Haploinsufficiency of DNA Damage Response Genes and their Potential Influence in Human Genomic Disorders. - Wikidata - awgldk - TriplyDB

Haploinsufficiency of DNA Damage Response Genes and their Potential Influence in Human Genomic Disorders.

Haploinsufficiency of DNA Damage Response Genes and their Potential Influence in Human Genomic Disorders.

http://www.wikidata.org/entity/Q37185705

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Diseases associated with defective responses to DNA damage Evolutionary genomics of human intellectual disability A genomic instability score in discriminating nonequivalent outcomes of BRCA1/2 mutations and in predicting outcomes of ovarian cancer treated with platinum-based chemotherapy RPA70 depletion induces hSSB1/2-INTS3 complex to initiate ATR signaling.Disease severity in a mouse model of ataxia telangiectasia is modulated by the DNA damage checkpoint gene Hus1 Performance of multiplicom's BRCA MASTR Dx kit on the detection of BRCA1 and BRCA2 mutations in fresh frozen ovarian and breast tumor samples Chromosome Mis-segregation Generates Cell-Cycle-Arrested Cells with Complex Karyotypes that Are Eliminated by the Immune System.Human female meiosis revised: new insights into the mechanisms of chromosome segregation and aneuploidies from advanced genomics and time-lapse imaging.

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Haploinsufficiency of DNA Damage Response Genes and their Potential Influence in Human Genomic Disorders.

http://www.wikidata.org/entity/Q37185705

description

article científic

@ca

article scientifique

@fr

articolo scientifico

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artigo científico

@pt

bilimsel makale

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scientific article published on May 2008

@en

vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

@cs

name

Haploinsufficiency of DNA Dama ...... ce in Human Genomic Disorders.

@en

Haploinsufficiency of DNA Dama ...... ce in Human Genomic Disorders.

@nl

type

label

Haploinsufficiency of DNA Dama ...... ce in Human Genomic Disorders.

@en

Haploinsufficiency of DNA Dama ...... ce in Human Genomic Disorders.

@nl

prefLabel

Haploinsufficiency of DNA Dama ...... ce in Human Genomic Disorders.

@en

Haploinsufficiency of DNA Dama ...... ce in Human Genomic Disorders.

@nl

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Current Genomics

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Haploinsufficiency of DNA Dama ...... ce in Human Genomic Disorders.

@en

P2860

The diploid genome sequence of an individual human

The role of double-strand break repair — insights from human genetics

Identification of microcephalin, a protein implicated in determining the size of the human brain

Microcephalin Is a DNA Damage Response Protein Involved in Regulation of CHK1 and BRCA1

The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome

Reconstitution of recombinant human replication factor C (RFC) and identification of an RFC subcomplex possessing DNA-dependent ATPase activity

Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome

A single ataxia telangiectasia gene with a product similar to PI-3 kinase

Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3

Chromosomal instability at common fragile sites in Seckel syndrome

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scholarly article

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10.2174/138920208784340795

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3

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Mark O'Driscoll

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haploinsufficiency

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