(Q34012395)

30 July 2017

Genetic screening of Fabry patients with EcoTILLING and HRM technology (English)

1 reference

30 July 2017

Giovanni Duro

8

1 reference

ORCID Public Data File 2021

author name string

Caterina Bono

1

1 reference

30 July 2017

Domenico Nuzzo

2

1 reference

30 July 2017

Giuseppe Albeggiani

3

1 reference

30 July 2017

Carmela Zizzo

4

1 reference

30 July 2017

Daniele Francofonte

5

1 reference

30 July 2017

Francesco Iemolo

6

1 reference

30 July 2017

Enzo Sanzaro

7

1 reference

30 July 2017

6 September 2011

1 reference

30 July 2017

1 reference

30 July 2017

4

1 reference

30 July 2017

323

1 reference

Creative Commons Attribution 2.0 Generic

30 July 2017

start time

6 September 2011

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

1 reference

April 2022 Public Data File from Crossref

exact match

https://scigraph.springernature.com/pub.10.1186/1756-0500-4-323

0 references

cites work

Microsatellite instability detection by high-resolution melting analysis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180462

Detection of monoclonal immunoglobulin heavy chain gene rearrangement (FR3) in Thai malignant lymphoma by High Resolution Melting curve 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=3180462

High-resolution DNA melting analysis in clinical research and diagnostics

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180462

Rapid detection of rifampicin- and isoniazid-resistant Mycobacterium tuberculosis by high-resolution melting 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=3180462

Rapid identification and differentiation of Mycobacterium avium subspecies paratuberculosis types by use of real-time PCR and high-resolution melt analysis of the MAP1506 locus

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180462

Functional studies of new GLA gene mutations leading to conformational Fabry 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=3180462

Fabry disease: recent advances in pathology, diagnosis, treatment and monitoring

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180462

Application of TILLING and EcoTILLING as Reverse Genetic Approaches to Elucidate the Function of Genes in Plants and Animals

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180462

Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180462

An optimized procedure for the design and evaluation of Ecotilling assays

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180462

Globotriaosylceramide induces oxidative stress and up-regulates cell adhesion molecule expression in Fabry disease endothelial cells.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180462

High resolution melting applications for clinical laboratory medicine

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180462

Rapid detection of carriers with BRCA1 and BRCA2 mutations using high resolution melting 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=3180462

Elevated globotriaosylsphingosine is a hallmark of Fabry 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=3180462

Discovery of chemically induced mutations in rice by TILLING.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180462

The heart in Anderson-Fabry disease and other lysosomal storage 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=3180462

High resolution melting analysis for the rapid and sensitive detection of mutations in clinical samples: KRAS codon 12 and 13 mutations in non-small cell lung cancer.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180462

High-throughput discovery of rare human nucleotide polymorphisms by Ecotilling

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180462

Use of Ecotilling as an efficient SNP discovery tool to survey genetic variation in wild populations of Populus trichocarpa

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180462

Genotyping of single-nucleotide polymorphisms by high-resolution melting of small amplicons

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180462

Efficient discovery of DNA polymorphisms in natural populations by Ecotilling.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180462

Spectrum of chemically induced mutations from a large-scale reverse-genetic screen in Arabidopsis.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180462

High-resolution genotyping by amplicon melting analysis using LCGreen

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180462

Targeted screening for induced mutations

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180462

Sequence variations in the first exon of alpha-galactosidase A.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180462

Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry 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=3180462

Assignment of alpha-galactosidase (alpha GAL) to the q22 leads to qter region of the X chromosome in man.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180462

SNP genotyping by unlabeled probe melting analysis.

5 July 2018

1 reference

https://api.crossref.org/works/10.1186%2F1756-0500-4-323

Sensitivity and specificity of single-nucleotide polymorphism scanning by high-resolution melting analysis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1756-0500-4-323

Detection of factor VIII gene mutations by high-resolution melting analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1756-0500-4-323

Assessing Gene-Specific Methylation Using HRM-Based Analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1756-0500-4-323

Frequency of Fabry disease in patients with small-fibre neuropathy of unknown aetiology: a pilot study

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180462

Evaluation of high-resolution melting (HRM) for mutation scanning of selected exons of the CFTR gene.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180462

High-throughput TILLING for functional genomics.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180462

Novel human pathological mutations. Gene symbol: GLA. Disease: Fabry disease

29 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21896204

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography.

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21896204

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

SYTO9 and SYBR GREEN1 with a high-resolution melting analysis for prenatal diagnosis of β⁰-thalassemia/hemoglobin-E

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21896204

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1756-0500-4-323

1 reference

Dimensions Publication ID

30 July 2017

0 references

1 reference

30 July 2017

1 reference