Detalhe da pesquisa
1.
Whole Genome Sequencing, Focused Assays and Functional Studies Increasing Understanding in Cryptic Inherited Retinal Dystrophies.
Int J Mol Sci
; 23(7)2022 Mar 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-35409265
2.
A Paediatric Acute Promyelocytic Leukaemia Patient Harbouring a Cryptic PML-RARA Insertion due to a Complex Structural Chromosome 17 Rearrangement.
Cytogenet Genome Res
; 153(4): 181-189, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-29550828
3.
SNP chromosome microarray genotyping for detection of uniparental disomy in the clinical diagnostic laboratory.
Pathology
; 55(6): 818-826, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37414616
4.
A balanced paternal interchromosomal reciprocal insertion between 5q12.1q13.2 and 20p12.3p12.1 resulting in separate genetic conditions in two siblings.
Am J Med Genet A
; 170(7): 1930-3, 2016 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-27159256
5.
FISH analysis of brain smears obtained at intraoperative diagnosis - An accurate and fast method to detect 1p/19q-codeletion in gliomas.
J Clin Neurosci
; 92: 115-119, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34509237
6.
Paternally inherited submicroscopic duplication at 11p15.5 implicates insulin-like growth factor II in overgrowth and Wilms' tumorigenesis.
Cancer Res
; 67(5): 2360-5, 2007 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-17325026
7.
Chromosomal rearrangements and novel genes in disorders of eye development, cataract and glaucoma.
Twin Res Hum Genet
; 11(4): 412-21, 2008 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-18637741
8.
Apparently unrelated cytogenetic abnormalities among 462 probands referred for the detection of del(22q) by FISH.
Am J Med Genet
; 113(4): 346-50, 2002 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-12457406
9.
Use of FISH in an aggressive diffuse large B cell lymphoma.
Pathology
; 35(1): 90-2, 2003 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-12701697
10.
Two mosaic terminal inverted duplications arising post-zygotically: Evidence for possible formation of neo-telomeres.
Cell Chromosome
; 7: 1, 2008 Mar 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-18331649
11.
Deletion at 14q22-23 indicates a contiguous gene syndrome comprising anophthalmia, pituitary hypoplasia, and ear anomalies.
Am J Med Genet A
; 140(16): 1711-8, 2006 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-16835935
12.
Axenfeld-Rieger malformation and distinctive facial features: Clues to a recognizable 6p25 microdeletion syndrome.
Am J Med Genet A
; 132A(4): 381-5, 2005 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-15654696
13.
Three patients with terminal deletions within the subtelomeric region of chromosome 9q.
Am J Med Genet A
; 132A(4): 425-30, 2005 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-15633179
14.
Tumor protein D52 (TPD52) is overexpressed and a gene amplification target in ovarian cancer.
Int J Cancer
; 117(6): 1049-54, 2005 Dec 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-15986428
15.
Chromosome loops arising from intrachromosomal tethering of telomeres occur at high frequency in G1 (non-cycling) mitotic cells: Implications for telomere capture.
Cell Chromosome
; 3(1): 3, 2004 Sep 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-15453908
16.
Use of two FISH probes provides a cost-effective, simple protocol to exclude an imprinting centre defect in routine laboratory testing for suspected Prader-Willi and Angelman syndrome.
Ann Genet
; 45(4): 189-91, 2002.
Artigo
em Inglês
| MEDLINE | ID: mdl-12668166