Literature DB >> 7230200

EDS IV (acrogeria): new autosomal dominant and recessive types.

F M Pope, A C Nicholls, P M Jones, R S Wells, D Lawrence.   

Abstract

Evidence is presented that type IV of the Ehlers-Danlos syndrome (EDS IV) is genetically variable. A benign autosomal dominant form and two autosomal recessive variants are described with clinical and biochemical features that are distinct from classical acrogeria.

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Year:  1980        PMID： 7230200      PMCID： PMC1437515     

Source DB:  PubMed          Journal:  J R Soc Med        ISSN： 0141-0768            Impact factor:   5.344


  14 in total

1.  Inheritance of Ehlers-Danlos type IV syndrome.

Authors:  F M Pope; G R Martin; V A McKusick
Journal:  J Med Genet       Date:  1977-06       Impact factor: 6.318

2.  Lysyl oxidase deficiency in Ehlers-Danlos syndrome type V.

Authors:  N Di Ferrante; R D Leachman; P Angelini; P V Donnelly; G Francis; A Almazan
Journal:  Connect Tissue Res       Date:  1975       Impact factor: 3.417

3.  Isolation and characterization of a collagen from chick cartilage containing three identical alpha chains.

Authors:  E J Miller
Journal:  Biochemistry       Date:  1971-04-27       Impact factor: 3.162

4.  Defect in conversion of procollagen to collagen in a form of Ehlers-Danlos syndrome.

Authors:  J R Lichtenstein; G R Martin; L D Kohn; P H Byers; V A McKusick
Journal:  Science       Date:  1973-10-19       Impact factor: 47.728

5.  Cleavage of structural proteins during the assembly of the head of bacteriophage T4.

Authors:  U K Laemmli
Journal:  Nature       Date:  1970-08-15       Impact factor: 49.962

6.  Variants of the Ehlers-Danlos syndrome. Clinical, biochemical, haematological, and chromosomal features of 100 patients.

Authors:  P Beighton; A Price; J Lord; E Dickson
Journal:  Ann Rheum Dis       Date:  1969-05       Impact factor: 19.103

7.  Heterogeneity of the Ehlers-Danlos syndrome: description of three clinical types and a hypothesis to explain the basic defect(s).

Authors:  A P Barabas
Journal:  Br Med J       Date:  1967-06-03

8.  Clinical and ultrastructural heterogeneity of type IV Ehlers-Danlos syndrome.

Authors:  P H Byers; K A Holbrook; B McGillivray; P M MacLeod; R B Lowry
Journal:  Hum Genet       Date:  1979-03-12       Impact factor: 4.132

9.  Simultaneous synthesis of types I and III collagen by fibroblasts in culture.

Authors:  S Gay; G R Martin; P K Muller; R Timpl; K Kuhn
Journal:  Proc Natl Acad Sci U S A       Date:  1976-11       Impact factor: 11.205

10.  Patients with Ehlers-Danlos syndrome type IV lack type III collagen.

Authors:  F M Pope; G R Martin; J R Lichtenstein; R Penttinen; B Gerson; D W Rowe; V A McKusick
Journal:  Proc Natl Acad Sci U S A       Date:  1975-04       Impact factor: 11.205
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  12 in total

Review 1.  Spontaneous common iliac arteries rupture in Ehlers-Danlos syndrome type IV: report of two cases and review of the literature.

Authors:  K Habib; M A Memon; D A Reid; B J Fairbrother
Journal:  Ann R Coll Surg Engl       Date:  2001-03       Impact factor: 1.891

Review 2.  Prenatal diagnosis and prevention of inherited abnormalities of collagen.

Authors:  F M Pope; S C Daw; P Narcisi; A R Richards; A C Nicholls
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

3.  Fatal splenic rupture in Ehlers-Danlos syndrome.

Authors:  S C Harris; D N Slater; C A Austin
Journal:  Postgrad Med J       Date:  1985-03       Impact factor: 2.401

4.  Molecular abnormalities of collagen in human disease.

Authors:  F M Pope; A C Nicholls
Journal:  Arch Dis Child       Date:  1987-05       Impact factor: 3.791

Review 5.  Molecular abnormalities of collagen: a review.

Authors:  F M Pope; A C Nicholls; J Dorling; J Webb
Journal:  J R Soc Med       Date:  1983-12       Impact factor: 5.344

6.  Type III collagen deficiency with normal phenotype.

Authors:  F M Pope; A H Child; A C Nicholls; P Narcisi; D E Dorrance
Journal:  J R Soc Med       Date:  1983-06       Impact factor: 5.344

7.  Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV.

Authors:  U Schwarze; W I Schievink; E Petty; M R Jaff; D Babovic-Vuksanovic; K J Cherry; M Pepin; P H Byers
Journal:  Am J Hum Genet       Date:  2001-09-27       Impact factor: 11.025

8.  Molecular defects of type III procollagen in Ehlers-Danlos syndrome type IV.

Authors:  A Superti-Furga; B Steinmann; F Ramirez; P H Byers
Journal:  Hum Genet       Date:  1989-05       Impact factor: 4.132

9.  Ehlers-Danlos syndrome type IV: phenotypic consequences of a splicing mutation in one COL3A1 allele.

Authors:  D O Sillence; A A Chiodo; P E Campbell; W G Cole
Journal:  J Med Genet       Date:  1991-12       Impact factor: 6.318

10.  [Rare syndromes in intensive care medicine : Presentation of two cases].

Authors:  A Gierlinger; P Siostrzonek; J Reisinger
Journal:  Med Klin Intensivmed Notfmed       Date:  2016-06-03       Impact factor: 0.840
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