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Literature DB >> 1613768

Marfan syndrome: a mystery solved.

P Tsipouras¹.

Abstract

Entities: Disease

Mesh：

Substances：

Year: 1992 PMID： 1613768 PMCID： PMC1015842 DOI： 10.1136/jmg.29.2.73

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

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16 in total

1. Marfan syndrome is closely linked to a marker on chromosome 15q1.5----q2.1.

Authors: P Tsipouras; M Sarfarazi; A Devi; B Weiffenbach; M Boxer
Journal: Proc Natl Acad Sci U S A Date: 1991-05-15 Impact factor: 11.205

2. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene.

Authors: H C Dietz; G R Cutting; R E Pyeritz; C L Maslen; L Y Sakai; G M Corson; E G Puffenberger; A Hamosh; E J Nanthakumar; S M Curristin
Journal: Nature Date: 1991-07-25 Impact factor: 49.962

3. Partial sequence of a candidate gene for the Marfan syndrome.

Authors: C L Maslen; G M Corson; B K Maddox; R W Glanville; L Y Sakai
Journal: Nature Date: 1991-07-25 Impact factor: 49.962

4. Immunohistologic abnormalities of the microfibrillar-fiber system in the Marfan syndrome.

Authors: D W Hollister; M Godfrey; L Y Sakai; R E Pyeritz
Journal: N Engl J Med Date: 1990-07-19 Impact factor: 91.245

5. Connective tissue microfibrils. Isolation and characterization of three large pepsin-resistant domains of fibrillin.

Authors: B K Maddox; L Y Sakai; D R Keene; R W Glanville
Journal: J Biol Chem Date: 1989-12-15 Impact factor: 5.157

6. Life expectancy and causes of death in the Marfan syndrome.

Authors: J L Murdoch; B A Walker; B L Halpern; J W Kuzma; V A McKusick
Journal: N Engl J Med Date: 1972-04-13 Impact factor: 91.245

7. The Marfan syndrome locus: confirmation of assignment to chromosome 15 and identification of tightly linked markers at 15q15-q21.3.

Authors: H C Dietz; R E Pyeritz; B D Hall; R G Cadle; A Hamosh; J Schwartz; D A Meyers; C A Francomano
Journal: Genomics Date: 1991-02 Impact factor: 5.736

Marfan syndrome: a mystery solved.

1. Marfan syndrome is closely linked to a marker on chromosome 15q1.5----q2.1.

2. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene.

3. Partial sequence of a candidate gene for the Marfan syndrome.

4. Immunohistologic abnormalities of the microfibrillar-fiber system in the Marfan syndrome.

5. Connective tissue microfibrils. Isolation and characterization of three large pepsin-resistant domains of fibrillin.

6. Life expectancy and causes of death in the Marfan syndrome.

7. The Marfan syndrome locus: confirmation of assignment to chromosome 15 and identification of tightly linked markers at 15q15-q21.3.

8. Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes.

9. The protein components of the 12-nanometer microfibrils of elastic and nonelastic tissues.

10. Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils.

1. Multiple gastrointestinal complications in Marfan syndrome.