Is there a higher incidence of maternal uniparental disomy 14 [upd(14)mat]? Detection of 10 new patients by methylation-specific PCR-Reference-Cited by-同舟云学术

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Is there a higher incidence of maternal uniparental disomy 14 [upd(14)mat]? Detection of 10 new patients by methylation-specific PCR

Published:2006 Issue:19 Volume:140A Page:2039-2049
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Mitter Diana,Buiting Karin,von Eggeling Ferdinand,Kuechler Alma,Liehr Thomas,Mau-Holzmann Ulrike Angelika,Prott Eva-Christina,Wieczorek Dagmar,Gillessen-Kaesbach Gabriele

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference54 articles.

1. Two cases of maternal uniparental disomy 14 with a phenotype overlapping with the Prader-Willi phenotype

2. Maternal Uniparental Disomy for Chromosome 14

Cited by 66 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. Temple Syndrome: Clinical Findings, Body Composition and Cognition in 15 Patients;Journal of Clinical Medicine;2022-10-25

2. The Spectrum of the Prader–Willi-like Pheno- and Genotype: A Review of the Literature;Endocrine Reviews;2021-08-30

3. UPD(14)mat and UPD(14)mat in concomitance with mosaic small supernumerary marker chromosome 14 in two new patients with Temple syndrome;European Journal of Medical Genetics;2021-05

4. Temple syndrome resulting from uniparental disomy is undiagnosed by a methylation assay due to low‐level mosaicism for trisomy 14;American Journal of Medical Genetics Part A;2021-02-17

5. Molecular characterization of temple syndrome families with 14q32 epimutations;European Journal of Medical Genetics;2020-12

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