Literature DB >> 20596088

Complete paternal isodisomy of chromosome 17 in junctional epidermolysis bullosa with pyloric atresia.

Ken Natsuga, Wataru Nishie, Ken Arita, Satoru Shinkuma, Hideki Nakamura, Shogo Kubota, Sumihisa Imakado, Masashi Akiyama, Hiroshi Shimizu.   

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Year:  2010        PMID： 20596088     DOI： 10.1038/jid.2010.182

Source DB:  PubMed          Journal:  J Invest Dermatol        ISSN： 0022-202X            Impact factor:   8.551


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  4 in total

Review 1.  The genetics of human skin disease.

Authors:  Gina M DeStefano; Angela M Christiano
Journal:  Cold Spring Harb Perspect Med       Date:  2014-10-01       Impact factor: 6.915

2.  First case report of complete paternal isodisomy of chromosome 10 harbouring a novel variant in COL17A1 that causes junctional epidermolysis bullosa intermediate.

Authors:  Yao Wang; Dong Yu; Wei Wei; Hao Zheng; Ming-Hua Liu; Long Ma; Li-Na Qin; Neng-Zhuang Wang; Jia-Xi Li; Jin-Jiang Wang; Xin-Ling Bi; Hong-Li Yan
Journal:  BMC Med Genomics       Date:  2022-06-18       Impact factor: 3.622

Review 3.  Maternal uniparental isodisomy causing autosomal recessive GM1 gangliosidosis: a clinical report.

Authors:  Jessica E King; Amy Dexter; Inder Gadi; Val Zvereff; Meaghan Martin; Miriam Bloom; Adeline Vanderver; Amy Pizzino; Johanna L Schmidt
Journal:  J Genet Couns       Date:  2014-04-30       Impact factor: 2.537

4.  Identification of the first congenital ichthyosis case caused by a homozygous deletion in the ALOX12B gene due to chromosome 17 mixed uniparental disomy.

Authors:  Lei Zhang; Yanqiu Hu; Jingjing Lu; Peiwei Zhao; Xiankai Zhang; Li Tan; Jun Li; Cuiping Xiao; Linkong Zeng; Xuelian He
Journal:  Front Genet       Date:  2022-08-08       Impact factor: 4.772
  4 in total

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