Cargando…
Prenatal diagnosis for de novo mutations: Experience from a tertiary center over a 10‐year period
BACKGROUND: This study summarizes the results of prenatal diagnosis due to a history of de novo mutation in a previous pregnancy, in a tertiary center in Israel, over a 10‐year period. METHODS: We sorted all cases of de novo mutations from a pool of 2,260 pregnancies for which prenatal molecular dia...
Autores principales: | Eyal, Ori, Berkenstadt, Michal, Reznik‐Wolf, Haike, Poran, Hana, Ziv‐Baran, Tomer, Greenbaum, Lior, Yonath, Hagit, Pras, Elon |
---|---|
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/PMC6465671/ https://www.ncbi.nlm.nih.gov/pubmed/30693677 http://dx.doi.org/10.1002/mgg3.573 |
Ejemplares similares
-
Evaluation of Diagnostic Yield in Fetal Whole-Exome Sequencing: A Report on 45 Consecutive Families
por: Greenbaum, Lior, et al.
Publicado: (2019) -
Fundus albipunctatus: novel mutations and phenotypic description of Israeli patients
por: Pras, Eran, et al.
Publicado: (2012) -
Cone-rod dystrophy and a frameshift mutation in the PROM1 gene
por: Pras, Eran, et al.
Publicado: (2009) -
Early and late manifestations of neuropathy due to HSPB1 mutation in the Jewish Iranian population
por: Greenbaum, Lior, et al.
Publicado: (2021) -
A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomalies
por: Pode-Shakked, Ben, et al.
Publicado: (2021)