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List of works by Maria Piane

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

scientific article published on 30 July 2016

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

scientific article published on 9 November 2007

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

scientific article

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

scientific article published in February 2008

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

scientific article published on 23 June 2022

Genotype-phenotype relationships in ataxia-telangiectasia and variants.

scientific article

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

scientific article published on 18 May 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)

scientific article published on 08 May 2018

Molecular prenatal diagnosis of ataxia telangiectasia heterozygosity by direct mutational assays

scientific article published on 01 June 1999

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

scientific article published on 13 October 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.

scientific article published on 26 November 2010

Six novel ATM mutations in Italian patients with classical ataxia-telangiectasia.

scientific article published on April 2003

The novel human gene aprataxin is directly involved in DNA single-strand-break repair.

scientific article

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