Lista de obras - Maria Piane - Dominio Público Uruguay

A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort.

artículo científico publicado en 2016

Control of cell respiration by nitric oxide in Ataxia Telangiectasia lymphoblastoid cells.

artículo científico publicado en 2007

Cutaneous venous malformations related to KRIT1 mutation: case report and literature review.

artículo científico publicado en 2013

Different clinical and immunological presentation of ataxia-telangiectasia within the same family.

artículo científico publicado en 2008

Genomic Breakpoints’ Characterization of a Large CHEK2 Duplication in an Italian Family with Hereditary Breast Cancer

artículo científico publicado en 2022

Genotype-phenotype relationships in ataxia-telangiectasia and variants.

artículo científico publicado en 1998

Homozygosity for c 6325T>G transition in the ATM gene causes an atypical, late-onset variant form of ataxia-telangiectasia.

artículo científico publicado en 2010

Impact of Cystic Fibrosis Transmembrane Regulator (CFTR) gene mutations on male infertility

scientific article published on 30 September 2014

Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome previously diagnosed as Seckel syndrome: report of a novel mutation of the PCNT gene

scientific article published on 01 November 2009

Modulation of hypersensitivity to oxidative DNA damage in ATM defective cells induced by potassium bromate by inhibition of the Poly (ADP-ribose) polymerase (PARP)

artículo científico publicado en 2018

Molecular prenatal diagnosis of ataxia telangiectasia heterozygosity by direct mutational assays

artículo científico publicado en 1999

Novel compound heterozygous mutations in a child with Ataxia-Telangiectasia showing unrelated cerebellar disorders

artículo científico publicado en 2016

Phenotype expression in a case of adult cystic fibrosis caused by an extremely rare compound heterozygous genotype (2183AA>G/2789+5G>A)

scientific article published on 01 July 2009

Role of senataxin in DNA damage and telomeric stability.