Cargando…
Gene dosage as a relevant mechanism contributing to the determination of ovarian function in Turner syndrome
STUDY QUESTION: What is the burden of X chromosome mosaicism in the occurrence of spontaneous menarche (SM) in Turner syndrome (TS)? SUMMARY ANSWER: SM was significantly associated with X chromosome mosaicism in the TS patients; a mosaicism with around 10% euploid cell line may predict spontaneous p...
Autores principales: | Castronovo, Chiara, Rossetti, Raffaella, Rusconi, Daniela, Recalcati, Maria P., Cacciatore, Chiara, Beccaria, Elena, Calcaterra, Valeria, Invernizzi, Pietro, Larizza, Daniela, Finelli, Palma, Persani, Luca |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2014
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3896225/ https://www.ncbi.nlm.nih.gov/pubmed/24324027 http://dx.doi.org/10.1093/humrep/det436 |
Ejemplares similares
-
Segmental Maternal UPD of Chromosome 7q in a Patient With Pendred and Silver Russell Syndromes-Like Features
por: Cirello, Valentina, et al.
Publicado: (2018) -
Familial intragenic duplication of ANKRD11 underlying three patients of KBG syndrome
por: Crippa, Milena, et al.
Publicado: (2015) -
Blood Cell Mitochondrial DNA Content and Premature Ovarian Aging
por: Bonomi, Marco, et al.
Publicado: (2012) -
Design and validation of a pericentromeric BAC clone set aimed at improving diagnosis and phenotype prediction of supernumerary marker chromosomes
por: Castronovo, Chiara, et al.
Publicado: (2013) -
13q mosaic deletion including RB1 associated to mild phenotype and no cancer outcome – case report and review of the literature
por: Bestetti, Ilaria, et al.
Publicado: (2018)