(Q34443974)

English

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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scholarly article

1 reference

Europe PubMed Central

2 August 2017

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

1 reference

Europe PubMed Central

2 August 2017

0 references

spinal muscular atrophy

1 reference

based on heuristic

inferred from title

muscular atrophy

1 reference

based on heuristic

inferred from title

Brunhilde Wirth

1 reference

ORCID Public Data File 2021

author name string

Wirth B

1

1 reference

Europe PubMed Central

2 August 2017

Schmidt T

2

1 reference

Europe PubMed Central

2 August 2017

Hahnen E

3

1 reference

Europe PubMed Central

2 August 2017

Rudnik-Schöneborn S

4

1 reference

Europe PubMed Central

2 August 2017

Krawczak M

5

1 reference

Europe PubMed Central

2 August 2017

Müller-Myhsok B

6

1 reference

Europe PubMed Central

2 August 2017

Schönling J

7

1 reference

Europe PubMed Central

2 August 2017

Zerres K

8

1 reference

Europe PubMed Central

2 August 2017

language of work or name

0 references

publication date

1 November 1997

1 reference

Europe PubMed Central

2 August 2017

American Journal of Human Genetics

1 reference

Europe PubMed Central

2 August 2017

61

1 reference

Europe PubMed Central

2 August 2017

1102-1111

1 reference

Europe PubMed Central

2 August 2017

5

1 reference

Europe PubMed Central

2 August 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716038

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716038

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716038

6 July 2018

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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716038

6 July 2018

De novo deletions in spinal muscular atrophy: implications for genetic counselling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716038

6 July 2018

The gene encoding p44, a subunit of the transcription factor TFIIH, is involved in large-scale deletions associated with Werdnig-Hoffmann disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716038

6 July 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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716038

6 July 2018

Apparent autosomal recessive inheritance in families with proximal spinal muscular atrophy affecting individuals in two generations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716038

6 July 2018

Hybrid survival motor neuron genes in patients with autosomal recessive spinal muscular atrophy: new insights into molecular mechanisms responsible for the disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716038

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716038

6 July 2018

Apparent gene conversions involving the SMN gene in the region of the spinal muscular atrophy locus on chromosome 5

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716038

6 July 2018

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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716038

6 July 2018

Exclusive paternal origin of new mutations in Apert syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716038

6 July 2018

Prevalence and origin of de novo duplications in Charcot-Marie-Tooth disease type 1A: first report of a de novo duplication with a maternal origin.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716038

6 July 2018

Association between Ag1-CA alleles and severity of autosomal recessive proximal spinal muscular atrophy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716038

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716038

6 July 2018

Identification and characterization of a spinal muscular atrophy-determining gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716038

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716038

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716038

6 July 2018

Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716038

6 July 2018

Cystic fibrosis heterozygote resistance to cholera toxin in the cystic fibrosis mouse model

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716038

6 July 2018

Asymmetry in chromosome pairing: a major factor in de novo mutation and the production of genetic disease in man

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716038

6 July 2018

Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716038

6 July 2018

A multicopy dinucleotide marker that maps close to the spinal muscular atrophy gene.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716038

27 October 2018

Large linkage analysis in 100 families with autosomal recessive spinal muscular atrophy (SMA) and 11 CEPH families using 15 polymorphic loci in the region 5q11.2-q13.3.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716038

27 October 2018

De novo deletions of the 5q13 region and prenatal diagnosis of spinal muscular atrophy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716038

27 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716038

27 October 2018

Origin of the de novo duplication in Charcot — Marie — Tooth disease type 1A: unequal nonsister chromatid exchange during spermatogenesis

1 reference

https://pubmed.ncbi.nlm.nih.gov/9345102

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prenatal prediction in families with autosomal recessive proximal spinal muscular atrophy (5q11.2-q13.3): molecular genetics and clinical experience in 109 cases

1 reference

https://pubmed.ncbi.nlm.nih.gov/9345102

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Allelic association and deletions in autosomal recessive proximal spinal muscular atrophy: association of marker genotype with disease severity and candidate cDNAs

1 reference

https://pubmed.ncbi.nlm.nih.gov/9345102

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals

1 reference

https://pubmed.ncbi.nlm.nih.gov/9345102

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detection of a de novo R1066H mutation in an Italian patient affected by cystic fibrosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/9345102

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deletion analysis of the simple tandem repeat loci physically linked to the spinal muscular atrophy locus

1 reference

https://pubmed.ncbi.nlm.nih.gov/9345102

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q

1 reference

https://pubmed.ncbi.nlm.nih.gov/9345102

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic homogeneity between acute and chronic forms of spinal muscular atrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/9345102

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12-q14

1 reference

https://pubmed.ncbi.nlm.nih.gov/9345102

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A de Novo cystic fibrosis mutation: CGA (Arg) to TGA (stop) at codon 851 of the CFTR gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/9345102

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A de novo case of hereditary neuropathy with liability to pressure palsies (HNPP) of maternal origin: a new mechanism for deletion in 17p11.2?

1 reference

https://pubmed.ncbi.nlm.nih.gov/9345102

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9345102

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9345102

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deletion and conversion in spinal muscular atrophy patients: is there a relationship to severity?

1 reference

https://pubmed.ncbi.nlm.nih.gov/9345102

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9345102

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

1 reference

Europe PubMed Central

2 August 2017

1 reference

Europe PubMed Central

2 August 2017

1 reference

Europe PubMed Central

2 August 2017

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