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Items: 1 to 20 of 151

2.

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.

Schwarze U, Schievink WI, Petty E, Jaff MR, Babovic-Vuksanovic D, Cherry KJ, Pepin M, Byers PH.

Am J Hum Genet. 2001 Nov;69(5):989-1001. Epub 2001 Sep 27.

4.

A base substitution at a splice site in the COL3A1 gene causes exon skipping and generates abnormal type III procollagen in a patient with Ehlers-Danlos syndrome type IV.

Cole WG, Chiodo AA, Lamande SR, Janeczko R, Ramirez F, Dahl HH, Chan D, Bateman JF.

J Biol Chem. 1990 Oct 5;265(28):17070-7.

5.

An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome.

Nicholls AC, Oliver JE, McCarron S, Harrison JB, Greenspan DS, Pope FM.

J Med Genet. 1996 Nov;33(11):940-6. Erratum in: J Med Genet 1997 Jan;334(1):87.

6.

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

Sillence DO, Chiodo AA, Campbell PE, Cole WG.

J Med Genet. 1991 Dec;28(12):840-5.

8.
9.

Ehlers-Danlos syndrome type IV with few extrathoracic findings: a newly recognized point mutation in the COL3A1 gene.

Watanabe A, Kawabata Y, Okada O, Tanabe N, Kimura H, Hatamochi A, Shinkai H, Sakai N, Shimada T, Hiroshima K, Kuriyama T.

Eur Respir J. 2002 Jan;19(1):195-8.

13.

Ehlers-Danlos syndrome and type III collagen abnormalities: a variable clinical spectrum.

Hamel BC, Pals G, Engels CH, van den Akker E, Boers GH, van Dongen PW, Steijlen PM.

Clin Genet. 1998 Jun;53(6):440-6.

PMID:
9712532
15.

Mutations near amino end of alpha1(I) collagen cause combined osteogenesis imperfecta/Ehlers-Danlos syndrome by interference with N-propeptide processing.

Cabral WA, Makareeva E, Colige A, Letocha AD, Ty JM, Yeowell HN, Pals G, Leikin S, Marini JC.

J Biol Chem. 2005 May 13;280(19):19259-69. Epub 2005 Feb 22.

16.

Ehlers-Danlos syndrome type IV, vascular type, which demonstrated a novel point mutation in the COL3A1 gene.

Sadakata R, Hatamochi A, Kodama K, Kaga A, Yamaguchi T, Soma T, Usui Y, Nagata M, Ohtake A, Hagiwara K, Kanazawa M.

Intern Med. 2010;49(16):1797-800. Epub 2010 Aug 13.

17.
18.

Ehlers-Danlos syndrome type IV: cosegregation of the phenotype to a COL3A1 allele of type III procollagen.

Tsipouras P, Byers PH, Schwartz RC, Chu ML, Weil D, Pepe G, Cassidy SB, Ramirez F.

Hum Genet. 1986 Sep;74(1):41-6.

PMID:
2875936
19.

Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in the COL1A1 and COL1A2 genes of type I collagen.

Byers PH, Duvic M, Atkinson M, Robinow M, Smith LT, Krane SM, Greally MT, Ludman M, Matalon R, Pauker S, Quanbeck D, Schwarze U.

Am J Med Genet. 1997 Oct 3;72(1):94-105.

PMID:
9295084

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