High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort (Q34201881)

31 July 2017

title

High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort (English)

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hypertrophic cardiomyopathy

31 July 2017

main subject

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Vanda Marques

2

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Vasco Lança

Vasco Lança

6

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Susana Santos

Susana Santos

1

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Hugo Madeira

Hugo Madeira

8

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Dulce Brito

Dulce Brito

7

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Isabel M. Carreira

Isabel M Carreira

11

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Alexandra R. Fernandes

Alexandra R Fernandes

14

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author name string

Marina Pires

3

1 reference

31 July 2017

Leonor Silveira

4

1 reference

31 July 2017

Helena Oliveira

5

1 reference

31 July 2017

J Fonseca Esteves

9

1 reference

31 July 2017

António Freitas

10

1 reference

31 July 2017

Isabel M Gaspar

12

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31 July 2017

Carolino Monteiro

13

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31 July 2017

publication date

19 March 2012

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31 July 2017

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31 July 2017

volume

13

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31 July 2017

page(s)

17

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Genetic diagnosis of hypertrophic cardiomyopathy using mass spectrometry DNA arrays and high resolution melting

31 July 2017

cites work

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359199

Diagnostic, prognostic, and therapeutic implications of genetic testing for hypertrophic cardiomyopathy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359199

A common MYBPC3 (cardiac myosin binding protein C) variant associated with cardiomyopathies in South Asia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359199

Diagnostic yield, interpretation, and clinical utility of mutation screening of sarcomere encoding genes in Danish hypertrophic cardiomyopathy patients and relatives

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359199

Validation of high-resolution DNA melting analysis for mutation scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359199

Mutation spectrum of 122 hemophilia A families from Taiwanese population by LD-PCR, DHPLC, multiplex PCR and evaluating the clinical application of HRM

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359199

Genetic basis of hypertrophic cardiomyopathy: from bench to the clinics

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359199

Hypertrophic cardiomyopathy in a Portuguese population: mutations in the myosin-binding protein C gene

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359199

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359199

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359199

Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359199

Phenotypic diversity in hypertrophic cardiomyopathy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359199

The molecular genetic basis for hypertrophic cardiomyopathy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359199

The Genetic Basis for Cardiomyopathy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359199

Mitochondrial uncoupling downregulates calsequestrin expression and reduces SR Ca2+ stores in cardiomyocytes

5 July 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-13-17

Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-13-17

Validation of high-resolution DNA melting analysis for mutation scanning of the LMNA gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-13-17

NF2 mutation screening by denaturing high-performance liquid chromatography and high-resolution melting analysis.

21 January 2018

1 reference

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Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359199

Familial hypertrophic cardiomyopathy: the same mutation, different prognosis. Comparison of two families with a long follow-up.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359199

The genetic basis for cardiomyopathy: from mutation identification to mechanistic paradigms

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359199

Cardiac Troponin T (TNNT2) Mutations Are Less Prevalent in Indian Hypertrophic Cardiomyopathy Patients

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359199

Hypertrophic cardiomyopathy

28 October 2018

1 reference

12 December 2020

The enigmatic diversity of hypertrophic cardiomyopathy

1 reference

12 December 2020

Prevalence and spectrum of mutations in the sarcomeric troponin T and I genes in a cohort of Spanish cardiac hypertrophy patients

1 reference

12 December 2020

Familial and sporadic hypertrophic myopathy: differences and similarities in a genotyped population. A long follow-up study

1 reference

12 December 2020

Rapid, sensitive and inexpensive detection of SCN5A genetic variations by high resolution melting analysis

1 reference

12 December 2020

Hypertrophic cardiomyopathy. A study of the troponin-T gene in 127 Spanish families

1 reference

12 December 2020

Hypertrophic cardiomyopathy

1 reference

12 December 2020

Development of a high resolution melting method for the detection of genetic variations in hypertrophic cardiomyopathy

1 reference

12 December 2020

The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands

1 reference

12 December 2020

Identifiers

DOI

10.1186/1471-2350-13-17

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Dimensions Publication ID

31 July 2017

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31 July 2017

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