(Q80058647)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17392705%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

title

Population screening and cascade testing for carriers of SMA (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17392705%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

author name string

Melanie Smith

1

1 reference

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28 December 2019

Vanessa Calabro

2

1 reference

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28 December 2019

Belinda Chong

3

1 reference

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28 December 2019

Nicole Gardiner

4

1 reference

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28 December 2019

Shannon Cowie

5

1 reference

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28 December 2019

Desirée du Sart

6

1 reference

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28 December 2019

publication date

28 March 2007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17392705%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

28 December 2019

published in

1 reference

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28 December 2019

volume

15

1 reference

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28 December 2019

issue

7

1 reference

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28 December 2019

page(s)

759-766

1 reference

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https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201821

28 December 2019

exact match

0 references

cites work

Classification of spinal muscular atrophies

1 reference

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7 January 2021

Identification and characterization of a spinal muscular atrophy-determining gene

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201821

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.5201821

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.5201821

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201821

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.5201821

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.5201821

7 January 2021

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

1 reference

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7 January 2021

Spinal muscular atrophy: molecular genetics and diagnostics.

1 reference

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7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201821

7 January 2021

Best practice guidelines for molecular analysis in spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201821

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.5201821

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.5201821

7 January 2021

Determination of SMN1 and SMN2 copy number using TaqMan technology

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201821

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.5201821

7 January 2021

Genetic risk assessment in carrier testing for spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201821

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201821

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.5201821

7 January 2021

Carrier incidence for spinal muscular atrophy in southern Chinese

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201821

7 January 2021

Maternal mosaicism for a second mutational event in a type I spinal muscular atrophy family

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201821

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201821

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.5201821

7 January 2021

SMN dosage analysis and risk assessment for spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201821

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.5201821

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201821

7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5201821

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17392705%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

1 reference