Literature DB >> 8088846

Characterization of a de novo 43-bp deletion of the Gs alpha gene (GNAS1) in Albright hereditary osteodystrophy.

M E Luttikhuis1, L C Wilson, J V Leonard, R C Trembath.   

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Year:  1994        PMID： 8088846     DOI： 10.1006/geno.1994.1297

Source DB:  PubMed          Journal:  Genomics        ISSN： 0888-7543            Impact factor:   5.736


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  10 in total

1.  RDCI, the vasoactive intestinal peptide receptor: a candidate gene for the features of Albright hereditary osteodystrophy associated with deletion of 2q37.

Authors:  M M Power; R S James; J C Barber; A M Fisher; P J Wood; B A Leatherdale; D E Flanagan; E Hatchwell
Journal:  J Med Genet       Date:  1997-04       Impact factor: 6.318

2.  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

3.  Parental origin of Gs alpha gene mutations in Albright's hereditary osteodystrophy.

Authors:  L C Wilson; M E Oude Luttikhuis; P T Clayton; W D Fraser; R C Trembath
Journal:  J Med Genet       Date:  1994-11       Impact factor: 6.318

Review 4.  Albright's hereditary osteodystrophy.

Authors:  L C Wilson; R C Trembath
Journal:  J Med Genet       Date:  1994-10       Impact factor: 6.318

5.  A 4-base pair deletion mutation of Gs alpha gene in a Japanese patient with pseudohypoparathyroidism.

Authors:  M Yokoyama; K Takeda; K Iyota; T Okabayashi; K Hashimoto
Journal:  J Endocrinol Invest       Date:  1996-04       Impact factor: 4.256

6.  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

7.  Pseudohypoparathyroidism type Ia: two new heterozygous frameshift mutations in exons 5 and 10 of the Gs alpha gene.

Authors:  H Shapira; M Mouallem; M S Shapiro; Y Weisman; Z Farfel
Journal:  Hum Genet       Date:  1996-01       Impact factor: 4.132

8.  Brachydactyly and mental retardation: an Albright hereditary osteodystrophy-like syndrome localized to 2q37.

Authors:  L C Wilson; K Leverton; M E Oude Luttikhuis; C A Oley; J Flint; J Wolstenholme; D P Duckett; M A Barrow; J V Leonard; A P Read
Journal:  Am J Hum Genet       Date:  1995-02       Impact factor: 11.025

9.  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

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
  10 in total

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