(Q52862565)

9 May 2018

title

Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene: a European study. (English)

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9 May 2018

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A J van Essen

1

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S Abbs

2

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M Baiget

3

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E Bakker

4

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C Boileau

5

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C van Broeckhoven

6

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K Bushby

7

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A Clarke

8

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M Claustres

9

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A E Covone

10

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publication date

1 January 1992

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9 May 2018

published in

Human Genetics

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volume

88

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page(s)

249-257

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issue

3

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9 May 2018

New mutations in Duchenne muscular dystrophy

cites work

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12 December 2020

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

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12 December 2020

Prevalence and incidence of Becker muscular dystrophy

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12 December 2020

The parental origin of mutations causing Duchenne muscular dystrophy

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12 December 2020

Evidence for mutation by unequal sister chromatid exchange in the Duchenne muscular dystrophy gene

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12 December 2020

Multipoint linkage analysis of the short arm of the human X chromosome in families with X-linked muscular dystrophy

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12 December 2020

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

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12 December 2020

Origin of new mutations in Duchenne muscular dystrophy.

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12 December 2020

Prenatal diagnosis of Duchenne muscular dystrophy: a three-year experience in a rapidly evolving field

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12 December 2020

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

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12 December 2020

The occurrence of new mutants in the X-linked recessive Lesch-Nyhan disease

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12 December 2020

Molecular deletion patterns in Duchenne and Becker type muscular dystrophy

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12 December 2020

Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene

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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

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12 December 2020

Sporadic late onset ornithine transcarbamylase deficiency in a boy with somatic mosaicism for an intragenic deletion

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12 December 2020

Sex ratio of the mutation frequencies in haemophilia A: coagulation assays and RFLP analysis

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Preferential deletion of exons in Duchenne and Becker muscular dystrophies

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Heterogeneity of dystrophin expression in patients with Duchenne and Becker muscular dystrophy

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12 December 2020

Theoretical expectations for deletional mutations in duchenne muscular dystrophy

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12 December 2020

Analysis of Scottish Duchenne and Becker muscular dystrophy families with dystrophin cDNA probes

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12 December 2020

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

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12 December 2020

Sex ratio of the mutation frequencies in haemophilia A: estimation and meta-analysis

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12 December 2020

DNA probe analysis for carrier detection and prenatal diagnosis of Duchenne muscular dystrophy: a standard diagnostic procedure

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12 December 2020

Segregation and sporadic cases of Duchenne muscular dystrophy in the Henan Province, China

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12 December 2020

Theoretical considerations on germline mosaicism in Duchenne muscular dystrophy

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12 December 2020

Mutants in Duchenne muscular dystrophy. Implications for prevention

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12 December 2020

Somatic mosaicism at the Duchenne locus

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12 December 2020

Misdiagnosed normal fetus owing to undetected germinal mosaicism for DMD deletion.

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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

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12 December 2020

Estimate of germinal mosaicism in Duchenne muscular dystrophy

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12 December 2020

The genetic status of mothers of isolated cases of Duchenne muscular dystrophy.

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12 December 2020

Duchenne muscular dystrophy: the gene and the protein

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12 December 2020

Direct diagnosis of carriers of Duchenne and Becker muscular dystrophy by amplification of lymphocyte RNA

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12 December 2020

Mutation of the Duchenne muscular dystrophy gene associated with meiotic recombination.

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12 December 2020

Does unequal crossing over contribute to the mutation rate in Duchenne muscular dystrophy?

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12 December 2020

The population genetics of Duchenne: natural and artificial selection in Duchenne muscular dystrophy

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12 December 2020

Gonadal mosaicism and genetic counseling for X-linked recessive lethals

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12 December 2020

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

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12 December 2020

Clinical studies in benign (Becker type) X-linked muscular dystrophy

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12 December 2020

Germinal mosaicism from grand-paternal origin in a family with Duchenne muscular dystrophy

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12 December 2020

Germline mosaicism and Duchenne muscular dystrophy mutations

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12 December 2020

Frequency of new mutants among boys with Duchenne muscular dystrophy

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12 December 2020

Prenatal diagnosis and carrier detection of Duchenne muscular dystrophy with closely linked RFLPs

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12 December 2020

Localization and cloning of Xp21 deletion breakpoints involved in muscular dystrophy

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12 December 2020

Germinal mosaicism in Duchenne muscular dystrophy

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12 December 2020

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

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12 December 2020

Familial inheritance of a DXS164 deletion mutation from a heterozygous female

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12 December 2020

Identifiers

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9 May 2018