A novel custom resequencing array for dilated cardiomyopathy (Q24602132)

17

0 references

Christine E. Seidman

14

object named as

Christine E Seidman

0 references

author name string

Rebekah S Zimmerman

1

0 references

Stephanie Cox

2

0 references

Neal K Lakdawala

3

0 references

Allison Cirino

4

0 references

Debora Mancini-DiNardo

5

0 references

Eugene Clark

6

0 references

Annette Leon

7

0 references

Elizabeth Duffy

8

0 references

Emily White

9

0 references

Samantha Baxter

10

0 references

Manal Alaamery

11

0 references

Lisa Farwell

12

0 references

Scott Weiss

13

0 references

Jonathan G Seidman

15

0 references

Birgit H Funke

Nexilin mutations destabilize cardiac Z-disks and lead to dilated cardiomyopathy

18

0 references

language of work or name

English

0 references

publication date

May 2010

0 references

published in

Genetics in Medicine

0 references

volume

12

0 references

issue

5

0 references

page(s)

268-78

0 references

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3018746

ANKRD1, the gene encoding cardiac ankyrin repeat protein, is a novel dilated cardiomyopathy gene

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3018746

A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3018746

Microarray-based resequencing of multiple Bacillus anthracis isolates

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3018746

Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3018746

Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3018746

ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3018746

The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3018746

High-throughput variation detection and genotyping using microarrays

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3018746

Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3018746

Validation of microarray-based resequencing of 93 worldwide mitochondrial genomes

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3018746

Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3018746

Cardiac-myocyte-specific excision of the vinculin gene disrupts cellular junctions, causing sudden death or dilated cardiomyopathy

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3018746

Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3018746

Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3018746

Mutations in the muscle LIM protein and α-actinin-2 genes in dilated cardiomyopathy and endocardial fibroelastosis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3018746

Mutational analysis of the beta- and delta-sarcoglycan genes in a large number of patients with familial and sporadic dilated cardiomyopathy

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3018746

Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3018746

Emery-Dreifuss muscular dystrophy - a 40 year retrospective

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3018746

Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3018746

Mutations in Emery-Dreifuss muscular dystrophy and their effects on emerin protein expression

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3018746

Progress with genetic cardiomyopathies: screening, counseling, and testing in dilated, hypertrophic, and arrhythmogenic right ventricular dysplasia/cardiomyopathy.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3018746

Mutations in ribonucleic acid binding protein gene cause familial dilated cardiomyopathy

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3018746

The role of sarcomere gene mutations in patients with idiopathic dilated cardiomyopathy

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3018746

Estimating the number of unseen variants in the human genome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3018746

Mutations causing severe combined immunodeficiency: detection with a custom resequencing microarray

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3018746

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3018746

Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3018746

Array-based resequencing assay for mutations causing hypertrophic cardiomyopathy

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3018746

Sarcomeric proteins and inherited cardiomyopathies.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3018746

High throughput genetic analysis of congenital myasthenic syndromes using resequencing microarrays

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3018746

Registry of the International Society for Heart and Lung Transplantation: twenty-fourth official adult heart transplant report--2007.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3018746

Laminin-alpha4 and integrin-linked kinase mutations cause human cardiomyopathy via simultaneous defects in cardiomyocytes and endothelial cells

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3018746

Most rare missense alleles are deleterious in humans: implications for complex disease and association studies

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3018746

Mutations of presenilin genes in dilated cardiomyopathy and heart failure

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3018746

An oligonucleotide microarray for high-throughput sequencing of the mitochondrial genome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3018746

Variable pathogenic potentials of mutations located in the desmin alpha-helical domain.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3018746

A novel Val734Ile variant in the ABCC9 gene associated with myocardial infarction.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3018746

Sequencing arrays for screening multiple genes associated with early-onset human retinal degenerations on a high-throughput platform

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3018746

In vivo and in vitro examination of the functional significances of novel lamin gene mutations in heart failure patients

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3018746

Clinical and genetic issues in familial dilated cardiomyopathy

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3018746

The biology of desmin filaments: how do mutations affect their structure, assembly, and organisation?

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3018746

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3018746

A Cypher/ZASP mutation associated with dilated cardiomyopathy alters the binding affinity to protein kinase C.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3018746

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3018746

Human phospholamban null results in lethal dilated cardiomyopathy revealing a critical difference between mouse and human

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3018746

Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3018746

Desmin mutation responsible for idiopathic dilated cardiomyopathy

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3018746

The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3018746

An overview of custom array sequencing

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3018746

Novel mutations in sarcomeric protein genes in dilated cardiomyopathy.

30 May 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181D6F7C0

A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181D6F7C0

Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181D6F7C0

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181D6F7C0

High incidence of sudden cardiac death with conduction disturbances and atrial cardiomyopathy caused by a nonsense mutation in the STA gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181D6F7C0

Early onset of cardiomyopathy in two brothers with X-linked Emery-Dreifuss muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181D6F7C0

Early and sustained benefit on event-free survival and heart failure hospitalization from fixed-dose combination of isosorbide dinitrate/hydralazine: consistency across subgroups in the African-American Heart Failure Trial

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181D6F7C0

W4R variant in CSRP3 encoding muscle LIM protein in a patient with hypertrophic cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181D6F7C0

Metavinculin mutations alter actin interaction in dilated cardiomyopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181D6F7C0

Identification of a metavinculin missense mutation, R975W, associated with both hypertrophic and dilated cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181D6F7C0

Identification and functional characterization of cardiac troponin I as a novel disease gene in autosomal dominant dilated cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181D6F7C0

Epidemiology of desmin and cardiac actin gene mutations in a european population of dilated cardiomyopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181D6F7C0

Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181D6F7C0

Novel human pathological mutations. Gene symbol: LMNA. Disease: cardiomyopathy, dilated with conduction defects.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3018746

Identification of mutational hot spots in LMNA encoding lamin A/C in patients with familial dilated cardiomyopathy

28 November 2018

1 reference

12 December 2020

Genetic variants in the promoter (g983G>T) and coding region (A92T) of the human cardiotrophin-1 gene (CTF1) in patients with dilated cardiomyopathy

1 reference

12 December 2020

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

1 reference

12 December 2020

A novel mutation, Arg71Thr, in the ?-sarcoglycan gene is associated with dilated cardiomyopathy

1 reference

12 December 2020

Gene mutations in adult Japanese patients with dilated cardiomyopathy

1 reference

12 December 2020

Large-scale mutation screening in patients with dilated or hypertrophic cardiomyopathy: a pilot study using DGGE

1 reference

12 December 2020

Phospholamban R14 deletion results in late-onset, mild, hereditary dilated cardiomyopathy

1 reference

12 December 2020

Prevalence of Desmin Mutations in Dilated Cardiomyopathy

1 reference

12 December 2020

Desmin mutations in a St. Petersburg cohort of cardiomyopathies

1 reference

12 December 2020

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181D6F7C0

1 reference

7 January 2021