(Q82292704)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21047176%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

title

Spinal muscular atrophy due to double gene conversion event (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21047176%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Spinal Muscular Atrophy Due to Double Gene Conversion Event (English)

1 reference

Crossref

https://api.crossref.org/works/10.3109/00207454.2010.529209

19 August 2024

main subject

spinal muscular atrophy

1 reference

1 reference

Wiéme Maamouri

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21047176%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Monia Benhamed Hammer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21047176%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Yosr Bouhlel

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21047176%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Sihem Souilem

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21047176%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Najla Khmiri

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21047176%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Houda Nehdi

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21047176%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Fayçal Hentati

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21047176%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Rim Amouri

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21047176%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=21047176

19 August 2024

publication date

3 November 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21047176%20AND%20SRC:MED&resulttype=core&format=json

full work available at URL

15 January 2020

http://www.tandfonline.com/doi/pdf/10.3109/00207454.2010.529209

1 reference

Crossref

https://api.crossref.org/works/10.3109/00207454.2010.529209

International Journal of Neuroscience

19 August 2024

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21047176%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

volume

121

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21047176%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

issue

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21047176%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

page(s)

107-111

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21047176%20AND%20SRC:MED&resulttype=core&format=json

Multiplex ligation-dependent probe amplification improves diagnostics in spinal muscular atrophy

15 January 2020

cites work

1 reference

https://api.crossref.org/works/10.3109/00207454.2010.529209

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

19 August 2024

1 reference

https://api.crossref.org/works/10.3109/00207454.2010.529209

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

19 August 2024

1 reference

https://api.crossref.org/works/10.3109/00207454.2010.529209

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

19 August 2024

1 reference

https://api.crossref.org/works/10.3109/00207454.2010.529209

American Journal of Human Genetics

19 August 2024

Bürglen L.

1997

1 reference

Crossref

https://api.crossref.org/works/10.3109/00207454.2010.529209

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

19 August 2024

1 reference

https://api.crossref.org/works/10.3109/00207454.2010.529209

Implementation of SMA carrier testing in genetic laboratories: comparison of two methods for quantifying theSMN1gene

19 August 2024

1 reference

https://api.crossref.org/works/10.3109/00207454.2010.529209

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

19 August 2024

1 reference

https://api.crossref.org/works/10.3109/00207454.2010.529209

Identification and characterization of a spinal muscular atrophy-determining gene

19 August 2024

1 reference

https://api.crossref.org/works/10.3109/00207454.2010.529209

Genetic study of SMA patients without homozygous SMN1 deletions: identification of compound heterozygotes and characterisation of novel intragenic SMN1 mutations

19 August 2024

1 reference

https://api.crossref.org/works/10.3109/00207454.2010.529209

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

19 August 2024

1 reference

https://api.crossref.org/works/10.3109/00207454.2010.529209

Inverse correlation between SMN1 and SMN2 copy numbers: evidence for gene conversion from SMN2 to SMN1.

19 August 2024

1 reference

https://api.crossref.org/works/10.3109/00207454.2010.529209

Tumor suppression by RNA from the 3' untranslated region of alpha-tropomyosin

19 August 2024

1 reference

https://api.crossref.org/works/10.3109/00207454.2010.529209

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

19 August 2024

1 reference

https://api.crossref.org/works/10.3109/00207454.2010.529209

Gene conversion at the SMN locus in autosomal recessive spinal muscular atrophy does not predict a mild phenotype

19 August 2024

1 reference

https://api.crossref.org/works/10.3109/00207454.2010.529209

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

19 August 2024

1 reference

https://api.crossref.org/works/10.3109/00207454.2010.529209

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

19 August 2024

1 reference

https://api.crossref.org/works/10.3109/00207454.2010.529209

Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number

19 August 2024

1 reference

https://api.crossref.org/works/10.3109/00207454.2010.529209

Natural history in proximal spinal muscular atrophy. Clinical analysis of 445 patients and suggestions for a modification of existing classifications

19 August 2024

1 reference

https://api.crossref.org/works/10.3109/00207454.2010.529209

19 August 2024

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21047176%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21047176%20AND%20SRC:MED&resulttype=core&format=json