about
The Influence of LINE-1 and SINE Retrotransposons on Mammalian GenomesAn expanding universe of the non-coding genome in cancer biologyMultiple cellular mechanisms prevent chromosomal rearrangements involving repetitive DNAComplex chromosomal rearrangements mediated by break-induced replication involve structure-selective endonucleases.Chromosome fragile sites in Arabidopsis harbor matrix attachment regions that may be associated with ancestral chromosome rearrangement eventsProgenetix: 12 years of oncogenomic data curation.Detecting non-allelic homologous recombination from high-throughput sequencing data.Genomic basis of aromatase excess syndrome: recombination- and replication-mediated rearrangements leading to CYP19A1 overexpressionPIF1 family DNA helicases suppress R-loop mediated genome instability at tRNA genes.Efficient Recreation of t(11;22) EWSR1-FLI1+ in Human Stem Cells Using CRISPR/Cas9.Repair of DNA double-strand breaks by templated nucleotide sequence insertions derived from distant regions of the genome.OsHUS1 facilitates accurate meiotic recombination in rice.CtIP maintains stability at common fragile sites and inverted repeats by end resection-independent endonuclease activity.Breakpoint characterization of large deletions in EXT1 or EXT2 in 10 multiple osteochondromas familiesDrosophila duplication hotspots are associated with late-replicating regions of the genomeChromosome catastrophes involve replication mechanisms generating complex genomic rearrangementsTwo sequential cleavage reactions on cruciform DNA structures cause palindrome-mediated chromosomal translocations.Error-Prone Repair of DNA Double-Strand Breaks.Single-stranded annealing induced by re-initiation of replication origins provides a novel and efficient mechanism for generating copy number expansion via non-allelic homologous recombination.Complex genomic rearrangements in the dystrophin gene due to replication-based mechanisms.Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutations.Novel mutations of PKD genes in the Czech population with autosomal dominant polycystic kidney disease.Ultrafine anaphase bridges, broken DNA and illegitimate recombination induced by a replication fork barrier.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.Aberrant firing of replication origins potentially explains intragenic nonrecurrent rearrangements within genes, including the human DMD gene.First description of ABCB4 gene deletions in familial low phospholipid-associated cholelithiasis and oral contraceptives-induced cholestasis.Interlocus gene conversion events introduce deleterious mutations into at least 1% of human genes associated with inherited diseaseSegmental duplication, microinversion, and gene loss associated with a complex inversion breakpoint region in Drosophila.Mechanisms for recurrent and complex human genomic rearrangements.FoSTeS, MMBIR and NAHR at the human proximal Xp region and the mechanisms of human Xq isochromosome formationIntragenic Deletions in ATP7B as an Unusual Molecular Genetics Mechanism of Wilson's Disease Pathogenesis.Comprehensive oligonucleotide array-comparative genomic hybridization analysis: new insights into the molecular pathology of the DMD gene.A novel large deletion mutation of FERMT1 gene in a Chinese patient with Kindler syndrome.Retrotransposon long interspersed nucleotide element-1 (LINE-1) is activated during salamander limb regeneration.Deletion of exon 8 from the EXT1 gene causes multiple osteochondromas (MO) in a family with three affected members.Molecular analysis of a deletion hotspot in the NRXN1 region reveals the involvement of short inverted repeats in deletion CNVs.Back to the origin: reconsidering replication, transcription, epigenetics, and cell cycle control.Identification of Intragenic Exon Deletions and Duplication of TCF12 by Whole Genome or Targeted Sequencing as a Cause of TCF12-Related Craniosynostosis.Generation of Gross Chromosomal Rearrangements by a Single Engineered DNA Double Strand Break.Gene conversion in human genetic disease.
P2860
Q26851352-A04C4757-4A2F-4B07-B863-AC71AB6767C5Q26865920-BE0DEBFF-312B-4906-985D-A24CAF49258BQ27012760-498F6ED0-B60C-4E4F-98C6-B3678E15899CQ27932385-92788E06-06C1-495C-ADE7-6A5F1B200F6DQ28484451-F8D1F84F-C43C-4CA7-A158-4F919523F7C8Q30694445-A151B981-FD1A-4845-A4AA-D86CC301EEEAQ30935536-FAD93B86-D38D-4BBE-87D8-D4188C8D5E29Q33587852-F287EA1B-6E3F-4589-A601-B87FC1E88B66Q33628938-D7DECE8F-35ED-48FC-91C8-1C7BA8DF318DQ33659569-EF96FC05-3094-4948-98CC-79E18B68EDAFQ33694621-20925809-1250-4E36-8C75-958B73703182Q33716590-940F188E-43AE-46B0-9212-7CE5D8A4A919Q33927021-2C33BF28-4F7C-4C91-B320-608D59DE3482Q33942525-3B1C89E2-8750-45C3-8353-C2FC0F3A3BD0Q34071394-BDBA7158-B124-4FD3-BFD6-0DC1EDEEAFB8Q34217081-D4857391-E5B0-4E63-A449-EE291CB8936BQ34332380-0A29F1D3-26B9-4AB1-8476-58DE9C31DC8DQ34478858-1C3EFC00-A82A-4318-9D16-1B07030CBA44Q34539939-3B1397AF-F009-4F21-AFBB-CAF175B4F100Q35000768-6C4E65EE-552C-489A-A558-07499F67919EQ35074267-7B1EAC88-880A-4A91-B359-DDC8242DE383Q35138042-8717DDC8-1A1C-4805-801C-E971B1C344EAQ35174775-6F18615A-0301-4B2A-9721-F481F694AE02Q35226155-2E90C2B0-2666-4398-9FB1-A0F6D5448708Q35634507-6278EFB9-3AD9-49ED-A355-D33094253D9AQ35768358-12112846-3E6C-4C81-8FD5-486F8FF1A25FQ35791522-B110E9C0-8D6E-491C-8E7F-9DF496F9DF76Q36032967-865B06B6-EE47-487C-8CB9-A449A973024AQ36044446-28D3FBBD-90EB-4B1F-9139-C8FDDC4CFE29Q36193571-B526C947-B9DC-455D-A22C-6E331AD05CF5Q36228224-8E63908E-19C5-45EA-9DEF-2DD723C158C3Q36253474-2FDC7C84-89D1-43E7-B53A-E2708632BD51Q36274598-16162144-7162-450F-BBE0-D7672294E0BEQ36485046-BE1DF854-2FAE-41A1-9FF8-EB22803A10B8Q36491488-A115F071-BE1D-4695-87F9-4F507FD8AED0Q36666968-102EF76F-46D2-4B00-96C2-5F3540C7DAF2Q36796433-DD6C6BF9-5D65-4C18-84DC-D7668C7951ECQ37105557-F2D55ED6-D9E1-4C80-A8EB-FEEA7B151E3DQ37657738-30E7A0B4-0A59-4FD4-BA1A-14C4FFFBA68EQ37664073-A523B5A7-5A43-43AC-A5F2-AAB8F68A6C98
P2860
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 09 June 2010
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Genomic rearrangements in inherited disease and cancer.
@en
Genomic rearrangements in inherited disease and cancer.
@nl
type
label
Genomic rearrangements in inherited disease and cancer.
@en
Genomic rearrangements in inherited disease and cancer.
@nl
prefLabel
Genomic rearrangements in inherited disease and cancer.
@en
Genomic rearrangements in inherited disease and cancer.
@nl
P2093
P1476
Genomic rearrangements in inherited disease and cancer.
@en
P2093
Claude Férec
George P Patrinos
Hildegard Kehrer-Sawatzki
Jian-Min Chen
P304
P356
10.1016/J.SEMCANCER.2010.05.007
P577
2010-06-09T00:00:00Z