Cargando…
Copy number variations analysis in a cohort of 47 fetuses and newborns with congenital diaphragmatic hernia
OBJECTIVES: The congenital diaphragmatic hernia (CDH), characterized by malformation of the diaphragm and lung hypoplasia, is a common and severe birth defect that affects around 1 in 4000 live births. However, the etiology of most cases of CDH remains unclear. The aim of this study was to perform a...
Autores principales: | Boisson, Marie, Cordier, Anne‐Gael, Martinovic, Jelena, Receveur, Aline, Mouka, Aurélie, Diot, Romain, Egoroff, Catherine, Esnault, Geoffroy, Drévillon, Loïc, Benachi, Alexandra, Tachdjian, Gérard, Tosca, Lucie |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2022
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10100393/ https://www.ncbi.nlm.nih.gov/pubmed/36403094 http://dx.doi.org/10.1002/pd.6268 |
Ejemplares similares
-
Prenatal Diagnosis of a 2.5 Mb De Novo 17q24.1q24.2 Deletion Encompassing KPNA2 and PSMD12 Genes in a Fetus with Craniofacial Dysmorphism, Equinovarus Feet, and Syndactyly
por: Naud, Marie-Emmanuelle, et al.
Publicado: (2017) -
Induced pluripotent stem cell generation from a man carrying a complex chromosomal rearrangement as a genetic model for infertility studies
por: Mouka, Aurélie, et al.
Publicado: (2017) -
Surfactant Maturation Is Not Delayed in Human Fetuses with Diaphragmatic Hernia
por: Boucherat, Olivier, et al.
Publicado: (2007) -
Two new cases of interstitial 7q35q36.1 deletion including CNTNAP2 and KMT2C
por: Tosca, Lucie, et al.
Publicado: (2021) -
iPSCs derived from infertile men carrying complex genetic abnormalities can generate primordial germ-like cells
por: Mouka, Aurélie, et al.
Publicado: (2022)