(Q57263800)

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

DNA inverted repeats and human disease

4

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publication date

October 2005

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published in

Human Mutation

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volume

26

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page(s)

362-373

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issue

4

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cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20230

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.20230

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.20230

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20230

7 January 2021

Shuffling of genes within low-copy repeats on 22q11 (LCR22) by Alu-mediated recombination events during evolution

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20230

7 January 2021

Non-B DNA conformations, genomic rearrangements, and human disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20230

7 January 2021

Breakpoints of gross deletions coincide with non-B DNA conformations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20230

7 January 2021

Recent segmental duplications in the human genome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20230

7 January 2021

An Alu Transposition Model for the Origin and Expansion of Human Segmental Duplications

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20230

7 January 2021

Inversion of the IDS gene resulting from recombination with IDS-related sequences is a common cause of the Hunter syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20230

7 January 2021

Short, direct repeats at the breakpoints of deletions of the retinoblastoma gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20230

7 January 2021

ATR homolog Mec1 promotes fork progression, thus averting breaks in replication slow zones.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20230

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20230

7 January 2021

Complex gene rearrangements caused by serial replication slippage

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20230

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20230

7 January 2021

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.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20230

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20230

7 January 2021

DNA polymerase delta, RFC and PCNA are required for repair synthesis of large looped heteroduplexes in Saccharomyces cerevisiae.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20230

7 January 2021

Preserved speech variant is allelic of classic Rett syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20230

7 January 2021

Standardizing mutation nomenclature: why bother?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20230

7 January 2021

Genomic rearrangements at the IGHMBP2 gene locus in two patients with SMARD1

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20230

7 January 2021

On the complexity measures of genetic sequences.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20230

7 January 2021

DNA recombination: the replication connection.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20230

7 January 2021

Interaction of nick-directed DNA mismatch repair and loop repair in human cells.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20230

7 January 2021

Characterization of RAD51-independent break-induced replication that acts preferentially with short homologous sequences

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20230

7 January 2021

Novel type of genetic rearrangement in the iduronate-2-sulfatase (IDS) gene involving deletion, duplications, and inversions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20230

7 January 2021

Deletions with inversions: report of a mutation and review of the literature.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20230

7 January 2021

A novel deletion/inversion mutation in the low-density lipoprotein receptor gene as a cause of heterozygous familial hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20230

7 January 2021

A novel peculiar mutation in the sodium/iodide symporter gene in spanish siblings with iodide transport defect

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20230

7 January 2021

Eucaryotic genome evolution through the spontaneous duplication of large chromosomal segments

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20230

7 January 2021

Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20230

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.20230

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20230

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20230

7 January 2021

An inversion of 25 base pairs causes feline GM2 gangliosidosis variant.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20230

7 January 2021

Bi-directional Processing of DNA Loops by Mismatch Repair-dependent and -independent Pathways in Human Cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20230

7 January 2021

Human APRT deficiency: indication for multiple origins of the most common Caucasian mutation and detection of a novel type of mutation involving intrastrand-templated repair

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20230

7 January 2021

Rapid detection of CFTR gene rearrangements impacts on genetic counselling in cystic fibrosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20230

7 January 2021

Complex germline rearrangement of BRCA1 associated with breast and ovarian cancer.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20230

7 January 2021

Replication and expansion of trinucleotide repeats in yeast

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20230

7 January 2021

Importance of clinical evaluation and molecular testing in the branchio-oto-renal (BOR) syndrome and overlapping phenotypes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20230

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20230

7 January 2021

Frameshift mutation: determinants of specificity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20230

7 January 2021

Leading strand specific spontaneous mutation corrects a quasipalindrome by an intermolecular strand switch mechanism.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20230

7 January 2021

Primer-template misalignments during leading strand DNA synthesis account for the most frequent spontaneous mutations in a quasipalindromic region in Escherichia coli

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20230

7 January 2021

Significant contribution of genomic rearrangements in SLC3A1 and SLC7A9 to the etiology of cystinuria

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20230

7 January 2021

Hereditary nonpolyposis colorectal cancer in 95 families: differences and similarities between mutation-positive and mutation-negative kindreds

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20230

7 January 2021

Congenital erythropoietic porphyria: identification and expression of eight novel mutations in the uroporphyrinogen III synthase gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20230

7 January 2021

Human Gene Mutation Database (HGMD): 2003 update.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20230

7 January 2021

Haplotype analysis of BRCA1 gene reveals a new gene rearrangement: characterization of a 19.9 KBP deletion.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20230

7 January 2021

BLAST 2 Sequences, a new tool for comparing protein and nucleotide sequences

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20230

7 January 2021

Molecular basis for dominantly inherited inclusion body beta-thalassemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20230

7 January 2021

Seven novel mutations of the PKD2 gene in families with autosomal dominant polycystic kidney disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20230

7 January 2021

Preferential DNA secondary structure mutagenesis in the lagging strand of replication in E. coli

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20230

7 January 2021

Nonsyndromic hearing impairment is associated with a mutation in DFNA5

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20230

7 January 2021

Strand misalignments lead to quasipalindrome correction

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20230

7 January 2021

A novel mutational hotspot in a natural quasipalindrome in Escherichia coli.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20230

7 January 2021

Naturally occurring H-DNA-forming sequences are mutagenic in mammalian cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20230

7 January 2021

Patterns of Segmental Duplication in the Human Genome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20230

7 January 2021

Quantifying the mechanisms for segmental duplications in mammalian genomes by statistical analysis and modeling

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20230

7 January 2021