(Q38299774)

1 September 2017

title

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

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1 September 2017

Ilsa Gómez-Curet

1

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1 September 2017

Karyn G Robinson

2

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1 September 2017

Vicky L Funanage

3

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1 September 2017

Thomas O Crawford

4

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1 September 2017

Mena Scavina

5

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1 September 2017

Wenlan Wang

6

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1 September 2017

publication date

24 July 2007

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1 September 2017

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1 September 2017

volume

8

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1 September 2017

issue

4

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1 September 2017

page(s)

271-278

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Carrier incidence for spinal muscular atrophy in southern Chinese

1 September 2017

cites work

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Crossref

https://api.crossref.org/works/10.1007%2FS10048-007-0093-1

Heteroduplex formation in SMN gene dosage analysis

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10048-007-0093-1

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

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10048-007-0093-1

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

21 January 2018

1 reference

12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Genetic risk assessment in carrier testing for spinal muscular atrophy

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12 December 2020

Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

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12 December 2020

Quantitative analysis of SMN1 gene and estimation of SMN1 deletion carrier frequency in Korean population based on real-time PCR

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12 December 2020

The gene frequency of acute Werdnig-Hoffmann disease (SMA type 1). A total population survey in North-East England

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Increased susceptibility of spinal muscular atrophy fibroblasts to camptothecin-induced cell death

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12 December 2020

Valproic acid increases the SMN2 protein level: a well-known drug as a potential therapy for spinal muscular atrophy

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12 December 2020

Determination of SMN1 and SMN2 copy number using TaqMan technology

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12 December 2020

Correlation between severity and SMN protein level in spinal muscular atrophy

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12 December 2020

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

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12 December 2020

Aclarubicin treatment restores SMN levels to cells derived from type I spinal muscular atrophy patients

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12 December 2020

When Is a Deletion Not a Deletion? When It Is Converted

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12 December 2020

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

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12 December 2020

Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy.

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12 December 2020

Determination of Gene Dosage by a Quantitative Adaptation of the Polymerase Chain Reaction (gd-PCR): Rapid Detection of Deletions and Duplications of Gene Sequences

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12 December 2020

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

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12 December 2020

Proteolipoprotein gene analysis in 82 patients with sporadic Pelizaeus-Merzbacher Disease: duplications, the major cause of the disease, originate more frequently in male germ cells, but point mutations do not. The Clinical European Network on Brain

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12 December 2020

Treatment of spinal muscular atrophy by sodium butyrate

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12 December 2020

Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number

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12 December 2020

The survival motor neuron protein in spinal muscular atrophy

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12 December 2020

Population frequencies of inherited neuromuscular diseases—A world survey

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12 December 2020

A feasibility study for the newborn screening of spinal muscular atrophy.

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12 December 2020

Valproic acid increases SMN levels in spinal muscular atrophy patient cells.

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12 December 2020

Identification and characterization of a spinal muscular atrophy-determining gene

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12 December 2020

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

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12 December 2020

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

12 December 2020

10.1007/S10048-007-0093-1

Identifiers

DOI

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1 September 2017

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