De novo rearrangements found in 2% of index patients with spinal muscular atrophy: mutational mechanisms, parental origin, mutation rate, and implications for genetic counseling (Q34443974)

From Wikidata

Jump to navigation Jump to search

scientific article

Language	Label	Description	Also known as
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	scientific article

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

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

PubMed publication ID

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

PubMed publication ID

2 August 2017

Schmidt T

2

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Hahnen E

3

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Rudnik-Schöneborn S

4

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Krawczak M

5

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Müller-Myhsok B

6

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Schönling J

7

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Zerres K

8

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

language of work or name

0 references

publication date

1 November 1997

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

American Journal of Human Genetics

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

61

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

5

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

1102-1111

1 reference

Europe PubMed Central

PubMed publication ID

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

PubMed publication ID

2 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

ResearchGate publication ID

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q34443974&oldid=1982237255"