Literature DB >> 3076851

Type III collagen mutations in Ehlers Danlos syndrome type IV and other related disorders.

F M Pope, A C Nicholls, P Narcisi, A Temple, Y Chia, P Fryer, A De Paepe, W P De Groote, J R McEwan, D A Compston.   

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Year:  1988        PMID： 3076851     DOI： 10.1111/j.1365-2230.1988.tb00709.x

Source DB:  PubMed          Journal:  Clin Exp Dermatol        ISSN： 0307-6938            Impact factor:   3.470


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  15 in total

Review 1.  Joint hypermobility and genetic collagen disorders: are they related?

Authors:  R Grahame
Journal:  Arch Dis Child       Date:  1999-02       Impact factor: 3.791

2.  Exon 47 skipping of fibrillin-1 leads preferentially to cardiovascular defects in patients with thoracic aortic aneurysms and dissections.

Authors:  Wen-Jing Wang; Peili Han; Jun Zheng; Fang-Yuan Hu; Yun Zhu; Jin-Sheng Xie; Jian Guo; Zhe Zhang; Jie Dong; Gu-Yan Zheng; Huiqing Cao; Tian-Shu Liu; Qinglin Fu; Lizhong Sun; Bi-Bo Yang; Xiao-Li Tian
Journal:  J Mol Med (Berl)       Date:  2012-07-08       Impact factor: 4.599

Review 3.  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

4.  Abnormal type III collagen produced by an exon-17-skipping mutation of the COL3A1 gene in Ehlers-Danlos syndrome type IV is not incorporated into the extracellular matrix.

Authors:  A A Chiodo; D O Sillence; W G Cole; J F Bateman
Journal:  Biochem J       Date:  1995-11-01       Impact factor: 3.857

5.  Spontaneous rupture of the femoral arteries.

Authors:  M A Cadier; G Watkin; F M Pope; A Marston
Journal:  J R Soc Med       Date:  1993-01       Impact factor: 5.344

6.  Detection and characterisation of an overmodified type III collagen by analysis of non-cutaneous connective tissues in a patient with Ehlers-Danlos syndrome IV.

Authors:  L Nuytinck; P Narcisi; A Nicholls; J P Renard; F M Pope; A De Paepe
Journal:  J Med Genet       Date:  1992-06       Impact factor: 6.318

Review 7.  Vascular type Ehlers-Danlos Syndrome with fatal spontaneous rupture of a right common iliac artery dissection: case report and review of literature.

Authors:  Aly Abayazeed; Emily Hayman; Mana Moghadamfalahi; Darren Cain
Journal:  J Radiol Case Rep       Date:  2014-02-01

8.  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

9.  Cerebrovascular Involvement in Ehlers-Danlos Syndrome.

Authors:  Wouter I. Schievink
Journal:  Curr Treat Options Cardiovasc Med       Date:  2004-06

10.  Parental somatic and germ-line mosaicism for a multiexon deletion with unusual endpoints in a type III collagen (COL3A1) allele produces Ehlers-Danlos syndrome type IV in the heterozygous offspring.

Authors:  D M Milewicz; A M Witz; A C Smith; D K Manchester; G Waldstein; P H Byers
Journal:  Am J Hum Genet       Date:  1993-07       Impact factor: 11.025
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