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Items: 1 to 20 of 415

1.

Partial COL1A2 gene duplication produces features of osteogenesis imperfecta and Ehlers-Danlos syndrome type VII.

Raff ML, Craigen WJ, Smith LT, Keene DR, Byers PH.

Hum Genet. 2000 Jan;106(1):19-28.

PMID:
10982177
2.

Y-position cysteine substitution in type I collagen (alpha1(I) R888C/p.R1066C) is associated with osteogenesis imperfecta/Ehlers-Danlos syndrome phenotype.

Cabral WA, Makareeva E, Letocha AD, Scribanu N, Fertala A, Steplewski A, Keene DR, Persikov AV, Leikin S, Marini JC.

Hum Mutat. 2007 Apr;28(4):396-405.

PMID:
17206620
4.

Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood.

Malfait F, Symoens S, De Backer J, Hermanns-Lê T, Sakalihasan N, Lapière CM, Coucke P, De Paepe A.

Hum Mutat. 2007 Apr;28(4):387-95.

PMID:
17211858
6.

Inherited disorders of collagen gene structure and expression.

Byers PH.

Am J Med Genet. 1989 Sep;34(1):72-80. Review.

PMID:
2683783
8.
9.

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.

11.

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.

12.

Cysteine in the triple-helical domain of one allelic product of the alpha 1(I) gene of type I collagen produces a lethal form of osteogenesis imperfecta.

Steinmann B, Rao VH, Vogel A, Bruckner P, Gitzelmann R, Byers PH.

J Biol Chem. 1984 Sep 10;259(17):11129-38.

13.

Identification of a mutation that causes exon skipping during collagen pre-mRNA splicing in an Ehlers-Danlos syndrome variant.

Weil D, Bernard M, Combates N, Wirtz MK, Hollister DW, Steinmann B, Ramirez F.

J Biol Chem. 1988 Jun 25;263(18):8561-4.

14.

Mutations in type I collagen genes resulting in osteogenesis imperfecta in humans.

Gajko-Galicka A.

Acta Biochim Pol. 2002;49(2):433-41. Review.

15.

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
17.

A 9-base pair deletion in COL1A1 in a lethal variant of osteogenesis imperfecta.

Hawkins JR, Superti-Furga A, Steinmann B, Dalgleish R.

J Biol Chem. 1991 Nov 25;266(33):22370-4.

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