Molecular genetic analysis of 67 patients with Duchenne/Becker muscular dystrophy (Q41099713)

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scientific article published on September 1992

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English	Molecular genetic analysis of 67 patients with Duchenne/Becker muscular dystrophy	scientific article published on September 1992

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scholarly article

1 reference

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Europe PubMed Central

PubMed publication ID

1427789

retrieved

26 September 2017

title

Molecular genetic analysis of 67 patients with Duchenne/Becker muscular dystrophy (English)

1 reference

stated in

Europe PubMed Central

PubMed publication ID

1427789

retrieved

26 September 2017

author

Ryszard Słomski

object named as

R Slomski

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2

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ORCID Public Data File 2021

author name string

S Niemann-Seyde

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1

1 reference

stated in

Europe PubMed Central

PubMed publication ID

1427789

retrieved

26 September 2017

F Rininsland

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3

1 reference

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Europe PubMed Central

PubMed publication ID

1427789

retrieved

26 September 2017

U Ellermeyer

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4

1 reference

stated in

Europe PubMed Central

PubMed publication ID

1427789

retrieved

26 September 2017

J Kwiatkowska

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5

1 reference

stated in

Europe PubMed Central

PubMed publication ID

1427789

retrieved

26 September 2017

J Reiss

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6

1 reference

stated in

Europe PubMed Central

PubMed publication ID

1427789

retrieved

26 September 2017

publication date

1 September 1992

1 reference

stated in

Europe PubMed Central

PubMed publication ID

1427789

retrieved

26 September 2017

published in

Human Genetics

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stated in

Europe PubMed Central

PubMed publication ID

1427789

retrieved

26 September 2017

volume

90

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Europe PubMed Central

PubMed publication ID

1427789

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26 September 2017

issue

1-2

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Europe PubMed Central

PubMed publication ID

1427789

retrieved

26 September 2017

page(s)

65-70

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Europe PubMed Central

PubMed publication ID

1427789

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26 September 2017

cites work

Gene deletions in X-linked muscular dystrophy

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1427789

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of a new DMD gene deletion by ectopic transcript analysis

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1427789

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Accurate assessment of intragenic recombination frequency within the Duchenne muscular dystrophy gene

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1427789

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rapid detection of deletions in the Duchenne muscular dystrophy gene by PCR amplification of deletion-prone exon sequences

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1427789

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1427789

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1427789

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1427789

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Segregation analysis of 1885 DMD families: significant departure from the expected proportion of sporadic cases

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1427789

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Direct carrier detection by in situ suppression hybridization with cosmid clones of the Duchenne/Becker muscular dystrophy locus

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1427789

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1427789

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1427789

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1427789

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1427789

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Point mutation in the human dystrophin gene: identification through western blot analysis

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1427789

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1427789

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Illegitimate transcription. Application to the analysis of truncated transcripts of the dystrophin gene in nonmuscle cultured cells from Duchenne and Becker patients

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1427789

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rapid carrier and prenatal diagnosis of Duchenne and Becker muscular dystrophy

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1427789

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Single-strand conformation polymorphism (SSCP) analysis of exon 11 of the CFTR gene reliably detects more than one third of non-?F508 mutations in German cystic fibrosis patients

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1427789

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of pathological dystrophin transcripts from the lymphocytes of a muscular dystrophy carrier

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1427789

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Easy calculations of lod scores and genetic risks on small computers

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1427789

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Duplicational mutation at the Duchenne muscular dystrophy locus: its frequency, distribution, origin, and phenotypegenotype correlation

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1427789

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Population frequencies of inherited neuromuscular diseases—A world survey

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1427789

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sporadic cases in Duchenne muscular dystrophy. A reappraisal through segregation analysis on 988 sibships

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1427789

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Direct detection of dystrophin gene rearrangements by analysis of dystrophin mRNA in peripheral blood lymphocytes

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1427789

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1427789

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1007/BF00210746

1 reference

stated in

Europe PubMed Central

PubMed publication ID

1427789

retrieved

26 September 2017

Dimensions Publication ID

1022789701

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Fatcat ID

release_dtx2eybhlzewdnshv3lhbekbza

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Fatcat

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https://api.fatcat.wiki/v0/release/dtx2eybhlzewdnshv3lhbekbza

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24 November 2022

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PubMed publication ID

1427789

1 reference

stated in

Europe PubMed Central

PubMed publication ID

1427789

retrieved

26 September 2017

 

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