Regional genomic instability predisposes to complex dystrophin gene rearrangements (Q47780584)

5 February 2018

title

Regional genomic instability predisposes to complex dystrophin gene rearrangements (English)

1 reference

5 February 2018

4

Amy M Breman

1 reference

5 February 2018

Christine M. Eng

11

object named as

Christine M Eng

1 reference

5 February 2018

author name string

Junko Oshima

1

1 reference

5 February 2018

Daniel B Magner

2

1 reference

5 February 2018

Jennifer A Lee

3

1 reference

5 February 2018

Eric S Schmitt

5

1 reference

5 February 2018

Lisa D White

6

1 reference

5 February 2018

Carol A Crowe

7

1 reference

5 February 2018

Michelle Merrill

8

1 reference

5 February 2018

Parul Jayakar

9

1 reference

5 February 2018

Aparna Rajadhyaksha

10

1 reference

5 February 2018

Daniela del Gaudio

12

1 reference

5 February 2018

publication date

16 May 2009

1 reference

5 February 2018

published in

Human Genetics

1 reference

5 February 2018

volume

126

1 reference

5 February 2018

issue

3

1 reference

5 February 2018

page(s)

411-423

1 reference

5 February 2018

Dystrophin, its interactions with other proteins, and implications for muscular dystrophy

cites work

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00439-009-0679-9

Pathways for mitotic homologous recombination in mammalian cells

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00439-009-0679-9

Back mutation can produce phenotype reversion in Bloom syndrome somatic cells

21 January 2018

1 reference

12 December 2020

Dystrophies and heart disease

1 reference

12 December 2020

Mechanisms for human genomic rearrangements

1 reference

12 December 2020

Genomic rearrangements and sporadic disease

1 reference

12 December 2020

Measurement of locus copy number by hybridisation with amplifiable probes

1 reference

12 December 2020

Analysis of 22 deletion breakpoints in dystrophin intron 49.

1 reference

12 December 2020

Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization

1 reference

12 December 2020

Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome

1 reference

12 December 2020

Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females

1 reference

12 December 2020

Cardiac involvement in carriers of Duchenne and Becker muscular dystrophy

1 reference

12 December 2020

Break-induced replication: a review and an example in budding yeast

1 reference

12 December 2020

Double complex mutations involving F8 and FUNDC2 caused by distinct break-induced replication

1 reference

12 December 2020

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

1 reference

12 December 2020

The Bloom's syndrome gene product is homologous to RecQ helicases

1 reference

12 December 2020

Efficient calculation of interval scores for DNA copy number data analysis

1 reference

12 December 2020

Microarray-based mutation detection in the dystrophin gene

1 reference

12 December 2020

Duplications in the DMD gene

1 reference

12 December 2020

A region in the dystrophin gene major hot spot harbors a cluster of deletion breakpoints and generates double-strand breaks in yeast

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

Three muscular dystrophies: loss of cytoskeleton-extracellular matrix linkage.

1 reference

12 December 2020

Characterization of a complex Duchenne muscular dystrophy-causing dystrophin gene inversion and restoration of the reading frame by induced exon skipping

1 reference

12 December 2020

In vivo duplication of genetic elements by the formation of stem-loop DNA without an RNA intermediate

1 reference

12 December 2020

Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit

1 reference

12 December 2020

The heart in human dystrophinopathies

1 reference

12 December 2020

Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination

1 reference

12 December 2020

A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders

1 reference

12 December 2020

Deletion and duplication screening in the DMD gene using MLPA.

1 reference

12 December 2020

An intragenic deletion/inversion event in the DMD gene determines a novel exon creation and results in a BMD phenotype

1 reference

12 December 2020

Two hot spots of recombination in the DMD gene correlate with the deletion prone regions

1 reference

12 December 2020

Detailed analysis of the repeat domain of dystrophin reveals four potential hinge segments that may confer flexibility

1 reference

12 December 2020

Dystrophin: the protein product of the Duchenne muscular dystrophy locus

1 reference

12 December 2020

Investigating the mechanism of chromosomal deletion: characterization of 39 deletion breakpoints in introns 47 and 48 of the human dystrophin gene

1 reference

12 December 2020

Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair.

1 reference

12 December 2020

LMNA mutations in atypical Werner's syndrome

1 reference

12 December 2020

Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17

1 reference

12 December 2020

Genome architecture catalyzes nonrecurrent chromosomal rearrangements

1 reference

12 December 2020

Partial gene duplication in Duchenne and Becker muscular dystrophies

1 reference

12 December 2020

Primary structure of dystrophin-associated glycoproteins linking dystrophin to the extracellular matrix

1 reference

12 December 2020

Genomic organization of the human dystrophin gene across the major deletion hot spot and the 3' region

1 reference

12 December 2020

Mfold web server for nucleic acid folding and hybridization prediction

1 reference

12 December 2020

A partial hprt gene duplication generated by non-homologous recombination in V79 Chinese hamster cells is eliminated by homologous recombination

1 reference

12 December 2020

10.1007/S00439-009-0679-9

Identifiers

DOI

1 reference

5 February 2018

1 reference

5 February 2018