A novel 5q11.2 microdeletion in a child with mild developmental delay and dysmorphic features-Reference-Cited by-同舟云学术

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A novel 5q11.2 microdeletion in a child with mild developmental delay and dysmorphic features

Published:2016-07-04 Issue:9 Volume:170 Page:2445-2448
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Fontana Paolo¹,Tortora Cristina¹,Petillo Roberta²,Falco Mariateresa¹,Miniero Martina¹,De Brasi Davide³,Pisanti Maria Antonietta³

Affiliation:

1. Department of Molecular Medicine and Medical Biotechnologies; Federico II University of Naples; Naples Italy

2. Department of Experimental Medicine; Cardiomiology and Medical Genetics; Second University of Naples; Naples Italy

3. Service of Medical Genetics; Cardarelli Hospital; Naples Italy

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference7 articles.

1. 5q11.2 deletion in a patient with tracheal agenesis;de Jong;Eur J Hum Genet,2010

2. The murine G+C-rich promoter binding protein mGPBP is required for promoter-specific transcription;Hsu;Mol Cell Biol,2003

3. A novel 5q11.2 deletion detected by microarray comparative genomic hybridisation in a child referred as a case of suspected 22q11 deletion syndrome;Prescott;Hum Genet,2005

4. SLC38A9 is a component of the lysosomal amino acid sensing machinery that controls mTORC1;Rebsamen;Nature,2015

5. Novel microdeletion syndromes detected by chromosome microarrays;Slavotinek;Hum Genet,2008

Cited by 4 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. 5q11.2 deletion syndrome revisited—Further narrowing of the smallest region of overlap for the main clinical characteristics of the syndrome;American Journal of Medical Genetics Part A;2021-07-28

2. Clinical characterization of chromosome 5q21.1–21.3 microduplication: A case report;Open Medicine;2020-11-09

3. A Child with 5q Deletion and Accompanying Chiari 1 Malformation;The Indian Journal of Pediatrics;2020-07-16

4. Extending the Phenotype and Identification of a Novel Candidate Gene for Immunodeficiency in 5q11 Microdeletion Syndrome;Molecular Syndromology;2018

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