(Q35247811)

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Intragenic deletions in 21 Duchenne muscular dystrophy (DMD)/Becker muscular dystrophy (BMD) families studied with the dystrophin cDNA: location of breakpoints on HindIII and BglII exon-containing fragment maps, meiotic and mitotic origin of the mut

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Europe PubMed Central

PubMed publication ID

7 August 2017

Intragenic deletions in 21 Duchenne muscular dystrophy (DMD)/Becker muscular dystrophy (BMD) families studied with the dystrophin cDNA: location of breakpoints on HindIII and BglII exon-containing fragment maps, meiotic and mitotic origin of the mut (English)

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Europe PubMed Central

PubMed publication ID

7 August 2017

Duchenne muscular dystrophy

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author name string

Darras BT

1

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

Blattner P

2

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

Harper JF

3

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

Spiro AJ

4

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

Alter S

5

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Europe PubMed Central

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7 August 2017

Francke U

6

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7 August 2017

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publication date

1 November 1988

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Europe PubMed Central

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7 August 2017

American Journal of Human Genetics

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Europe PubMed Central

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7 August 2017

43

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Europe PubMed Central

PubMed publication ID

7 August 2017

5

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

620-629

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

Duchenne muscular dystrophy: Pathogenetic aspects and genetic prevention

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715543

27 July 2018

Molecular evidence for new mutation at the hprt locus in Lesch-Nyhan patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715543

27 July 2018

Duchenne and Becker muscular dystrophy mutations: analysis using 2.6 kb of muscle cDNA from the 5' end of the gene.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715543

27 July 2018

Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715543

27 July 2018

Cloning of a cDNA for steroid sulfatase: frequent occurrence of gene deletions in patients with recessive X chromosome-linked ichthyosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715543

27 July 2018

Isolation and characterization of a steroid sulfatase cDNA clone: genomic deletions in patients with X-chromosome-linked ichthyosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715543

27 July 2018

Estimation of the male to female ratio of mutation rates from the segregation of X-chromosomal DNA haplotypes in Duchenne muscular dystrophy families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715543

27 July 2018

Deletions of fetal and adult muscle cDNA in Duchenne and Becker muscular dystrophy patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715543

27 July 2018

An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715543

27 July 2018

Dystrophin: the protein product of the Duchenne muscular dystrophy locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715543

27 July 2018

The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715543

27 July 2018

Characterization of five partial deletions of the factor VIII gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715543

27 July 2018

Cloning and expression of steroid sulfatase cDNA and the frequent occurrence of deletions in STS deficiency: implications for X-Y interchange

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715543

27 July 2018

On the power to detect differences between male and female mutation rates for Duchenne muscular dystrophy, using classical segregation analysis and restriction fragment length polymorphisms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715543

27 July 2018

Hemophilia A. Detection of molecular defects and of carriers by DNA analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715543

27 July 2018

Detection and sequence of mutations in the factor VIII gene of haemophiliacs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715543

27 July 2018

Long-range genomic map of the Duchenne muscular dystrophy (DMD) gene: isolation and use of J66 (DXS268), a distal intragenic marker

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715543

27 July 2018

A partial deletion of the muscular dystrophy gene transmitted twice by an unaffected male

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715543

27 July 2018

Familial inheritance of a DXS164 deletion mutation from a heterozygous female

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715543

27 July 2018

Deletion of a DNA sequence in eight of nine families with X-linked ichthyosis (steroid sulphatase deficiency).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715543

27 July 2018

Congenital adrenal hypoplasia, myopathy, and glycerol kinase deficiency: molecular genetic evidence for deletions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715543

27 July 2018

Origin of new mutations in Duchenne muscular dystrophy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715543

27 July 2018

Germline mosaicism and Duchenne muscular dystrophy mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715543

15 November 2018

Duchenne muscular dystrophy: high frequency of deletions

1 reference

https://pubmed.ncbi.nlm.nih.gov/2903663

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Germinal mosaicism in Duchenne muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/2903663

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Direct method for prenatal diagnosis and carrier detection in Duchenne/Becker muscular dystrophy using the entire dystrophin cDNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/2903663

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A deletion hot spot in the Duchenne muscular dystrophy gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/2903663

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Further studies of gene deletions that cause Duchenne and Becker muscular dystrophies

1 reference

https://pubmed.ncbi.nlm.nih.gov/2903663

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mapping the disease phenotype

1 reference

https://pubmed.ncbi.nlm.nih.gov/2903663

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Localization and cloning of Xp21 deletion breakpoints involved in muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/2903663

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prenatal diagnosis and detection of carriers with DNA probes in Duchenne's muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/2903663

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Preferential deletion of exons in Duchenne and Becker muscular dystrophies

1 reference

https://pubmed.ncbi.nlm.nih.gov/2903663

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Direct detection of more than 50% of the Duchenne muscular dystrophy mutations by field inversion gels

1 reference

https://pubmed.ncbi.nlm.nih.gov/2903663

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Inherited deletion at Duchenne dystrophy locus in normal male

1 reference

https://pubmed.ncbi.nlm.nih.gov/2903663

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Effective strategy for prenatal prediction of Duchenne and Becker muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/2903663

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Toward a molecular understanding of ornithine transcarbamylase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/2903663

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

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