Monosomy 1p36 – A multifaceted and still enigmatic syndrome: Four clinically diverse cases with shared white matter abnormalities-Reference-Cited by-同舟云学术

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Monosomy 1p36 – A multifaceted and still enigmatic syndrome: Four clinically diverse cases with shared white matter abnormalities

Published:2014-05 Issue:3 Volume:18 Page:338-346
ISSN:1090-3798
Container-title:European Journal of Paediatric Neurology
language:en
Short-container-title:European Journal of Paediatric Neurology

Author:

Õiglane-Shlik Eve,Puusepp Sanna,Talvik Inga,Vaher Ulvi,Rein Reet,Tammur Pille,Reimand Tiia,Teek Rita,Žilina Olga,Tomberg Tiiu,Õunap Katrin

Funder

Estonian Science Foundation

Publisher

Elsevier BV

Subject

Neurology (clinical),General Medicine,Pediatrics, Perinatology and Child Health

Reference38 articles.

1. Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome;Shapira;Am J Hum Genet,1997

2. Population data suggest that deletions of 1p36 are a relatively common chromosome abnormality;Heilstedt;Clin Genet,2003

3. Monosomy 1p36;Slavotinek;J Med Genet,1999

4. Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome;Heilstedt;Am J Hum Genet,2003

5. Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation;Battaglia;Pediatrics,2008

Cited by 8 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. Research Article Genotypic and phenotypic relationship between Prader-Willi and Prader-Willi-Like syndromes;Genetics and Molecular Research;2023

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

3. Phenotypic and Molecular Cytogenetic Analysis of a Case of Monosomy 1p36 Syndrome due to Unbalanced Translocation;Molecular Syndromology;2020

4. 1p36 deletion syndrome: first case report in Morocco detected by fluorescence in situ hybridization (FISH): a case report;Pan African Medical Journal;2020

5. Brain white matter abnormalities associated with copy number variants;American Journal of Medical Genetics Part A;2019-10-17

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