Determination of SMN1 and SMN2 copy number using TaqMan technology (Q40580194)

21 September 2017

Determination of SMN1 and SMN2 copy number using TaqMan technology (English)

1 reference

21 September 2017

Dirk Anhuf

1

1 reference

21 September 2017

Thomas Eggermann

series ordinal

2

1 reference

21 September 2017

Sabine Rudnik-Schöneborn

series ordinal

3

1 reference

21 September 2017

Klaus Zerres

series ordinal

4

1 reference

21 September 2017

1 July 2003

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21 September 2017

1 reference

21 September 2017

22

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21 September 2017

1

1 reference

21 September 2017

74-78

1 reference

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

21 September 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10221

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10221

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/10.1002%2FHUMU.10221

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10221

Identification and characterization of a spinal muscular atrophy-determining gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10221

SMN dosage analysis and risk assessment for spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10221

Detection of heterozygous SMN1 deletions in SMA families using a simple fluorescent multiplex PCR method

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10221

Best practice guidelines for molecular analysis in spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10221

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/10.1002%2FHUMU.10221

Parents of children with spinal muscular atrophy are not obligate carriers: Carrier testing is important for reproductive decision-making

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10221

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10221

7 January 2021

THE USE OF CONFIDENCE OR FIDUCIAL LIMITS ILLUSTRATED IN THE CASE OF THE BINOMIAL

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10221

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/10.1002%2FHUMU.10221

7 January 2021

3'-minor groove binder-DNA probes increase sequence specificity at PCR extension temperatures

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10221

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10221

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/10.1002%2FHUMU.10221

7 January 2021

A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10221

7 January 2021

International SMA consortium meeting. (26-28 June 1992, Bonn, Germany)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10221

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10221

7 January 2021

SMA carrier testing – validation of hemizygous SMN exon 7 deletion test for the identification of proximal spinal muscular atrophy carriers and patients with a single allele deletion

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10221

7 January 2021

Diagnosis of haploidy and triploidy based on measurement of gene copy number by real-time PCR

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10221

7 January 2021

Natural history in proximal spinal muscular atrophy. Clinical analysis of 445 patients and suggestions for a modification of existing classifications

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10221

7 January 2021

Identifiers

DOI

10.1002/HUMU.10221

1 reference

21 September 2017

1 reference