Detalhe da pesquisa
1.
Copy number variants and fetal structural abnormalities in stillborn fetuses: A secondary analysis of the Stillbirth Collaborative Research Network study.
BJOG
; 131(2): 157-162, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37264725
2.
Trust in prenatal exome sequencing for expectant families facing unexplained fetal anomalies.
Prenat Diagn
; 44(3): 263-269, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38158591
3.
Fetal hyperechoic kidneys: Diagnostic considerations and genetic testing strategies.
Prenat Diagn
; 44(2): 222-236, 2024 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38279830
4.
A novel NONO nonsense variant in a fetus with renal abnormalities.
Prenat Diagn
; 44(1): 77-80, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38110236
5.
Diagnosis of single umbilical artery and risk of foetal congenital malformations by prenatal ultrasound: a retrospective study.
BMC Pregnancy Childbirth
; 24(1): 193, 2024 Mar 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38475732
6.
The Role of Preprocedure Genetic Counseling in Pregnancies Interrupted for Fetal Abnormalities.
Am J Perinatol
; 41(4): 383-394, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38154468
7.
[Efficiency of CNV-seq in detecting fetal DMD gene deletion or duplication in prenatal diagnosis].
Zhonghua Fu Chan Ke Za Zhi
; 59(4): 279-287, 2024 Apr 25.
Artigo
em Chinês
| MEDLINE | ID: mdl-38644274
8.
Prenatal diagnosis in the fetal hyperechogenic kidneys: assessment using chromosomal microarray analysis and exome sequencing.
Hum Genet
; 142(6): 835-847, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37095353
9.
Zika Virus Disease and Pregnancy Outcomes in Colombia.
N Engl J Med
; 383(6): 537-545, 2020 08 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32757522
10.
Association of deep phenotyping with diagnostic yield of prenatal exome sequencing for fetal brain abnormalities.
Genet Med
; 25(10): 100915, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37326029
11.
Report of new variants in PPIL1 underlying type 14 pontocerebellar hypoplasia and their associated phenotypic manifestations in two fetuses.
Am J Med Genet A
; 191(8): 2193-2197, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37159429
12.
The role of MRI in the prenatal diagnosis and classification of fetal microtia.
Eur Radiol
; 33(11): 7707-7715, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37311804
13.
Normal and abnormal appearance of fetal ganglionic eminence on second-trimester three-dimensional ultrasound.
Ultrasound Obstet Gynecol
; 62(3): 398-404, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37099497
14.
Prenatal exome sequencing analysis in fetuses with central nervous system anomalies.
Ultrasound Obstet Gynecol
; 62(5): 721-726, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37204857
15.
Spectrum of brain malformations in fetuses with mild tubulinopathy.
Ultrasound Obstet Gynecol
; 61(6): 740-748, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-36484554
16.
Halo sign in fetal cytomegalovirus infection: cerebral imaging abnormalities and postmortem histopathology in 35 infected fetuses.
Ultrasound Obstet Gynecol
; 61(6): 749-757, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-36730169
17.
Diagnostic yield and psychological outcomes among women pursuing trio-exome sequencing: Do women with recurrent anomalous fetal phenotypes experience more negative psychological outcomes?
Prenat Diagn
; 43(5): 569-578, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36690925
18.
All-in-one whole exome sequencing strategy with simultaneous copy number variant, single nucleotide variant and absence-of-heterozygosity analysis in fetuses with structural ultrasound anomalies: A 1-year experience.
Prenat Diagn
; 43(4): 527-543, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36647814
19.
Investigation into the genetics of fetal congenital lymphatic anomalies.
Prenat Diagn
; 43(6): 703-716, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36959127
20.
Fetal agenesis of the septum pellucidum: Ultrasonic diagnosis and clinical significance.
Prenat Diagn
; 43(6): 763-772, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36670513