Identification of a 3.0-kb major recombination hotspot in patients with Sotos syndrome who carry a common 1.9-Mb microdeletion (Q33938790)

30 July 2017

title

Identification of a 3.0-kb major recombination hotspot in patients with Sotos syndrome who carry a common 1.9-Mb microdeletion (English)

1 reference

30 July 2017

1 reference

Norio Niikawa

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30 July 2017

Akira Kinoshita

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30 July 2017

Remco Visser

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30 July 2017

Osamu Shimokawa

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30 July 2017

Tohru Ohta

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30 July 2017

Naoki Harada

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30 July 2017

Naomichi Matsumoto

series ordinal

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30 July 2017

language of work or name

English

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publication date

16 November 2004

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American Journal of Human Genetics

30 July 2017

published in

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30 July 2017

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30 July 2017

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30 July 2017

page(s)

52-67

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Uncommon deletions of the Smith-Magenis syndrome region can be recurrent when alternate low-copy repeats act as homologous recombination substrates

30 July 2017

cites work

1 reference

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Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease

5 July 2018

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Intense and highly localized gene conversion activity in human meiotic crossover hot spots

5 July 2018

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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.

5 July 2018

1 reference

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Genetics of Sotos syndrome

5 July 2018

1 reference

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Identification of eight novel NSD1 mutations in Sotos syndrome

5 July 2018

1 reference

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Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196433

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

5 July 2018

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MultiPipMaker and supporting tools: Alignments and analysis of multiple genomic DNA sequences

5 July 2018

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Spectrum of NSD1 mutations in Sotos and Weaver syndromes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196433

Mutational mechanisms of Williams-Beuren syndrome deletions

5 July 2018

1 reference

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196433

Preferential paternal origin of microdeletions caused by prezygotic chromosome or chromatid rearrangements in Sotos syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196433

NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196433

Molecular mechanisms for genomic disorders

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196433

Molecular-evolutionary mechanisms for genomic disorders

5 July 2018

1 reference

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Haploinsufficiency of NSD1 causes Sotos syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196433

Segmental duplications and the evolution of the primate genome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196433

Genome architecture, rearrangements and genomic disorders

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196433

A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome.

5 July 2018

1 reference

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Recent duplication, domain accretion and the dynamic mutation of the human genome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196433

Molecular mechanisms for constitutional chromosomal rearrangements in humans

5 July 2018

1 reference

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An optimized set of human telomere clones for studying telomere integrity and architecture.

5 July 2018

1 reference

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Crossover breakpoint mapping identifies a subtelomeric hotspot for male meiotic recombination

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196433

Molecular mechanisms for CMT1A duplication and HNPP deletion

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196433

Primer3 on the WWW for general users and for biologist programmers

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196433

A molecular timescale for vertebrate evolution

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196433

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196433

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196433

The translin ring specifically recognizes DNA ends at recombination hot spots in the human genome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196433

Primate origin of the CMT1A-REP repeat and analysis of a putative transposon-associated recombinational hotspot

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196433

Sotos syndrome: a study of the diagnostic criteria and natural history

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196433

Genotype-phenotype correlation in patients suspected of having Sotos syndrome.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196433

Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196433

Molecular haplotype determination using allele-specific PCR and pyrosequencing technology.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196433

Sotos syndrome and haploinsufficiency of NSD1: clinical features of intragenic mutations and submicroscopic deletions.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196433

Unequal exchange at the Charcot-Marie-Tooth disease type 1A recombination hot-spot is not elevated above the genome average rate

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196433

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

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196433

Molecular characterization of inv dup del(8p): analysis of five cases

29 October 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Genomic inversions of human chromosome 15q11-q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions

1 reference

12 December 2020

Complex low-copy repeats associated with a common polymorphic inversion at human chromosome 8p23

1 reference

12 December 2020

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

1 reference

12 December 2020

Discrimination of primer 3'-nucleotide mismatch by taq DNA polymerase during polymerase chain reaction

1 reference

12 December 2020

Recombination hotspot in NF1 microdeletion patients

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12 December 2020

Identifiers

DOI

10.1086/426950

1 reference

30 July 2017

1 reference

30 July 2017

1 reference