Pure 21q22.3 deletion identified in a patient with mild phenotypic features-Reference-Cited by-同舟云学术

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Pure 21q22.3 deletion identified in a patient with mild phenotypic features

Published:2018-02-01 Issue:5 Volume:58 Page:178-180
ISSN:0914-3505
Container-title:Congenital Anomalies
language:en
Short-container-title:Congenit Anom

Author:

Sgardioli Ilária Cristina¹,Copelli Matheus de Melo¹,Lustosa-Mendes Elaine¹,Vieira Társis Paiva¹,Gil-da-Silva-Lopes Vera Lúcia¹^ORCID

Affiliation:

1. Department of Medical Genetics, Faculty of Medical Sciences; State University of Campinas; Campinas Brazil

Funder

State of São Paulo Research Foundation - Fapesp

National Council for Scientific and Technological Development - CNPq

Publisher

Wiley

Subject

Developmental Biology,Embryology,General Medicine,Pediatrics, Perinatology and Child Health

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cga.12270/fullpdf

Reference6 articles.

1. Arginine methyltransferases mediate an epigenetic ovarian response to endometriosis;Baumann;Reproduction,2015

2. Modeling the monosomy for the telomeric part of human chromosome 21 reveals haploinsufficient genes modulating the inflammatory and airway responses;Besson;Hum Mol Genet,2007

3. De novo mutations in SIK1 cause a spectrum of developmental epilepsies;Hansen;Am J Hum Genet,2015

4. Double deletion of a chromosome 21 inserted in a chromosome 22 in an azoospermic patient;Marquet;Clin Case Rep,2015

5. Epilepsy-causing sequence variations in SIK1 disrupt synaptic activity response gene expression and affect neuronal morphology;Proschel;Eur J Hum Genet,2017

Cited by 3 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. A de novo pure 21q22.3 deletion in a 9-year-old boy with buried penis: a case report and literature review;Translational Pediatrics;2021-10

2. Genotype-Phenotype Analysis of 8q24.3 Duplication and 21q22.3 Deletion in a Chinese Patient and Literature Review;Public Health Genomics;2021

3. Brazil's Craniofacial Project: Different approaches on orofacial clefts and 22q11.2 deletion syndrome;American Journal of Medical Genetics Part C: Seminars in Medical Genetics;2020-11-09

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