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Literature DB >> 12161601

Twelve novel FBN1 mutations in Marfan syndrome and Marfan related phenotypes test the feasibility of FBN1 mutation testing in clinical practice.

D J Halliday, S Hutchinson, L Lonie, J A Hurst, H Firth, P A Handford, P Wordsworth.

Abstract

Entities: Disease Gene Mutation

Mesh：

Substances：

Year: 2002 PMID： 12161601 PMCID： PMC1735209 DOI： 10.1136/jmg.39.8.589

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

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13 in total

1. Postmortem genetic testing should be recommended in sudden cardiac death cases due to thoracic aortic dissection.

Authors: Marina Gago-Díaz; Eva Ramos-Luis; Silvia Zoppis; Esther Zorio; Pilar Molina; Aitana Braza-Boïls; Juan Giner; Beatriz Sobrino; Jorge Amigo; Alejandro Blanco-Verea; Ángel Carracedo; María Brion
Journal: Int J Legal Med Date: 2017-04-08 Impact factor: 2.686

Review 2. Recent progress in genetics of Marfan syndrome and Marfan-associated disorders.

Authors: Takeshi Mizuguchi; Naomichi Matsumoto
Journal: J Hum Genet Date: 2006-10-24 Impact factor: 3.172

Review 3. The molecular genetics of Marfan syndrome and related disorders.

Authors: P N Robinson; E Arteaga-Solis; C Baldock; G Collod-Béroud; P Booms; A De Paepe; H C Dietz; G Guo; P A Handford; D P Judge; C M Kielty; B Loeys; D M Milewicz; A Ney; F Ramirez; D P Reinhardt; K Tiedemann; P Whiteman; M Godfrey
Journal: J Med Genet Date: 2006-03-29 Impact factor: 6.318

4. Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene.

Authors: Chantal Stheneur; Gwenaëlle Collod-Béroud; Laurence Faivre; Jean François Buyck; Laurent Gouya; Jean-Marie Le Parc; Bertrand Moura; Christine Muti; Bernard Grandchamp; Gilles Sultan; Mireille Claustres; Philippe Aegerter; Bertrand Chevallier; Guillaume Jondeau; Catherine Boileau
Journal: Eur J Hum Genet Date: 2009-03-18 Impact factor: 4.246

10. C-terminal propeptide is required for fibrillin-1 secretion and blocks premature assembly through linkage to domains cbEGF41-43.

Authors: Sacha A Jensen; Georgia Aspinall; Penny A Handford
Journal: Proc Natl Acad Sci U S A Date: 2014-06-30 Impact factor: 11.205

Twelve novel FBN1 mutations in Marfan syndrome and Marfan related phenotypes test the feasibility of FBN1 mutation testing in clinical practice.

1. Postmortem genetic testing should be recommended in sudden cardiac death cases due to thoracic aortic dissection.

Review 2. Recent progress in genetics of Marfan syndrome and Marfan-associated disorders.

Review 3. The molecular genetics of Marfan syndrome and related disorders.

4. Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene.

5. Two novel mutations of FBN1 in Jordanian patients with Marfan syndrome.

6. The genetics and genomics of thoracic aortic disease.

7. Increased frequency of FBN1 truncating and splicing variants in Marfan syndrome patients with aortic events.

8. Identification and study of a FBN1 gene mutation in a Chinese family with ectopia lentis.

9. Two novel FBN1 mutations associated with ectopia lentis and marfanoid habitus in two Chinese families.

10. C-terminal propeptide is required for fibrillin-1 secretion and blocks premature assembly through linkage to domains cbEGF41-43.