Literature DB >> 26346954

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

Mehul T Dattani1.   

Abstract

Mesh:

Year:  2015        PMID: 26346954     DOI: 10.1038/nrendo.2015.154

Source DB:  PubMed          Journal:  Nat Rev Endocrinol        ISSN: 1759-5029            Impact factor:   43.330


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  10 in total

1.  Five-Year Metabolic, Functional, and Safety Results of Patients With Type 1 Diabetes Transplanted With Allogenic Islets Within the Swiss-French GRAGIL Network.

Authors:  Sandrine Lablanche; Sophie Borot; Anne Wojtusciszyn; Francois Bayle; Rachel Tétaz; Lionel Badet; Charles Thivolet; Emmanuel Morelon; Luc Frimat; Alfred Penfornis; Laurence Kessler; Coralie Brault; Cyrille Colin; Igor Tauveron; Domenico Bosco; Thierry Berney; Pierre-Yves Benhamou
Journal:  Diabetes Care       Date:  2015-06-11       Impact factor: 19.112

2.  Enzyme-replacement therapy in life-threatening hypophosphatasia.

Authors:  Michael P Whyte; Cheryl R Greenberg; Nada J Salman; Michael B Bober; William H McAlister; Deborah Wenkert; Bradley J Van Sickle; Jill H Simmons; Terence S Edgar; Martin L Bauer; Mohamed A Hamdan; Nick Bishop; Richard E Lutz; Mairead McGinn; Stanley Craig; Jean N Moore; John W Taylor; Robert H Cleveland; William R Cranley; Ruth Lim; Tom D Thacher; Jill E Mayhew; Matthew Downs; José Luis Millán; Alison M Skrinar; Philippe Crine; Hal Landy
Journal:  N Engl J Med       Date:  2012-03-08       Impact factor: 91.245

3.  International trial of the Edmonton protocol for islet transplantation.

Authors:  A M James Shapiro; Camillo Ricordi; Bernhard J Hering; Hugh Auchincloss; Robert Lindblad; R Paul Robertson; Antonio Secchi; Mathias D Brendel; Thierry Berney; Daniel C Brennan; Enrico Cagliero; Rodolfo Alejandro; Edmond A Ryan; Barbara DiMercurio; Philippe Morel; Kenneth S Polonsky; Jo-Anna Reems; Reinhard G Bretzel; Federico Bertuzzi; Tatiana Froud; Raja Kandaswamy; David E R Sutherland; George Eisenbarth; Miriam Segal; Jutta Preiksaitis; Gregory S Korbutt; Franca B Barton; Lisa Viviano; Vicki Seyfert-Margolis; Jeffrey Bluestone; Jonathan R T Lakey
Journal:  N Engl J Med       Date:  2006-09-28       Impact factor: 91.245

Review 4.  Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism--pathogenesis, diagnosis and treatment.

Authors:  Ulrich Boehm; Pierre-Marc Bouloux; Mehul T Dattani; Nicolas de Roux; Catherine Dodé; Leo Dunkel; Andrew A Dwyer; Paolo Giacobini; Jean-Pierre Hardelin; Anders Juul; Mohamad Maghnie; Nelly Pitteloud; Vincent Prevot; Taneli Raivio; Manuel Tena-Sempere; Richard Quinton; Jacques Young
Journal:  Nat Rev Endocrinol       Date:  2015-07-21       Impact factor: 43.330

5.  Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation.

Authors:  Giampaolo Trivellin; Adrian F Daly; Fabio R Faucz; Bo Yuan; Liliya Rostomyan; Darwin O Larco; Marie Helene Schernthaner-Reiter; Eva Szarek; Letícia F Leal; Jean-Hubert Caberg; Emilie Castermans; Chiara Villa; Aggeliki Dimopoulos; Prashant Chittiboina; Paraskevi Xekouki; Nalini Shah; Daniel Metzger; Philippe A Lysy; Emanuele Ferrante; Natalia Strebkova; Nadia Mazerkina; Maria Chiara Zatelli; Maya Lodish; Anelia Horvath; Rodrigo Bertollo de Alexandre; Allison D Manning; Isaac Levy; Margaret F Keil; Maria de la Luz Sierra; Leonor Palmeira; Wouter Coppieters; Michel Georges; Luciana A Naves; Mauricette Jamar; Vincent Bours; T John Wu; Catherine S Choong; Jerome Bertherat; Philippe Chanson; Peter Kamenický; William E Farrell; Anne Barlier; Martha Quezado; Ivana Bjelobaba; Stanko S Stojilkovic; Jurgen Wess; Stefano Costanzi; Pengfei Liu; James R Lupski; Albert Beckers; Constantine A Stratakis
Journal:  N Engl J Med       Date:  2014-12-03       Impact factor: 91.245

6.  Manual closed-loop insulin delivery in children and adolescents with type 1 diabetes: a phase 2 randomised crossover trial.

Authors:  Roman Hovorka; Janet M Allen; Daniela Elleri; Ludovic J Chassin; Julie Harris; Dongyuan Xing; Craig Kollman; Tomas Hovorka; Anne Mette F Larsen; Marianna Nodale; Alessandra De Palma; Malgorzata E Wilinska; Carlo L Acerini; David B Dunger
Journal:  Lancet       Date:  2010-02-04       Impact factor: 79.321

7.  Central precocious puberty caused by mutations in the imprinted gene MKRN3.

Authors:  Ana Paula Abreu; Andrew Dauber; Delanie B Macedo; Sekoni D Noel; Vinicius N Brito; John C Gill; Priscilla Cukier; Iain R Thompson; Victor M Navarro; Priscila C Gagliardi; Tânia Rodrigues; Cristiane Kochi; Carlos Alberto Longui; Dominique Beckers; Francis de Zegher; Luciana R Montenegro; Berenice B Mendonca; Rona S Carroll; Joel N Hirschhorn; Ana Claudia Latronico; Ursula B Kaiser
Journal:  N Engl J Med       Date:  2013-06-05       Impact factor: 91.245

8.  A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity.

Authors:  Timothy M Frayling; Nicholas J Timpson; Michael N Weedon; Eleftheria Zeggini; Rachel M Freathy; Cecilia M Lindgren; John R B Perry; Katherine S Elliott; Hana Lango; Nigel W Rayner; Beverley Shields; Lorna W Harries; Jeffrey C Barrett; Sian Ellard; Christopher J Groves; Bridget Knight; Ann-Marie Patch; Andrew R Ness; Shah Ebrahim; Debbie A Lawlor; Susan M Ring; Yoav Ben-Shlomo; Marjo-Riitta Jarvelin; Ulla Sovio; Amanda J Bennett; David Melzer; Luigi Ferrucci; Ruth J F Loos; Inês Barroso; Nicholas J Wareham; Fredrik Karpe; Katharine R Owen; Lon R Cardon; Mark Walker; Graham A Hitman; Colin N A Palmer; Alex S F Doney; Andrew D Morris; George Davey Smith; Andrew T Hattersley; Mark I McCarthy
Journal:  Science       Date:  2007-04-12       Impact factor: 47.728

9.  A mutation in the thyroid hormone receptor alpha gene.

Authors:  Elena Bochukova; Nadia Schoenmakers; Maura Agostini; Erik Schoenmakers; Odelia Rajanayagam; Julia M Keogh; Elana Henning; Jana Reinemund; Evelien Gevers; Margarita Sarri; Kate Downes; Amaka Offiah; Assunta Albanese; David Halsall; John W R Schwabe; Murray Bain; Keith Lindley; Francesco Muntoni; Faraneh Vargha-Khadem; Faraneh Vargha Khadem; Mehul Dattani; I Sadaf Farooqi; Mark Gurnell; Krishna Chatterjee
Journal:  N Engl J Med       Date:  2011-12-14       Impact factor: 91.245

10.  KSR2 mutations are associated with obesity, insulin resistance, and impaired cellular fuel oxidation.

Authors:  Laura R Pearce; Neli Atanassova; Matthew C Banton; Bill Bottomley; Agatha A van der Klaauw; Jean-Pierre Revelli; Audrey Hendricks; Julia M Keogh; Elana Henning; Deon Doree; Sabrina Jeter-Jones; Sumedha Garg; Elena G Bochukova; Rebecca Bounds; Sofie Ashford; Emma Gayton; Peter C Hindmarsh; Julian P H Shield; Elizabeth Crowne; David Barford; Nick J Wareham; Stephen O'Rahilly; Michael P Murphy; David R Powell; Ines Barroso; I Sadaf Farooqi
Journal:  Cell       Date:  2013-11-07       Impact factor: 41.582

  10 in total

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