Delineating the phenotype of 1p36 deletion in adolescents and adults-Reference-Cited by-同舟云学术

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Delineating the phenotype of 1p36 deletion in adolescents and adults

Published:2014-07-08 Issue:10 Volume:164 Page:2496-2503
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Brazil Ashley¹²,Stanford Kevin²,Smolarek Teresa¹²,Hopkin Robert¹²

Affiliation:

1. University of Cincinnati; Cincinnati Ohio

2. Cincinnati Children's Hospital Medical Center; Cincinnati Ohio

Funder

1p36 Deletion Support and Awareness Group

UNIQUE

Chromosome Disorder Outreach, Inc

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36657/fullpdf

Reference31 articles.

1. 2014 When Is Puberty Too Early?” Duke http://www.dukemedicine.org/blog/when-puberty-too-early

2. Fine mapping of the 1p36 deletion syndrome identifies mutation of Prdm16 as a cause of cardiomyopathy;Arndt;Am J Hum Genet,2013

3. Spectrum of epilepsy in terminal 1p36 deletion syndrome;Bahi-Buisson;Epilepsia,2008

4. Battaglia A 2008 1p36 deletion syndrome.” NCBI http://www.ncbi.nlm.nih.gov/books/NBK1191/

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

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2. Epileptic encephalopathy caused by 1p36 deletion: literature review and case series;Russian Journal of Child Neurology;2022-09-13

3. Connecting human voice profiling to genomics: A predictive algorithm for linking speech phenotypes to genetic microdeletion syndromes;2022-05-24

4. Differences and Commonalities in Children with Childhood Apraxia of Speech and Comorbid Neurodevelopmental Disorders: A Multidimensional Perspective;Journal of Personalized Medicine;2022-02-19

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