Results 171 to 177 of about 2,722 (177)

[Pathological variant of FBN2 gene identified in a pedigree affected with congenital contracture arachnodactyly].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2020
To detect pathological variant in a Chinese pedigree affected with congenital contractural arachnodactyly (CCA).Next generation sequencing (NGS) was used to scan the whole exome of the proband. Potential variant of the FBN2 gene was also detected in all members of the pedigree and 100 healthy controls by Sanger sequencing. With the determination of the
Jieqiong, Wang, Yanjie, Xia, Yanan, Wang, Fan, Yang, Xiangdong, Kong   +4 more
openaire   +1 more source

FBN2,FBN1,TGFBR1, andTGFBR2 analyses in congenital contractural arachnodactyly

American Journal of Medical Genetics, Part A, 2007
Haruya Sakai, Shiro Ikegawa, Fumio Takada   +2 more
exaly  

A novel pathogenic mutation in FBN2 associated with congenital contractural arachnodactyly for preimplantation genetic diagnosis

Journal of Genetics and Genomics, 2020
Jiaxin, Li, Yuqian, Wang, Xiaohui, Zhu, Yanli, Nie, Ying, Kuo, Shuo, Guan, Jin, Huang, Ying, Lian, Yangyu, Zhao, Rong, Li, Yuan, Wei, Jie, Qiao, Liying, Yan   +12 more
openaire   +2 more sources

Genetic linkage analyses of the fibrillin genes, Fbn1 and Fbn2, in the mouse genome

Matrix Biology, 1994
Craig Goldstein, Phillip Liaw, Sergio A. Jimenez, Arthur M. Buchberg, Linda D. Siracusa   +4 more
openaire   +1 more source

Repeat polymorphisms in human fibrillin genes on chromosome 15 (FBN1) and chromosome 5 (FBN2)

Human Molecular Genetics, 1993
A L, Biddinger, J T, Hecht, D M, Milewicz   +2 more
openaire   +2 more sources

Clustering ofFBN2 mutations in patients with congenital contractural arachnodactyly indicates an important role of the domains encoded by exons 24 through 34 during human development

1998
David Chitayat, Anne Child, Dianna M Milewicz   +2 more
exaly  

Therapeutic effects of Mudan granules on diabetic retinopathy: Mitigating fibrogenesis caused by FBN2 deficiency and inflammation associated with TNF-α elevation

Journal of Ethnopharmacology
Pan Long, Chao Guo, Aidong Wen
exaly