Cargando…
The frequency of CNVs in a cohort population of consecutive fetuses with congenital anomalies after the termination of pregnancy
BACKGROUND: The implementation of molecular karyotyping has resulted in an improved diagnostic yield in the genetic diagnostics of congenital anomalies, detected prenatally or after the termination of pregnancy. However, the systematic epidemiologic ascertainment of copy number variations in the eti...
Autores principales: | Rudolf, Gorazd, Lovrečić, Luca, Tul, Nataša, Teran, Nataša, Peterlin, Borut |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2019
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6565594/ https://www.ncbi.nlm.nih.gov/pubmed/31004418 http://dx.doi.org/10.1002/mgg3.658 |
Ejemplares similares
-
Direct-to-consumer genetic testing in Slovenia: availability, ethical dilemmas and legislation
por: Vrecar, Irena, et al.
Publicado: (2015) -
Brachytelephalangic chondrodysplasia punctata caused by new small hemizygous deletion in a boy presenting with hearing loss
por: Vrečar, Irena, et al.
Publicado: (2015) -
Clinical utility of array comparative genomic hybridisation in prenatal setting
por: Lovrecic, Luca, et al.
Publicado: (2016) -
Impact of prenatal screening on the prevalence of Down syndrome in Slovenia
por: Rudolf, Gorazd, et al.
Publicado: (2017) -
Simultaneous Detection of CNVs and SNVs Improves the Diagnostic Yield of Fetuses with Ultrasound Anomalies and Normal Karyotypes
por: Qi, Qingwei, et al.
Publicado: (2020)