Clinical utility gene card for: proximal spinal muscular atrophy (Q42174440)

18 October 2017

Clinical utility gene card for: proximal spinal muscular atrophy (English)

1 reference

18 October 2017

spinal muscular atrophy

1 reference

inferred from title

author name string

Sabine Rudnik-Schöneborn

1

1 reference

18 October 2017

Thomas Eggermann

2

1 reference

18 October 2017

Wolfram Kress

3

1 reference

18 October 2017

Henny H Lemmink

4

1 reference

18 October 2017

Jan-Maarten Cobben

5

1 reference

18 October 2017

Klaus Zerres

6

1 reference

18 October 2017

18 April 2012

1 reference

European Journal of Human Genetics

18 October 2017

1 reference

18 October 2017

20

1 reference

18 October 2017

6

1 reference

18 October 2017

17

1 reference

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

18 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355269

Determination of SMN1 and SMN2 copy number using TaqMan technology

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355269

Genetic testing and risk assessment for spinal muscular atrophy (SMA).

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355269

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 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355269

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 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355269

Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number.

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355269

Spinal muscular atrophy due to an isolated deletion of exon 8 of the telomeric survival motor neuron gene.

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355269

De novo rearrangements found in 2% of index patients with spinal muscular atrophy: mutational mechanisms, parental origin, mutation rate, and implications for genetic counseling

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355269

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

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355269

Identification and characterization of a spinal muscular atrophy-determining gene

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355269

Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene.

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355269

Molecular analysis of SMA patients without homozygous SMN1 deletions using a new strategy for identification of SMN1 subtle mutations

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355269

A genetic and phenotypic analysis in Spanish spinal muscular atrophy patients with c.399_402del AGAG, the most frequently found subtle mutation in the SMN1 gene

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355269

Spinal muscular atrophy genotyping by gene dosage using multiple ligation-dependent probe amplification

17 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2012.62

International SMA consortium meeting. (26-28 June 1992, Bonn, Germany)

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22510849

12 December 2020

inferred from PubMed ID database lookup

Technical standards and guidelines for spinal muscular atrophy testing

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22510849

12 December 2020

inferred from PubMed ID database lookup

PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2012.62

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1038/EJHG.2012.62

1 reference

Dimensions Publication ID

18 October 2017

1030212719

0 references

Fatcat ID

release_aoccjfks7fh2nkzd3imckgdwfq

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/aoccjfks7fh2nkzd3imckgdwfq

24 November 2022

mapped directly with Wikidata item

1 reference

18 October 2017

PubMed publication ID

22510849

1 reference