(Q41098351)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12411585%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

title

Quantification of PCR bias caused by a single nucleotide polymorphism in SMN gene dosage analysis (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12411585%20AND%20SRC:MED&resulttype=core&format=json

single-nucleotide polymorphism

14 December 2019

main subject

1 reference

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12411585%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

author name string

Robert B Wilson

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12411585%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

publication date

1 November 2002

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12411585%20AND%20SRC:MED&resulttype=core&format=json

The Journal of Molecular Diagnostics

14 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12411585%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

volume

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12411585%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

page(s)

185-190

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12411585%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12411585%20AND%20SRC:MED&resulttype=core&format=json

Spinal muscular atrophy genetic testing experience at an academic medical center.

14 December 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3278980

Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3278980

Aclarubicin treatment restores SMN levels to cells derived from type I spinal muscular atrophy patients

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3278980

Treatment of spinal muscular atrophy by sodium butyrate

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3278980

SMN gene duplication and the emergence of the SMN2 gene occurred in distinct hominids: SMN2 is unique to Homo sapiens.

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3278980

Genotype determination at the survival motor neuron locus in a normal population and SMA carriers using competitive PCR and primer extension

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3278980

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

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3278980

A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2.

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3278980

A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3278980

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

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3278980

A novel function for SMN, the spinal muscular atrophy disease gene product, in pre-mRNA splicing

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3278980

Bias in template-to-product ratios in multitemplate PCR

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3278980

Detection and measurement of PCR bias in quantitative methylation analysis of bisulphite-treated DNA.

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3278980

Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3278980

Structure and organization of the human survival motor neurone (SMN) gene

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3278980

Identification and characterization of a spinal muscular atrophy-determining gene

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3278980

PCR bias in amplification of androgen receptor alleles, a trinucleotide repeat marker used in clonality studies

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3278980

Inhibition of PCR amplification by a point mutation downstream of a primer.

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3278980

Preferential PCR amplification of alleles: mechanisms and solutions

14 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3278980

Heteroduplex formation in SMN gene dosage analysis

14 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3278980

Bias in estimations of DNA content by competitive polymerase chain reaction.

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3278980

PCR bias toward the wild-type k-ras and p53 sequences: implications for PCR detection of mutations and cancer diagnosis

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3278980

Duplications and de novo deletions of the SMNt gene demonstrated by fluorescence-based carrier testing for spinal muscular atrophy

4 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/12411585

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Genetic risk assessment in carrier testing for spinal muscular atrophy

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/12411585

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Analysis of the mRNA transcripts of the survival motor neuron (SMN) gene in the tissue of an SMA fetus and the peripheral blood mononuclear cells of normals, carriers and SMA patients

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/12411585

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/S1525-1578(10)60702-7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12411585%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12411585%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

1 reference