(Q57263803)

5

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author name string

Jian-Min Chen

1

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Peter D. Stenson

3

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Claude Férec

Translocation and gross deletion breakpoints in human inherited disease and cancer I: Nucleotide composition and recombination-associated motifs

4

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publication date

10 January 2005

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published in

Human Mutation

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volume

25

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issue

2

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page(s)

207-221

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cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20133

Gross Rearrangement Breakpoint Database (GRaBD).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20133

Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20133

Genomic rearrangements in the CFTR gene: extensive allelic heterogeneity and diverse mutational mechanisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20133

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20133

Rates of DNA Duplication and Mitochondrial DNA Insertion in the Human Genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20133

recA-independent and recA-dependent intramolecular plasmid recombination. Differential homology requirement and distance effect

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20133

Screening the 3' region of the polycystic kidney disease 1 (PKD1) gene in 41 Bulgarian and Australian kindreds reveals a prevalence of protein truncating mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20133

Prevalence of small rearrangements in the factor VIII gene F8C among patients with severe hemophilia A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20133

A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20133

Hot L1s account for the bulk of retrotransposition in the human population

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20133

Alanine tracts: the expanding story of human illness and trinucleotide repeats

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20133

HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20133

Variable deletion and duplication at recombination junction ends: implication for staggered double-strand cleavage in class-switch recombination

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20133

Identification of a 31-bp insertion (3860ins31) in exon 20 of the cysticfibrosis (CFTR) gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20133

Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20133

Meta-analysis of indels causing human genetic disease: mechanisms of mutagenesis and the role of local DNA sequence complexity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20133

Translocation and gross deletion breakpoints in human inherited disease and cancer II: Potential involvement of repetitive sequence elements in secondary structure formation between DNA ends

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20133

Mechanisms of insertional mutagenesis in human genes causing genetic disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20133

Molecular basis of non-lethal junctional epidermolysis bullosa: identification of a 38 basepair insertion and a splice site mutation in exon 14 of the LAMB3 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20133

Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20133

LINE-mediated retrotransposition of marked Alu sequences

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20133

Mutations in the RB1 gene and their effects on transcription

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20133

Haplotype and interspersion analysis of the FMR1 CGG repeat identifies two different mutational pathways for the origin of the fragile X syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20133

Can APC mutation analysis contribute to therapeutic decisions in familial adenomatous polyposis? Experience from 680 FAP families

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20133

A novel mitochondrial DNA-like sequence insertion polymorphism in Intron I of the FOXO1A gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20133

Identification of seven novel nucleotide variants in the hepatocyte nuclear factor-1alpha (TCF1) promoter region in MODY patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20133

Transmissible familial Creutzfeldt-Jakob disease associated with five, seven, and eight extra octapeptide coding repeats in the PRNP gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20133

On the complexity measures of genetic sequences.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20133

Pyruvate dehydrogenase deficiency caused by a 33 base pair duplication in the PDH E1 alpha subunit.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20133

How do mitochondrial genes get into the nucleus?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20133

Homozygous premature truncation of the HERG protein : the human HERG knockout

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20133

Direct measurement of the transfer rate of chloroplast DNA into the nucleus

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20133

Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20133

Substrate length requirements for efficient mitotic recombination in Saccharomyces cerevisiae

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20133

Novel mutation in X-linked Charcot-Marie-Tooth disease associated with CNS impairment

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20133

Mobile elements: drivers of genome evolution

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20133

Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20133

Neighboring-nucleotide effects on the rates of germ-line single-base-pair substitution in human genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20133

Initial sequencing and analysis of the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20133

Two novel insertions in the prion protein gene in patients with lateonset dementia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20133

Characterization of molecular defects in xeroderma pigmentosum group C

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20133

Encoded errors: mutations and rearrangements mediated by misalignment at repetitive DNA sequences

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20133

Recombination between repeats in Escherichia coli by a recA-independent, proximity-sensitive mechanism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20133

Reverse transcription of R2Bm RNA is primed by a nick at the chromosomal target site: A mechanism for non-LTR retrotransposition

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20133

A Chinese G gamma + (A gamma delta beta)zero thalassemia deletion: comparison to other deletions in the human beta-globin gene cluster and sequence analysis of the breakpoints

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20133

Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20133

Duplication in the hypoxanthine phosphoribosyl-transferase gene caused by Alu-Alu recombination in a patient with Lesch Nyhan syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20133

Gene transfer from organelles to the nucleus: frequent and in big chunks

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20133

Pathogenesis of polyglutamine disorders: aggregation revisited

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20133

DNA repair mediated by endonuclease-independent LINE-1 retrotransposition

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20133

GM1-gangliosidosis: tandem duplication within exon 3 of β-galactosidase gene in an infantile patient

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20133

Biology of mammalian L1 retrotransposons

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20133

SVA elements are nonautonomous retrotransposons that cause disease in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20133

Interruptions in the Triplet Repeats of SCA1 and FRAXA Reduce the Propensity and Complexity of Slipped Strand DNA (S-DNA) Formation†

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20133

Spectrum of retGC1 mutations in Leber's congenital amaurosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20133

Oligonucleotides with rapid turnover of the phosphate groups occur endogenously in eukaryotic cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20133

An Alu-mediated 6-kb duplication in the BRCA1 gene: a new founder mutation?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20133

Ten novel ORF15 mutations confirm mutational hot spot in the RPGR gene in European patients with X-linked retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20133

A 40‐base‐pair duplication in the gp91‐phox gene leading to X‐linked chronic granulomatous disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20133

Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20133

Model for the participation of quasi-palindromic DNA sequences in frameshift mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20133

Mechanisms of nonhomologous recombination in mammalian cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20133

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20133

Oligonucleotide capture during end joining in mammalian cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20133

Biological implications of the DNA structures associated with disease-causing triplet repeats

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20133

Novel 23-base-pair duplication mutation in TSC1 exon 15 in an infant presenting with cardiac rhabdomyomas

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20133

High-frequency gene transfer from the chloroplast genome to the nucleus

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20133

Human Gene Mutation Database (HGMD): 2003 update

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20133

Destabilization of tracts of simple repetitive DNA in yeast by mutations affecting DNA mismatch repair

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20133

Frameshift mutations and the genetic code. This paper is dedicated to Professor Theodosius Dobzhansky on the occasion of his 66th birthday

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20133

Detection of a molecular defect in 40 of 44 patients with haemophilia B by PCR and denaturing gradient gel electrophoresis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20133

Tandem duplication within a type II collagen gene (COL2A1) exon in an individual with spondyloepiphyseal dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20133

Structure and chromosomal distribution of human mitochondrial pseudogenes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20133

Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20133

Dependence of intrachromosomal recombination in mammalian cells on uninterrupted homology

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20133

Polyalanine expansion in synpolydactyly might result from unequal crossing-over of HOXD13

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20133

Novel mutations detected in the TSC2 gene from both sporadic and familial TSC patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20133

Inactivation of the luteinizing hormone/chorionic gonadotropin receptor by an insertional mutation in Leydig cell hypoplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20133

Identification of 605ins46, a novel GJB2 mutation in a Japanese family

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20133

Variations in the myocilin gene in patients with open-angle glaucoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20133

7 January 2021

A variant of the EPB3 gene of the anti-Lepore type in hereditary spherocytosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20133

7 January 2021

Frequency of deletion formation decreases exponentially with distance between short direct repeats

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20133

7 January 2021

Evolution of simple repeats in DNA and their relation to human disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20133

7 January 2021

Unequal homologous crossing over resulting in duplication of 36 base pairs within exon 47 of the COL4A5 gene in a family with Alport syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20133

7 January 2021

The Human Genome Project Reveals a Continuous Transfer of Large Mitochondrial Fragments to the Nucleus

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20133

7 January 2021

Triplet repeat DNA structures and human genetic disease: dynamic mutations from dynamic DNA

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20133

7 January 2021

Determination of the amount of homology required for recombination in bacteriophage T4

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20133

7 January 2021

Distinct and opposite diversifying activities of terminal transferase splice variants

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20133

7 January 2021

Human genetic disease caused by de novo mitochondrial-nuclear DNA transfer.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20133

7 January 2021

Exon-scanning mutation analysis of the ATM gene in patients with ataxia-telangiectasia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20133

7 January 2021

Mutations of the CDKN2/p16INK4 gene in Australian melanoma kindreds

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20133

7 January 2021

Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20133

7 January 2021

Germ line insertion of mtDNA at the breakpoint junction of a reciprocal constitutional translocation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20133

7 January 2021

A novel apolipoprotein E5 variant with a 24-bp insertion causing hyperlipidemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20133

7 January 2021