Results 171 to 180 of about 2,855 (182)

Thoracic Aortic Disease in Patients With Heterozygous Variants Outside the Central Region of FBN2

Circulation: Genomic and Precision Medicine
BACKGROUND: Heterozygous pathogenic variants in the central region (exon 23–34) of FBN2 cause a hereditary connective tissue disorder named congenital contractural arachnodactyly, which presents with obligatory skeletal features but rarely with vascular manifestations.
Till Joscha Demal, Marco Sachse, Celia Metzlaff, Helke Schüler, Katalin Szöcs, Jakob Olfe, Veronika Stark, Peter Frommolt, Yskert von Kodolitsch, Thomas S. Mir, Meike Rybczynski, Hermann Reichenspurner, Kerstin Kutsche, Christian Kubisch, Christian Detter, Georg Rosenberger   +15 more
openaire   +2 more sources

FBN2 methylation is detected in the serum of colorectal cancer patients with hepatic metastasis.

Anticancer research, 2013
For the purpose of colorectal cancer detection, we investigated fibrillin-2 (FBN2) methylation in the serum of colorectal cancer patients using quantitative methylation-specific polymerase chain reaction (qMSP).Out of 78 patients with colorectal cancer, 49 (63%) exhibited methylation of FBN2 in their tumor tissue DNA, suggesting that FBN2 methylation ...
Kenji, Hibi, Hiroki, Mizukami, Mitsuo, Saito, Gaku, Kigawa, Hiroshi, Nemoto, Yutaka, Sanada   +5 more
openaire   +1 more source

[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

A novel FBN2 mutation in a Turkish case with congenital contractural arachnodactyly

Clinical Dysmorphology, 2018
Abdullah I, Gürler, Zafer, Yüksel, Kadri, Karaer   +2 more
openaire   +2 more sources

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

American Journal of Medical Genetics, Part A, 2007
Shiro Ikegawa
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

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

Human Mutation, 2009
Catherine Boileau, Hamroun Dalîl, Dianna Milewicz   +2 more
exaly  

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
Dianna Milewicz, David Chitayat
exaly