Two familial microduplications of 15q26.3 causing overgrowth and variable intellectual disability with normal copy number of IGF1R-Reference-Cited by-同舟云学术

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Two familial microduplications of 15q26.3 causing overgrowth and variable intellectual disability with normal copy number of IGF1R

Published:2016-04 Issue:4 Volume:59 Page:257-262
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Leffler Melanie,Puusepp Sanna,Žilina Olga,Zhu Ying,Kuuse Kati,Bain Nicole,Burgess Trent,Õunap Katrin,Field Michael

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference22 articles.

1. A case of de novo distal duplication of chromosome 15;Abe;Clin. Genet.,2003

2. Trisomy 15q25.2-qter in an autistic child: genotype-phenotype correlations;Bonati;Am. J. Med. Genet. Part A,2005

3. Terminal 2q deletion and distal 15q duplication: prenatal diagnosis by array comparative genomic hybridization using uncultured amniocytes;Chen;Taiwan J. Obstet. Gynecol.,2009

4. Chromosome 15q overgrowth syndrome: prenatal diagnosis, molecular cytogenetic characterization, and perinatal findings in a fetus with dup(15)(q26.2q26.3);Chen;Taiwan. J. Obstet. Gynecol.,2011

5. Expanding the mind: insulin-like growth factor I and brain development;D'Ercole;Endocrinology,2008

Cited by 13 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. Role of Insulin-like Growth Factor-1 Receptor in Tobacco Smoking-Associated Lung Cancer Development;Biomedicines;2024-03-02

2. 15q26.3 deletions distal to IGF1R cause growth retardation, congenital heart defect and skeletal anomalies: Case report and review of literature;American Journal of Medical Genetics Part A;2023-07-12

3. Monochorionic twins with 15q26.3 duplication presenting with selective intrauterine growth restriction and discordant cardiac anomalies: A case report;Molecular Genetics & Genomic Medicine;2022-07-06

4. Genome wide noninvasive prenatal testing detects microduplication of the distal end of chromosome 15 in a fetus: a case report;Molecular Cytogenetics;2022-04-02

5. A Tiered Genetic Screening Strategy for the Molecular Diagnosis of Intellectual Disability in Chinese Patients;Frontiers in Genetics;2021-09-23

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