(Q80833713)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15470363%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

meta-analysis

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title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15470363%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

1 reference

1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15470363%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

author name string

Robert B Wilson

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15470363%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

Bert Gold

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15470363%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

publication date

1 December 2004

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15470363%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

3 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15470363%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

volume

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15470363%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

issue

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15470363%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

page(s)

1015-1023

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15470363%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201288

3 January 2020

exact match

0 references

cites work

Genetic risk assessment in carrier testing for spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201288

7 January 2021

Identification and characterization of a spinal muscular atrophy-determining gene

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201288

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201288

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201288

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201288

7 January 2021

A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201288

7 January 2021

Spinal muscular atrophy: molecular genetics and diagnostics.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201288

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201288

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201288

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201288

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201288

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201288

7 January 2021

Structural dynamics of eukaryotic chromosome evolution

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201288

7 January 2021

Genome-wide detection of segmental duplications and potential assembly errors in the human genome sequence

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201288

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201288

7 January 2021

SMN dosage analysis and risk assessment for spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201288

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201288

7 January 2021

Quantification of PCR bias caused by a single nucleotide polymorphism in SMN gene dosage analysis.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201288

7 January 2021

Heteroduplex formation in SMN gene dosage analysis

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201288

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201288

7 January 2021

Abnormal SMN1 gene copy number is a susceptibility factor for amyotrophic lateral sclerosis

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201288

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201288

7 January 2021

Determination of SMN1 and SMN2 copy number using TaqMan technology

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201288

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201288

7 January 2021

Genotype determination at the survival motor neuron locus in a normal population and SMA carriers using competitive PCR and primer extension

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201288

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201288

7 January 2021

Detection of the survival motor neuron (SMN) genes by FISH: further evidence for a role for SMN2 in the modulation of disease severity in SMA patients

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201288

7 January 2021

A New Statistical Method for Haplotype Reconstruction from Population Data

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201288

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201288

7 January 2021

Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201288

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201288

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201288

7 January 2021

Animal models of spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201288

7 January 2021

Detecting recent positive selection in the human genome from haplotype structure

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201288

7 January 2021

Rates of nucleotide substitution in primates and rodents and the generation-time effect hypothesis

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201288

7 January 2021

When it comes to evolution, humans are in the slow class

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201288

7 January 2021

SMN gene duplication and the emergence of the SMN2 gene occurred in distinct hominids: SMN2 is unique to Homo sapiens.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201288

7 January 2021

Direct estimates of human per nucleotide mutation rates at 20 loci causing Mendelian diseases

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201288

7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5201288

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15470363%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

1 reference