(Q35869354)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11826188%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

title

Spinal muscular atrophy genetic testing experience at an academic medical center (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11826188%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

main subject

spinal muscular atrophy

1 reference

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11826188%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

author name string

Debra G B Leonard

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11826188%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

Hanna Rennert

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11826188%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

Robert B Wilson

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11826188%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

publication date

1 February 2002

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11826188%20AND%20SRC:MED&resulttype=core&format=json

The Journal of Molecular Diagnostics

6 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11826188%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

volume

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11826188%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

page(s)

53-58

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11826188%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11826188%20AND%20SRC:MED&resulttype=core&format=json

An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA).

6 December 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1906969

The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1906969

A mouse model for spinal muscular atrophy

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1906969

A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1906969

A novel function for SMN, the spinal muscular atrophy disease gene product, in pre-mRNA splicing

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1906969

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1906969

When is a deletion not a deletion? When it is converted

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1906969

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1906969

Spinal muscular atrophy--clinical and genetic correlations

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1906969

Hybrid survival motor neuron genes in patients with autosomal recessive spinal muscular atrophy: new insights into molecular mechanisms responsible for the disease.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1906969

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1906969

Survival motor neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1906969

Use of genetic and physical mapping to locate the spinal muscular atrophy locus between two new highly polymorphic DNA markers

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1906969

Refinement of the spinal muscular atrophy locus by genetic and physical mapping.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1906969

Identification and characterization of a spinal muscular atrophy-determining gene

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1906969

Diaphragmatic paralysis due to spinal muscular atrophy. An unrecognised cause of respiratory failure in infancy?

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1906969

Heteroduplex formation in SMN gene dosage analysis

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1906969

Clinical spectrum and diagnostic criteria of infantile spinal muscular atrophy: further delineation on the basis of SMN gene deletion findings.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1906969

Early diaphragmatic paralysis. In infants with genetic disorders.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1906969

Respiratory distress as the initial manifestation of Werdnig-Hoffmann disease

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1906969

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

14 November 2018

1 reference

12 December 2020

Duplications and de novo deletions of the SMNt gene demonstrated by fluorescence-based carrier testing for spinal muscular atrophy

1 reference

12 December 2020

Analysis of the mRNA transcripts of the survival motor neuron (SMN) gene in the tissue of an SMA fetus and the peripheral blood mononuclear cells of normals, carriers and SMA patients

1 reference

12 December 2020

[Acute respiratory insufficiency as the initial clinical manifestation of spinal muscular atrophy]

1 reference

12 December 2020

Refinement of the spinal muscular atrophy locus to the interval between D5S435 and MAP1B

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

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

1 reference

12 December 2020

Arthrogryposis due to infantile neuronal degeneration associated with deletion of the SMNT gene

1 reference

12 December 2020

Arthrogryposis multiplex congenita

1 reference

12 December 2020

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

1 reference

Crossref

https://api.crossref.org/works/10.1016%2FS1525-1578%2810%2960680-0

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1016/S1525-1578(10)60680-0

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11826188%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11826188%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

1 reference