Detalhe da pesquisa
1.
Zika virus infection during pregnancy and vertical transmission: case reports and peptide-specific cell-mediated immune responses.
Arch Virol
; 169(2): 32, 2024 Jan 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38243006
2.
Prenatal Diagnosis of COL4A1 Mutations in Eight Cases: Further Delineation of the Neurohistopathological Phenotype.
Pediatr Dev Pathol
; 25(4): 435-446, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35382634
3.
De novo mutations of SCN1A are responsible for arthrogryposis broadening the SCN1A-related phenotypes.
J Med Genet
; 58(11): 737-742, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32928894
4.
Two Novel Homozygous Mutations in Phosphoglucomutase 3 Leading to Severe Combined Immunodeficiency, Skeletal Dysplasia, and Malformations.
J Clin Immunol
; 41(5): 958-966, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33534079
5.
Second report of RING finger protein 113A (RNF113A) involvement in a Mendelian disorder.
Am J Med Genet A
; 182(3): 565-569, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31793730
6.
A case report of severe tuberous sclerosis complex detected in utero and linked to a novel duplication in the TSC2 gene.
BMC Neurol
; 20(1): 324, 2020 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32873234
7.
Homozygous/compound heterozygote RYR1 gene variants: Expanding the clinical spectrum.
Am J Med Genet A
; 179(3): 386-396, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30652412
8.
Neuropathology of holoprosencephaly.
Am J Med Genet C Semin Med Genet
; 178(2): 214-228, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30182440
9.
Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.
Am J Hum Genet
; 97(5): 744-53, 2015 Nov 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26477546
10.
Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis.
Genet Med
; 20(7): 745-753, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29261186
11.
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
12.
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
13.
Fetoscopic patch coverage of experimental myelomenigocele using a two-port access in fetal sheep.
Childs Nerv Syst
; 33(7): 1177-1184, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28550526
14.
Epileptic Phenotype of Two Siblings with Asparagine Synthesis Deficiency Mimics Neonatal Pyridoxine-Dependent Epilepsy.
Neuropediatrics
; 47(6): 399-403, 2016 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-27522229
15.
Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria.
J Med Genet
; 52(5): 303-11, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25650066
16.
Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly.
Am J Hum Genet
; 91(6): 1135-43, 2012 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-23217329
17.
Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome).
Am J Hum Genet
; 86(3): 471-8, 2010 Mar 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-20206334
18.
Neuropathological review of 138 cases genetically tested for X-linked hydrocephalus: evidence for closely related clinical entities of unknown molecular bases.
Acta Neuropathol
; 126(3): 427-42, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23820807
19.
Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies.
Brain
; 135(Pt 2): 469-82, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22323514
20.
Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations.
J Med Genet
; 49(11): 698-707, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23024289