1p13.2 deletion displays clinical features overlapping Noonan syndrome, likely related to NRAS gene haploinsufficiency-Reference-Cited by-同舟云学术

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1p13.2 deletion displays clinical features overlapping Noonan syndrome, likely related to NRAS gene haploinsufficiency

Published:2016-08-04 Issue:3 Volume:39 Page:349-357
ISSN:1678-4685
Container-title:Genetics and Molecular Biology
language:
Short-container-title:Genet. Mol. Biol.

Author:

Linhares Natália Duarte¹,Freire Maíra Cristina Menezes¹,Cardenas Raony Guimarães Corrêa do Carmo Lisboa¹,Pena Heloisa Barbosa²,Lachlan Katherine³,Dallapiccola Bruno⁴,Bacino Carlos⁵,Delobel Bruno⁶,James Paul⁷,Thuresson Ann-Charlotte⁸,Annerén Göran⁸,Pena Sérgio D. J.⁹

Affiliation:

1. Universidade Federal de Minas Gerais, Brazil

2. Laboratório Gene, Brazil

3. Princess Anne Hospital, United Kingdom

4. Bambino Gesù Children Hospital, Italy

5. Baylor College of Medicine, USA

6. Institut Catholique de Lille, France

7. Victorian Clinical Genetics Service, Australia

8. Uppsala University, Sweden

9. Universidade Federal de Minas Gerais, Brazil; Universidade Federal de Minas Gerais, Brazil; Laboratório Gene, Brazil

Publisher

FapUNIFESP (SciELO)

Subject

Genetics,Molecular Biology

Link

http://www.scielo.br/pdf/gmb/v39n3/1415-4757-gmb-1678-4685-GMB-2016-0049.pdf

Reference37 articles.

1. Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome;Albers CA;Nat Genet,2012

2. Interstitial deletion of the short arm of chromosome 1 (1p13.1p21.1) in a girl with mental retardation, short stature and colobomata;Bisgaard AM;Clin Dysmorphol,2007

3. Mendel, MD: A user-friendly online program for clinical exome analysis;Cardenas RGCCL;BMC Bioinform,2015

4. Rare copy number variations containing genes involved in RASopathies: Deletion of SHOC2 and duplication of PTPN11;Chen JL;Mol Cytogenet,2014

5. A restricted spectrum of NRAS mutations causes Noonan syndrome;Cirstea IC;Nat Genet,2010

Cited by 4 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 novel 1p13.2 deletion associates with neurodevelopmental disorders in a three-generation pedigree;BMC Medical Genomics;2023-05-23

2. Multifunctional requirements for ERK1/2 signaling in the development of ganglionic eminence derived glia and cortical inhibitory neurons;2022-08-04

3. Dual diagnosis in a child with familial SCN8A-related encephalopathy complicated by a 1p13.2 deletion involving NRAS gene;Neurological Sciences;2020-11-17

4. RAS GTPase-dependent pathways in developmental diseases: old guys, new lads, and current challenges;Current Opinion in Cell Biology;2018-12

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