22q and two: 22q11.2 deletion syndrome and coexisting conditions-Reference-Cited by-同舟云学术

22q and two: 22q11.2 deletion syndrome and coexisting conditions

Published:2018-09-23 Issue:10 Volume:176 Page:2203-2214
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Cohen Jennifer L.¹²^ORCID,Crowley Terrence B.¹^ORCID,McGinn Daniel E.¹,McDougall Carey¹,Unolt Marta¹³,Lambert Michele P.¹²^ORCID,Emanuel Beverly S.¹²,Zackai Elaine H.¹²,McDonald-McGinn Donna M.¹²

Affiliation:

1. The Children's Hospital of Philadelphia; Philadelphia Pennsylvania

2. Perelman School of Medicine at the University of Pennsylvania; Philadelphia Pennsylvania

3. Department of Pediatrics and Pediatric Neuropsychiatry; “Sapienza” University of Rome and Ospedale Bambino Gesu; Rome Italy

Funder

CYTOGENETIC AND MOLECULAR STUDIES OF CHROMOSOME 22

GENETIC MODIFIERS FOR 22Q 11.2 DELETION SYNDROME

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.40494/fullpdf

Reference62 articles.

1. Practical guidelines for managing patients with 22q11.2 deletion syndrome;Bassett;The Journal of Pediatrics,2011

2. Unmasking of a Recessive SCARF2 Mutation by a 22q11.12 de novo Deletion in a Patient with Van den Ende-Gupta Syndrome;Bedeschi;Molecular Syndromology,2010

3. Clinical phenotype of the recurrent 1q21.1 copy-number variant;Bernier;Genetics in Medicine,2016

4. A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population;Botto;Pediatrics,2003

5. When one diagnosis is not enough;Boycott;The New England Journal of Medicine,2017

Cited by 33 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. Multicenter appraisal of comorbid TANGO2 deficiency disorder in patients with 22q11.2 deletion syndrome;American Journal of Medical Genetics Part A;2024-06-03

2. Variants in Candidate Genes for Phenotype Heterogeneity in Patients with the 22q11.2 Deletion Syndrome;Genetics Research;2024-03-30

3. Understanding the Variability of 22q11.2 Deletion Syndrome: The Role of Epigenetic Factors;Genes;2024-02-29

4. Untargeted metabolomic, and proteomic analysis identifies metabolic biomarkers and pathway alterations in individuals with 22q11.2 deletion syndrome;Metabolomics;2024-02-28

5. Hematologic and Immunologic Cases: Recurrent Infections in Childhood;Genomics in the Clinic;2024