(Q43066729)

13 November 2017

Differences in SMN1 allele frequencies among ethnic groups within North America (English)

1 reference

13 November 2017

B C Hendrickson

1

1 reference

13 November 2017

C Donohoe

2

1 reference

13 November 2017

V R Akmaev

3

1 reference

13 November 2017

E A Sugarman

4

1 reference

13 November 2017

P Labrousse

5

1 reference

13 November 2017

L Boguslavskiy

6

1 reference

13 November 2017

K Flynn

7

1 reference

13 November 2017

E M Rohlfs

8

1 reference

13 November 2017

A Walker

9

1 reference

13 November 2017

B Allitto

10

1 reference

13 November 2017

C Sears

11

1 reference

13 November 2017

T Scholl

12

1 reference

13 November 2017

language of work or name

English

0 references

publication date

21 July 2009

1 reference

Journal of Medical Genetics

13 November 2017

1 reference

13 November 2017

46

1 reference

13 November 2017

9

1 reference

13 November 2017

641-644

1 reference

Carrier screening for spinal muscular atrophy

13 November 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2729371

Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2729371

Determination of SMN1 and SMN2 copy number using TaqMan technology

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2729371

Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2729371

Spinal muscular atrophy genetic testing experience at an academic medical center.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2729371

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2729371

Hybrids monosomal for human chromosome 5 reveal the presence of a spinal muscular atrophy (SMA) carrier with two SMN1 copies on one chromosome

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2729371

A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2729371

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2729371

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2729371

Identification and characterization of a spinal muscular atrophy-determining gene

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2729371

Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2729371

Quantitative studies on SMN1 gene and carrier testing of spinal muscular atrophy.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2729371

The molecular basis of spinal muscular atrophy (SMA) in South African black patients.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2729371

A feasibility study for the newborn screening of spinal muscular atrophy.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2729371

Quantitative analysis of SMN1 and SMN2 genes based on DHPLC: a highly efficient and reliable carrier-screening test.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2729371

Carrier incidence for spinal muscular atrophy in southern Chinese

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2729371

Prevalence of SMN1 deletion and duplication in carrier and normal populations: implication for genetic counselling

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2729371

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

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2729371

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

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2729371

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

15 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19625283

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19625283

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Population screening and cascade testing for carriers of SMA

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19625283

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.2009.066969

1 reference

13 November 2017

1 reference

13 November 2017

1 reference