Detalhe da pesquisa
1.
A severe neurocognitive phenotype caused by biallelic CHD3 variants in two siblings.
Am J Med Genet A
; 194(4): e63503, 2024 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-38116750
2.
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
3.
Chromosomal microarray testing yield in 829 cases of microcephaly: a clinical characteristics-based analysis for prenatal and postnatal cases.
Arch Gynecol Obstet
; 2024 Mar 18.
Artigo
Inglês
| MEDLINE | ID: mdl-38494511
4.
Possible biallelic inheritance in TIE1 in a family with congenital lymphedema, intestinal lymphangiectasia and cutis aplasia.
Clin Genet
; 104(2): 275-276, 2023 08.
Artigo
Inglês
| MEDLINE | ID: mdl-37096293
5.
A call for public funding of invasive and non-invasive prenatal testing.
J Perinat Med
; 51(8): 992-996, 2023 Oct 26.
Artigo
Inglês
| MEDLINE | ID: mdl-37207994
6.
The prevalence of prenatal sonographic findings in postnatal diagnostic exome sequencing performed for neurocognitive phenotypes: A cohort study.
Prenat Diagn
; 42(6): 717-724, 2022 05.
Artigo
Inglês
| MEDLINE | ID: mdl-35032046
7.
Large scale population screening for Duchenne muscular dystrophy-Predictable and unpredictable challenges.
Prenat Diagn
; 42(9): 1162-1172, 2022 08.
Artigo
Inglês
| MEDLINE | ID: mdl-35751502
8.
Prenatal and postnatal chromosomal microarray analysis in 885 cases of various congenital heart defects.
Arch Gynecol Obstet
; 306(4): 1007-1013, 2022 10.
Artigo
Inglês
| MEDLINE | ID: mdl-35083553
9.
When phenotype does not match genotype: importance of "real-time" refining of phenotypic information for exome data interpretation.
Genet Med
; 23(1): 215-221, 2021 01.
Artigo
Inglês
| MEDLINE | ID: mdl-32801363
10.
The diagnostic potential of targeted imaging of the fetal pancreas.
Prenat Diagn
; 41(7): 828-834, 2021 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-33778984
11.
The diagnostic efficacy of exome data analysis using fixed neurodevelopmental gene lists: Implications for prenatal setting.
Prenat Diagn
; 41(6): 701-707, 2021 May.
Artigo
Inglês
| MEDLINE | ID: mdl-33686681
12.
Chromosomal microarray should be performed for cases of fetal short long bones detected prenatally.
Arch Gynecol Obstet
; 303(1): 85-92, 2021 01.
Artigo
Inglês
| MEDLINE | ID: mdl-32761367
13.
The Yield of Chromosomal Microarray in Pregnancies Complicated with Fetal Growth Restriction Can Be Predicted According to Clinical Parameters.
Fetal Diagn Ther
; 48(2): 140-148, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-33352557
14.
Teaching clinicians practical genomic medicine: 7 years' experience in a tertiary care center.
Genet Med
; 22(10): 1703-1709, 2020 10.
Artigo
Inglês
| MEDLINE | ID: mdl-32616942
15.
The yield of chromosomal microarray testing for cases of abnormal fetal head circumference.
J Perinat Med
; 48(6): 553-558, 2020 04 28.
Artigo
Inglês
| MEDLINE | ID: mdl-32721143
16.
Does parity affect pregnancy outcomes in the elderly gravida?
Arch Gynecol Obstet
; 301(1): 85-91, 2020 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31768744
17.
The rare 13q33-q34 microdeletions: eight new patients and review of the literature.
Hum Genet
; 138(10): 1145-1153, 2019 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-31321490
18.
A new method for evaluating short fetal corpus callosum.
Prenat Diagn
; 39(13): 1283-1290, 2019 12.
Artigo
Inglês
| MEDLINE | ID: mdl-31671211
19.
Microarray findings in pregnancies with oligohydramnios - a retrospective cohort study and literature review.
J Perinat Med
; 48(1): 53-58, 2019 Dec 18.
Artigo
Inglês
| MEDLINE | ID: mdl-31811807
20.
Mutations in the fourth ß-propeller domain of LRP4 are associated with isolated syndactyly with fusion of the third and fourth fingers.
Hum Mutat
; 39(6): 811-815, 2018 06.
Artigo
Inglês
| MEDLINE | ID: mdl-29524275