Literature DB >> 8595432

A deletion hot-spot in exon 7 of the Gs alpha gene (GNAS1) in patients with Albright hereditary osteodystrophy.

S Yu1, D Yu, B E Hainline, J L Brener, K A Wilson, L C Wilson, M E Oude-Luttikhuis, R C Trembath, L S Weinstein.   

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Year:  1995        PMID： 8595432     DOI： 10.1093/hmg/4.10.2001

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


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  11 in total

Review 1.  Clinical spectrum and pathogenesis of pseudohypoparathyroidism.

Authors:  M A Levine
Journal:  Rev Endocr Metab Disord       Date:  2000-11       Impact factor: 6.514

Review 2.  Genetics of endocrine and metabolic disorders: parathyroid.

Authors:  R V Thakker
Journal:  Rev Endocr Metab Disord       Date:  2004-03       Impact factor: 6.514

3.  Analysis of GNAS1 and overlapping transcripts identifies the parental origin of mutations in patients with sporadic Albright hereditary osteodystrophy and reveals a model system in which to observe the effects of splicing mutations on translated and untranslated messenger RNA.

Authors:  Sarah J Rickard; Louise C Wilson
Journal:  Am J Hum Genet       Date:  2003-03-06       Impact factor: 11.025

Review 4.  Pseudohypoparathyroidism: one gene, several syndromes.

Authors:  O Tafaj; H Jüppner
Journal:  J Endocrinol Invest       Date:  2016-12-19       Impact factor: 4.256

5.  Isolated autosomal dominant type E brachydactyly: exclusion of linkage to candidate regions 2q37 and 20q13.

Authors:  M E Oude Luttikhuis; D K Williams; R C Trembath
Journal:  J Med Genet       Date:  1996-10       Impact factor: 6.318

6.  Identification of a novel GNAS mutation for pseudohypoparathyroidism in a Chinese family.

Authors:  Li-Hao Sun; Bin Cui; Hong-Yan Zhao; Bei Tao; Wei-Qing Wang; Xiao-Ying Li; Guang Ning; Jian-Min Liu
Journal:  Endocrine       Date:  2009-04-21       Impact factor: 3.633

7.  Diagnostic and mutational spectrum of progressive osseous heteroplasia (POH) and other forms of GNAS-based heterotopic ossification.

Authors:  N S Adegbite; M Xu; F S Kaplan; E M Shore; R J Pignolo
Journal:  Am J Med Genet A       Date:  2008-07-15       Impact factor: 2.802

8.  Neuroblastomas with chromosome 11q loss and single copy MYCN comprise a biologically distinct group of tumours with adverse prognosis.

Authors:  M E Luttikhuis; J E Powell; S A Rees; T Genus; S Chughtai; P Ramani; J R Mann; C M McConville
Journal:  Br J Cancer       Date:  2001-08-17       Impact factor: 7.640

Review 9.  GNAS mutations in Pseudohypoparathyroidism type 1a and related disorders.

Authors:  Manuel C Lemos; Rajesh V Thakker
Journal:  Hum Mutat       Date:  2014-11-28       Impact factor: 4.878

Review 10.  Progressive osseous heteroplasia: diagnosis, treatment, and prognosis.

Authors:  Robert J Pignolo; Girish Ramaswamy; John T Fong; Eileen M Shore; Frederick S Kaplan
Journal:  Appl Clin Genet       Date:  2015-01-30
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