Characteristics of 2p15-p16.1 microdeletion syndrome: Review and description of two additional patients-Reference-Cited by-同舟云学术

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Characteristics of 2p15-p16.1 microdeletion syndrome: Review and description of two additional patients

Published:2015-07-26 Issue:3 Volume:55 Page:125-132
ISSN:0914-3505
Container-title:Congenital Anomalies
language:en
Short-container-title:Congenital Anomalies

Author:

Shimojima Keiko¹,Okamoto Nobuhiko²,Yamamoto Toshiyuki¹

Affiliation:

1. Institute for Integrated Medical Sciences; Tokyo Women's Medical University; Tokyo Japan

2. Department of Medical Genetics; Osaka Medical Center and Research Institute for Maternal and Child Health; Izumi Japan

Funder

Health Labor Sciences Research Grants from the Ministry of Health, Labor, and Welfare, Japan

Japan Epilepsy Research Foundation (JERF)

Japan Science and Technology agency

Japan Society for the Promotion of Science (JSPS)

Kanae Foundation for the Promotion of Medical Science

Publisher

Wiley

Subject

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

Reference23 articles.

1. The facial dysmorphy in the newly recognised microdeletion 2p15-p16.1 refined to a 570 kb region in 2p15;Chabchoub;J Med Genet,2008

2. A newly recognised microdeletion syndrome involving 2p15p16.1: narrowing down the critical region by adding another patient detected by genome wide tiling path array comparative genomic hybridisation analysis;Leeuw;J Med Genet,2008

3. Segmental duplications: an “expanding” role in genomic instability and disease;Emanuel;Nat Rev Genet,2001

4. Haploinsufficiency of XPO1 and USP34 by a de novo 230 kb deletion in 2p15, in a patient with mild intellectual disability and cranio-facial dysmorphisms;Fannemel;Eur J Med Genet,2014

5. Further characterization of microdeletion syndrome involving 2p15-p16.1;Felix;Am J Med Genet A,2010

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1. Trait − driven analysis of the 2p15p16.1 microdeletion syndrome suggests a complex pattern of interactions between candidate genes;Genes & Genomics;2023-02-20

2. The first Korean case of 2p15p16.1 microdeletion syndrome, characterized by facial dysmorphism, developmental delay, and congenital hypothyroidism;Journal of Genetic Medicine;2022-12-31

3. A Japanese boy with double diagnoses of 2p15p16.1 microdeletion syndrome and RP2-associated retinal disorder;Human Genome Variation;2021-12

4. Prenatal diagnosis of familial 2p15 microduplication associated with pulmonary artery stenosis, single umbilical artery and left foot postaxial polydactyly on fetal ultrasound;Taiwanese Journal of Obstetrics and Gynecology;2021-01

5. Inhibition of Autism-Related Crm1 Disrupts Mitosis and Induces Apoptosis of the Cortical Neural Progenitors;Cerebral Cortex;2020-02-01

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