BAC microarray analysis of 15q11-q13 rearrangements and the impact of segmental duplications.
about
Polymorphic segmental duplications at 8p23.1 challenge the determination of individual defensin gene repertoires and the assembly of a contiguous human reference sequenceApplication of array-based comparative genomic hybridization to clinical diagnosticsCGHPRO -- a comprehensive data analysis tool for array CGH.The 15q11.2 BP1-BP2 microdeletion syndrome: a reviewSegmental duplications and copy-number variation in the human genome.De novo unbalanced translocations in Prader-Willi and Angelman syndrome might be the reciprocal product of inv dup(15)sLarge scale copy number variation (CNV) at 14q12 is associated with the presence of genomic abnormalities in neoplasiaDetailed analysis of 15q11-q14 sequence corrects errors and gaps in the public access sequence to fully reveal large segmental duplications at breakpoints for Prader-Willi, Angelman, and inv dup(15) syndromes.Genomic analysis of the chromosome 15q11-q13 Prader-Willi syndrome region and characterization of transcripts for GOLGA8E and WHCD1L1 from the proximal breakpoint regionNOTCH2 is neither rearranged nor mutated in t(1;19) positive oligodendrogliomas.Mapping segmental and sequence variations among laboratory mice using BAC array CGH.High-resolution molecular characterization of 15q11-q13 rearrangements by array comparative genomic hybridization (array CGH) with detection of gene dosageA genome-wide survey of structural variation between human and chimpanzee.A case of de novo duplication of 15q24-q26.3.Nine unknown rearrangements in 16p13.3 and 11p15.4 causing alpha- and beta-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification.Detection of genomic imbalances by array based comparative genomic hybridisation in fetuses with multiple malformationsIncreased CYFIP1 dosage alters cellular and dendritic morphology and dysregulates mTORPrenatal diagnosis of genomic disorders and chromosome abnormalities using array-based comparative genomic hybridization.Design, Construction and Validation of Targeted BAC Array-Based CGH Test for Detecting the Most Commons Chromosomal Abnormalities.Array comparative genomic hybridization and its applications in cancer.Array-based comparative genomic hybridization in clinical diagnosis.Identification of disease genes by whole genome CGH arrays.Evolution of prenatal genetics: from point mutation testing to chromosomal microarray analysis.Copy number changes and methylation patterns in an isodicentric and a ring chromosome of 15q11-q13: report of two cases and review of literature.Strategies for the detection of copy number and other structural variants in the human genome.A case of isodicentric chromosome 15 presented with epilepsy and developmental delayChallenges and standards in integrating surveys of structural variation.Microarray based comparative genomic hybridization testing in deletion bearing patients with Angelman syndrome: genotype-phenotype correlationsOligonucleotide arrays for high-resolution analysis of copy number alteration in mental retardation/multiple congenital anomalies.Detecting single DNA copy number variations in complex genomes using one nanogram of starting DNA and BAC-array CGH.Multiple genes in the 15q13-q14 chromosomal region are associated with schizophrenia.Genome structural variation discovery and genotypingFluorescence in situ hybridization techniques in medical diagnostics.Context-based FISH localization of genomic rearrangements within chromosome 15q11.2q13 duplicons.Recurrent 15q11.2 BP1-BP2 microdeletions and microduplications in the etiology of neurodevelopmental disorders.Clinical and genetic aspects of the 15q11.2 BP1-BP2 microdeletion disorder.Complex SNP-related sequence variation in segmental genome duplications.Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay.Clinical array comparative genomic hybridization: a new paradigm.Analysis of the Prader-Willi syndrome chromosome region using quantitative microsphere hybridization (QMH) array.
P2860
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P2860
BAC microarray analysis of 15q11-q13 rearrangements and the impact of segmental duplications.
description
2004 nî lūn-bûn
@nan
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
2004年论文
@zh
2004年论文
@zh-cn
name
BAC microarray analysis of 15q ...... act of segmental duplications.
@en
type
label
BAC microarray analysis of 15q ...... act of segmental duplications.
@en
prefLabel
BAC microarray analysis of 15q ...... act of segmental duplications.
@en
P2093
P356
P1476
BAC microarray analysis of 15q ...... act of segmental duplications.
@en
P2093
D G Albertson
E E Eichler
R D Nicholls
R Segraves
S Schwartz
P304
P356
10.1136/JMG.2003.013813
P407
P577
2004-03-01T00:00:00Z