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Literature DB >> 8733052

Marfan syndrome.

J R Gray¹, S J Davies.

Abstract

Entities: Disease

Mesh：

Year: 1996 PMID： 8733052 PMCID： PMC1050611 DOI： 10.1136/jmg.33.5.403

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

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36 in total

Review 1. Clinical manifestations of the Marfan syndrome.

Authors: P R Cohen; P Schneiderman
Journal: Int J Dermatol Date: 1989-06 Impact factor: 2.736

2. 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

3. Purification and partial characterization of fibrillin, a cysteine-rich structural component of connective tissue microfibrils.

Authors: L Y Sakai; D R Keene; R W Glanville; H P Bächinger
Journal: J Biol Chem Date: 1991-08-05 Impact factor: 5.157

4. Progression of aortic dilatation and the benefit of long-term beta-adrenergic blockade in Marfan's syndrome.

Authors: J Shores; K R Berger; E A Murphy; R E Pyeritz
Journal: N Engl J Med Date: 1994-05-12 Impact factor: 91.245

5. Pneumothorax in the Marfan syndrome: prevalence and therapy.

Authors: J R Hall; R E Pyeritz; D L Dudgeon; J A Haller
Journal: Ann Thorac Surg Date: 1984-06 Impact factor: 4.330

6. Histopathology of striae distensae, with special reference to striae and wound healing in the Marfan syndrome.

Authors: H Pinkus; M K Keech; A H Mehregan
Journal: J Invest Dermatol Date: 1966-03 Impact factor: 8.551

7. Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome.

Authors: H C Dietz; I McIntosh; L Y Sakai; G M Corson; S C Chalberg; R E Pyeritz; C A Francomano
Journal: Genomics Date: 1993-08 Impact factor: 5.736

8. Life expectancy in the Marfan syndrome.

Authors: D I Silverman; K J Burton; J Gray; M S Bosner; N T Kouchoukos; M J Roman; M Boxer; R B Devereux; P Tsipouras
Journal: Am J Cardiol Date: 1995-01-15 Impact factor: 2.778

9. Carpal ligamentous laxity with bilateral perilunate dislocation in Marfan syndrome.

Authors: D R Pennes; E M Braunstein; K K Shirazi
Journal: Skeletal Radiol Date: 1985 Impact factor: 2.199

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

Authors: L Y Sakai; D R Keene; E Engvall
Journal: J Cell Biol Date: 1986-12 Impact factor: 10.539

13 in total

Review 1. The molecular genetics of Marfan syndrome and related microfibrillopathies.

Authors: P N Robinson; M Godfrey
Journal: J Med Genet Date: 2000-01 Impact factor: 6.318

2. Intrinsic cardiomyopathy in Marfan syndrome: results from in-vivo and ex-vivo studies of the Fbn1C1039G/+ model and longitudinal findings in humans.

Authors: Laurence Campens; Marjolijn Renard; Bram Trachet; Patrick Segers; Laura Muino Mosquera; Johan De Sutter; Lynn Sakai; Anne De Paepe; Julie De Backer
Journal: Pediatr Res Date: 2015-06-04 Impact factor: 3.756

Marfan syndrome.

Review 1. Clinical manifestations of the Marfan syndrome.

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

3. Purification and partial characterization of fibrillin, a cysteine-rich structural component of connective tissue microfibrils.

4. Progression of aortic dilatation and the benefit of long-term beta-adrenergic blockade in Marfan's syndrome.

5. Pneumothorax in the Marfan syndrome: prevalence and therapy.

6. Histopathology of striae distensae, with special reference to striae and wound healing in the Marfan syndrome.

7. Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome.

8. Life expectancy in the Marfan syndrome.

9. Carpal ligamentous laxity with bilateral perilunate dislocation in Marfan syndrome.

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

Review 1. The molecular genetics of Marfan syndrome and related microfibrillopathies.

2. Intrinsic cardiomyopathy in Marfan syndrome: results from in-vivo and ex-vivo studies of the Fbn1C1039G/+ model and longitudinal findings in humans.

3. Marfan syndrome.

4. Marfan syndrome.

5. Further delineation of Nevo syndrome.

6. Preimplantation genetic diagnosis of human embryos for Marfan's syndrome.

7. Anesthetic management of a child with both Marfan syndrome and Turner syndrome.

Review 8. Clinical and Molecular genetics of Stickler syndrome.

9. Skeletal dysplasias associated with mild myopathy-a clinical and molecular review.

10. Dysfunction of endothelial and smooth muscle cells in small arteries of a mouse model of Marfan syndrome.