Triplication of 16p12.1p12.3 associated with developmental and growth delay and distinctive facial features-Reference-Cited by-同舟云学术

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Triplication of 16p12.1p12.3 associated with developmental and growth delay and distinctive facial features

Published:2015-12-08 Issue:3 Volume:170 Page:712-716
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Nimmo Graeme A. M.¹,Guerin Andrea¹²,Badilla-Porras Ramses¹,Stavropoulos Dimitri J.³,Yoon Grace¹,Carter Melissa T.¹

Affiliation:

1. Division of Clinical and Metabolic Genetics, The Hospital for Sick Children; The University of Toronto; Toronto Ontario

2. Division of Medical Genetics; The Hospital for Sick Children; The University of Toronto; Kingston Ontario

3. Department of Pediatric Laboratory Medicine, Hospital for Sick Children; University of Toronto; Toronto Ontario

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.37483/fullpdf

Reference16 articles.

1. Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2;Ballif;Nat Genet,2007

2. 16p11. 2-p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2;Barber;Eur J Hum Genet,2013

3. M-banding characterization of a 16p11.2p13.1 tandem duplication in a child with autism, neurodevelopmental delay and dysmorphism;Behjati;Eur J Med Genet,2008

4. First prenatally diagnosed case of 16p11.2p12.1 duplication;Bourthoumieu;Prenat Diagn,2008

5. Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome;Carvalho;Nat Genet,2011

Cited by 2 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. Implementation of chromosomal microarrays in a cohort of patients with intellectual disability at the Argentinean public health system;Molecular Biology Reports;2020-09

2. A de novo microtriplication at 4q21.21-q21.22 in a patient with a vascular malignant hemangioma, elongated sigmoid colon, developmental delay, and absence of speech;American Journal of Medical Genetics Part A;2016-06-10

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