Molecular analysis of SMA patients without homozygous SMN1 deletions using a new strategy for identification of SMN1 subtle mutations (Q48170209)

9 February 2018

title

Molecular analysis of SMA patients without homozygous SMN1 deletions using a new strategy for identification of SMN1 subtle mutations (English)

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9 February 2018

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6

Arnold Munnich

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9 February 2018

Olivier Clermont

1

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9 February 2018

Philippe Burlet

2

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9 February 2018

Paule Benit

3

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9 February 2018

Dominique Chanterau

4

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9 February 2018

Pascale Saugier-Veber

5

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9 February 2018

Veronica Cusin

7

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9 February 2018

publication date

1 November 2004

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9 February 2018

published in

Human Mutation

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9 February 2018

volume

24

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9 February 2018

issue

5

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9 February 2018

page(s)

417-427

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9 February 2018

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

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20092

Mutation analysis of the hamartin gene using denaturing high performance liquid chromatography

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20092

7 January 2021

The RNA-binding properties of SMN: deletion analysis of the zebrafish orthologue defines domains conserved in evolution

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20092

7 January 2021

Frameshift mutation in the survival motor neuron gene in a severe case of SMA type I

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20092

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20092

7 January 2021

Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20092

7 January 2021

The distribution of SMN protein complex in human fetal tissues and its alteration in spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20092

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20092

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/10.1002%2FHUMU.20092

7 January 2021

SMN gene deletions in adult-onset spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20092

7 January 2021

Hereditary nonpolyposis colorectal cancer families not complying with the Amsterdam criteria show extremely low frequency of mismatch-repair-gene mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20092

7 January 2021

A genetic and phenotypic analysis in Spanish spinal muscular atrophy patients with c.399_402del AGAG, the most frequently found subtle mutation in the SMN1 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20092

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/10.1002%2FHUMU.20092

7 January 2021

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20092

7 January 2021

Optimization of a simple and rapid single-strand conformation analysis for detection of mutations in the PROS1 gene: identification of seven novel mutations and three novel, apparently neutral, variants

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20092

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/10.1002%2FHUMU.20092

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20092

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20092

7 January 2021

Frequent DNA variant in exon 2a of the survival motor neuron gene (SMN): a further possibility for distinguishing the two copies of the gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20092

7 January 2021

Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20092

7 January 2021

Htra2-beta 1 stimulates an exonic splicing enhancer and can restore full-length SMN expression to survival motor neuron 2 (SMN2)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20092

7 January 2021

A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20092

7 January 2021

Identification and characterization of a spinal muscular atrophy-determining gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20092

7 January 2021

Correlation between severity and SMN protein level in spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20092

7 January 2021

SMN oligomerization defect correlates with spinal muscular atrophy severity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20092

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20092

7 January 2021

Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20092

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.20092

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20092

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20092

7 January 2021

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20092

7 January 2021

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

https://api.crossref.org/works/10.1002%2FHUMU.20092

7 January 2021

Diagnosis of spinal muscular atrophy in an SMN non-deletion patient using a quantitative PCR screen and mutation analysis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20092

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20092

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.20092

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20092

7 January 2021

Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20092

7 January 2021

Characterisation of novel point mutations in the survival motor neuron gene SMN, in three patients with SMA

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20092

7 January 2021

Premature termination mutations in exon 3 of the SMN1 gene are associated with exon skipping and a relatively mild SMA phenotype.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20092

7 January 2021

Definition of domain boundaries and crystallization of the SMN Tudor domain

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20092

7 January 2021

Missense mutation clustering in the survival motor neuron gene: a role for a conserved tyrosine and glycine rich region of the protein in RNA metabolism?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20092

7 January 2021

Characterization of a gene encoding survival motor neuron (SMN)-related protein, a constituent of the spliceosome complex

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20092

7 January 2021

Detection of numerous Y chromosome biallelic polymorphisms by denaturing high-performance liquid chromatography

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20092

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20092

7 January 2021

Characterization of survival motor neuron (SMNT) gene deletions in asymptomatic carriers of spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20092

7 January 2021

Identification of a novel missense mutation of the SMN(T) gene in two siblings with spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20092

7 January 2021

Detecting single base substitutions as heteroduplex polymorphisms

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20092

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/10.1002%2FHUMU.20092

7 January 2021

The exon 2b region of the spinal muscular atrophy protein, SMN, is involved in self-association and SIP1 binding

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20092

7 January 2021

Identifiers

DOI

10.1002/HUMU.20092

1 reference

9 February 2018

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9 February 2018