(Q57263791)

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

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

4

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publication date

August 2005

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published in

Human Mutation

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volume

26

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issue

2

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page(s)

125-134

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cites work

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

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

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

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Breakpoints of gross deletions coincide with non-B DNA conformations

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Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome

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An Alu-mediated partial SDHC deletion causes familial and sporadic paraganglioma

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Mutations in SBDS are associated with Shwachman-Diamond syndrome

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Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms

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

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A systematic analysis of LINE-1 endonuclease-dependent retrotranspositional events causing human genetic disease

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

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

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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

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Identification of hereditary hemorrhagic telangiectasia type 1 in newborns by protein expression and mutation analysis of endoglin

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Preserved speech variant is allelic of classic Rett syndrome

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Standardizing mutation nomenclature: why bother?

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

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Genotype-phenotype correlation in von Hippel-Lindau families with renal lesions.

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310 basepair APC deletion with duplication of breakpoint (439ins15del310) in an Italian polyposis patient.

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On the complexity measures of genetic sequences.

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A homozygous insertion-deletion in the type VII collagen gene (COL7A1) in Hallopeau-Siemens dystrophic epidermolysis bullosa

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Mucopolysaccharidosis type IVA: common double deletion in the N-acetylgalactosamine-6-sulfatase gene (GALNS)

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Characterization of two unusual RS1 gene deletions segregating in Danish retinoschisis families.

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Two distinct deletions in the IDS gene and the gene W: a novel type of mutation associated with the Hunter syndrome

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Misalignment-mediated DNA synthesis errors

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Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption

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7 January 2021

Mechanism and regulation of human non-homologous DNA end-joining

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

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Novel double-deletion mutations of the OFD1 gene creating multiple novel transcripts

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

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Contribution of arylsulfatase A mutations located on the same allele to enzyme activity reduction and metachromatic leukodystrophy severity

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Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.

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In-frame deletions of BRCA1 may define critical functional domains

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Spectrum of mutations and sequence variants in the FALDH gene in patients with Sjögren-Larsson syndrome

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Duplication followed by deletion accounts for the structure of an Indian deletion beta (0)-thalassemia gene

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Human Gene Mutation Database (HGMD): 2003 update

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

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Genomic rearrangements of the APC tumor-suppressor gene in familial adenomatous polyposis.

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7 January 2021

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

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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

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Molecular characterization of two deletion events involving Alu-sequences, one novel base substitution and two tentative hotspot mutations in the hypoxanthine phosphoribosyltransferase (HPRT) gene in five patients with Lesch-Nyhan syndrome

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7 January 2021

Chromosomal stability and the DNA double-stranded break connection

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7 January 2021

The mechanism of non-homologous end-joining: a synopsis of synapsis

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The myotonic dystrophy type 1 triplet repeat sequence induces gross deletions and inversions.

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7 January 2021