Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements. - Wikidata - wikimedia - TriplyDB

Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements.

Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements.

http://www.wikidata.org/entity/Q33936335

about

Polymorphic segmental duplications at 8p23.1 challenge the determination of individual defensin gene repertoires and the assembly of a contiguous human reference sequence Evolution and functional divergence of NLRP genes in mammalian reproductive systems Extensive normal copy number variation of a beta-defensin antimicrobial-gene cluster.Genomewide linkage scan of 409 European-ancestry and African American families with schizophrenia: suggestive evidence of linkage at 8p23.3-p21.2 and 11p13.1-q14.1 in the combined sample.Association of neuregulin 1 with schizophrenia confirmed in a Scottish population Localization of a susceptibility gene for common forms of stroke to 5q12 Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia Evolution of olfactory receptor genes in the human genome Genome-wide detection of segmental duplications and potential assembly errors in the human genome sequence Gene conversion homogenizes the CMT1A paralogous repeats The gentle art of gene arrangement: the meaning of gene clusters Segmental duplications and copy-number variation in the human genome.Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation DNA sequence and analysis of human chromosome 8 Chromosomal Rearrangements as Barriers to Genetic Homogenization between Archaic and Modern Humans Contrasting Patterns of Evolutionary Diversification in the Olfactory Repertoires of Reptile and Bird Genomes Evidence of convergent evolution in humans and macaques supports an adaptive role for copy number variation of the β-defensin-2 gene De novo unbalanced translocations in Prader-Willi and Angelman syndrome might be the reciprocal product of inv dup(15)s Linkage disequilibrium in humans: models and data.Human chromosome 15q11-q14 regions of rearrangements contain clusters of LCR15 duplicons.Analysis of the largest tandemly repeated DNA families in the human genome.Evidence for large inversion polymorphisms in the human genome from HapMap data Inter-population variability of DEFA3 gene absence: correlation with haplotype structure and population variability.A palindrome-driven complex rearrangement of 22q11.2 and 8q24.1 elucidated using novel technologies MRPS18CP2 alleles and DEFA3 absence as putative chromosome 8p23.1 modifiers of hearing loss due to mtDNA mutation A1555G in the 12S rRNA gene.Analysis and application of European genetic substructure using 300 K SNP information.Jacobsen syndrome.Diagnosis and fine mapping of a deletion in distal 11q in two Chinese patients with developmental delay.Nucleotide, cytogenetic and expression impact of the human chromosome 8p23.1 inversion polymorphism.Inversion variants in the human genome: role in disease and genome architecture Enhanced genetic maps from family-based disease studies: population-specific comparisons.Lineage-specific evolution of the vertebrate Otopetrin gene family revealed by comparative genomic analyses From microscopes to microarrays: dissecting recurrent chromosomal rearrangements.A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome.Ethnicity and human genetic linkage maps.A 76-kb duplicon maps close to the BCR gene on chromosome 22 and the ABL gene on chromosome 9: possible involvement in the genesis of the Philadelphia chromosome translocation A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk Inversion of the Williams syndrome region is a common polymorphism found more frequently in parents of children with Williams syndrome.Transmitted duplication of 8p23.1-8p23.2 associated with speech delay, autism and learning difficulties A familial inverted duplication/deletion of 2p25.1-25.3 provides new clues on the genesis of inverted duplications.

P2860

Q21266611-5D4411B7-6752-4F74-92A2-9968B7C940BA Q21283838-A1C4E758-DB1F-4A26-851D-79BF6B722749 Q24532826-CE083B64-EA25-43E8-9012-F0E6A8B6C7FB Q24540539-E1AF05A3-4ABB-4E96-AEAE-5C8CF1F5B19B Q24561773-517D56E7-6872-4E30-A66C-271DDBB5F71A Q24632864-7B71BF36-700B-41F6-8060-FBD8132FE038 Q24650395-0010DBA3-A1B4-47FF-A7EA-CB599FE9C54C Q24683243-4225AF49-A4B7-4474-8FDA-6A986E1BBD37 Q24796448-6301BB59-5010-4833-B947-3E32516AF1C8 Q24797658-4C7931DB-4DC7-45FB-8624-1D09F07BEF27 Q24806567-61FD2372-2FD3-4F15-81DE-40238F0A9CF6 Q28253048-DAD9D389-D1E1-4F49-96E2-A03A739F4272 Q28258859-788BC89B-B3A9-4538-8628-85C2EDDA4ED5 Q28292530-D75BF7F4-4A31-408D-94E2-66BCE93F57C4 Q28596394-CA947EC8-D6B6-4C3D-AF22-E1621CF81BD4 Q28601002-212398F7-C707-4B21-B6DF-C3E4354F80D8 Q28650364-B3EEE8A0-8A7B-44A8-BD3E-248D74CDF637 Q28728448-536FD810-453B-4636-A726-C2A747EBD13C Q30654298-C7832691-D176-44BE-9356-3E6226673F5F Q30827417-8348FE25-A908-473D-B069-6CC4CC0A1BE7 Q30851540-74DA4592-C33E-4722-97F8-55E71A84D122 Q31087752-B3E3C711-2309-4198-B070-5A9C793CF233 Q33268776-EA090918-07F7-424C-964C-60530FB7EA8F Q33277820-63487CD7-0949-4D50-999F-875D8FD28EF5 Q33312080-828C371B-1EB5-4DDC-9FDD-E0B1250CE0C9 Q33315564-2B856810-69C0-4AFB-96E8-8B0EAA8F7044 Q33383588-1CA07045-103B-480C-8514-32B208C13518 Q33389877-D0AED87F-CB66-4D1F-B840-F78BCBBB4ECF Q33518545-A3323AC1-0DF7-40BA-AA12-E1433907B76B Q33762256-7B80F536-492E-4C39-895F-116DF751A665 Q33797390-B16928D6-27E0-495D-A69C-96FCB7904E2B Q33801727-D829771A-94FC-4652-84C8-CD0060C5575B Q33805828-3397F4BD-AF36-4A8F-82B3-CA08D4BA0F34 Q33930829-F834965A-75BE-4A9A-B3E0-A206835DB223 Q33938545-FD3C66BA-2093-487E-8411-7900E453821D Q34076060-171BBCD5-EDC2-4E2F-BE04-3432A617688E Q34091599-B1D2EA34-79A5-47C2-AEDA-1AFE091B0EFD Q34160703-1CD12840-850B-4A62-A5E4-5F57A6EA078A Q34325355-99FEB0DD-7FDB-47D1-8EA5-5B0D4AD4CE30 Q34325665-5C5A0259-6258-487F-A5A0-A67800BF5C0B

P2860

Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements.

http://www.wikidata.org/entity/Q33936335

description

2001 nî lūn-bûn

@nan

2001 թուականի Փետրուարին հրատարակուած գիտական յօդուած

@hyw

2001 թվականի փետրվարին հրատարակված գիտական հոդված

@hy

2001年の論文

@ja

2001年論文

@yue

2001年論文

@zh-hant

2001年論文

@zh-hk

2001年論文

@zh-mo

2001年論文

@zh-tw

2001年论文

@wuu

name

Olfactory receptor-gene cluste ...... mon chromosome rearrangements.

@ast

Olfactory receptor-gene cluste ...... mon chromosome rearrangements.

@en

type

label

Olfactory receptor-gene cluste ...... mon chromosome rearrangements.

@ast

Olfactory receptor-gene cluste ...... mon chromosome rearrangements.

@en

prefLabel

Olfactory receptor-gene cluste ...... mon chromosome rearrangements.

@ast

Olfactory receptor-gene cluste ...... mon chromosome rearrangements.

@en

P1433

Q33936335-F480F7AE-D1AC-4887-9794-1AC71EBE86E9

P1476

Q33936335-2409F066-9CFD-4993-A95B-F9884FD74C26

P2093

Q33936335-20DE0877-6084-4CF9-888E-C17A4A9BF6D4

Q33936335-21A3B67B-8B8F-4DE5-8DF5-DFE65CF84A83

Q33936335-2CD3EEF7-2641-4BA3-BFAB-47877D61AA58

Q33936335-526196D8-D25F-4151-8FD1-AEFC1A527626

Q33936335-8DDCDC3C-5AEA-4A56-B0AD-0F43839B7E66

Q33936335-A8D0240D-08E4-4E7E-A637-AC9A8DEADDA8

Q33936335-ACE1B58D-E21D-43CB-9065-AEFE8496F3C8

Q33936335-BC260E18-9DAF-45CC-A6AE-5AD1C656A004

Q33936335-C07BDE2E-44D9-402A-929D-963A9327907B

Q33936335-D2F45033-934C-485D-A8E7-ECAC450637BA

P2860

Q33936335-0700C236-9156-49C0-81D0-3976A6E4C2A9

Q33936335-22CEC0A4-1868-42B8-989F-275452A5EB19

Q33936335-3C2F37B0-E322-485B-B3D7-E8D34F101725

Q33936335-510F6FB0-2A12-4028-99BF-61DA382B05E1

Q33936335-57486BF4-A387-4DB9-9618-8298A7F93945

Q33936335-5FC0DAFF-2C13-4F94-B3DE-11FD75A4ABEE

Q33936335-66D98BDC-D972-4078-8BF6-4A1149E4BFBA

Q33936335-7242379F-37EB-4CBD-8B6D-7ABB4A7F8055

Q33936335-7B3E6859-B040-4A2F-B432-D28EC2F8376F

Q33936335-8AC275AC-A26E-4228-8A15-B4A4C0DC5FAA

P304

Q33936335-B6A3E795-4623-4896-917E-112D37A56611

P31

Q33936335-61670EFA-0258-4AAE-838F-7FB131C79009

P356

Q33936335-9B721D50-7AF1-4A7C-8200-35686570039B

P407

Q33936335-F74773EC-E3F9-4102-98F4-0D513011D1D8

P433

Q33936335-00EE83C2-2B5D-491E-A72B-B31BB6594470

P478

Q33936335-B7741507-7444-4FC7-9D62-CC01FDAD1D07

P577

Q33936335-F97F0212-3186-49AC-8355-E33DBEDC97F6

P5875

Q33936335-104E60E5-CFB9-4FFB-8F51-D6FFF62D6DBA

P698

Q33936335-10A8C1DD-1D3E-410A-96B1-B65FFF801D98

P932

Q33936335-7DC06A1E-1BF1-451A-A36E-598A40BC9D5B

P356

P1433

American Journal of Human Genetics

P1476

Olfactory receptor-gene cluste ...... mon chromosome rearrangements.

@en

P2093

Broman KW

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

Calvari V

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

Giglio S

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

Gimelli G

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

Giorda R

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

Larizza D

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

Ledbetter DH

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

Matsumoto N

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

Neumann T

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

Ohashi H

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

P2860

Characterization of the NPHP1 locus: mutational mechanism involved in deletions in familial juvenile nephronophthisis.

Large multi-chromosomal duplications encompass many members of the olfactory receptor gene family in the human genome.

A genomic region encompassing a cluster of olfactory receptor genes and a myosin light chain kinase (MYLK) gene is duplicated on human chromosome regions 3q13-q21 and 3p13.

Odorant receptor genes in humans.

Sequence, structure, and evolution of a complete human olfactory receptor gene cluster.

Structure of chromosomal duplicons and their role in mediating human genomic disorders.

Many paths to the top of the mountain: diverse evolutionary solutions to centromere structure.

Tightly clustered 11q23 and 22q11 breakpoints permit PCR-based detection of the recurrent constitutional t(11;22).

Delineation of the critical deletion region for congenital heart defects, on chromosome 8p23.1.

A selective difference between human Y-chromosomal DNA haplotypes.

P304

874-883

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

P31

scholarly article

P356

10.1086/319506

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

P407

P433

4

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

P478

68

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

P577

2001-02-26T00:00:00Z

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

P5875

25092612

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

P698

11231899

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

P932

1275641

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