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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 3 (of 3 Records)

Query Trace: Syndrome and FBN2[original query]
Genetic and gene expression analyses of the polycystic ovary syndrome candidate gene fibrillin-3 and other fibrillin family members in human ovaries.
Molecular human reproduction 2009 Dec 15 (12): 829-41.
Prodoehl Mark J, Hatzirodos Nicholas, Irving-Rodgers Helen F, Zhao Zhen Z, Painter Jodie N, Hickey Theresa E, Gibson Mark A, Rainey William E, Carr Bruce R, Mason Helen D, Norman Robert J, Montgomery Grant W, Rodgers Raymond
Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis.
Human molecular genetics 2014 Oct 23 (19): 5271-82.
Buchan Jillian G, Alvarado David M, Haller Gabe E, Cruchaga Carlos, Harms Matthew B, Zhang Tianxiao, Willing Marcia C, Grange Dorothy K, Braverman Alan C, Miller Nancy H, Morcuende Jose A, Tang Nelson Leung-Sang, Lam Tsz-Ping, Ng Bobby Kin-Wah, Cheng Jack Chun-Yiu, Dobbs Matthew B, Gurnett Christina
Based on a cohort of 52,879 microarrays, recurrent intragenic FBN2 deletion encompassing exons 1-8 does not cause Beals syndrome.
European journal of medical genetics 2020 7 63 (10): 104008.
Maya Idit, Kahana Sarit, Agmon-Fishman Ifaat, Klein Cochava, Matar Reut, Berger Racheli, Shohat Mordechai, Basel-Salmon Lina, Sharony Reuven, Sagi-Dain Le
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