Literature DB >> 1969489

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

J de Groote1, P A Farndon, M V Kilpatrick, A de Paepe, J W Oorthuys, N C Nevin, A H Child, F M Pope.   

Abstract

Six large families with classical Marfan syndrome were studied using markers on chromosomes 1 and 11. Two of three families tested showed negative scores using D1S7 but a third family gave a positive score (0.92) at theta = 0.1. The other chromosome 1 markers typed (MUCI, NGFB, D1S8) excluded close linkage. Negative lod scores with two chromosome 11q22 markers (D11S84, D11S148) excluded at least 20 cM in this area (Z = less than -2), which was chosen for study as two enzymes responsible for collagen degradation (collagenase and stromelysin) are localised to this region.

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Year:  1990        PMID： 1969489      PMCID： PMC1016925          DOI： 10.1136/jmg.27.2.82

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  13 in total

1.  A suggestion of linkage between the Marfan syndrome and the rhesus blood group.

Authors:  M Mace
Journal:  Clin Genet       Date:  1979-08       Impact factor: 4.438

2.  Letter: Collagen of Marfan syndrome is abnormally soluble.

Authors:  R E Priest; J F Moinuddin; J H Priest
Journal:  Nature       Date:  1973-10-05       Impact factor: 49.962

3.  Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies.

Authors:  J Ott
Journal:  Am J Hum Genet       Date:  1974-09       Impact factor: 11.025

4.  Clinical variability in the Marfan syndrome(s).

Authors:  R E Pyeritz; E A Murphy; V A McKusick
Journal:  Birth Defects Orig Artic Ser       Date:  1979

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

Authors:  P Tsipouras; A L Børresen; S Bamforth; P S Harper; K Berg
Journal:  Clin Genet       Date:  1986-11       Impact factor: 4.438

6.  The Marfan syndrome: a deficiency in chemically stable collagen cross-links.

Authors:  R J Boucek; N L Noble; Z Gunja-Smith; W T Butler
Journal:  N Engl J Med       Date:  1981-10-22       Impact factor: 91.245

7.  Marfan syndrome: abnormal alpha 2 chain in type I collagen.

Authors:  P H Byers; R C Siegel; K E Peterson; D W Rowe; K A Holbrook; L T Smith; Y H Chang; J C Fu
Journal:  Proc Natl Acad Sci U S A       Date:  1981-12       Impact factor: 11.205

8.  Exclusion of the alpha 2(I) and alpha 1(III) collagen genes as the mutant loci in a Marfan syndrome family.

Authors:  R Dalgleish; J R Hawkins; M Keston
Journal:  J Med Genet       Date:  1987-03       Impact factor: 6.318

9.  Surgical treatment of aneurysms of the ascending aorta in the Marfan syndrome. Results of composite-graft repair in 50 patients.

Authors:  V L Gott; R E Pyeritz; G J Magovern; D E Cameron; V A McKusick
Journal:  N Engl J Med       Date:  1986-04-24       Impact factor: 91.245

10.  Cell-free synthesis of hyaluronic acid in Marfan syndrome.

Authors:  A Appel; A L Horwitz; A Dorfman
Journal:  J Biol Chem       Date:  1979-12-10       Impact factor: 5.157
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  2 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.  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
  2 in total

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