge Metabolic Research Laboratories, Cambridge, UK.

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http://doi.wiley.com/10.1111/cen.13827
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http://dx.doi.org/10.1111/cen.13827DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6282842PMC
December 2018

45,X/46,XY Mosaicism Presenting With Isolated Unilateral Cryptorchidism and a Normal Blood Karyotype.

J Clin Endocrinol Metab 2018 06;103(6):2079-2082

Department of Endocrinology, Great Ormond Street Hospital for Children, London, United Kingdom.

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http://dx.doi.org/10.1210/jc.2017-02671DOI Listing
June 2018

Progression from isolated growth hormone deficiency to combined pituitary hormone deficiency.

Growth Horm IGF Res 2017 12 19;37:19-25. Epub 2017 Oct 19.

Developmental Endocrinology Research Group, UCL Institute of Child Health and Department of Endocrinology, Great Ormond Street Hospital for Children, WC1N 1EH, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ghir.2017.10.005DOI Listing
December 2017

Cushing syndrome in a child due to pro-opiomelanocortin (POMC) secretion from a yolk sac tumor.

Eur J Endocrinol 2017 Feb 22;176(2):K1-K7. Epub 2016 Nov 22.

Department of EndocrinologyGreat Ormond Street Hospital for Children, London, UK

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http://dx.doi.org/10.1530/EJE-16-0776DOI Listing
February 2017

Mitochondrial disease and endocrine dysfunction.

Nat Rev Endocrinol 2017 02 7;13(2):92-104. Epub 2016 Oct 7.

Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK.

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http://dx.doi.org/10.1038/nrendo.2016.151DOI Listing
February 2017

Management of Cushing syndrome in children and adolescents: experience of a single tertiary centre.

Eur J Pediatr 2016 Jul 12;175(7):967-76. Epub 2016 May 12.

London Centre for Paediatric Endocrinology and Diabetes, Great Ormond Street Hospital for Children, London, UK.

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http://dx.doi.org/10.1007/s00431-016-2727-5DOI Listing
July 2016

Evaluation of growth hormone stimulation testing in children.

Clin Endocrinol (Oxf) 2016 May 25;84(5):708-14. Epub 2016 Feb 25.

Department of Paediatric Endocrinology, UCL Institute of Child Health/Great Ormond Street Hospital for Children/UCL Hospitals, London, UK.

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http://dx.doi.org/10.1111/cen.13035DOI Listing
May 2016

Recent advances in central congenital hypothyroidism.

J Endocrinol 2015 Dec 28;227(3):R51-71. Epub 2015 Sep 28.

University of Cambridge Metabolic Research LaboratoriesWellcome Trust-Medical Research Council Institute of Metabolic Science, Addenbrooke's Hospital, Level 4, PO Box 289, Hills Road, Cambridge CB2 0QQ, UKDevelopmental Endocrinology Research GroupSection of Genetics and Epigenetics in Health and Disease, Genetics and Genomic Medicine Programme, UCL Institute of Child Health, London, UK.

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http://joe.endocrinology-journals.org/content/227/3/R51.full
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http://dx.doi.org/10.1530/JOE-15-0341DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4629398PMC
December 2015

Decade in review-paediatric endocrinology: New genes, new therapies.

Authors:
Mehul T Dattani

Nat Rev Endocrinol 2015 Nov 8;11(11):638-9. Epub 2015 Sep 8.

Genetics and Epigenetics in Health and Disease, Genetics and Genomic Medicine Programme, UCL Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK.

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http://dx.doi.org/10.1038/nrendo.2015.154DOI Listing
November 2015

Water Toxicity During Antroduodenal Manometry.

J Clin Gastroenterol 2015 Sep;49(8):715-6

Great Ormond Street Hospital for Children, London, UK.

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http://dx.doi.org/10.1097/MCG.0000000000000381DOI Listing
September 2015

Autosomal Dominant Growth Hormone Deficiency (Type II).

Pediatr Endocrinol Rev 2015 Jun;12(4):347-55

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June 2015

Genetic aspects of hypothalamic and pituitary gland development.

Handb Clin Neurol 2014 ;124:3-15

Developmental Endocrinology Research Group, Clinical and Molecular Genetics Unit, University College London-Institute of Child Health, London, UK. Electronic address:

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http://dx.doi.org/10.1016/B978-0-444-59602-4.00001-0DOI Listing
July 2016

Anticonvulsant treatment associated with intractable hypocalcaemia in a female child with hypoparathyroidism.

Horm Res Paediatr 2015 10;83(1):62-6. Epub 2014 Sep 10.

Department of Paediatrics, Mater Dei Hospital, Msida, Malta.

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http://dx.doi.org/10.1159/000365048DOI Listing
December 2015

Diagnosis and evaluation of hypogonadism.

Pediatr Endocrinol Rev 2014 Feb;11 Suppl 2:214-29

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February 2014

Isolated growth hormone deficiency (GHD) in childhood and adolescence: recent advances.

Endocr Rev 2014 Jun 22;35(3):376-432. Epub 2014 Jan 22.

Developmental Endocrinology Research Group (K.S.A., E.A.W., M.T.D.), Clinical and Molecular Genetics Unit, and Birth Defects Research Centre (P.L.T.), UCL Institute of Child Health, London WC1N 1EH, United Kingdom; and Faculty of Life Sciences (P.L.T.), University of Manchester, Manchester M13 9PT, United Kingdom.

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http://dx.doi.org/10.1210/er.2013-1067DOI Listing
June 2014

Cardiovascular risk factors in children and adolescents with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Clin Endocrinol (Oxf) 2014 Apr 8;80(4):471-7. Epub 2013 Jul 8.

Department of Endocrinology, Great Ormond Street Hospital for Children, London, UK.

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http://dx.doi.org/10.1111/cen.12265DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4204515PMC
April 2014

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 12;8(3):e59048. Epub 2013 Mar 12.

Developmental Endocrinology Research Group, Clinical and Molecular Genetics Unit, University College London Institute of Child Health, London, United Kingdom.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0059048PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3595222PMC
October 2013

Structural pituitary abnormalities associated with CHARGE syndrome.

J Clin Endocrinol Metab 2013 Apr 22;98(4):E737-43. Epub 2013 Mar 22.

Developmental Endocrinology Research Group, Clinical and Molecular Genetics Unit, University College London Institute of Child Health, London WC1N 1EH, United Kingdom.

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http://dx.doi.org/10.1210/jc.2012-3467DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3708033PMC
April 2013

Variations in PROKR2, but not PROK2, are associated with hypopituitarism and septo-optic dysplasia.

J Clin Endocrinol Metab 2013 Mar 5;98(3):E547-57. Epub 2013 Feb 5.

Developmental Endocrinology Research Group, Clinical and Molecular Genetics Unit, University College London (UCL)-Institute of Child Health, London WC1N 1EH, United Kingdom.

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http://dx.doi.org/10.1210/jc.2012-3067DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3612801PMC
March 2013

Pituitary gland development: an update.

Endocr Dev 2012 23;23:1-15. Epub 2012 Nov 23.

Developmental Endocrinology Research Group, Clinical and Molecular Genetics Unit, University College London-Institute of Child Health, London, UK.

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http://dx.doi.org/10.1159/000341733DOI Listing
May 2013

Urinary conjugated α-tocopheronolactone--a biomarker of oxidative stress in children with type 1 diabetes.

Free Radic Biol Med 2013 Feb 27;55:54-62. Epub 2012 Oct 27.

Biochemistry Research Group, Clinical & Molecular Genetics Unit, University College London Institute of Child Health, London WC1N 1EH, UK.

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http://dx.doi.org/10.1016/j.freeradbiomed.2012.09.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3573235PMC
February 2013

SOX2 regulates the hypothalamic-pituitary axis at multiple levels.

J Clin Invest 2012 Oct 4;122(10):3635-46. Epub 2012 Sep 4.

Neural Development Unit, Institute of Child Health, and Department of Cell and Developmental Biology, University College London, London, United Kingdom.

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http://dx.doi.org/10.1172/JCI64311DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3461924PMC
October 2012

Deconvolution analysis of 24-h serum cortisol profiles informs the amount and distribution of hydrocortisone replacement therapy.

Clin Endocrinol (Oxf) 2013 Mar;78(3):347-51

Department of Endocrinology, Great Ormond Street Hospital for Children, London, UK.

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http://dx.doi.org/10.1111/j.1365-2265.2012.04502.xDOI Listing
March 2013

How to use insulin-like growth factor 1 (IGF1).

Arch Dis Child Educ Pract Ed 2012 Jun 20;97(3):114-8. Epub 2012 Jan 20.

Department of Endocrinology, Great Ormond St Hospital, Great Ormond St, London, London WC1N 3JH, UK.

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http://dx.doi.org/10.1136/archdischild-2011-300265DOI Listing
June 2012

Analysis of LIN28A in early human ovary development and as a candidate gene for primary ovarian insufficiency.

Mol Cell Endocrinol 2012 Apr 3;351(2):264-8. Epub 2012 Jan 3.

Developmental Endocrinology Research Group, Clinical and Molecular Genetics Unit, University College London (UCL) Institute of Child Health, University College London, London WC1N 1EH, United Kingdom.

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http://dx.doi.org/10.1016/j.mce.2011.12.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3314903PMC
April 2012

Phenotype-genotype correlations in congenital isolated growth hormone deficiency (IGHD).

Indian J Pediatr 2012 Jan 3;79(1):99-106. Epub 2011 Dec 3.

Developmental Endocrinology Research Group, Clinical and Molecular Genetics Unit, UCL Institute of Child Health, Guilford Street, London, WC1N 1EH, UK.

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http://link.springer.com/content/pdf/10.1007/s12098-011-0614
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http://link.springer.com/10.1007/s12098-011-0614-7
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http://dx.doi.org/10.1007/s12098-011-0614-7DOI Listing
January 2012

Effect of growth hormone deficiency on brain structure, motor function and cognition.

Brain 2012 Jan 26;135(Pt 1):216-27. Epub 2011 Nov 26.

Developmental Endocrinology Research Group, UCL Institute of Child Health and Department of Endocrinology, Great Ormond Street Hospital for Children, WC1N 1EH London, UK.

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http://brain.oxfordjournals.org/content/brain/135/1/216.full
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http://www.brain.oxfordjournals.org/cgi/doi/10.1093/brain/aw
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http://dx.doi.org/10.1093/brain/awr305DOI Listing
January 2012

SOX2 haploinsufficiency is associated with slow progressing hypothalamo-pituitary tumours.

Hum Mutat 2011 Dec 11;32(12):1376-80. Epub 2011 Oct 11.

Developmental Endocrinology Research Group, Clinical and Molecular Genetics Unit, Institute of Child Health, University College London, London, UK.

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http://dx.doi.org/10.1002/humu.21606DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3487182PMC
December 2011

Absence of GH-releasing hormone (GHRH) mutations in selected patients with isolated GH deficiency.

J Clin Endocrinol Metab 2011 Sep 29;96(9):E1457-60. Epub 2011 Jun 29.

Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular, LIM/42, Disciplina de Endocrinologia, Hospital das Clinicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo 05403-900, Brazil.

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http://dx.doi.org/10.1210/jc.2011-0170DOI Listing
September 2011

Septo-optic dysplasia and other midline defects: the role of transcription factors: HESX1 and beyond.

Best Pract Res Clin Endocrinol Metab 2011 Feb;25(1):115-24

Developmental Endocrinology Research Group, Clinical and Molecular Genetics Unit, UCL Institute of Child Health, University College London, 30 Guilford Street, London, UK.

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http://dx.doi.org/10.1016/j.beem.2010.06.008DOI Listing
February 2011

Increased transactivation associated with SOX3 polyalanine tract deletion in a patient with hypopituitarism.

J Clin Endocrinol Metab 2011 Apr 2;96(4):E685-90. Epub 2011 Feb 2.

Developmental Endocrinology Research Group, Clinical and Molecular Genetics Unit, University College London Institute of Child Health, 30 Guilford Street, London WC1N 1EH, United Kingdom.

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https://academic.oup.com/jcem/article-lookup/doi/10.1210/jc.
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http://dx.doi.org/10.1210/jc.2010-1239DOI Listing
April 2011

The future of genomic endocrinology.

Front Endocrinol (Lausanne) 2011 25;2:11. Epub 2011 May 25.

Institute of Child Health, University College London London, UK.

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http://dx.doi.org/10.3389/fendo.2011.00011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3355890PMC
August 2012

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 J 2011 Apr 16;25(4):1166-75. Epub 2010 Dec 16.

Developmental Endocrinology Research Group, UCL Institute of Child Health, University College London, London, UK.

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http://dx.doi.org/10.1096/fj.10-170522DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3058709PMC
April 2011

Genetic causes and treatment of isolated growth hormone deficiency-an update.

Nat Rev Endocrinol 2010 Oct;6(10):562-76

UCL Institute of Child Health, London, UK.

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http://dx.doi.org/10.1038/nrendo.2010.147DOI Listing
October 2010

Use of combined liothyronine and thyroxine therapy for consumptive hypothyroidism associated with hepatic haemangiomas in infancy.

Horm Res Paediatr 2010 3;74(2):149-52. Epub 2010 Jun 3.

Department of Paediatric Endocrinology, Great Ormond Street Hospital and Institute for Child Health, London, UK.

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https://www.karger.com/Article/FullText/281884
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http://dx.doi.org/10.1159/000281884DOI Listing
November 2010

Cystic fibrosis-related diabetes in childhood.

Horm Res Paediatr 2010 15;73(1):15-24. Epub 2010 Jan 15.

Developmental Endocrinology Research Group, Clinical and Molecular Genetics Unit, Institute of Child Health, University College London, London, UK.

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http://dx.doi.org/10.1159/000271912DOI Listing
May 2010

Growth hormone (GH) deficiency type II: a novel GH-1 gene mutation (GH-R178H) affecting secretion and action.

J Clin Endocrinol Metab 2010 Feb 1;95(2):731-9. Epub 2009 Dec 1.

University Children's Hospital, Pediatric Endocrinology, Inselspital CH-3010 Bern, Switzerland.

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http://dx.doi.org/10.1210/jc.2009-1247DOI Listing
February 2010

Genetic regulation of pituitary gland development in human and mouse.

Endocr Rev 2009 Dec 16;30(7):790-829. Epub 2009 Oct 16.

Developmental Endocrinology Research Group, Clinical and Molecular Genetics Unit, Institute of Child Health, 30 Guilford Street, London WC1N 1EH, United Kingdom.

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https://academic.oup.com/edrv/article-lookup/doi/10.1210/er.
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http://dx.doi.org/10.1210/er.2009-0008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2806371PMC
December 2009

Genetic forms of hypopituitarism and their manifestation in the neonatal period.

Early Hum Dev 2009 Nov 16;85(11):705-12. Epub 2009 Sep 16.

Developmental Endocrinology Research Group, Clinical and Molecular Genetics Unit, UCL Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK.

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http://dx.doi.org/10.1016/j.earlhumdev.2009.08.057DOI Listing
November 2009

Septo-optic dysplasia.

Eur J Hum Genet 2010 Apr 22;18(4):393-7. Epub 2009 Jul 22.

Developmental Endocrinology Research Group, Clinical and Molecular Genetics Unit, UCL Institute of Child Health, University College London, London WC1N 1EH, UK.

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http://dx.doi.org/10.1038/ejhg.2009.125DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987262PMC
April 2010

Acanthosis nigricans and insulin sensitivity in patients with achondroplasia and hypochodroplasia due to FGFR3 mutations.

J Clin Endocrinol Metab 2009 Oct 21;94(10):3959-63. Epub 2009 Jul 21.

Developmental Endocrinology Research Group, University College London, Institute of Child Health, London WC1N 1EH, United Kingdom.

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http://dx.doi.org/10.1210/jc.2009-0322DOI Listing
October 2009

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.

J Clin Endocrinol Metab 2009 Aug 2;94(8):2686-91. Epub 2009 Jun 2.

Developmental Endocrinology Research Group, Clinical and Molecular Genetics Unit, Institute of Child Health, University College of London, Great Ormond Street Hospital for Children, 30 Guilford Street, London, UK.

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https://academic.oup.com/jcem/article-lookup/doi/10.1210/jc.
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http://dx.doi.org/10.1210/jc.2008-2788DOI Listing
August 2009

The candidate gene approach to the diagnosis of monogenic disorders.

Authors:
Mehul T Dattani

Horm Res 2009 Apr 29;71 Suppl 2:14-21. Epub 2009 Apr 29.

Developmental Endocrinology Research Group, UCL Institute of Child Health, London, UK.

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https://www.karger.com/Article/FullText/192431
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http://dx.doi.org/10.1159/000192431DOI Listing
April 2009

Congenital hypopituitarism: clinical, molecular and neuroradiological correlates.

Clin Endocrinol (Oxf) 2009 Sep 6;71(3):376-82. Epub 2009 Mar 6.

Developmental Endocrinology Research Group, Institute of Child Health and Great Ormond Street Hospital for Sick Children, University College London, London, UK.

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http://dx.doi.org/10.1111/j.1365-2265.2009.03572.xDOI Listing
September 2009

The role of SOX proteins in normal pituitary development.

J Endocrinol 2009 Mar 12;200(3):245-58. Epub 2008 Dec 12.

Clinical and Academic Lead in Endocrinology, Developmental Endocrinology Research Group, Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London, UK.

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http://joe.endocrinology-journals.org/content/early/2008/12/
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http://joe.endocrinology-journals.org/cgi/doi/10.1677/JOE-08
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http://dx.doi.org/10.1677/JOE-08-0447DOI Listing
March 2009

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.

J Clin Endocrinol Metab 2009 Mar 18;94(3):780-5. Epub 2008 Nov 18.

London Centre for Paediatric Endocrinology at Great Ormond Street Hospital for Children and University College London Hospitals, London WC1N 3JH, United Kingdom.

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http://dx.doi.org/10.1210/jc.2008-0302DOI Listing
March 2009

Developmental disorders of the hypothalamus and pituitary gland associated with congenital hypopituitarism.

Best Pract Res Clin Endocrinol Metab 2008 Feb;22(1):191-206

Developmental Endocrinology Research Group, Clinical and Molecular Genetics Unit, Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK.

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http://linkinghub.elsevier.com/retrieve/pii/S1521690X0700062
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http://dx.doi.org/10.1016/j.beem.2007.07.007DOI Listing
February 2008

Hypopituitarism oddities: congenital causes.

Horm Res 2007 10;68 Suppl 5:138-44. Epub 2007 Dec 10.

Developmental Endocrinology Research Group, Institute of Child Health, London, UK.

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http://dx.doi.org/10.1159/000110610DOI Listing
March 2008

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.

J Clin Endocrinol Metab 2008 Mar 20;93(3):974-80. Epub 2007 Nov 20.

University Children's Hospital, Pediatric Endocrinology, Diabetology, & Metabolism, University of Bern, CH-3010 Bern, Switzerland.

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http://dx.doi.org/10.1210/jc.2007-1382DOI Listing
March 2008

Exon splice enhancer mutation (GH-E32A) causes autosomal dominant growth hormone deficiency.

J Clin Endocrinol Metab 2007 Nov 28;92(11):4427-35. Epub 2007 Aug 28.

Department of Pediatric Endocrinology, Diabetology, and Metabolism, Inselspital, University Children's Hospital, CH-3010 Bern, Switzerland.

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http://dx.doi.org/10.1210/jc.2007-0857DOI Listing
November 2007

The role of transcription factors implicated in anterior pituitary development in the aetiology of congenital hypopituitarism.

Ann Med 2006 ;38(8):560-77

Biochemistry, Endocrinology and Metabolism Unit, Institute for Child Health, London, UK.

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http://dx.doi.org/10.1080/07853890600994963DOI Listing
May 2007

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

J Clin Endocrinol Metab 2007 Mar 2;92(3):991-9. Epub 2007 Jan 2.

Developmental Endocrinology Research Group, Clinical and Molecular Genetics Unit, UCL Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH, United Kingdom.

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http://dx.doi.org/10.1210/jc.2006-1672DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1872053PMC
March 2007

Variable phenotypes associated with aromatase (CYP19) insufficiency in humans.

J Clin Endocrinol Metab 2007 Mar 12;92(3):982-90. Epub 2006 Dec 12.

Developmental Endocrinology Research Group, Clinical and Molecular Genetics Unit, UCL Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH, United Kingdom.

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http://dx.doi.org/10.1210/jc.2006-1181DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1955738PMC
March 2007

HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism.

J Clin Endocrinol Metab 2007 Feb 5;92(2):691-7. Epub 2006 Dec 5.

Biochemistry, Endocrinology, and Metabolism Unit, Institute of Child Health, London WC1N 1EH, United Kingdom.

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http://dx.doi.org/10.1210/jc.2006-1609DOI Listing
February 2007

Evolution of gonadotropin deficiency in a patient with type II autosomal dominant GH deficiency.

Eur J Endocrinol 2006 Dec;155(6):793-9

Biochemistry, Endocrinology and Metabolism Unit and London Centre for Paediatric Endocrinology, Institute of Child Health, London, UK.

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http://dx.doi.org/10.1530/eje.1.02293DOI Listing
December 2006

Use of growth hormone in children.

Nat Clin Pract Endocrinol Metab 2006 May;2(5):260-8

Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health, University College London, London, UK.

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http://dx.doi.org/10.1038/ncpendmet0169DOI Listing
May 2006

The role of growth hormone in determining birth size and early postnatal growth, using congenital growth hormone deficiency (GHD) as a model.

Clin Endocrinol (Oxf) 2005 Aug;63(2):223-31

London Centre for Paediatric Endocrinology and Metabolism, Institute of Child Health, University College London, London, UK.

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http://doi.wiley.com/10.1111/j.1365-2265.2005.02330.x
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http://dx.doi.org/10.1111/j.1365-2265.2005.02330.xDOI Listing
August 2005

Growth hormone deficiency and combined pituitary hormone deficiency: does the genotype matter?

Authors:
Mehul T Dattani

Clin Endocrinol (Oxf) 2005 Aug;63(2):121-30

Biochemistry, Endocrinology and Metabolism Unit, Institute for Child Health, London, UK.

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http://dx.doi.org/10.1111/j.1365-2265.2005.02289.xDOI Listing
August 2005

Novel mutations within the POU1F1 gene associated with variable combined pituitary hormone deficiency.

J Clin Endocrinol Metab 2005 Aug 31;90(8):4762-70. Epub 2005 May 31.

Biochemistry, Endocrinology, and Metabolism Unit and London Centre for Paediatric Endocrinology, Institute of Child Health, London, United Kingdom.

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http://dx.doi.org/10.1210/jc.2005-0570DOI Listing
August 2005

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

Am J Hum Genet 2005 May 30;76(5):833-49. Epub 2005 Mar 30.

London Centre for Paediatric Endocrinology, Biochemistry, Endocrinology, and Metabolism Unit, Institute of Child Health, University College London, London, United Kingdom.

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http://dx.doi.org/10.1086/430134DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1199372PMC
May 2005

An update on the biochemical diagnosis of congenital ACTH insufficiency.

Clin Endocrinol (Oxf) 2005 Mar;62(3):307-14

London Centre of Paediatric Endocrinology and Metabolism, Great Ormond Street Children's Hospital and the Institute of Child Health, University College London, London, UK.

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http://dx.doi.org/10.1111/j.1365-2265.2005.02215.xDOI Listing
March 2005

Novel insights into the aetiology and pathogenesis of hypopituitarism.

Authors:
Mehul T Dattani

Horm Res 2004 ;62 Suppl 3:1-13

Department of Paediatric Endocrinology, Institute of Child Health, London, UK.

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http://dx.doi.org/10.1159/000080493DOI Listing
June 2005

Is the thyrotropin-releasing hormone test necessary in the diagnosis of central hypothyroidism in children.

J Clin Endocrinol Metab 2003 Dec;88(12):5696-703

London Center of Pediatric Endocrinology and Metabolism and Institute of Child Health, London, United Kingdom WC1N 1EH.

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http://dx.doi.org/10.1210/jc.2003-030943DOI Listing
December 2003

A homozygous mutation in HESX1 is associated with evolving hypopituitarism due to impaired repressor-corepressor interaction.

J Clin Invest 2003 Oct;112(8):1192-201

Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular, Disciplina de Endocrinologia, Hospital das Clinicas de Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.

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http://dx.doi.org/10.1172/JCI18589DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC213489PMC
October 2003

Septo-optic dysplasia, subglottic stenosis and skeletal abnormalities: a case report.

Clin Dysmorphol 2003 Apr;12(2):105-7

North West Thames Regional Genetics Service, Kennedy-Galton Centre, Level 8 V, North West London Hospitals NHS Trust, Watford Road, Harrow, Middlesex HAl 3UJ, UK.

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http://dx.doi.org/10.1097/00019605-200304000-00006DOI Listing
April 2003