scholarly article | Q13442814 |
P2093 | author name string | Hua Ren | |
Howard R Slater | |||
Damien L Bruno | |||
K H Andy Choo | |||
Jan Schouten | |||
Emma L Northrop | |||
James D R McGhie | |||
Jordi Coffa | |||
P2860 | cites work | Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification | Q24530153 |
Population data suggest that deletions of 1p36 are a relatively common chromosome abnormality | Q30825198 | ||
Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome | Q33904701 | ||
Telomeres: a diagnosis at the end of the chromosomes | Q35154981 | ||
Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation. | Q35439249 | ||
Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA). | Q35444544 | ||
Subtelomeric rearrangements in the mentally retarded: a comparison of detection methods. | Q36120016 | ||
Genomic deletions of MSH2 and MLH1 in colorectal cancer families detected by a novel mutation detection approach | Q36646164 | ||
The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation | Q38509518 | ||
Rapid, high throughput prenatal detection of aneuploidy using a novel quantitative method (MLPA). | Q42873893 | ||
Subtelomere specific microarray based comparative genomic hybridisation: a rapid detection system for cryptic rearrangements in idiopathic mental retardation | Q43073871 | ||
How microsatellite analysis can be exploited for subtelomeric chromosomal rearrangement analysis in mental retardation | Q43075668 | ||
Improved testing for CMT1A and HNPP using multiplex ligation-dependent probe amplification (MLPA) with rapid DNA preparations: comparison with the interphase FISH method | Q47228605 | ||
Prospective study comparing HR-CGH and subtelomeric FISH for investigation of individuals with mental retardation and dysmorphic features and an update of a study using only HR-CGH. | Q51941319 | ||
Subtelomeric deletions detected in patients with idiopathic mental retardation using multiplex ligation-dependent probe amplification (MLPA). | Q51944545 | ||
The use of telomere probes to investigate submicroscopic rearrangements associated with mental retardation | Q51948405 | ||
Subtelomeric rearrangements: results from a study of selected and unselected probands with idiopathic mental retardation and control individuals by using high-resolution G-banding and FISH | Q51962110 | ||
Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformations | Q51962113 | ||
A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardation. | Q51966476 | ||
Usefulness of high-resolution comparative genomic hybridization (CGH) for detecting and characterizing constitutional chromosome abnormalities | Q52113040 | ||
P433 | issue | 5 | |
P304 | page(s) | 477-486 | |
P577 | publication date | 2005-11-01 | |
P1433 | published in | Human Mutation | Q5937269 |
P1476 | title | Detection of cryptic subtelomeric chromosome abnormalities and identification of anonymous chromatin using a quantitative multiplex ligation-dependent probe amplification (MLPA) assay | |
P478 | volume | 26 |