Detalhe da pesquisa
1.
UBE2QL1 is disrupted by a constitutional translocation associated with renal tumor predisposition and is a novel candidate renal tumor suppressor gene.
Hum Mutat
; 34(12): 1650-61, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24000165
2.
Breakpoint mapping and array CGH in translocations: comparison of a phenotypically normal and an abnormal cohort.
Am J Hum Genet
; 82(4): 927-36, 2008 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-18371933
3.
Maternally inherited partial monosomy 9p (pter â p24.1) and partial trisomy 20p (pter â p12.1) characterized by microarray comparative genomic hybridization.
Am J Med Genet A
; 155A(11): 2754-61, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21948691
4.
Molecular cytogenetic analyses of breakpoints in apparently balanced reciprocal translocations carried by phenotypically normal individuals.
Eur J Hum Genet
; 13(11): 1205-12, 2005 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-16118644
5.
Massively parallel sequencing reveals the complex structure of an irradiated human chromosome on a mouse background in the Tc1 model of Down syndrome.
PLoS One
; 8(4): e60482, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23596509
6.
Auditory function in the Tc1 mouse model of down syndrome suggests a limited region of human chromosome 21 involved in otitis media.
PLoS One
; 7(2): e31433, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22348087
7.
A familial case with interstitial 2q36 deletion: variable phenotypic expression in full and mosaic state.
Eur J Med Genet
; 55(11): 660-5, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22820457
8.
Array painting: a protocol for the rapid analysis of aberrant chromosomes using DNA microarrays.
Nat Protoc
; 4(12): 1722-36, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19893508
9.
Finishing the finished human chromosome 22 sequence.
Genome Biol
; 9(5): R78, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-18477386
10.
Micro-array analyses decipher exceptional complex familial chromosomal rearrangement.
Hum Genet
; 119(1-2): 145-53, 2006 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-16395598
11.
Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination.
Am J Hum Genet
; 77(6): 966-87, 2005 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-16380909
12.
Genomic imbalances in CML blast crisis: 8q24.12-q24.13 segment identified as a common region of over-representation.
Genes Chromosomes Cancer
; 37(4): 346-58, 2003 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-12800146
13.
Cloning of a new familial t(3;8) translocation associated with conventional renal cell carcinoma reveals a 5 kb microdeletion and no gene involved in the rearrangement.
Hum Mol Genet
; 13(9): 983-90, 2004 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-15016767
14.
SmartCapture and the frontiers of FISH technology: report of the Digital Scientific UK SmartCapture User's Meeting, Peterhouse College Cambridge, UK, 2nd September 2005.
Chromosome Res
; 13(8): 835-8, 2005.
Artigo
em Inglês
| MEDLINE | ID: mdl-16331415