Detalhe da pesquisa
1.
Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C.
J Med Genet
; 60(10): 1026-1034, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37197783
2.
Investigating genotype-to-phenotype correlation in CHARGE syndrome by deep phenotyping and multiparametric clustering.
Clin Genet
; 104(4): 466-471, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37243350
3.
A Cockayne-like phenotype resulting from a de novo variant in MORC2: expanding the phenotype of MORC2-related disorders.
Neurogenetics
; 23(4): 271-274, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35920923
4.
The incidence and carrier frequency of Tay-Sachs disease in the French-Canadian population of Quebec based on retrospective data from 24 years, 1992-2015.
J Genet Couns
; 29(6): 1173-1185, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32302469
5.
No. 380-Investigation and Management of Prenatally Identified Microcephaly.
J Obstet Gynaecol Can
; 41(6): 855-861, 2019 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-31126434
6.
No 380 - Évaluation et prise en charge de la microcéphalie détectée avant la naissance.
J Obstet Gynaecol Can
; 41(6): 862-869, 2019 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-31126435
7.
GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.
J Med Genet
; 54(7): 460-470, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28377535
8.
No. 363-Investigation and Management of Non-immune Fetal Hydrops.
J Obstet Gynaecol Can
; 40(8): 1077-1090, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30103882
9.
N° 363 - Évaluation et prise en charge de l'anasarque fÅtoplacentaire non immune.
J Obstet Gynaecol Can
; 40(8): 1091-1107, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29980442
10.
No. 365-Fetal and Perinatal Autopsy in Prenatally Diagnosed Fetal Abnormalities with Normal Chromosome Analysis.
J Obstet Gynaecol Can
; 40(10): 1358-1366.e5, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30390949
11.
N° 365 -Autopsies fÅtales et périnatales en cas d'anomalies fÅtales diagnostiquées avant la naissance avec une analyse chromosomique normale.
J Obstet Gynaecol Can
; 40(10): 1367-1377.e6, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30390950
12.
No. 348-Joint SOGC-CCMG Guideline: Update on Prenatal Screening for Fetal Aneuploidy, Fetal Anomalies, and Adverse Pregnancy Outcomes.
J Obstet Gynaecol Can
; 39(9): 805-817, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28859766
13.
Joint SOGC-CCMG Opinion for Reproductive Genetic Carrier Screening: An Update for All Canadian Providers of Maternity and Reproductive Healthcare in the Era of Direct-to-Consumer Testing.
J Obstet Gynaecol Can
; 38(8): 742-762.e3, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27638987
14.
A Review of the Clinical Features and Management of Systemic Congenital Mastocytosis through the Presentation of An Unusual Prenatal-Onset Case.
Curr Oncol
; 30(10): 8992-9003, 2023 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37887549
15.
Severe Antenatal Hypertrophic Cardiomyopathy Secondary to ACAD9-Related Mitochondrial Complex I Deficiency.
Mol Syndromol
; 14(2): 101-108, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37064341
16.
Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicated in the leukemia-related JAK-STAT pathway.
Eur J Med Genet
; 66(1): 104670, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36414205
17.
Report on the p.Ser489X (p.Ser489*) CFTR mutation, a variant with severe associated phenotype and high prevalence in a Quebec French-Canadian cystic fibrosis patient population.
Genet Med
; 14(10): 883-6, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22627569
18.
No 348-Directive clinique de la SOGC et du CCGM : mise à jour sur le dépistage prénatal de l'aneuploïdie fÅtale, des anomalies fÅtales et des issues défavorables de la grossesse.
J Obstet Gynaecol Can
; 39(9): 818-832, 2017 Sep.
Artigo
em Francês
| MEDLINE | ID: mdl-28859767
19.
Opinion commune de la SOGC et du CCGM sur le dépistage génétique en contexte de procréation : Mise à jour à l'intention de l'ensemble des prestataires canadiens de soins de santé maternelle et de services en procréation, à l'ère des tests offerts directement aux consommateurs.
J Obstet Gynaecol Can
; 38(8): 763-787.e4, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27638988
20.
MALDI-TOF mass array analysis of RASSF1A and SERPINB5 methylation patterns in human placenta and plasma.
Biol Reprod
; 82(4): 745-50, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-20075396