(Q33940731)

30 July 2017

title

Recurrent chromosome 16p13.1 duplications are a risk factor for aortic dissections (English)

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30 July 2017

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17

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30 July 2017

12

Joseph S Coselli

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30 July 2017

15

Suzanne M Leal

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30 July 2017

Shao-Qing Kuang

1

1 reference

30 July 2017

Dong-Chuan Guo

2

1 reference

30 July 2017

Siddharth K Prakash

3

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30 July 2017

Merry-Lynn N McDonald

4

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30 July 2017

Ralph J Johnson

5

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30 July 2017

Min Wang

6

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30 July 2017

Ellen S Regalado

7

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30 July 2017

Ludivine Russell

8

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30 July 2017

Jiu-Mei Cao

9

1 reference

30 July 2017

Callie Kwartler

10

1 reference

30 July 2017

Kurt Fraivillig

11

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30 July 2017

Hazim J Safi

13

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30 July 2017

Anthony L Estrera

14

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30 July 2017

Scott A LeMaire

16

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30 July 2017

Dianna M Milewicz

18

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30 July 2017

GenTAC Investigators

19

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30 July 2017

publication date

16 June 2011

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30 July 2017

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30 July 2017

volume

7

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30 July 2017

issue

6

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30 July 2017

page(s)

e1002118

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Creative Commons Attribution 4.0 International

30 July 2017

copyright license

start time

16 June 2011

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Rare copy number variants disrupt genes regulating vascular smooth muscle cell adhesion and contractility in sporadic thoracic aortic aneurysms and dissections

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3116911

Mutations in myosin light chain kinase cause familial aortic dissections

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3116911

Rare chromosomal deletions and duplications in attention-deficit hyperactivity disorder: a genome-wide analysis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3116911

Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3116911

2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM guidelines for the diagnosis and management of patients with Thoracic Aortic Disease: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guideli

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3116911

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3116911

Copy number variations of chromosome 16p13.1 region associated with schizophrenia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3116911

Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3116911

Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3116911

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3116911

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3116911

Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3116911

Genetic basis of thoracic aortic aneurysms and dissections: focus on smooth muscle cell contractile dysfunction

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3116911

Structural genomic variation in ischemic stroke

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3116911

Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3116911

MYH11 mutations result in a distinct vascular pathology driven by insulin-like growth factor 1 and angiotensin II

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3116911

The UNC-45 chaperone mediates sarcomere assembly through myosin degradation in Caenorhabditis elegans

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3116911

Recurrent duplication-driven transposition of DNA during hominoid evolution

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3116911

Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3116911

Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3116911

The International HapMap Project

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3116911

Deaths: final data for 1999.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3116911

Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3116911

Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation.

5 July 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002118

Chromosomal disorders and autism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002118

Partial trisomy 16p in an adolescent with autistic disorder and Tourette's syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002118

Familial thoracic aortic aneurysms and dissections--incidence, modes of inheritance, and phenotypic patterns

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002118

Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002118

Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002118

Expression and function of COOH-terminal myosin heavy chain isoforms in mouse smooth muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002118

Familial thoracic aortic dilatations and dissections: a case control study

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21698135

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

How segmental duplications shape our genome: recent evolution of ABCC6 and PKD1 Mendelian disease genes

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21698135

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PGEN.1002118

1 reference

30 July 2017

1 reference

30 July 2017

1 reference