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Literature DB >> 10521288

Toward an understanding of the cause of mitral valve prolapse.

J A Towbin.

Abstract

Entities: Disease

Mesh：

Year: 1999 PMID： 10521288 PMCID： PMC1288275 DOI： 10.1086/302635

Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025

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45 in total

1. Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II.

Authors: A De Paepe; L Nuytinck; I Hausser; I Anton-Lamprecht; J M Naeyaert
Journal: Am J Hum Genet Date: 1997-03 Impact factor: 11.025

2. The frequency of familial dilated cardiomyopathy in a series of patients with idiopathic dilated cardiomyopathy.

Authors: V V Michels; P P Moll; F A Miller; A J Tajik; J S Chu; D J Driscoll; J C Burnett; R J Rodeheffer; J H Chesebro; H D Tazelaar
Journal: N Engl J Med Date: 1992-01-09 Impact factor: 91.245

Review 3. Hypertrophic cardiomyopathy.

Authors: B J Maron
Journal: Lancet Date: 1997-07-12 Impact factor: 79.321

4. Abnormalities in elastic fibers and other connective-tissue components of floppy mitral valve.

Authors: K Tamura; Y Fukuda; M Ishizaki; Y Masuda; N Yamanaka; V J Ferrans
Journal: Am Heart J Date: 1995-06 Impact factor: 4.749

Review 5. Ascending aortic aneurysm with or without features of Marfan syndrome and other fibrillinopathies: new insights.

Authors: H Furthmayr; U Francke
Journal: Semin Thorac Cardiovasc Surg Date: 1997-07

6. Mutations of the alpha2(V) chain of type V collagen impair matrix assembly and produce ehlers-danlos syndrome type I.

Authors: K Michalickova; M Susic; M C Willing; R J Wenstrup; W G Cole
Journal: Hum Mol Genet Date: 1998-02 Impact factor: 6.150

7. Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere.

Authors: L Thierfelder; H Watkins; C MacRae; R Lamas; W McKenna; H P Vosberg; J G Seidman; C E Seidman
Journal: Cell Date: 1994-06-03 Impact factor: 41.582

4. Successful reconstructive surgery for isolated mitral insufficiency associated with Williams syndrome: report of a case.

Authors: Koji Takeda; Goro Matsumiya; Keiji Iwata; Yoshiki Sawa
Journal: Surg Today Date: 2007-03-09 Impact factor: 2.549

4 in total

Toward an understanding of the cause of mitral valve prolapse.

1. Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II.

2. The frequency of familial dilated cardiomyopathy in a series of patients with idiopathic dilated cardiomyopathy.

Review 3. Hypertrophic cardiomyopathy.

4. Abnormalities in elastic fibers and other connective-tissue components of floppy mitral valve.

Review 5. Ascending aortic aneurysm with or without features of Marfan syndrome and other fibrillinopathies: new insights.

6. Mutations of the alpha2(V) chain of type V collagen impair matrix assembly and produce ehlers-danlos syndrome type I.

7. Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere.

8. Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome.

9. Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome.

10. Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly.

Review 1. The impairment of lysyl oxidase in keratoconus and in keratoconus-associated disorders.

2. Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy.

Review 3. Filamin-a-related myxomatous mitral valve dystrophy: genetic, echocardiographic and functional aspects.

4. Successful reconstructive surgery for isolated mitral insufficiency associated with Williams syndrome: report of a case.