Maternal Uniparental Disomy 14 Syndrome Demonstrates Prader-Willi Syndrome-Like Phenotype-Reference-Cited by-同舟云学术

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Maternal Uniparental Disomy 14 Syndrome Demonstrates Prader-Willi Syndrome-Like Phenotype

Published:2009-12 Issue:6 Volume:155 Page:900-903.e1
ISSN:0022-3476
Container-title:The Journal of Pediatrics
language:en
Short-container-title:The Journal of Pediatrics

Author:

Hosoki Kana,Kagami Masayo,Tanaka Touju,Kubota Masaya,Kurosawa Kenji,Kato Mitsuhiro,Uetake Kimiaki,Tohyama Jun,Ogata Tsutomu,Saitoh Shinji

Publisher

Elsevier BV

Subject

Pediatrics, Perinatology and Child Health

Reference12 articles.

1. Uniparental disomy (UPD) other than 15: phenotypes and bibliography updated;Kotzot;Am J Med Genet A,2005

2. Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes;Kagami;Nat Genet,2008

3. Epimutation (hypomethylation) affecting the chromosome 14q32.2 imprinted region in a girl with upd(14)mat-like phenotype;Hosoki;Eur J Hum Genet,2008

4. Clinical features of maternal uniparental disomy 14 in patients with an epimutation and a deletion of the imprinted DLK1/GTL2 gene cluster;Buiting;Hum Mutat,2008

5. Maternal uniparental disomy for chromosome 14;Temple;J Med Genet,1991

Cited by 45 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. Recommendations for the diagnosis and management of childhood Prader-Willi syndrome in China;Orphanet Journal of Rare Diseases;2022-06-13

2. Transmission of a Novel Imprinting Center Deletion Associated With Prader–Willi Syndrome Through Three Generations of a Chinese Family: Case Presentation, Differential Diagnosis, and a Lesson Worth Thinking About;Frontiers in Genetics;2021-08-24

3. Epigenetics in Prader-Willi Syndrome;Frontiers in Genetics;2021-02-15

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

5. 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

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