Literature DB >> 2879657

Marfan syndrome: exclusion of genetic linkage to the COL1A2 gene.

P Tsipouras, A L Børresen, S Bamforth, P S Harper, K Berg.   

Abstract

Marfan Syndrome is a genetic disorder of the connective tissue. Individuals from one large family with this disorder were genotyped for COL1A2 gene associated RFLPs. Our results demonstrated that the COL1A2 gene, encoding the proa2(I) collagen chain, segregated independently of the phenotype and it is therefore excluded as the mutant locus in this family.

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Mesh：

Year:  1986        PMID： 2879657

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  17 in total

1.  Marfan syndrome: defective synthesis, secretion, and extracellular matrix formation of fibrillin by cultured dermal fibroblasts.

Authors:  D M Milewicz; R E Pyeritz; E S Crawford; P H Byers
Journal:  J Clin Invest       Date:  1992-01       Impact factor: 14.808

2.  Marfan syndrome: no evidence for heterogeneity in different populations, and more precise mapping of the gene.

Authors:  K Kainulainen; B Steinmann; F Collins; H C Dietz; C A Francomano; A Child; M W Kilpatrick; D J Brock; M Keston; R E Pyeritz
Journal:  Am J Hum Genet       Date:  1991-09       Impact factor: 11.025

3.  Linkage data for Marfan syndrome and markers on chromosomes 1 and 11.

Authors:  J de Groote; P A Farndon; M V Kilpatrick; A de Paepe; J W Oorthuys; N C Nevin; A H Child; F M Pope
Journal:  J Med Genet       Date:  1990-02       Impact factor: 6.318

4.  Linkage analysis in Marfan syndrome.

Authors:  R C Schwartz; S H Blanton; C A Hyde; T R Sottile; L Hudgins; M Sarfarazi; P Tsipouras
Journal:  J Med Genet       Date:  1990-02       Impact factor: 6.318

5.  Linkage analysis of five fibrillar collagen loci in a large French Marfan syndrome family.

Authors:  C Boileau; G Jondeau; C Bonaiti; M Coulon; G Delorme; O Dubourg; J P Bourdarias; C Junien
Journal:  J Med Genet       Date:  1990-02       Impact factor: 6.318

Review 6.  Marfan syndrome.

Authors:  J R Gray; S J Davies
Journal:  J Med Genet       Date:  1996-05       Impact factor: 6.318

7.  Marfan syndrome: light at the end of the tunnel?

Authors:  P Tsipouras
Journal:  Am J Hum Genet       Date:  1990-04       Impact factor: 11.025

8.  An exclusion map of Marfan syndrome.

Authors:  S H Blanton; M Sarfarazi; H Eiberg; J de Groote; P A Farndon; M W Kilpatrick; A H Child; F M Pope; L Peltonen; C A Francomano
Journal:  J Med Genet       Date:  1990-02       Impact factor: 6.318

9.  Marfan syndrome: absence of type I or III collagen structural defects in 25 patients.

Authors:  V R Harley; D Chan; J G Rogers; W G Cole
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

Review 10.  Diagnosis of genetic disease using recombinant DNA. Supplement.

Authors:  D N Cooper; J Schmidtke
Journal:  Hum Genet       Date:  1987-09       Impact factor: 4.132
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