about
Human genome sequencing in health and diseaseCrystal structures of DNA-Whirly complexes and their role in Arabidopsis organelle genome repairCopy number variants in obesity-related syndromes: review and perspectives on novel molecular approachesPhenotypic consequences of copy number variation: insights from Smith-Magenis and Potocki-Lupski syndrome mouse modelsA duplication CNV that conveys traits reciprocal to metabolic syndrome and protects against diet-induced obesity in mice and menStructural variation mutagenesis of the human genome: Impact on disease and evolution.CNVs in neuropsychiatric disordersRecurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head sizeHuman DHX9 helicase unwinds triple-helical DNA structuresDetecting non-allelic homologous recombination from high-throughput sequencing data.Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort.Simultaneous copy number losses within multiple subtelomeric regions in early-onset type 2 diabetes mellitusA common copy-number breakpoint of ERBB2 amplification in breast cancer colocalizes with a complex block of segmental duplications.Identification of structural variation in mouse genomes.Evolution in health and medicine Sackler colloquium: Genetic architecture of a complex trait and its implications for fitness and genome-wide association studies.Evolution in health and medicine Sackler colloquium: Genomic disorders: a window into human gene and genome evolution.Copy number variation in human health, disease, and evolution.The landscape of inherited and de novo copy number variants in a Plasmodium falciparum genetic cross.Genitourinary defects associated with genomic deletions in 2p15 encompassing OTX1.Genomic hypomethylation in the human germline associates with selective structural mutability in the human genome.Neurogenetics: advancing the "next-generation" of brain research.A multilevel model to address batch effects in copy number estimation using SNP arrays.On the spot: very local chromosomal rearrangements.Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability.Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain.The phenotype of recurrent 10q22q23 deletions and duplications.A Likelihood-Based Framework for Association Analysis of Allele-Specific Copy Numbers.Frequent loss of genome gap region in 4p16.3 subtelomere in early-onset type 2 diabetes mellitus.Genomic medicine and neurological disease.Detection of clinically relevant exonic copy-number changes by array CGH.Structural variation of the human genome: mechanisms, assays, and role in male infertilitySingle gene disorders come into focus--again.Frequency of nonallelic homologous recombination is correlated with length of homology: evidence that ectopic synapsis precedes ectopic crossing-over.Complex human chromosomal and genomic rearrangements.Mechanisms for recurrent and complex human genomic rearrangements.Non-coding genetic variants in human disease.Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome.Clinical applications of schizophrenia genetics: genetic diagnosis, risk, and counseling in the molecular eraHuman subtelomeric copy number gains suggest a DNA replication mechanism for formation: beyond breakage-fusion-bridge for telomere stabilization.
P2860
Q22065433-DCE58DE2-C0CE-4BAC-A36A-714A8B1E3603Q24602012-18049C0D-6180-4276-BE93-4C4B401CBAEDQ27005637-F031F06E-3103-42B7-BC20-AD0F6E76FB77Q27322785-50104C0B-CE21-442F-838A-6B5E847A1598Q27333802-5D727FFA-A2F3-4232-8777-DEFF9990E6B4Q27691419-655DB119-FA48-4EEA-A886-869B5735902DQ28083143-18BD199C-DB68-44E7-BC47-88C106693B15Q29544005-6FB89A65-6249-47EB-9EF1-D211DE5E7C93Q30090219-7B5A481A-9597-436E-B4BB-98C79E15B7D9Q30935536-0E269EBB-B47D-4B70-9634-DF7C043065D2Q31149204-066BA81C-0982-48AE-852F-475BDF99B03DQ31158031-808073BB-3EC0-4F6C-B202-F08AA78A681FQ33739397-AA4625BE-1127-4F68-BF42-40E3B454BA30Q33836160-B1F42BA7-6F72-49DF-95AD-397998056D8CQ33844411-C5E16D10-90FD-4EA9-A870-C85CEB1FA378Q33844453-3488D784-3225-42E1-B147-015DA3EE6378Q34019142-893C4E63-3E53-44C7-9208-51DBB1FA6825Q34026930-8E125488-63E9-406E-B382-47DEF7F308A6Q34156049-D71BF150-A0AC-4327-9009-10ED382EB42BQ34277089-0DADADEA-F38A-4813-BAA1-C93F9920B392Q34315505-28B2906A-6F11-4ED1-A371-8379B4FDF4E4Q34425384-BD838DC8-445E-4CD5-A0D8-E22BFAB34282Q34493618-4AF247D7-289E-4234-80CD-16CAA8C3CD20Q34544478-D8465FA1-9B2E-4290-B745-C2FC9B3DB164Q34629238-CFD997F2-1831-4E6D-BEAE-1A38EC54DCF5Q34694730-B7B546C8-7F08-460B-B703-EA1BFFB13C58Q35043222-E1A84349-FC45-49D9-8617-AC4E3BB5F39FQ35094193-2822A6CC-592F-4F5B-8AA7-0EBF7853C367Q35097544-5A5FEA53-DC48-47B2-B1D1-C479A3E239F4Q35172112-2C7BAB00-5DCF-4C60-83FA-9E5382986911Q35230286-BDAE268E-5F01-4C37-B858-4887C12EA4D6Q35237181-E2B6702B-870A-4A92-BADA-235144A1D362Q35286506-9E1E1EF8-EFE8-4579-BE7D-F2A6E121F324Q35731269-EBAE6142-36AD-45DF-B2C5-6AA2FC203ADBQ36044446-C7F4C038-A779-4B35-AA52-68415A54C43FQ36065325-2353B76E-4710-4FFD-868E-10CA1A6F67D0Q36083125-C41F93F4-B4C6-45F1-A56A-5167AA260163Q36339846-2C83C4BA-5CEB-4F93-9721-6DAF005DB0ACQ36380279-19C1546F-CB99-4A67-82B5-EA5B2731DE65Q36385065-72148115-3176-4DFF-880D-10587C779BC8
P2860
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 24 April 2009
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Genomic disorders ten years on.
@en
Genomic disorders ten years on.
@nl
type
label
Genomic disorders ten years on.
@en
Genomic disorders ten years on.
@nl
prefLabel
Genomic disorders ten years on.
@en
Genomic disorders ten years on.
@nl
P2860
P356
P1433
P1476
Genomic disorders ten years on.
@en
P2093
James R Lupski
P2860
P2888
P356
10.1186/GM42
P577
2009-04-24T00:00:00Z
P5875
P6179
1024132600