Detalhe da pesquisa
1.
Neu Laxova syndrome and megacystis in the first trimester: Broadening the fetal phenotype.
Prenat Diagn
; 43(13): 1666-1670, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37964427
2.
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita.
J Med Genet
; 59(6): 559-567, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33820833
3.
Targeted next-generation sequencing in a large series of fetuses with severe renal diseases.
Hum Mutat
; 43(3): 347-361, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35005812
4.
Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants: A multicenter retrospective case series.
Prenat Diagn
; 42(1): 118-135, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34894355
5.
Loss-of-function mutations in KIF14 cause severe microcephaly and kidney development defects in humans and zebrafish.
Hum Mol Genet
; 28(5): 778-795, 2019 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30388224
6.
TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8A.
Hum Mutat
; 41(7): 1220-1225, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32227665
7.
Severe and progressive neuronal loss in myelomeningocele begins before 16 weeks of pregnancy.
Am J Obstet Gynecol
; 223(2): 256.e1-256.e9, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32283072
8.
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
9.
TCTN3 mutations cause Mohr-Majewski syndrome.
Am J Hum Genet
; 91(2): 372-8, 2012 Aug 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-22883145
10.
Preimplantation factor (PIF) promotes human trophoblast invasion.
Biol Reprod
; 91(5): 118, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25232018
11.
Inversion duplication deletions involving the long arm of chromosome 13: phenotypic description of additional three fetuses and genotype-phenotype correlation.
Am J Med Genet A
; 164A(10): 2504-9, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24975584
12.
Fetal phenotype associated with the 22q11 deletion.
Am J Med Genet A
; 164A(11): 2724-31, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25111715
13.
Expanding the phenotypic spectrum of LIG4 pathogenic variations: neuro-histopathological description of 4 fetuses with stenosis of the aqueduct.
Eur J Hum Genet
; 32(5): 545-549, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38351293
14.
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
15.
Application of a new molecular technique for the genetic evaluation of products of conception.
Prenat Diagn
; 33(1): 32-41, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23168908
16.
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
17.
IFITM1 inhibits trophoblast invasion and is induced in placentas associated with IFN-mediated pregnancy diseases.
iScience
; 26(7): 107147, 2023 Jul 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37434700
18.
Two novel variations p.(Ser1275Thr) and p.(Ser1275Arg) in FLT4 causing prenatal hereditary lymphedema type 1.
Birth Defects Res
; 115(5): 563-571, 2023 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36538874
19.
Diagnostic value of fetal autopsy after early termination of pregnancy for fetal anomalies.
PLoS One
; 17(10): e0275674, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36260644
20.
Megacystis in the first trimester of pregnancy: Prognostic factors and perinatal outcomes.
PLoS One
; 16(9): e0255890, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34492029