Cargando…
Telomere shortening and telomere position effect in mild ring 17 syndrome
BACKGROUND: Ring chromosome 17 syndrome is a rare disease that arises from the breakage and reunion of the short and long arms of chromosome 17. Usually this abnormality results in deletion of genetic material, which explains the clinical features of the syndrome. Moreover, similar phenotypic featur...
Autores principales: | Surace, Cecilia, Berardinelli, Francesco, Masotti, Andrea, Roberti, Maria Cristina, Da Sacco, Letizia, D’Elia, Gemma, Sirleto, Pietro, Digilio, Maria Cristina, Cusmai, Raffaella, Grotta, Simona, Petrocchi, Stefano, Hachem, May El, Pisaneschi, Elisa, Ciocca, Laura, Russo, Serena, Lepri, Francesca Romana, Sgura, Antonella, Angioni, Adriano |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2014
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3892072/ https://www.ncbi.nlm.nih.gov/pubmed/24393457 http://dx.doi.org/10.1186/1756-8935-7-1 |
Ejemplares similares
-
CHARGE syndrome due to deletion of region upstream of CHD7 gene START codon
por: Pisaneschi, Elisa, et al.
Publicado: (2015) -
Complex chromosome rearrangements related 15q14 microdeletion plays a relevant role in phenotype expression and delineates a novel recurrent syndrome
por: Roberti, Maria Cristina, et al.
Publicado: (2011) -
Array-CGH characterization and genotype-phenotype analysis in a patient with a ring chromosome 6
por: Ciocca, Laura, et al.
Publicado: (2013) -
Telomere Length Maintenance in Cancer: At the Crossroad between Telomerase and Alternative Lengthening of Telomeres (ALT)
por: De Vitis, Marco, et al.
Publicado: (2018) -
Diagnosis of Noonan syndrome and related disorders using target next generation sequencing
por: Lepri, Francesca Romana, et al.
Publicado: (2014)