(Q24675821)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8808598%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8808598%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

main subject

spinal muscular atrophy

1 reference

1 reference

G van der Steege

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8808598%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

P M Grootscholten

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8808598%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

J M Cobben

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8808598%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

S Zappata

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8808598%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

H Scheffer

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8808598%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

J T den Dunnen

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8808598%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

G J van Ommen

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8808598%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

C Brahe

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8808598%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

C H Buys

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8808598%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

language of work or name

English

0 references

publication date

1 October 1996

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8808598%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

19 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8808598%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

volume

59

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8808598%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8808598%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

page(s)

834-838

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8808598%20AND%20SRC:MED&resulttype=core&format=json

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

19 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914786

A glucocerebrosidase fusion gene in Gaucher disease. Implications for the molecular anatomy, pathogenesis, and diagnosis of this disorder

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914786

Mutations in steroid 21-hydroxylase (CYP21)

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914786

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914786

Identification and characterization of a spinal muscular atrophy-determining gene

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914786

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914786

Epidemiological data on Werdnig-Hoffmann disease in Germany (West-Thüringen).

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914786

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914786

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914786

Chimeric cDNA clones: a novel PCR artifact

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914786

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914786

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914786

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

28 November 2018

1 reference

12 December 2020

Genetic homogeneity between acute and chronic forms of spinal muscular atrophy

1 reference

12 December 2020

Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12-q14

1 reference

12 December 2020

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

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

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8808598%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

PubMed publication ID

8808598

1 reference