Early detection of Angelman syndrome resulting from de novo paternal isodisomic 15q UPD and review of comparable cases-Reference-Cited by-同舟云学术

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Early detection of Angelman syndrome resulting from de novo paternal isodisomic 15q UPD and review of comparable cases

Published:2013 Issue:1 Volume:6 Page:35
ISSN:1755-8166
Container-title:Molecular Cytogenetics
language:en
Short-container-title:Mol Cytogenet

Author:

Horváth Emese,Horváth Zsuzsanna,Isaszegi Dóra,Gergev Gyurgyinka,Nagy Nikoletta,Szabó János,Sztriha László,Széll Márta,Endreffy Emőke

Publisher

Springer Science and Business Media LLC

Subject

Biochemistry (medical),Genetics (clinical),Genetics,Molecular Biology,Molecular Medicine,Biochemistry

Reference14 articles.

1. Angelman syndrome: a review of the clinical and genetic aspects

2. Severe phenotype in Angelman syndrome resulting from paternal isochromosome 15

3. Angelman syndrome: Mutations influence features in early childhood

4. Robertsonian Translocations: Mechanisms of Formation, Aneuploidy, and Uniparental Disomy and Diagnostic Considerations

5. Paternal uniparental disomy in a child with a balanced 15;15 translocation and Angelman syndrome

Cited by 9 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. Case Report: An Atypical Angelman Syndrome Case With Obesity and Fulfilled Autism Spectrum Disorder Identified by Microarray;Frontiers in Genetics;2021-09-22

2. Imprinted genes in clinical exome sequencing: Review of 538 cases and exploration of mouse-human conservation in the identification of novel human disease loci;European Journal of Medical Genetics;2020-06

3. Clinical epigenetics: a primer for the practitioner;Developmental Medicine & Child Neurology;2019-11-20

4. Whole exome sequencing and methylation‑specific multiplex ligation‑dependent probe amplification applied to identify Angelman syndrome due to paternal uniparental disomy in two unrelated patients;Molecular Medicine Reports;2019-06-05

5. Atypical Angelman syndrome due to a mosaic imprinting defect: Case reports and review of the literature;American Journal of Medical Genetics Part A;2017-02-17

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