Genetic testing of the FBN1 gene in Chinese patients with Marfan/Marfan-like syndrome-Reference-Cited by-同舟云学术

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Genetic testing of the FBN1 gene in Chinese patients with Marfan/Marfan-like syndrome

Published:2016-08 Issue: Volume:459 Page:30-35
ISSN:0009-8981
Container-title:Clinica Chimica Acta
language:en
Short-container-title:Clinica Chimica Acta

Author:

Yang Hang,Luo Mingyao,Chen Qianlong,Fu Yuanyuan,Zhang Jing,Qian Xiangyang,Sun Xiaogang,Fan Yuxin,Zhou Zhou,Chang Qian

Funder

China 1000 Young Talents Program

Youth Foundation of Fuwai Hospital, National Center for Cardiovascular Disease, China

Publisher

Elsevier BV

Subject

Biochemistry (medical),Clinical Biochemistry,Biochemistry,General Medicine

Reference23 articles.

1. Marfan's syndrome;Judge;Lancet,2005

2. Life expectancy in the Marfan syndrome;Silverman;Am. J. Cardiol.,1995

3. Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders;Dietz;Hum. Mol. Genet.,1995

4. The revised Ghent nosology for the Marfan syndrome;Loeys;J. Med. Genet.,2010

5. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2;Loeys;Nat. Genet.,2005

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1. Toward Precision Medicine in Aortopathies: Genetic Insights from a Brazilian Cohort Through Targeted Next-Generation Sequencing;2023-12-26

2. Genotype variant screening and phenotypic analysis of FBN1 in Chinese patients with isolated ectopia lentis;Molecular Medicine Reports;2021-02-10

3. Variants of Focal Adhesion Scaffold Genes Cause Thoracic Aortic Aneurysm;Circulation Research;2021-01-08

4. Genotype–Phenotype Correlation in Children: The Impact of FBN1 Variants on Pediatric Marfan Care;Genes;2020-07-15

5. Increased frequency of FBN1 frameshift and nonsense mutations in Marfan syndrome patients with aortic dissection;Molecular Genetics & Genomic Medicine;2019-12-12

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