(Q47996236)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12673282%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

title

Inverse correlation between SMN1 and SMN2 copy numbers: evidence for gene conversion from SMN2 to SMN1 (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12673282%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

1

1 reference

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2 November 2019

author name string

Sizhen Gao

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12673282%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

Debra G B Leonard

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12673282%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

Michele Paessler

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12673282%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

Robert B Wilson

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12673282%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

publication date

1 March 2003

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12673282%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

2 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12673282%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

volume

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12673282%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12673282%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

page(s)

275-277

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12673282%20AND%20SRC:MED&resulttype=core&format=json

Identification and characterization of a spinal muscular atrophy-determining gene

2 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200957

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200957

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200957

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200957

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200957

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200957

Heteroduplex formation in SMN gene dosage analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200957

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200957

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200957

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200957

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200957

Molecular analysis of the SMN and NAIP genes in Spanish spinal muscular atrophy (SMA) families and correlation between number of copies of cBCD541 and SMA phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200957

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200957

7 January 2021

Correlation of SMNt and SMNc gene copy number with age of onset and survival in spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200957

7 January 2021

Genetic risk assessment in carrier testing for spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200957

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200957

7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5200957

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12673282%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

1 reference