Literature DB >> 25994769

Maternal uniparental isodisomy (iUPD) of chromosome 4 in a subject with mild intellectual disability and speech delay.

Pietro Palumbo1, Orazio Palumbo1, Maria Pia Leone1, Raffaella Stallone1, Teresa Palladino1, Leopoldo Zelante1, Massimo Carella1.   

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Year:  2015        PMID: 25994769     DOI: 10.1002/ajmg.a.37142

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


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  2 in total

1.  Investigation of Chromosomal Structural Abnormalities in Patients With Undiagnosed Neurodevelopmental Disorders.

Authors:  Ye Cao; Ho Ming Luk; Yanyan Zhang; Matthew Hoi Kin Chau; Shuwen Xue; Shirley S W Cheng; Albert Martin Li; Josephine S C Chong; Tak Yeung Leung; Zirui Dong; Kwong Wai Choy; Ivan Fai Man Lo
Journal:  Front Genet       Date:  2022-04-14       Impact factor: 4.772

2.  Prenatal diagnosis of complete maternal uniparental isodisomy of chromosome 4 in a fetus without congenital abnormality or inherited disease-associated variations.

Authors:  WeiQiang Liu; HuiMin Zhang; Jian Wang; GuoJiu Yu; WenJun Qiu; ZhiHua Li; Min Chen; Kwong Wai Choy; XiaoFang Sun
Journal:  Mol Cytogenet       Date:  2015-11-04       Impact factor: 2.009

  2 in total

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