(Q35250646)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9199562%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9199562%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

main subject

spinal muscular atrophy

1 reference

1 reference

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9199562%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

McAndrew PE

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9199562%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

Parsons DW

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9199562%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

Simard LR

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9199562%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

Rochette C

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9199562%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

Ray PN

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9199562%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

Mendell JR

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9199562%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

Prior TW

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9199562%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

language of work or name

English

0 references

publication date

1 June 1997

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9199562%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

4 November 2019

published in

1 reference

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4 November 2019

volume

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9199562%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

issue

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9199562%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

page(s)

1411-1422

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9199562%20AND%20SRC:MED&resulttype=core&format=json

Missense mutation clustering in the survival motor neuron gene: a role for a conserved tyrosine and glycine rich region of the protein in RNA metabolism?

4 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716150

An 11 base pair duplication in exon 6 of the SMN gene produces a type I spinal muscular atrophy (SMA) phenotype: further evidence for SMN as the primary SMA-determining gene.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716150

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716150

Molecular analysis of the SMN and NAIP genes in Spanish spinal muscular atrophy (SMA) families and correlation between number of copies of cBCD541 and SMA phenotype

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716150

Apparent gene conversions involving the SMN gene in the region of the spinal muscular atrophy locus on chromosome 5

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716150

Unusual molecular findings in autosomal recessive spinal muscular atrophy

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716150

A rapid and versatile method to synthesize internal standards for competitive PCR

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716150

A contig of non-chimaeric YACs containing the spinal muscular atrophy gene in 5q13.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716150

Construction of a yeast artificial chromosome contig spanning the spinal muscular atrophy disease gene region

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716150

Mapping of two new markers within the smallest interval harboring the spinal muscular atrophy locus by family and radiation hybrid analysis

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716150

The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716150

Identification and characterization of a spinal muscular atrophy-determining gene

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716150

Gene amplification for c-erbB-2, c-myc, epidermal growth factor receptor, int-2, and N-myc measured by quantitative PCR with a multiple competitor template.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716150

Mapping of the spinal muscular atrophy (SMA) gene to a 750-kb interval flanked by two new microsatellites.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716150

A novel cDNA detects homozygous microdeletions in greater than 50% of type I spinal muscular atrophy patients

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716150

A YAC contig of the region containing the spinal muscular atrophy gene (SMA): identification of an unstable region

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716150

A frame–shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716150

Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716150

A simple salting out procedure for extracting DNA from human nucleated cells

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716150

Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716150

Identification of mutations in exons 1 through 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716150

Proximal spinal muscular atrophy (SMA) types II and III in the same sibship are not caused by different alleles at the SMA locus on 5q.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716150

Quantitative Film Detection of 3H and 14C in Polyacrylamide Gels by Fluorography

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716150

Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA).

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716150

Cloning, characterization, and copy number of the murine survival motor neuron gene: homolog of the spinal muscular atrophy-determining gene

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716150

cDNA isolation, expression, and chromosomal localization of the mouse survival motor neuron gene (Smn).

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716150

A multicopy dinucleotide marker that maps close to the spinal muscular atrophy gene.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716150

Association between Ag1-CA alleles and severity of autosomal recessive proximal spinal muscular atrophy.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716150

Large linkage analysis in 100 families with autosomal recessive spinal muscular atrophy (SMA) and 11 CEPH families using 15 polymorphic loci in the region 5q11.2-q13.3.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716150

Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716150

Determination of Gene Dosage by a Quantitative Adaptation of the Polymerase Chain Reaction (gd-PCR): Rapid Detection of Deletions and Duplications of Gene Sequences

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716150

Deletion and conversion in spinal muscular atrophy patients: is there a relationship to severity?

24 October 2018

1 reference

12 December 2020

Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q

1 reference

12 December 2020

Linkage study of chronic childhood-onset spinal muscular atrophy (SMA): confirmation of close linkage to D5S39 in French Canadian families

1 reference

12 December 2020

Linkage mapping of the spinal muscular atrophy gene

1 reference

12 December 2020

Measuring c-erbB-2 oncogene amplification in fresh and paraffin-embedded tumors by competitive polymerase chain reaction

1 reference

12 December 2020

De novo and inherited deletions of the 5q13 region in spinal muscular atrophies

1 reference

12 December 2020

Allelic association and deletions in autosomal recessive proximal spinal muscular atrophy: association of marker genotype with disease severity and candidate cDNAs

1 reference

12 December 2020

Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals

1 reference

12 December 2020

Characterization of survival motor neuron (SMNT) gene deletions in asymptomatic carriers of spinal muscular atrophy

1 reference

12 December 2020

Frameshift mutation in the survival motor neuron gene in a severe case of SMA type I

1 reference

12 December 2020

Quantification, by solid-phase minisequencing, of the telomeric and centromeric copies of the survival motor neuron gene in families with spinal muscular atrophy

1 reference

12 December 2020

Classification of spinal muscular atrophies

1 reference

12 December 2020

Identifiers

DOI

10.1086/515465

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9199562%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9199562%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

PubMed publication ID

9199562

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9199562%20AND%20SRC:MED&resulttype=core&format=json