Analysis of copy number variation in the normal human population within a region containing complex segmental duplications on 22q11 using high-resolution array-CGH. (Q40277637)

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scientific article published on 18 May 2006

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English	Analysis of copy number variation in the normal human population within a region containing complex segmental duplications on 22q11 using high-resolution array-CGH.	scientific article published on 18 May 2006

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scholarly article

1 reference

Europe PubMed Central

19 September 2017

Analysis of copy number variation in the normal human population within a region containing complex segmental duplications on 22q11 using high-resolution array-CGH. (English)

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Europe PubMed Central

19 September 2017

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object named as

Jan P Dumanski

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Europe PubMed Central

19 September 2017

author name string

Cecilia de Bustos

1

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Europe PubMed Central

19 September 2017

Teresita Díaz de Ståhl

2

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Europe PubMed Central

19 September 2017

Arkadiusz Piotrowski

3

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Europe PubMed Central

19 September 2017

Kiran K Mantripragada

4

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Europe PubMed Central

19 September 2017

Patrick G Buckley

5

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Europe PubMed Central

19 September 2017

Eva Darai

6

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Europe PubMed Central

19 September 2017

Caisa M Hansson

7

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Europe PubMed Central

19 September 2017

Gintautas Grigelionis

8

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Europe PubMed Central

19 September 2017

Uwe Menzel

9

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Europe PubMed Central

19 September 2017

publication date

18 May 2006

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Europe PubMed Central

19 September 2017

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Europe PubMed Central

19 September 2017

88

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Europe PubMed Central

19 September 2017

2

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Europe PubMed Central

19 September 2017

152-162

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Europe PubMed Central

19 September 2017

Assembly of microarrays for genome-wide measurement of DNA copy number

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7 January 2021

Copy-number polymorphisms: mining the tip of an iceberg

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7 January 2021

Detection of large-scale variation in the human genome

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7 January 2021

Large-scale copy number polymorphism in the human genome

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7 January 2021

Segmental duplications and copy-number variation in the human genome

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7 January 2021

Localization of a putative low-penetrance ependymoma susceptibility locus to 22q11 using a chromosome 22 tiling-path genomic microarray.

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High-resolution gene copy number and expression profiling of human chromosome 22 in ovarian carcinomas

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A full-coverage, high-resolution human chromosome 22 genomic microarray for clinical and research applications

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High-resolution array-CGH profiling of germline and tumor-specific copy number alterations on chromosome 22 in patients affected with schwannomas.

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Segmental duplications: organization and impact within the current human genome project assembly

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Recent duplication, domain accretion and the dynamic mutation of the human genome

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Genome architecture, rearrangements and genomic disorders

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Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease

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Finishing the euchromatic sequence of the human genome

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Human-specific duplication and mosaic transcripts: the recent paralogous structure of chromosome 22.

1 reference

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Hotspots of mammalian chromosomal evolution

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BAC microarray analysis of 15q11-q13 rearrangements and the impact of segmental duplications

1 reference

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7 January 2021

High-resolution molecular characterization of 15q11-q13 rearrangements by array comparative genomic hybridization (array CGH) with detection of gene dosage

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7 January 2021

Identification of novel deletion breakpoints bordered by segmental duplications in the NF1 locus using high resolution array-CGH.

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7 January 2021

Development of NF2 gene specific, strictly sequence defined diagnostic microarray for deletion detection.

1 reference

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7 January 2021

Identification of genetic aberrations on chromosome 22 outside the NF2 locus in schwannomatosis and neurofibromatosis type 2.

1 reference

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7 January 2021

Exon array CGH: detection of copy-number changes at the resolution of individual exons in the human genome

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7 January 2021

DNA microarrays for comparative genomic hybridization based on DOP-PCR amplification of BAC and PAC clones

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7 January 2021

Sequence of the human lens beta B2-crystallin-encoding cDNA

1 reference

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7 January 2021

Linkage between the beta B2 and beta B3 crystallin genes in man and rat: a remnant of an ancient beta-crystallin gene cluster

1 reference

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7 January 2021

The second human beta B2-crystallin gene is a pseudogene

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Cloning of a novel member of the low-density lipoprotein receptor family

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LRP5 and Wnt signaling: a union made for bone

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Initial sequencing and analysis of the human genome

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An Alu Transposition Model for the Origin and Expansion of Human Segmental Duplications

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7 January 2021

Divergence time and population size in the lineage leading to modern humans

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Detailed assessment of chromosome 22 aberrations in sporadic pheochromocytoma using array-CGH.

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Steps involved in immortalization and tumorigenesis in human B-lymphoblastoid cell lines transformed by Epstein-Barr virus

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Clonal chromosomal aberrations accompanied by strong telomerase activity in immortalization of human B-lymphoblastoid cell lines transformed by Epstein-Barr virus

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Molecular cytogenetic analysis of breast cancer cell lines

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Autosomal dominant cerulean cataract is associated with a chain termination mutation in the human beta-crystallin gene CRYBB2

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A second gene for cerulean cataracts maps to the beta crystallin region on chromosome 22

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LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development

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Reduced affinity to and inhibition by DKK1 form a common mechanism by which high bone mass-associated missense mutations in LRP5 affect canonical Wnt signaling

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Expression of the type I diabetes-associated gene LRP5 in macrophages, vitamin A system cells, and the Islets of Langerhans suggests multiple potential roles in diabetes

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A unique form of autosomal dominant cataract explained by gene conversion between beta-crystallin B2 and its pseudogene

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Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation

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7 January 2021

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10.1016/J.YGENO.2006.03.016

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Europe PubMed Central

19 September 2017

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19 September 2017

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