Double complex mutations involving F8 and FUNDC2 caused by distinct break-induced replication (Q45870037)

17 December 2017

title

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

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17 December 2017

1

Campbell R Sheen

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17 December 2017

Christine Morris

3

Christine M Morris

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17 December 2017

Steve Brennan

4

Stephen O Brennan

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17 December 2017

Peter George

6

Peter M George

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17 December 2017

Mark P. Smith

7

Mark P Smith

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17 December 2017

Ursula Jewell

2

Ursula R Jewell

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17 December 2017

author name string

Claude Férec

5

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17 December 2017

Jian-Min Chen

8

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17 December 2017

language of work or name

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1 December 2007

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17 December 2017

published in

Human Mutation

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17 December 2017

volume

28

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17 December 2017

page(s)

1198-1206

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17 December 2017

issue

12

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17 December 2017

Comparison of filler DNA at immune, nonimmune, and oncogenic rearrangements suggests multiple mechanisms of formation

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Copy number polymorphism in Fcgr3 predisposes to glomerulonephritis in rats and humans

21 January 2018

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7 January 2021

Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A.

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7 January 2021

Melanoma antigen gene protein MAGE-11 regulates androgen receptor function by modulating the interdomain interaction

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7 January 2021

A first-generation X-inactivation profile of the human X chromosome

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7 January 2021

Complex gene rearrangements caused by serial replication slippage

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7 January 2021

Intrachromosomal serial replication slippage intransgives rise to diverse genomic rearrangements involving inversions

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7 January 2021

Meta-Analysis of gross insertions causing human genetic disease: Novel mutational mechanisms and the role of replication slippage

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7 January 2021

Genome-wide detection of segmental duplications and potential assembly errors in the human genome sequence

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7 January 2021

SeeGH--a software tool for visualization of whole genome array comparative genomic hybridization data

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7 January 2021

Structure, chromosomal localization, and expression of 12 genes of the MAGE family

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7 January 2021

Clusters of mutations from transient hypermutability

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7 January 2021

The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility

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7 January 2021

Detection of large-scale variation in the human genome

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7 January 2021

MAGE-11 protein is highly conserved in higher organisms and located predominantly in the nucleus

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https://api.crossref.org/works/10.1002%2FHUMU.20591

7 January 2021

Haemophilia A, factor VIII intron 22 inversion screening using subcycling-PCR.

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7 January 2021

Position effect in human genetic disease

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7 January 2021

Annotation, submission and screening of repetitive elements in Repbase: RepbaseSubmitter and Censor

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7 January 2021

Eucaryotic genome evolution through the spontaneous duplication of large chromosomal segments

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20591

7 January 2021

Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20591

7 January 2021

Hereditary pancreatitis caused by triplication of the trypsinogen locus

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7 January 2021

Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits

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7 January 2021

Double-strand break repair in the absence of RAD51 in yeast: a possible role for break-induced DNA replication

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7 January 2021

Break-induced replication and recombinational telomere elongation in yeast

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7 January 2021

DNA double-strand breaks caused by replication arrest

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7 January 2021

DNA repair mediated by endonuclease-independent LINE-1 retrotransposition.

1 reference

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7 January 2021

Severe hemophilia A due to a 1.3 kb factor VIII gene deletion including exon 24: homologous recombination between 41 bp within an Alu repeat sequence in introns 23 and 24.

1 reference

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7 January 2021

Generation of RAGE-1 and MAGE-9 peptide-specific cytotoxic T-lymphocyte lines for transfer in patients with renal cell carcinoma

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https://api.crossref.org/works/10.1002%2FHUMU.20591

7 January 2021

The melanoma antigen genes--any clues to their functions in normal tissues?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20591

7 January 2021

Evaluation of DHPLC in the analysis of hemophilia A.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20591

7 January 2021

Pathways of DNA double-strand break repair and their impact on the prevention and formation of chromosomal aberrations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20591

7 January 2021

MAGE-A9 mRNA and protein expression in bladder cancer

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20591

7 January 2021

Global variation in copy number in the human genome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20591

7 January 2021

Global expression analysis of cancer/testis genes in uterine cancers reveals a high incidence of BORIS expression

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7 January 2021

The DNA sequence of the human X chromosome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20591

7 January 2021

Homeologous recombination between AluSx-sequences as a cause of hemophilia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20591

7 January 2021

A novel gene, FAM11A, associated with the FRAXF CpG island is transcriptionally silent in FRAXF full mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20591

7 January 2021

Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20591

7 January 2021

Shotgun sequence assembly and recent segmental duplications within the human genome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20591

7 January 2021

Molecular characterization of heat shock-like factor encoded on the human Y chromosome, and implications for male infertility.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20591

7 January 2021

Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20591

7 January 2021

A deletion/insertion leading to the generation of a direct repeat as a result of slipped mispairing and intragenic recombination in the factor VIII gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20591

7 January 2021

Nonhomologous recombination in the human genome: deletions in the human factor VIII gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20591

7 January 2021

Identifiers

DOI

10.1002/HUMU.20591

1 reference

17 December 2017

PubMed ID

17683067

1 reference

17 December 2017