Identification of a 3.0-kb major recombination hotspot in patients with Sotos syndrome who carry a common 1.9-Mb microdeletion - Wikidata - awgldk - TriplyDB

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

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

http://www.wikidata.org/entity/Q33938790

about

Mechanisms of change in gene copy number Discovery of human inversion polymorphisms by comparative analysis of human and chimpanzee DNA sequence assemblies.Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability Copy number variation, chromosome rearrangement, and their association with recombination during avian evolution Traffic of genetic information between segmental duplications flanking the typical 22q11.2 deletion in velo-cardio-facial syndrome/DiGeorge syndrome.Inversion variants in the human genome: role in disease and genome architecture From microscopes to microarrays: dissecting recurrent chromosomal rearrangements.Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations.High rates of de novo 15q11q13 inversions in human spermatozoa.A human genome structural variation sequencing resource reveals insights into mutational mechanisms.Primate segmental duplications: crucibles of evolution, diversity and disease.Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome.Sotos syndrome.Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture.The ongoing dissection of the genetic architecture of autistic spectrum disorder A chromosomal rearrangement hotspot can be identified from population genetic variation and is coincident with a hotspot for allelic recombination On the sequence-directed nature of human gene mutation: the role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease.Pico-inplace-inversions between human and chimpanzee.Human inversions and their functional consequences Characterization of six human disease-associated inversion polymorphisms Contemplating effects of genomic structural variation.Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombination.Genotype to phenotype-discovery and characterization of novel genomic disorders in a "genotype-first" era.The clinical context of copy number variation in the human genome.Biological roles of translin and translin-associated factor-X: RNA metabolism comes to the fore.Copy number variation in the autism genome.Gene discovery and functional assessment of rare copy-number variants in neurodevelopmental disorders.Variant discovery and breakpoint region prediction for studying the human 22q11.2 deletion using BAC clone and whole genome sequencing analysis.SRinversion: a tool for detecting short inversions by splitting and re-aligning poorly mapped and unmapped sequencing reads.Further Evidence of Contrasting Phenotypes Caused by Reciprocal Deletions and Duplications: Duplication of NSD1 Causes Growth Retardation and Microcephaly.DNA recombination. Recombination initiation maps of individual human genomes.Copy number variation at the breakpoint region of isochromosome 17q.Low copy repeats mediate distal chromosome 22q11.2 deletions: sequence analysis predicts breakpoint mechanisms.Identification of recurrent type-2 NF1 microdeletions reveals a mitotic nonallelic homologous recombination hotspot underlying a human genomic disorder.Inversion polymorphisms and non-contiguous terminal deletions: the cause and the (unpredicted) effect of our genome architecture.Analysis of crossover breakpoints yields new insights into the nature of the gene conversion events associated with large NF1 deletions mediated by nonallelic homologous recombination.Evaluation of PRDM9 variation as a risk factor for recurrent genomic disorders and chromosomal non-disjunction.RETRACTED: Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements.Clinical and genetic spectrum of 18 unrelated Korean patients with Sotos syndrome: frequent 5q35 microdeletion and identification of four novel NSD1 mutations.Leukocyte cDNA analysis of NSD1 derived from confirmed Sotos syndrome patients.

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P2860

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

http://www.wikidata.org/entity/Q33938790

description

2004 nî lūn-bûn

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2004 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած

@hyw

2004 թվականի նոյեմբերին հրատարակված գիտական հոդված

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2004年の論文

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2004年論文

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2004年論文

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2004年論文

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2004年論文

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2004年論文

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2004年论文

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Identification of a 3.0-kb maj ...... a common 1.9-Mb microdeletion

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Identification of a 3.0-kb maj ...... a common 1.9-Mb microdeletion

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Identification of a 3.0-kb maj ...... a common 1.9-Mb microdeletion

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Identification of a 3.0-kb maj ...... a common 1.9-Mb microdeletion

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Identification of a 3.0-kb maj ...... a common 1.9-Mb microdeletion

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Identification of a 3.0-kb maj ...... a common 1.9-Mb microdeletion

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American Journal of Human Genetics

P1476

Identification of a 3.0-kb maj ...... a common 1.9-Mb microdeletion

@en

P2093

Akira Kinoshita

http://www.w3.org/2001/XMLSchema#string

Naoki Harada

http://www.w3.org/2001/XMLSchema#string

Naomichi Matsumoto

http://www.w3.org/2001/XMLSchema#string

Norio Niikawa

http://www.w3.org/2001/XMLSchema#string

Osamu Shimokawa

http://www.w3.org/2001/XMLSchema#string

Remco Visser

http://www.w3.org/2001/XMLSchema#string

Tohru Ohta

http://www.w3.org/2001/XMLSchema#string

P2860

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

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

Primer3 on the WWW for general users and for biologist programmers

Crossover breakpoint mapping identifies a subtelomeric hotspot for male meiotic recombination

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

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

A molecular timescale for vertebrate evolution

Genome architecture, rearrangements and genomic disorders

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

Molecular mechanisms for CMT1A duplication and HNPP deletion.

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1

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8146445

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15580547

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1196433

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