A common spinal muscular atrophy deletion mutation is present on a single founder haplotype in the US Hutterites (Q35303941)

7 August 2017

A common spinal muscular atrophy deletion mutation is present on a single founder haplotype in the US Hutterites (English)

1 reference

7 August 2017

spinal muscular atrophy

1 reference

1 reference

Jessica X Chong

1

0 references

Carole Ober

series ordinal

6

object named as

Carole Ober

1 reference

7 August 2017

4

Kathryn J Swoboda

1 reference

7 August 2017

A Afşin Oktay

2

1 reference

PubMed ID

21610747

7 August 2017

Zunyan Dai

series ordinal

3

1 reference

PubMed ID

21610747

7 August 2017

Thomas W Prior

series ordinal

5

1 reference

7 August 2017

25 May 2011

1 reference

European Journal of Human Genetics

7 August 2017

1 reference

7 August 2017

19

1 reference

7 August 2017

1045-1051

1 reference

7 August 2017

10

1 reference

https://scigraph.springernature.com/pub.10.1038/ejhg.2011.85

7 August 2017

0 references

cites work

Regularization Paths for Generalized Linear Models via Coordinate Descent

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190247

The cost-effectiveness of prenatal screening for spinal muscular atrophy

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190247

Perspectives and diagnostic considerations in spinal muscular atrophy

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190247

A positive modifier of spinal muscular atrophy in the SMN2 gene

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190247

Detection of sharing by descent, long-range phasing and haplotype imputation

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190247

Carrier screening for spinal muscular atrophy

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190247

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190247

Effect of variation in CHI3L1 on serum YKL-40 level, risk of asthma, and lung function

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190247

PLINK: a tool set for whole-genome association and population-based linkage analyses

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190247

Robust quantification of the SMN gene copy number by real-time TaqMan PCR.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190247

Testing for Hardy-Weinberg equilibrium in samples with related individuals

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190247

Evidence for a modifying pathway in SMA discordant families: reduced SMN level decreases the amount of its interacting partners and Htra2-beta1

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190247

Variation in the HLA-G Promoter Region Influences Miscarriage Rates

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190247

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190247

The genetic dissection of complex traits in a founder population

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190247

Htra2-beta 1 stimulates an exonic splicing enhancer and can restore full-length SMN expression to survival motor neuron 2 (SMN2)

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190247

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190247

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190247

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190247

Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190247

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190247

Genomic variation and gene conversion in spinal muscular atrophy: implications for disease process and clinical phenotype

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190247

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190247

De novo deletions in spinal muscular atrophy: implications for genetic counselling

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190247

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190247

Attitudes toward genetic testing of Amish, Mennonite, and Hutterite families with cystic fibrosis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190247

Differences in SMN1 allele frequencies among ethnic groups within North America

12 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.85

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.85

Clinical genetics and the Hutterite population: a review of Mendelian disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.85

Homozygous SMN1 deletions in unaffected family members and modification of the phenotype by SMN2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.85

Assessment of liquid microbead arrays for the screening of newborns for spinal muscular atrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.85

ACOG committee opinion No. 432: spinal muscular atrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.85

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.85

CFTR mutations and reproductive outcomes in a population isolate

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.85

Characterisation of SMN hybrid genes in Spanish SMA patients: de novo, homozygous and compound heterozygous cases

21 January 2018

1 reference

12 December 2020

De novo and inherited deletions of the 5q13 region in spinal muscular atrophies

1 reference

12 December 2020

The founder effect in a human isolate: Evolutionary implications

1 reference

12 December 2020

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

1 reference

12 December 2020

Newborn and carrier screening for spinal muscular atrophy

1 reference

12 December 2020

Characterization of survival motor neuron (SMNT) gene deletions in asymptomatic carriers of spinal muscular atrophy

1 reference

12 December 2020

Identifiers

DOI

10.1038/EJHG.2011.85

1 reference

7 August 2017

1 reference

7 August 2017

1 reference

PubMed ID

21610747