Detalhe da pesquisa
1.
Exploring the factors affecting classification and reporting of uncertain prenatal microarray findings, using a "virtual fetus" model-a pilot study.
Prenat Diagn
; 44(4): 511-518, 2024 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-38353311
2.
The association between a carrier state of FMR1 premutation and numeric sex chromosome variations.
J Assist Reprod Genet
; 40(3): 683-688, 2023 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-36723762
3.
Residual risk for clinically significant copy number variants in low-risk pregnancies, following exclusion of noninvasive prenatal screening-detectable findings.
Am J Obstet Gynecol
; 226(4): 562.e1-562.e8, 2022 04.
Artigo
Inglês
| MEDLINE | ID: mdl-34762861
4.
Ante-natal counseling in phacomatoses.
Childs Nerv Syst
; 36(10): 2269-2277, 2020 10.
Artigo
Inglês
| MEDLINE | ID: mdl-32623496
5.
Dilemmas in genetic counseling for low-penetrance neuro-susceptibility loci detected on prenatal chromosomal microarray analysis.
Am J Obstet Gynecol
; 218(2): 247.e1-247.e12, 2018 02.
Artigo
Inglês
| MEDLINE | ID: mdl-29146387
6.
Association of aberrant right subclavian artery with abnormal karyotype and microarray results.
Prenat Diagn
; 37(8): 808-811, 2017 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-28618053
7.
Prenatal gender-customized head circumference nomograms result in reclassification of microcephaly and macrocephaly.
AJOG Glob Rep
; 3(1): 100171, 2023 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-36864987
8.
Prevalence of high-penetrant copy number variants in 7734 low-risk pregnancies.
Am J Obstet Gynecol MFM
; 5(12): 101201, 2023 12.
Artigo
Inglês
| MEDLINE | ID: mdl-37871696
9.
Chromosomal Microarray Analysis Compared With Noninvasive Prenatal Testing in Pregnancies With Abnormal Maternal Serum Screening.
Obstet Gynecol
; 139(5): 877-887, 2022 05 01.
Artigo
Inglês
| MEDLINE | ID: mdl-35576346
10.
Familial Beckwith-Wiedemann syndrome: Prenatal manifestation and a possible expansion of the phenotype.
Eur J Med Genet
; 64(2): 104137, 2021 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-33421606
11.
Improving renal phenotype and evolving extra-renal features of 17q12 deletion encompassing the HNF1B gene.
Transl Pediatr
; 10(12): 3130-3139, 2021 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-35070826
12.
The genetic and clinical outcome of isolated fetal muscular ventricular septal defect (VSD).
J Matern Fetal Neonatal Med
; 32(17): 2837-2841, 2019 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-29510647
13.
Preterm meconium-stained amniotic fluid is an ominous sign for the development of chorioamnionitis and for in utero cord compression.
J Matern Fetal Neonatal Med
; 30(17): 2042-2045, 2017 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-28282782