Frequency of SMN1 deletion carriers in a Mestizo population of central and northeastern Mexico: A pilot study. (Q35758534)

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18 February 2020

title

Frequency of SMN1 deletion carriers in a Mestizo population of central and northeastern Mexico: A pilot study (English)

1 reference

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18 February 2020

4

1 reference

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18 February 2020

author name string

Silvina Noemi Contreras-Capetillo

1

1 reference

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18 February 2020

Hugo Leonid Gallardo Blanco

2

1 reference

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18 February 2020

Ricardo Martin Cerda-Flores

3

1 reference

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18 February 2020

Iris Torres-Muñoz

5

1 reference

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18 February 2020

Antonio Bravo-Oro

6

1 reference

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18 February 2020

Carmen Esmer

7

1 reference

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18 February 2020

Laura Ella Martínez DE Villarreal

8

1 reference

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18 February 2020

publication date

20 April 2015

1 reference

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Experimental and Therapeutic Medicine

18 February 2020

published in

1 reference

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18 February 2020

volume

9

1 reference

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18 February 2020

issue

6

1 reference

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18 February 2020

page(s)

2053-2058

1 reference

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Human genetics. The genetics of Mexico recapitulates Native American substructure and affects biomedical traits.

18 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4473530

Neurodegeneration in spinal muscular atrophy: from disease phenotype and animal models to therapeutic strategies and beyond

2 October 2017

1 reference

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Subtle mutations in the SMN1 gene in Chinese patients with SMA: p.Arg288Met mutation causing SMN1 transcript exclusion of exon7.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4473530

Cancer statistics for Hispanics/Latinos, 2012.

2 October 2017

1 reference

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Newborn screening for spinal muscular atrophy by calibrated short-amplicon melt profiling

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4473530

Spinal muscular atrophy: a clinical and research update

2 October 2017

1 reference

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Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4473530

Alternative splicing in spinal muscular atrophy underscores the role of an intron definition model

2 October 2017

1 reference

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Amplification ratio control system for copy number variation genotyping

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4473530

Population carrier screening for spinal muscular atrophy a position statement of the association for molecular pathology.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4473530

Perspectives and diagnostic considerations in spinal muscular atrophy

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4473530

Admixture mapping of 15,280 African Americans identifies obesity susceptibility loci on chromosomes 5 and X.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4473530

Phenotype modifiers of spinal muscular atrophy: the number of SMN2 gene copies, deletion in the NAIP gene and probably gender influence the course of the disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4473530

Deletions in the survival motor neuron gene in Iranian patients with spinal muscular atrophy

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4473530

A population-based study of genotypic and phenotypic variability in children with spinal muscular atrophy

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4473530

Genetic carrier screening for spinal muscular atrophy and spinal muscular atrophy with respiratory distress 1 in an isolated population in Israel

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4473530

Therapeutics development for spinal muscular atrophy

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4473530

Determination of SMN1 and SMN2 copy number using TaqMan technology

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4473530

An efficient procedure for genotyping single nucleotide polymorphisms.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4473530

Best practice guidelines for molecular analysis in spinal muscular atrophy

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4473530

An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA).

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4473530

Promoter analysis of the human centromeric and telomeric survival motor neuron genes (SMNC and SMNT).

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4473530

Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4473530

Differences in SMN1 allele frequencies among ethnic groups within North America

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4473530

Carrier frequency of SMA by quantitative analysis of the SMN1 deletion in the Iranian population.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4473530

Spinal muscular atrophy carrier screening by multiplex polymerase chain reaction using dried blood spot on filter paper.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4473530

[Molecular basis of spinal muscular atrophy: th SMN gene]

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4473530

Genetic risk assessment in carrier testing for spinal muscular atrophy

25 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26136935

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Large-scale population screening for spinal muscular atrophy: clinical implications

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26136935

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Determination of SMN1 and SMN2 copy numbers in a Korean population using multiplex ligation-dependent probe amplification

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26136935

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.3892/ETM.2015.2436

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26136935%20AND%20SRC:MED&resulttype=core&format=json

18 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26136935%20AND%20SRC:MED&resulttype=core&format=json

18 February 2020

PubMed publication ID

26136935

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26136935%20AND%20SRC:MED&resulttype=core&format=json