Citations - Riva Priscilla

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Published on: 2020-06-12
Source: Riva Priscilla
By: Herbert Tejada Meza
No abstract... Read more
Published on: 2020-06-12
Source: Riva Priscilla
By: Herbert Tejada Meza
No abstract... Read more
Published on: 2020-06-12
Source: Riva Priscilla
By: Herbert Tejada Meza
No abstract... Read more
Published on: 2020-06-12
Source: Riva Priscilla
By: Herbert Tejada Meza
No abstract... Read more
Published on: 2020-06-12
Source: Riva Priscilla
By: Herbert Tejada Meza
Noonan syndrome (NS) is an autosomal-dominant disorder with variable expressivity and locus heterogeneity. Despite several RAS pathway genes were implicated in NS, 20-30% of patients remain without molecular diagnosis, suggesting the involvement of further genes or multiple mechanisms. Eight patients out of 60, negative for conventional NS mutation analysis, with... Read more
Published on: 2020-06-10
Source: Riva Priscilla
By: Luca Ferrari
Satellited non-acrocentric autosomal chromosomes (ps-qs-chromosomes) are the result of an interchange between sub- or telomeric regions of autosomes and the p arm of acrocentrics. The sequence homology at the rearrangement breakpoints appears to be, among others, the most frequent mechanism generating these variant chromosomes. The unbalanced carriers of this type... Read more
Published on: 2020-05-17
Source: Riva Priscilla
By: Serena Redaelli
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