Genome architecture catalyzes nonrecurrent chromosomal rearrangements - Wikidata - wikimedia - TriplyDB

Genome architecture catalyzes nonrecurrent chromosomal rearrangements

Genome architecture catalyzes nonrecurrent chromosomal rearrangements

http://www.wikidata.org/entity/Q33904646

about

Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes Mechanisms of change in gene copy number The Arabidopsis lyrata genome sequence and the basis of rapid genome size change CNV and nervous system diseases--what's new?Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum Segmental duplications and copy-number variation 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 In with the old, in with the new: the promiscuity of the duplication process engenders diverse pathways for novel gene creation Copy-number gains of HUWE1 due to replication- and recombination-based rearrangements The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy.PacBio-LITS: a large-insert targeted sequencing method for characterization of human disease-associated chromosomal structural variations Genome-wide mapping and assembly of structural variant breakpoints in the mouse genome The jewels of our genome: the search for the genomic changes underlying the evolutionarily unique capacities of the human brain.A microhomology-mediated break-induced replication model for the origin of human copy number variation.Identification of copy number variants defining genomic differences among major human groups Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities.Copy neutral loss of heterozygosity: a novel chromosomal lesion in myeloid malignancies Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2.The breakpoint region of the most common isochromosome, i(17q), in human neoplasia is characterized by a complex genomic architecture with large, palindromic, low-copy repeats Dic(17;18)(p11.2;p11.2) is a recurring abnormality in chronic lymphocytic leukaemia associated with aggressive disease.Copy number variation in human health, disease, and evolution.Large inverted repeats within Xp11.2 are present at the breakpoints of isodicentric X chromosomes in Turner syndrome.The role of rare structural variants in the genetics of autism spectrum disorders.Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements Screening of Duchenne muscular dystrophy (DMD) mutations and investigating its mutational mechanism in Chinese patients.Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability.Concurrent triplication and uniparental isodisomy: evidence for microhomology-mediated break-induced replication model for genomic rearrangements.Disorders caused by chromosome abnormalities.Identification of intragenic deletions and duplication in the FLCN gene in Birt-Hogg-Dubé syndrome.Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture.Mouse models of genomic syndromes as tools for understanding the basis of complex traits: an example with the smith-magenis and the potocki-lupski syndromes 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.Frequency of nonallelic homologous recombination is correlated with length of homology: evidence that ectopic synapsis precedes ectopic crossing-over.Comparative genomic hybridisation using a proximal 17p BAC/PAC array detects rearrangements responsible for four genomic disorders.Copy Number Variation at the APOL1 Locus.Unbalanced segregation of a complex four-break 5q23-31 insertion in the 5p13 band in a malformed child.Non-B DNA conformations, genomic rearrangements, and human disease.

P2860

Q21145278-E1B60424-B986-4F77-BA32-5CE7678ED134 Q22122003-66340E7C-1672-4742-A421-1F115015C14E Q22122056-EB5F6166-3437-45DF-B982-D7B3D7DAD917 Q24632941-56E59A36-0BC1-43CA-9922-F703F44FDAC4 Q24646722-573C97E9-7F60-4DE2-8AA4-BD8ED7A9AD3A Q24683002-A0FFBC63-D78B-420A-8A88-1C94B4A083D5 Q28252393-E94DCDC0-3155-4410-A68F-E302D78512F7 Q28253048-B2309627-2461-40DD-87D6-619D552FBA9E Q28262271-5BEE54E3-6823-4091-9DE0-92247CAC68D9 Q28727624-20EBDE0C-6BF0-4490-8868-BDDDB9594DAF Q28728525-49F1FE3F-0E2D-4D62-9DD4-A63CF7B070E8 Q30379223-9E885F71-9A8A-463F-A523-5D94FCE8849A Q30415792-A3DA4743-7B45-4857-8B9D-E0B35136552C Q30434301-39CB53B2-2F3E-4DE3-8AF8-0CA5C732154E Q33245079-2E4CB9C5-40D8-4185-8A20-8E6D675BE9E4 Q33404060-29FECA7B-EBDE-4459-BC39-BAEDAC45B4D3 Q33507516-167CD015-422F-4B16-AD24-E44249CEAA9D Q33708568-8996864D-3285-44D8-8773-1604672F3B02 Q33708603-AFDEB3D6-7EB0-48CE-AA71-5987E99F935E Q33788643-3AF437BB-A8AE-4819-95B4-2B3A7A34EC22 Q33905308-AE80F7A9-B766-408B-83A5-A2A4166CCED0 Q33909470-7BCD4E97-48B2-40F6-B25C-3C1212772A7E Q33987045-E14F4C65-6034-464C-84FC-3C91CD492416 Q34019142-9B799291-44D7-45A4-8B2F-63BB9CD87A7A Q34046894-FB79C88E-A7D9-420F-81B9-55BAFE3AEC61 Q34060416-4E322FE3-555C-4D9D-9A46-44BB1A43D5D0 Q34217081-E396389C-A451-4F67-8C2E-1302F4E8803B Q34227098-8C6C18CC-6D98-4B2C-A552-F05D18123D36 Q34544478-7D312F4A-8329-4665-8C6A-5B46926FD545 Q34705056-8D3445CA-619E-4E73-AF38-B6DC33CC0776 Q34775497-B132D333-99A9-47A7-842D-5E677A7E87BF Q34785861-222A2CE2-83FC-4810-A767-E9C8D24A82B1 Q34990719-70BEB20C-19C7-4794-8B2A-8BB00C83AB25 Q35015379-A329E47D-EBBC-49FC-9181-373C73C879E5 Q35226155-741DFE33-CE0B-4A8C-95B5-FBBB078BEB7A Q35286506-B59A251F-86CB-4093-AD17-6097720975C1 Q35444636-CF832305-989B-4EEF-BDDD-A479ABBA178F Q35560840-2173DAC8-65DE-4BA1-8F59-887F444AC40A Q35726325-AAE4D1A5-B7CF-478E-BF4F-7641501BFF38 Q35869768-FA0312D1-2E2B-4242-964D-99B176806111

P2860

Genome architecture catalyzes nonrecurrent chromosomal rearrangements

http://www.wikidata.org/entity/Q33904646

description

2003 nî lūn-bûn

@nan

2003 թուականի Մարտին հրատարակուած գիտական յօդուած

@hyw

2003 թվականի մարտին հրատարակված գիտական հոդված

@hy

2003年の論文

@ja

2003年論文

@yue

2003年論文

@zh-hant

2003年論文

@zh-hk

2003年論文

@zh-mo

2003年論文

@zh-tw

2003年论文

@wuu

name

Genome architecture catalyzes nonrecurrent chromosomal rearrangements

@ast

Genome architecture catalyzes nonrecurrent chromosomal rearrangements

@en

type

label

Genome architecture catalyzes nonrecurrent chromosomal rearrangements

@ast

Genome architecture catalyzes nonrecurrent chromosomal rearrangements

@en

prefLabel

Genome architecture catalyzes nonrecurrent chromosomal rearrangements

@ast

Genome architecture catalyzes nonrecurrent chromosomal rearrangements

@en

P1433

Q33904646-920F1EF3-2913-4C0F-AA98-FBDEF7FE53BB

P1476

Q33904646-EB50FDF7-02BB-499A-8006-B53DD3081950

P2093

Q33904646-02322E18-54FA-4A50-986F-9A42D9CEEF84

Q33904646-07937B55-63E2-4914-80F3-2361244CF0E1

Q33904646-5196E2D5-BD0E-4CFD-9453-3119000297D9

Q33904646-6F2790CE-B7CC-4C4F-B4F7-2B02D57B8A0D

Q33904646-BE8AA88C-005D-48CE-8FA0-19C0673C128D

Q33904646-D0FBA970-7F25-4802-8915-49BC3715A231

Q33904646-DC02B5FE-67AA-4A51-9338-93235781B41D

Q33904646-F371A299-0273-4C18-9513-552360A4A621

Q33904646-F5675F1C-660A-452B-A722-D2DE13EE61EA

P2860

Q33904646-008821B8-4EC0-4E0F-BE85-49D18BC835B0

Q33904646-03611017-8B77-48C0-A677-BE7BF5365420

Q33904646-074701FF-3E3D-4398-ABB8-973F351BE1BB

Q33904646-13A99C42-1472-4AA8-9119-4E7954FCBA37

Q33904646-21D1052F-F230-4348-8E14-DC46642AE202

Q33904646-2853C89A-FA2F-42D7-9215-B4AA0C7151C5

Q33904646-2C098FE0-9341-4F74-8D34-5624CC405028

Q33904646-2FDBA406-E6C6-4545-AD8B-77656B8CAE85

Q33904646-301B7984-799F-45BB-95C7-1D878812C604

Q33904646-325B2D7A-85C6-413B-8F75-F9A215090733

P304

Q33904646-2F4553E9-D858-4A95-B7B1-5934D33FCB24

P31

Q33904646-E731860D-37A4-475D-BC5B-3532BD39CBD6

P356

Q33904646-615C215A-EDB3-40D9-AE8B-138C219256DD

P407

Q33904646-47E35C29-77E7-4472-A86A-174F94D3C24F

P433

Q33904646-814495E7-3AF8-4B67-9153-79E5514C1FBD

P478

Q33904646-5A4E1E21-1879-4BF4-9BFE-C001F4AE3B06

P577

Q33904646-07AA6793-D3DB-4D00-A9E0-48271A9D7E26

P5875

Q33904646-546CCF68-19EE-4D81-B262-B3402F0A2215

P698

Q33904646-BDFD8C39-0075-40F5-94AE-BDC7A97EADB5

P932

Q33904646-6153DEC1-6F90-4946-ACB3-47C28E257D24

P356

P1433

American Journal of Human Genetics

P1476

Genome architecture catalyzes nonrecurrent chromosomal rearrangements

@en

P2093

Christine J Shaw

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

James R Lupski

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

Jason D Dapper

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

Keiko Wakui

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

Leah Elizondo

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

Lisa G Shaffer

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

Marjorie Withers

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

Paweł Stankiewicz

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

Sung-Sup Park

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

P2860

Initial sequencing and analysis of the human genome

The Sequence of the Human Genome

Genomic disorders on 22q11

Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse

Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A

Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion

Genome architecture, rearrangements and genomic disorders

Centric and pericentric chromosome rearrangements in hematopoietic malignancies.

Molecular mechanisms for constitutional chromosomal rearrangements in humans.

The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes.

P304

1101-1116

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

P31

scholarly article

P356

10.1086/374385

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

P407

P433

5

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

P478

72

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

P577

2003-03-20T00:00:00Z

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

P5875

10844503

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

P698

12649807

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

P932

1180264

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