Detalhe da pesquisa
1.
Androgenetic/Biparental Mosaic/Chimeric Conceptions With a Molar Component: A Diagnostic and Clinical Challenge.
Int J Gynecol Pathol
; 40(5): 510-517, 2021 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33075020
2.
Homozygous GLUL deletion is embryonically viable and leads to glutamine synthetase deficiency.
Clin Genet
; 98(6): 613-619, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32888207
3.
Diagnostic Utility of Pathological Investigations in Late Gestation Stillbirth: A Cohort Study.
Pediatr Dev Pathol
; 23(2): 96-106, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-31333057
4.
Practice guideline: joint CCMG-SOGC recommendations for the use of chromosomal microarray analysis for prenatal diagnosis and assessment of fetal loss in Canada.
J Med Genet
; 55(4): 215-221, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29496978
5.
DNA Genotyping of Suspected Partial Hydatidiform Moles Detects Clinically Significant Aneuploidy.
Int J Gynecol Pathol
; 36(3): 217-221, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-27636887
6.
A Reappraisal of the Incidence of Placental Hydatidiform Mole Using Selective Molecular Genotyping.
Int J Gynecol Cancer
; 26(7): 1345-50, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27258730
7.
Placental Molar Disease: What are the Benefits and Barriers to the Adoption of a Comprehensive Diagnostic Service?
Int J Gynecol Pathol
; 34(5): 411-8, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25851707
8.
QF-PCR rapid aneuploidy screen and aCGH analysis of cell free fetal (cff) DNA in supernatant of compromised amniotic fluids (AF).
Prenat Diagn
; 34(10): 970-6, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24801814
9.
Molecular Diagnosis of Placental Hydatidiform Mole: Innovation and Outcomes.
J Obstet Gynaecol Can
; 39(11): 1049-1052, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28757408
10.
Prenatal genomic microarray and sequencing in Canadian medical practice: towards consensus.
J Med Genet
; 52(9): 585-6, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26041758
11.
The Roberts syndrome/SC phocomelia spectrum--a case report of an adult with review of the literature.
Am J Med Genet A
; 152A(2): 472-8, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-20101700
12.
Fatal lung fibrosis associated with immunodeficiency and gonadal dysgenesis in 46XX sisters--a new syndrome.
Am J Med Genet A
; 146A(1): 8-14, 2008 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-17937424
13.
Cytogenetic aberrations and immunoglobulin VH gene mutations in clinically benign CD5- monoclonal B-cell lymphocytosis.
Am J Clin Pathol
; 128(2): 333-8, 2007 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-17638670
14.
PGD for a carrier of an intrachromosomal insertion using aCGH.
Syst Biol Reprod Med
; 60(6): 377-82, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25247722
15.
Development of a high-resolution Y-chromosome microarray for improved male infertility diagnosis.
Fertil Steril
; 101(4): 1079-1085.e3, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24462061
16.
A clinical algorithm for efficient, high-resolution cytogenomic analysis of uncultured perinatal tissue samples.
Eur J Med Genet
; 55(8-9): 446-54, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22612983
17.
Array-based genomic delineation of a familial duplication 11q14.1-q22.1 associated with recurrent depression.
Am J Med Genet B Neuropsychiatr Genet
; 141B(3): 214-9, 2006 Apr 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-16526031
18.
The role of Alu repeat clusters as mediators of recurrent chromosomal aberrations in tumors.
Genes Chromosomes Cancer
; 35(2): 97-112, 2002 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-12203773