Detalhe da pesquisa
1.
The Diagnostic Yield of Prenatal Genetic Technologies in Congenital Heart Disease: A Prospective Cohort Study.
Fetal Diagn Ther
; : 1-8, 2021 Feb 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33550297
2.
Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study.
Lancet
; 393(10173): 747-757, 2019 02 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-30712880
3.
Evolution of a prenatal genetic clinic-A 10-year cohort study.
Prenat Diagn
; 40(5): 618-625, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32037575
4.
Exome Sequencing for Prenatal Detection of Genetic Abnormalities in Fetal Ultrasound Anomalies: An Economic Evaluation.
Fetal Diagn Ther
; 47(7): 554-564, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-31962312
5.
Molecular autopsy by trio exome sequencing (ES) and postmortem examination in fetuses and neonates with prenatally identified structural anomalies.
Genet Med
; 21(5): 1065-1073, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30293990
6.
Prenatal chromosomal microarray testing of fetuses with ultrasound structural anomalies: A prospective cohort study of over 1000 consecutive cases.
Prenat Diagn
; 39(12): 1064-1069, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31393021
7.
Parental experiences of prenatal whole exome sequencing (WES) in cases of ultrasound diagnosed fetal structural anomaly.
Prenat Diagn
; 37(12): 1225-1231, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29049852
8.
Prenatal whole exome sequencing: the views of clinicians, scientists, genetic counsellors and patient representatives.
Prenat Diagn
; 36(10): 935-941, 2016 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-27550507
9.
"If it helps..." the use of microarray technology in prenatal testing: patient and partners reflections.
Am J Med Genet A
; 161A(7): 1619-27, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23696517
10.
Second-trimester prenatal diagnosis of Nager syndrome with a deletion including SF3B4 detected by chromosomal microarray.
Clin Case Rep
; 8(3): 508-511, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-32185046
11.
Exome sequencing in the assessment of congenital malformations in the fetus and neonate.
Arch Dis Child Fetal Neonatal Ed
; 104(4): F452-F456, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-30816854
12.
Clinical utility of exome sequencing in the prenatal diagnosis of congenital anomalies: A Review.
Eur J Obstet Gynecol Reprod Biol
; 231: 19-24, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30317140
13.
The first antenatal diagnosis of KBG syndrome: a microdeletion at chromosome 16q24.2q24.3 containing multiple genes including ANKRD11 associated with the disorder.
Clin Case Rep
; 6(1): 189-191, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29375862
14.
Prenatal Detection of PIK3CA-related Overgrowth Spectrum in Cultured Amniocytes Using Long-range PCR and Next-generation Sequencing.
Pediatr Dev Pathol
; 20(1): 54-57, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28276293
15.
The experience of pregnant women with a diagnosis of fetal lower urinary tract obstruction (LUTO).
Midwifery
; 30(6): 636-42, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24290423