(Q37827961)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21227388%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

title

Population carrier screening for spinal muscular atrophy a position statement of the association for molecular pathology (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21227388%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

main subject

pathology

0 references

spinal muscular atrophy

1 reference

1 reference

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21227388%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

author name string

Kasinathan Muralidharan

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21227388%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Robert B Wilson

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21227388%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Narasimhan Nagan

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21227388%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Christine Curtis

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21227388%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Iris Schrijver

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21227388%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

publication date

23 December 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21227388%20AND%20SRC:MED&resulttype=core&format=json

The Journal of Molecular Diagnostics

19 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21227388%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

volume

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21227388%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21227388%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

page(s)

3-6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21227388%20AND%20SRC:MED&resulttype=core&format=json

Perspectives and diagnostic considerations in spinal muscular atrophy

19 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069864

A positive modifier of spinal muscular atrophy in the SMN2 gene

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069864

Carrier screening for spinal muscular atrophy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069864

Spinal muscular atrophy: molecular genetics and diagnostics.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069864

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069864

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069864

Differences in SMN1 allele frequencies among ethnic groups within North America

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069864

ACOG committee opinion No. 432: spinal muscular atrophy

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069864

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

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069864

New insights on the evolution of the SMN1 and SMN2 region: simulation and meta-analysis for allele and haplotype frequency calculations

1 September 2018

1 reference

12 December 2020

Spinal muscular atrophy.

1 reference

12 December 2020

Carrier frequency of spinal muscular atrophy

1 reference

12 December 2020

Grading quality of evidence and strength of recommendations for diagnostic tests and strategies

1 reference

12 December 2020

Newborn and carrier screening for spinal muscular atrophy

1 reference

12 December 2020

10.1016/J.JMOLDX.2010.11.012

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21227388%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21227388%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

PubMed publication ID

21227388

1 reference