(Q36855607)

16 August 2017

Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy (English)

1 reference

16 August 2017

Sharie B Parks

1

1 reference

16 August 2017

Jessica D Kushner

2

1 reference

16 August 2017

Deirdre Nauman

3

1 reference

16 August 2017

Donna Burgess

4

1 reference

16 August 2017

Susan Ludwigsen

5

1 reference

16 August 2017

Amanda Peterson

6

1 reference

16 August 2017

Duanxiang Li

7

1 reference

16 August 2017

Petra Jakobs

8

1 reference

16 August 2017

Michael Litt

9

1 reference

16 August 2017

Charles B Porter

10

1 reference

16 August 2017

Peter S Rahko

11

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16 August 2017

Ray E Hershberger

12

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16 August 2017

language of work or name

English

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publication date

12 March 2008

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16 August 2017

American Heart Journal

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16 August 2017

156

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16 August 2017

1

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16 August 2017

161-169

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Clinical characteristics of 304 kindreds evaluated for familial dilated cardiomyopathy

16 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2527054

Clinical and genetic issues in familial dilated cardiomyopathy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2527054

Genetic causes of human heart failure

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2527054

How do mutations in lamins A and C cause disease?

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2527054

Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2527054

SIFT: Predicting amino acid changes that affect protein function

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2527054

Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2527054

Human non-synonymous SNPs: server and survey

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2527054

Molecular and cellular mechanisms of cardiac arrhythmias

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2527054

Genomic sequence, splicing, and gene annotation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2527054

Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2527054

Novel mutations in the lamin A/C gene in heart transplant recipients with end stage dilated cardiomyopathy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2527054

New metabolic phenotypes in laminopathies: LMNA mutations in patients with severe metabolic syndrome.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2527054

Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2527054

LMNA mutations in cardiac transplant recipients.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2527054

Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2527054

Compound mutations: a common cause of severe long-QT syndrome

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2527054

Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related disease

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2527054

High yield of LMNA mutations in patients with dilated cardiomyopathy and/or conduction disease referred to cardiogenetics outpatient clinics

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2527054

A homozygous ZMPSTE24 null mutation in combination with a heterozygous mutation in the LMNA gene causes Hutchinson-Gilford progeria syndrome (HGPS): insights into the pathophysiology of HGPS

4 December 2018

1 reference

12 December 2020

Novel LMNA mutations seen in patients with familial partial lipodystrophy subtype 2 (FPLD2; MIM 151660)

1 reference

12 December 2020

Lamin A/C Gene Mutation Associated With Dilated Cardiomyopathy With Variable Skeletal Muscle Involvement

1 reference

12 December 2020

High Incidence of Sudden Death with Conduction System and Myocardial Disease Due to Lamins A and C Gene Mutation

1 reference

12 December 2020

Novel lamin A/C mutations in two families with dilated cardiomyopathy and conduction system disease

1 reference

12 December 2020

A novel lamin A/C mutation in a family with dilated cardiomyopathy, prominent conduction system disease, and need for permanent pacemaker implantation

1 reference

12 December 2020

Natural history of dilated cardiomyopathy due to lamin A/C gene mutations

1 reference

12 December 2020

How really rare are rare diseases?: the intriguing case of independent compound mutations in the long QT syndrome

1 reference

12 December 2020

10.1016/J.AHJ.2008.01.026

Identifiers

DOI

1 reference

16 August 2017

1 reference

16 August 2017

PubMed publication ID

18585512

1 reference