(Q38308486)

English

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

scientific article published on September 2000

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scholarly article

1 reference

Europe PubMed Central

2 September 2017

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

1 reference

Europe PubMed Central

2 September 2017

author name string

Gérard B

1

1 reference

Europe PubMed Central

2 September 2017

Ginet N

2

1 reference

Europe PubMed Central

2 September 2017

Matthijs G

3

1 reference

Europe PubMed Central

2 September 2017

Evrard P

4

1 reference

Europe PubMed Central

2 September 2017

Baumann C

5

1 reference

Europe PubMed Central

2 September 2017

Da Silva F

6

1 reference

Europe PubMed Central

2 September 2017

Gérard-Blanluet M

7

1 reference

Europe PubMed Central

2 September 2017

Mayer M

8

1 reference

Europe PubMed Central

2 September 2017

Grandchamp B

9

1 reference

Europe PubMed Central

2 September 2017

Elion J

10

1 reference

Europe PubMed Central

2 September 2017

publication date

1 September 2000

1 reference

Europe PubMed Central

2 September 2017

1 reference

Europe PubMed Central

2 September 2017

16

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Europe PubMed Central

2 September 2017

3

1 reference

Europe PubMed Central

2 September 2017

253-263

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Europe PubMed Central

2 September 2017

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

1 reference

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21 January 2018

Survival motor neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association

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21 January 2018

A frame–shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients

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21 January 2018

Genomic variation and gene conversion in spinal muscular atrophy: implications for disease process and clinical phenotype

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21 January 2018

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

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21 January 2018

The survival motor neuron protein in spinal muscular atrophy

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21 January 2018

Clinical and molecular genetic features of congenital spinal muscular atrophy.

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21 January 2018

Spinal muscular atrophy due to an isolated deletion of exon 8 of the telomeric survival motor neuron gene.

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21 January 2018

Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients.

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21 January 2018

Deletion mapping indicates that MTS1 is the target of frequent deletions at chromosome 9p21 in paediatric acute lymphoblastic leukaemias.

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21 January 2018

A mouse model for spinal muscular atrophy

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21 January 2018

Congenital axonal neuropathy caused by deletions in the spinal muscular atrophy region.

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21 January 2018

Identification and characterization of a spinal muscular atrophy-determining gene

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21 January 2018

Correlation between severity and SMN protein level in spinal muscular atrophy

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21 January 2018

Unusual molecular findings in autosomal recessive spinal muscular atrophy

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21 January 2018

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

1 reference

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21 January 2018

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

1 reference

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21 January 2018

An 11 base pair duplication in exon 6 of the SMN gene produces a type I spinal muscular atrophy (SMA) phenotype: further evidence for SMN as the primary SMA-determining gene.

1 reference

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21 January 2018

Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number.

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21 January 2018

The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy

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21 January 2018

Clinical spectrum and diagnostic criteria of infantile spinal muscular atrophy: further delineation on the basis of SMN gene deletion findings.

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21 January 2018

Epidemiological data on Werdnig-Hoffmann disease in Germany (West-Thüringen).

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21 January 2018

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

1 reference

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21 January 2018

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

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21 January 2018

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

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21 January 2018

SMN gene deletion in variant of infantile spinal muscular atrophy

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21 January 2018

The role of the SMN gene in proximal spinal muscular atrophy

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21 January 2018

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

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21 January 2018

Classification of spinal muscular atrophies

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21 January 2018

Molecular diagnosis of non-deletion SMA patients using quantitative PCR of SMN exon 7

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21 January 2018

Quantification, by solid-phase minisequencing, of the telomeric and centromeric copies of the survival motor neuron gene in families with spinal muscular atrophy

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21 January 2018

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

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21 January 2018

PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy

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21 January 2018

Identifiers

10.1002/1098-1004(200009)16:3<253::AID-HUMU8>3.0.CO;2-8

1 reference

Europe PubMed Central

2 September 2017

1 reference

Europe PubMed Central

2 September 2017

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