Literature DB >> 11293637

Genetic developments in hypoparathyroidism.

R V Thakker1.   

Abstract

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Year:  2001        PMID： 11293637     DOI： 10.1016/s0140-6736(00)04254-9

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


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  11 in total

1.  Hypoparathyroidism in the adult: epidemiology, diagnosis, pathophysiology, target-organ involvement, treatment, and challenges for future research.

Authors:  John P Bilezikian; Aliya Khan; John T Potts; Maria Luisa Brandi; Bart L Clarke; Dolores Shoback; Harald Jüppner; Pierre D'Amour; John Fox; Lars Rejnmark; Leif Mosekilde; Mishaela R Rubin; David Dempster; Rachel Gafni; Michael T Collins; Jim Sliney; James Sanders
Journal:  J Bone Miner Res       Date:  2011-10       Impact factor: 6.741

2.  Identification and characterization of C106R, a novel mutation in the DNA-binding domain of GCMB, in a family with autosomal-dominant hypoparathyroidism.

Authors:  Hyon-Seung Yi; Young Sil Eom; Ie Byung Park; Sangho Lee; Suntaek Hong; Harald Jüppner; Michael Mannstadt; Sihoon Lee
Journal:  Clin Endocrinol (Oxf)       Date:  2012-05       Impact factor: 3.478

3.  Gcm2 is required for the differentiation and survival of parathyroid precursor cells in the parathyroid/thymus primordia.

Authors:  Zhijie Liu; Shannon Yu; Nancy R Manley
Journal:  Dev Biol       Date:  2007-02-21       Impact factor: 3.582

4.  Dominant-negative GCMB mutations cause an autosomal dominant form of hypoparathyroidism.

Authors:  Michael Mannstadt; Guylène Bertrand; Mihaela Muresan; Georges Weryha; Bruno Leheup; Sirish R Pulusani; Bernard Grandchamp; Harald Jüppner; Caroline Silve
Journal:  J Clin Endocrinol Metab       Date:  2008-06-26       Impact factor: 5.958

5.  Long-term follow-up of patients with hypoparathyroidism.

Authors:  Deborah M Mitchell; Susan Regan; Michael R Cooley; Kelly B Lauter; Michael C Vrla; Carolyn B Becker; Sherri-Ann M Burnett-Bowie; Michael Mannstadt
Journal:  J Clin Endocrinol Metab       Date:  2012-10-05       Impact factor: 5.958

6.  Mutational analysis of the adaptor protein 2 sigma subunit (AP2S1) gene: search for autosomal dominant hypocalcemia type 3 (ADH3).

Authors:  Angela Rogers; M Andrew Nesbit; Fadil M Hannan; Sarah A Howles; Caroline M Gorvin; Treena Cranston; Jeremy Allgrove; John S Bevan; Gul Bano; Caroline Brain; Vipan Datta; Ashley B Grossman; Shirley V Hodgson; Louise Izatt; Lynne Millar-Jones; Simon H Pearce; Lisa Robertson; Peter L Selby; Brian Shine; Katie Snape; Justin Warner; Rajesh V Thakker
Journal:  J Clin Endocrinol Metab       Date:  2014-04-07       Impact factor: 5.958

7.  Thymus-associated parathyroid hormone has two cellular origins with distinct endocrine and immunological functions.

Authors:  Zhijie Liu; Alison Farley; Lizhen Chen; Beth J Kirby; Christopher S Kovacs; C Clare Blackburn; Nancy R Manley
Journal:  PLoS Genet       Date:  2010-12-23       Impact factor: 5.917

8.  A Neonatal Case of Autosomal Dominant Hypoparathyroidism without Mutation of the CASR Gene.

Authors:  Ichiro Miyata; Hideki Yoshikawa; Naokiyo Kurokawa; Kei-Ichi Kanno; Yoshihiro Hayashi; Yoshikatsu Eto
Journal:  Clin Pediatr Endocrinol       Date:  2008-02-14

9.  Genetic and clinical characteristics of korean patients with isolated hypoparathyroidism: from the Korean hypopara registry study.

Authors:  So Young Park; Young Sil Eom; Byoungho Choi; Hyon-Seung Yi; Seung-Hee Yu; Kiyoung Lee; Hyun-Seok Jin; Yoon-Sok Chung; Tae Sik Jung; Sihoon Lee
Journal:  J Korean Med Sci       Date:  2013-09-25       Impact factor: 2.153

Review 10.  Therapy of hypoparathyroidism by replacement with parathyroid hormone.

Authors:  Lars Rejnmark; Line Underbjerg; Tanja Sikjaer
Journal:  Scientifica (Cairo)       Date:  2014-07-01
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