(Q41157386)

27 September 2017

title

Genotype-phenotype correlation and germline mosaicism in DMD/BMD patients with deletions of the dystrophin gene (English)

1 reference

genotype-phenotype correlation

12 December 2022

main subject

1 reference

chromosomal deletion syndrome

inferred from title

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1864612

12 December 2022

1 reference

12 December 2022

author name string

A. E. Covone

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1864612

12 December 2022

M. Lerone

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1864612

12 December 2022

G. Romeo

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1864612

12 December 2022

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1864612

12 December 2022

publication date

1 July 1991

1 reference

full work available at URL

27 September 2017

http://link.springer.com/content/pdf/10.1007/BF00200919.pdf

file format

Portable Document Format

1 reference

http://link.springer.com/article/10.1007/BF00200919/fulltext.html

12 December 2022

1 reference

http://link.springer.com/content/pdf/10.1007/BF00200919

12 December 2022

1 reference

12 December 2022

1 reference

27 September 2017

volume

87

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27 September 2017

issue

3

1 reference

27 September 2017

page(s)

353-360

1 reference

https://scigraph.springernature.com/pub.10.1007/bf00200919

27 September 2017

exact match

0 references

cites work

Possibilities and limitation of prenatal diagnosis and carrier determination for Duchenne and Becker muscular dystrophy using cDNA probes

1 reference

12 December 2020

Gene deletions in X-linked muscular dystrophy

1 reference

12 December 2020

Analysis of molecular deletions with cDNA probes in patients with Duchenne and Becker muscular dystrophies

1 reference

12 December 2020

Review and hypotheses: somatic mosaicism: observations related to clinical genetics

1 reference

12 December 2020

The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion

1 reference

12 December 2020

Clinical investigation in duchenne dystrophy: 2. Determination of the ?power? of therapeutic trials based on the natural history

1 reference

12 December 2020

Germinal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutations

1 reference

12 December 2020

Alternative splicing of human dystrophin mRNA generates isoforms at the carboxy terminus

1 reference

12 December 2020

A deletion hot spot in the Duchenne muscular dystrophy gene

1 reference

12 December 2020

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

"A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity". Addendum

1 reference

12 December 2020

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

1 reference

12 December 2020

Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification

1 reference

12 December 2020

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

1 reference

12 December 2020

The chicken dystrophin cDNA: striking conservation of the C-terminal coding and 3' untranslated regions between man and chicken

1 reference

12 December 2020

A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

1 reference

12 December 2020

Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications

1 reference

12 December 2020

Clinical concepts of Duchenne muscular dystrophy. The impact of molecular genetics

1 reference

12 December 2020

Cloning of the Duchenne/Becker muscular dystrophy locus

1 reference

12 December 2020

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

1 reference

12 December 2020

Frame-shift deletions in patients with Duchenne and Becker muscular dystrophy

1 reference

12 December 2020

Molecular and phenotypic analysis of patients with deletions within the deletion-rich region of the Duchenne muscular dystrophy (DMD) gene

1 reference

12 December 2020

Dystrophin: the protein product of the Duchenne muscular dystrophy locus

1 reference

12 December 2020

Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy

1 reference

12 December 2020

Germline mosaicism and Duchenne muscular dystrophy mutations

1 reference

12 December 2020

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

1 reference

12 December 2020

Prenatal testing for Duchenne and Becker muscular dystrophy

1 reference

12 December 2020

Molecular and clinical correlations of deletions leading to Duchenne and Becker muscular dystrophies

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00200919

1 reference

Dimensions Publication ID

27 September 2017

1009192273

0 references

1 reference