Results 181 to 189 of about 4,235 (189)

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

Short stature, brachydactyly and joint contractures associated with novel FBN2 variants in two families

Journal of Medical Genetics
Background Fibrillinopathies comprise allelic disorders with opposing phenotypes. Pathogenic variants in fibrillin-2, encoded by FBN2, have mainly been associated with congenital contractural arachnodactyly but in a few cases also with brachydactyly.
Petra Loid, Fan Wang, Otto Lennartsson, Mari Muurinen, Alice Costantini, Sakshi Vats, Maria Lodefalk, Ola Nilsson, Outi Mäkitie   +8 more
openaire   +2 more sources

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

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

Ten novelFBN2mutations in congenital contractural arachnodactyly: Delineation of the molecular pathogenesis and clinical phenotype

Human Mutation, 2002
Susan A Berry, Prateek Gupta, Meow-Keong Thong   +2 more
exaly  

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

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

American Journal of Medical Genetics, Part A, 2007
Shiro Ikegawa, Hirotomo Saitsu, Naomichi Matsumoto   +2 more
exaly  

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, Dianna M Milewicz
exaly  

Synostosis of joints caused by mutant FBN2 is linked to the abnormalities and misdifferentiation of articular surface cells

Genetics in Medicine
Yongjia Yang
exaly