Detalhe da pesquisa
1.
Copy number variations and clinical cytogenetic diagnosis of constitutional disorders.
Nat Genet
; 39(7 Suppl): S48-54, 2007 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-17597782
2.
Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia.
Am J Hum Genet
; 87(5): 618-30, 2010 Nov 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-21055719
3.
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.
Am J Hum Genet
; 86(5): 749-64, 2010 May 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-20466091
4.
Rapid aneusomy detection in products of conception using the KaryoLite™ BACs-on-Beads™ assay.
Prenat Diagn
; 33(1): 25-31, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23138848
5.
Prognostic value of an RNA expression signature derived from cell cycle proliferation genes in patients with prostate cancer: a retrospective study.
Lancet Oncol
; 12(3): 245-55, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21310658
6.
College of American Pathologists/American College of Medical Genetics proficiency testing for constitutional cytogenomic microarray analysis.
Genet Med
; 13(9): 765-9, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21633292
7.
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.
Genet Med
; 13(9): 777-84, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21844811
8.
Craniorachischisis and omphalocele in a stillborn cynomolgus monkey (Macaca fascicularis).
Am J Med Genet A
; 155A(6): 1367-73, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21567905
9.
Variability in interpreting and reporting copy number changes detected by array-based technology in clinical laboratories.
Genet Med
; 11(12): 866-73, 2009 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-19904209
10.
Comprehensive analysis of Wolf-Hirschhorn syndrome using array CGH indicates a high prevalence of translocations.
Eur J Hum Genet
; 16(1): 45-52, 2008 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-17726485
11.
How physicians use array comparative genomic hybridization results to guide patient management in children with developmental delay.
Genet Med
; 10(3): 181-6, 2008 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-18344707
12.
Co-occurrence of 4p16.3 deletions with both paternal and maternal duplications of 11p15: modification of the Wolf-Hirschhorn syndrome phenotype by genetic alterations predicted to result in either a Beckwith-Wiedemann or Russell-Silver phenotype.
Am J Med Genet A
; 146A(20): 2691-7, 2008 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18798325
13.
Homozygous deletions of a copy number change detected by array CGH: a new cause for mental retardation?
Am J Med Genet A
; 146A(15): 1903-10, 2008 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-18627067
14.
Genomic medicine in prenatal diagnosis.
Clin Obstet Gynecol
; 51(1): 62-73, 2008 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-18303500
15.
An inv(16) in Ph-negative cells of a chronic myelogenous leukemia patient after imatinib treatment.
Cancer Genet Cytogenet
; 174(1): 54-6, 2007 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-17350467
16.
A practical approach to the detection of prognostically significant genomic aberrations in multiple myeloma.
J Mol Diagn
; 7(5): 560-5, 2005 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-16258153
17.
Global hypomethylation is common in prostate cancer cells: a quantitative predictor for clinical outcome?
Cancer Genet Cytogenet
; 156(1): 31-6, 2005 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-15588853
18.
Cytogenetics and molecular genetics of cancer of the prostate.
Am J Med Genet
; 115(3): 150-6, 2002 Oct 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-12407695
19.
Multiple abnormalities detected by dye reversal genomic microarrays in prostate cancer: a much greater sensitivity than conventional cytogenetics.
Cancer Genet Cytogenet
; 154(2): 110-8, 2004 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-15474145
20.
Oligodendroglioma and juvenile pilocytic astrocytoma presenting as synchronous primary brain tumors. Case report with histological and molecular differentiation of the tumors and review of the literature.
J Neurosurg
; 100(4): 700-5, 2004 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-15070126