Zellweger syndrome resulting from maternal isodisomy of chromosome 1-Reference-Cited by-同舟云学术

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Zellweger syndrome resulting from maternal isodisomy of chromosome 1

Published:2007 Issue:18 Volume:143A Page:2172-2177
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Turner Claire L.S.,Bunyan David J.,Thomas N. Simon,Mackay Deborah J.G.,Jones Huw P.,Waterham Hans R.,Wanders Ronald J.A.,Temple I. Karen

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference28 articles.

1. Genomewide Scan in Families with Schizophrenia from the Founder Population of Afrikaners Reveals Evidence for Linkage and Uniparental Disomy on Chromosome 1

2. Uniparental isodisomy resulting from 46,XX,i(1p),i(1q) in a woman with short stature, ptosis, micro/retrognathia, myopathy, deafness, and sterility

3. Chediak-Higashi syndrome associated with maternal uniparental isodisomy of chromosome 1

4. A new genetic concept: Uniparental disomy and its potential effect, isodisomy

5. Uniparental disomy, isodisomy, and imprinting: Probable effects in man and strategies for their detection

Cited by 22 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Homozygosity for a Novel DOCK7 Variant Due to Segmental Uniparental Isodisomy of Chromosome 1 Associated with Early Infantile Epileptic Encephalopathy (EIEE) and Cortical Visual Impairment;International Journal of Molecular Sciences;2022-07-02

2. Case Report: Partial Uniparental Disomy Unmasks a Novel Recessive Mutation in the LYST Gene in a Patient With a Severe Phenotype of Chédiak-Higashi Syndrome;Frontiers in Immunology;2021-03-31

3. Case Report: Genetic and Clinical Features of Maternal Uniparental Isodisomy-Induced Thiamine-Responsive Megaloblastic Anemia Syndrome;Frontiers in Pediatrics;2021-03-19

4. Laboratory diagnosis of disorders of peroxisomal biogenesis and function: a technical standard of the American College of Medical Genetics and Genomics (ACMG);Genetics in Medicine;2020-04

5. Uniparental isodisomy of chromosome 1 results in glycogen storage disease type III with profound growth retardation;Molecular Genetics & Genomic Medicine;2019-03-27

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