(Q55000619)

15 June 2018

title

Homozygous SMN1 deletions in unaffected family members and modification of the phenotype by SMN2. (English)

1 reference

15 June 2018

1 reference

Kathryn J Swoboda

1 reference

15 June 2018

author name string

Thomas W Prior

series ordinal

1 reference

15 June 2018

H Denman Scott

series ordinal

1 reference

15 June 2018

Ashley Q Hejmanowski

series ordinal

1 reference

15 June 2018

language of work or name

English

0 references

publication date

1 October 2004

1 reference

15 June 2018

American Journal of Medical Genetics

published in

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15 June 2018

volume

130A

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15 June 2018

issue

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15 June 2018

page(s)

307-310

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15 June 2018

Evidence for a modifying pathway in SMA discordant families: reduced SMN level decreases the amount of its interacting partners and Htra2-beta1

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4349519

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

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4349519

Animal models of spinal muscular atrophy

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4349519

Htra2-beta 1 stimulates an exonic splicing enhancer and can restore full-length SMN expression to survival motor neuron 2 (SMN2)

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4349519

A mouse model for spinal muscular atrophy

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4349519

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

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4349519

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

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4349519

Genomic Variation and Gene Conversion in Spinal Muscular Atrophy: Implications for Disease Process and Clinical Phenotype

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4349519

When Is a Deletion Not a Deletion? When It Is Converted

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4349519

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

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4349519

Identification and characterization of a spinal muscular atrophy-determining gene

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4349519

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

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4349519

Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4349519

Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2.

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4349519

Genetic homogeneity between childhood-onset and adult-onset autosomal recessive spinal muscular atrophy

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4349519

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

13 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/15378550

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/15378550

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/15378550

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/AJMG.A.30251

1 reference

15 June 2018

PMC publication ID

4349519

1 reference

15 June 2018

PubMed publication ID

15378550

1 reference

15 June 2018