Detalhe da pesquisa
1.
Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data.
Lancet
; 385(9975): 1305-14, 2015 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-25529582
2.
Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability.
Nat Genet
; 38(9): 1032-7, 2006 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-16906163
3.
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
4.
Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations.
Am J Hum Genet
; 84(6): 780-91, 2009 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-19500772
5.
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
6.
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
7.
Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators.
Hum Genet
; 126(6): 791-803, 2009 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-19685247
8.
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
9.
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
10.
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
11.
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
12.
Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants.
Nat Biotechnol
; 29(6): 512-20, 2011 May 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-21552272
13.
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
14.
Finishing the finished human chromosome 22 sequence.
Genome Biol
; 9(5): R78, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-18477386
15.
Characterization of a 3;6 translocation associated with renal cell carcinoma.
Genes Chromosomes Cancer
; 46(4): 311-7, 2007 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-17205537
16.
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
17.
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
18.
Chromosome paints from single copies of chromosomes.
Chromosome Res
; 12(2): 143-51, 2004.
Artigo
em Inglês
| MEDLINE | ID: mdl-15053484
19.
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
20.
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