Literature DB >> 7700715

Non-traditional forms of inheritance in skeletal dysplasias.

J G Hall1, E Lopez-Rangel.   

Abstract

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Year:  1994        PMID: 7700715     DOI: 10.1007/bf02011905

Source DB:  PubMed          Journal:  Pediatr Radiol        ISSN: 0301-0449


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  13 in total

1.  The McCune-Albright syndrome. The whys and wherefores of abnormal signal transduction.

Authors:  M A Levine
Journal:  N Engl J Med       Date:  1991-12-12       Impact factor: 91.245

Review 2.  Osteogenesis imperfecta: translation of mutation to phenotype.

Authors:  P H Byers; G A Wallis; M C Willing
Journal:  J Med Genet       Date:  1991-07       Impact factor: 6.318

3.  Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome.

Authors:  W F Schwindinger; C A Francomano; M A Levine
Journal:  Proc Natl Acad Sci U S A       Date:  1992-06-01       Impact factor: 11.205

4.  Isodisomy of chromosome 7 in a patient with cystic fibrosis: could uniparental disomy be common in humans?

Authors:  R Voss; E Ben-Simon; A Avital; S Godfrey; J Zlotogora; J Dagan; Y Tikochinski; J Hillel
Journal:  Am J Hum Genet       Date:  1989-09       Impact factor: 11.025

Review 5.  Mutations in collagen genes: causes of rare and some common diseases in humans.

Authors:  H Kuivaniemi; G Tromp; D J Prockop
Journal:  FASEB J       Date:  1991-04       Impact factor: 5.191

6.  Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion.

Authors:  J H Knoll; R D Nicholls; R E Magenis; J M Graham; M Lalande; S A Latt
Journal:  Am J Med Genet       Date:  1989-02

7.  A new genetic concept: uniparental disomy and its potential effect, isodisomy.

Authors:  E Engel
Journal:  Am J Med Genet       Date:  1980

8.  Activating mutations of the stimulatory G protein in the McCune-Albright syndrome.

Authors:  L S Weinstein; A Shenker; P V Gejman; M J Merino; E Friedman; A M Spiegel
Journal:  N Engl J Med       Date:  1991-12-12       Impact factor: 91.245

9.  G protein Gs alpha (GNAS 1), the probable candidate gene for Albright hereditary osteodystrophy, is assigned to human chromosome 20q12-q13.2.

Authors:  V V Rao; S Schnittger; I Hansmann
Journal:  Genomics       Date:  1991-05       Impact factor: 5.736

10.  Endocrine and molecular biological studies in a German family with Albright hereditary osteodystrophy.

Authors:  V Schuster; T Eschenhagen; K Kruse; P Gierschik; H W Kreth
Journal:  Eur J Pediatr       Date:  1993-03       Impact factor: 3.183

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