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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Rare Diseases

Last data update: Sep 8, 2024. (Total: 231257Documents)
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Records 1 - 5 (of 5 Records)

Query Trace: Craniorachischisis[original query]
Mutations in planar cell polarity gene SCRIB are associated with spina bifida.
PloS one 2013 8 (7): e69262.
Lei Yunping, Zhu Huiping, Duhon Cody, Yang Wei, Ross M Elizabeth, Shaw Gary M, Finnell Richard
Rare missense variants in DVL1, one of the human counterparts of the Drosophila dishevelled gene, do not confer increased risk for neural tube defects.
Birth defects research. Part A, Clinical and molecular teratology 2013 Jul 97 (7): 452-5.
Merello Elisa, Kibar Zoha, Allache Redouane, Piatelli Gianluca, Cama Armando, Capra Valeria, De Marco Patriz
Role of the planar cell polarity gene Protein tyrosine kinase 7 in neural tube defects in humans.
Birth defects research. Part A, Clinical and molecular teratology 2015 Sep .
Wang Mingqin, De Marco Patrizia, Merello Elisa, Drapeau Pierre, Capra Valeria, Kibar Zo
A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephaly.
Clinical genetics 2017 12 93 (4): 870-879.
Ishida M, Cullup T, Boustred C, James C, Docker J, English C, , Lench N, Copp A J, Moore G E, Greene N D E, Stanier
Variants identified in PTK7 associated with neural tube defects.
Molecular genetics & genomic medicine 2019 Jan e584.
Lei Yunping, Kim Sung-Eun, Chen Zhongzhong, Cao Xuanye, Zhu Huiping, Yang Wei, Shaw Gary M, Zheng Yufang, Zhang Ting, Wang Hong-Yan, Finnell Richard
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