Literature DB >> 4420090

Letter: The demise of the Marshall syndrome.

M M Cohen.   

Abstract

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Year:  1974        PMID： 4420090     DOI： 10.1016/s0022-3476(74)80373-2

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


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  7 in total

1.  Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.

Authors:  S Annunen; J Körkkö; M Czarny; M L Warman; H G Brunner; H Kääriäinen; J B Mulliken; L Tranebjaerg; D G Brooks; G F Cox; J R Cruysberg; M A Curtis; S L Davenport; C A Friedrich; I Kaitila; M R Krawczynski; A Latos-Bielenska; S Mukai; B R Olsen; N Shinno; M Somer; M Vikkula; J Zlotogora; D J Prockop; L Ala-Kokko
Journal:  Am J Hum Genet       Date:  1999-10       Impact factor: 11.025

Review 2.  Clinical and Molecular genetics of Stickler syndrome.

Authors:  M P Snead; J R Yates
Journal:  J Med Genet       Date:  1999-05       Impact factor: 6.318

3.  The Marshall and Stickler syndromes: objective rejection of lumping.

Authors:  S Aymé; M Preus
Journal:  J Med Genet       Date:  1984-02       Impact factor: 6.318

4.  Marshall/Stickler syndrome.

Authors:  M Baraitser
Journal:  J Med Genet       Date:  1982-04       Impact factor: 6.318

Review 5.  The Wagner-Stickler syndrome complex.

Authors:  V Godel; P Nemet; M Lazar
Journal:  Doc Ophthalmol       Date:  1981-12-16       Impact factor: 2.379

6.  Marshall syndrome associated with a splicing defect at the COL11A1 locus.

Authors:  A J Griffith; L K Sprunger; D A Sirko-Osadsa; G E Tiller; M H Meisler; M L Warman
Journal:  Am J Hum Genet       Date:  1998-04       Impact factor: 11.025

7.  Significant ophthalmoarthropathy associated with ectodermal dysplasia in a child with Marshall-Stickler overlap: a case report.

Authors:  Ali Al Kaissi; Rudolf Ganger; Klaus Klaushofer; Franz Grill
Journal:  Cases J       Date:  2008-10-24
  7 in total

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