Genomic context of paralogous recombination hotspots mediating recurrent NF1 region microdeletion (Q47243146)

12 January 2018

title

Genomic context of paralogous recombination hotspots mediating recurrent NF1 region microdeletion (English)

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12 January 2018

author name string

Stephen H Forbes

1

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12 January 2018

Michael O Dorschner

2

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12 January 2018

Rosalynda Le

3

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12 January 2018

Karen Stephens

4

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12 January 2018

publication date

1 September 2004

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12 January 2018

Genes, Chromosomes and Cancer

published in

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12 January 2018

volume

41

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12 January 2018

page(s)

12-25

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12 January 2018

issue

1

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12 January 2018

Crossover breakpoint mapping identifies a subtelomeric hotspot for male meiotic recombination

cites work

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7 January 2021

Mutational mechanisms of Williams-Beuren syndrome deletions

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d(GA x TC)(n) microsatellite DNA sequences enhance homologous DNA recombination in SV40 minichromosomes

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Tandem repeats finder: a program to analyze DNA sequences

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Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2.

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A non-hypervariable human minisatellite strongly stimulates in vitro intramolecular homologous recombination

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7 January 2021

Computational identification of promoters and first exons in the human genome

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7 January 2021

Distribution of meiotic recombination sites

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7 January 2021

Elevated risk for MPNST in NF1 microdeletion patients

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7 January 2021

NF1 microdeletion breakpoints are clustered at flanking repetitive sequences.

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7 January 2021

Segmental duplications: an 'expanding' role in genomic instability and disease

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7 January 2021

Chromosomal regions containing high-density and ambiguously mapped putative single nucleotide polymorphisms (SNPs) correlate with segmental duplications in the human genome

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7 January 2021

Localization and DNA sequence of a replication origin in the rhodopsin gene locus of Chinese hamster cells.

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Partners and pathwaysrepairing a double-strand break.

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7 January 2021

Gene conversion homogenizes the CMT1A paralogous repeats

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7 January 2021

Molecular mechanisms for genomic disorders

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7 January 2021

The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes

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7 January 2021

High-resolution mapping of crossovers in human sperm defines a minisatellite-associated recombination hotspot

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7 January 2021

A common set of at least 11 functional genes is lost in the majority of NF1 patients with gross deletions

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7 January 2021

Molecular characterization and gene content of breakpoint boundaries in patients with neurofibromatosis type 1 with 17q11.2 microdeletions

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7 January 2021

Complete physical map and gene content of the human NF1 tumor suppressor region in human and mouse

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7 January 2021

ConstitutionalNF1 mutations in neurofibromatosis 1 patients with malignant peripheral nerve sheath tumors

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7 January 2021

Screening 500 unselected neurofibromatosis 1 patients for deletions of the NF1 gene

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7 January 2021

Clinical features and pathobiology of neurofibromatosis 1.

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Long AT-rich palindromes and the constitutional t(11;22) breakpoint

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7 January 2021

The constitutional t(17;22): another translocation mediated by palindromic AT-rich repeats

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7 January 2021

The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men.

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7 January 2021

Familial neurofibromatosis 1 microdeletions: cosegregation with distinct facial phenotype and early onset of cutaneous neurofibromata

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7 January 2021

Fine mapping of de novo CMT1A and HNPP rearrangements within CMT1A-REPs evidences two distinct sex-dependent mechanisms and candidate sequences involved in recombination.

1 reference

7 January 2021

Homologous DNA Exchanges in Humans Can Be Explained by the Yeast Double-Strand Break Repair Model: A Study of 17p11.2 Rearrangements Associated with CMT1A and HNPP

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7 January 2021

Molecular studies in 20 submicroscopic neurofibromatosis type 1 gene deletions

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7 January 2021

Unequal meiotic crossover: a frequent cause of NF1 microdeletions.

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7 January 2021

Recombination hotspot in NF1 microdeletion patients

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7 January 2021

DNA duplication associated with Charcot-Marie-Tooth disease type 1A

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7 January 2021

2002 Curt Stern Award Address. Genomic disorders recombination-based disease resulting from genomic architecture

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7 January 2021

PatternHunter: faster and more sensitive homology search

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7 January 2021

Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects.

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7 January 2021

Long palindromic sequences induce double-strand breaks during meiosis in yeast.

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7 January 2021

Structure and evolution of the Smith-Magenis syndrome repeat gene clusters, SMS-REPs.

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7 January 2021

A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element.

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7 January 2021

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

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7 January 2021

Recombination between palindromes P5 and P1 on the human Y chromosome causes massive deletions and spermatogenic failure

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7 January 2021

DnaSP version 3: an integrated program for molecular population genetics and molecular evolution analysis

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7 January 2021

Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis

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7 January 2021

Mathematical model to predict regions of chromatin attachment to the nuclear matrix

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7 January 2021

Molecular-evolutionary mechanisms for genomic disorders

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7 January 2021

Genetics of neurofibromatosis 1-associated peripheral nerve sheath tumors

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7 January 2021

The recombination hot spot chi is embedded within islands of preferred DNA pairing sequences in the E. coli genome.

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7 January 2021

Gross deletions of the neurofibromatosis type 1 (NF1) gene are predominantly of maternal origin and commonly associated with a learning disability, dysmorphic features and developmental delay.

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7 January 2021

Regulation and mechanisms of mammalian double-strand break repair

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7 January 2021

Mental retardation and cardiovascular malformations in NF1 microdeleted patients point to candidate genes in 17q11.2.

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7 January 2021

Hypervariable minisatellite DNA is a hotspot for homologous recombination in human cells

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7 January 2021

High-resolution sperm typing of meiotic recombination in the mouse MHC Ebeta gene.

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7 January 2021

Identifiers

DOI

10.1002/GCC.20065

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12 January 2018

PubMed ID

15236313

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12 January 2018