TheFBN2gene: new mutations, locus-specific database (Universal Mutation DatabaseFBN2), and genotype-phenotype correlations-Reference-Cited by-同舟云学术

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TheFBN2gene: new mutations, locus-specific database (Universal Mutation DatabaseFBN2), and genotype-phenotype correlations

Published:2008-09-02 Issue:2 Volume:30 Page:181-190
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Frédéric Melissa Yana,Monino Christine,Marschall Christoph,Hamroun Dalil,Faivre Laurence,Jondeau Guillaume,Klein Hanns-Georg,Neumann Luitgard,Gautier Elodie,Binquet Christine,Maslen Cheryl,Godfrey Maurice,Gupta Prateek,Milewicz Dianna,Boileau Catherine,Claustres Mireille,Béroud Christophe,Collod-Béroud Gwenaëlle

Funder

Université Montpellier 1

INSERM

GIS-Institut des Maladies Rares 2004

Association Française contre les Myopathies (AFM)

Agence Nationale pour la Recherche (ANR)

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.20794/fullpdf

Reference76 articles.

1. Ectopia lentis phenotypes and the FBN1 gene;Ades;Am J Med Genet A,2004

2. A single mutation that results in an Asp to His substitution and partial exon skipping in a family with congenital contractural arachnodactyly;Babcock;Hum Genet,1998

3. Analysis of the human gene encoding latent transforming growth factor-beta-binding protein-2;Bashir;Int J Biochem Cell Biol,1996

4. Congenital contractural arachnodactyly. A heritable disorder of connective tissue;Beals;J Bone Joint Surg,1971

5. Two novel fibrillin-2 mutations in congenital contractural arachnodactyly;Belleh;Am J Med Genet,2000

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1. Missense variants of FBN2 associated with congenital arachnodactyly in three Chinese families;Molecular Genetics and Metabolism Reports;2024-12

2. Properties of Alzheimer’s disease brain-derived tau aggregates define tau processing by human astrocytes;2024-09-05

3. High-Throughput Genomics Identify Novel FBN1/2 Variants in Severe Neonatal Marfan Syndrome and Congenital Heart Defects;International Journal of Molecular Sciences;2024-05-17

4. FBN2 pathogenic variants in congenital contractural arachnodactyly with severe cardiovascular manifestations;Connective Tissue Research;2024-04-11

5. HOTAIR/miR-1277-5p/FBN2 signaling axis is involved in recurrent spontaneous abortion by regulating the growth, migration, and invasion of HTR-8/SVneo cells;Biology of Reproduction;2024-02-24

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