Pierpaola Tannorella

Istituto Auxologico Italiano

Italy

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Articles (11)

Year:

2024

Year:

2023

Year:

2023

Year:

2023

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2022

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2022

Year:

2022

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2022

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2021

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2020

Year:

2020

Collaborators (7)

Sara Guzzetti

IRCCS Istituto Auxologico Italiano

ITALY

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Andrea Riccio

Professor of Genetics

ITALY

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LUIGI TARANI

ASSOCIATE PROFESSOR

Sapienza University of Rome

ITALY

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Viviana Pensato

Fondazione IRCCS Istituto Neurologico Carlo Besta

ITALY

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Guiomar Perez de Nanclares

SPAIN

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Irene NETCHINE

Head of department and head of research team

Sorbonne Université Faculté de Médecine

FRANCE

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Flavia CERRATO

Università degli Studi della Campania Luigi Vanvitelli

ITALY

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Pierpaola Tannorella

Research Interests

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Articles (11)

Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis

Performance Metrics of the Scoring System for the Diagnosis of the Beckwith–Wiedemann Spectrum (BWSp) and Its Correlation with Cancer Development

Case report: a typical Silver-Russell syndrome patient with hand dystonia: the valuable support of the consensus statement to the wide syndromic spectrum

Prenatal testing for imprinting disorders: A laboratory perspective

First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders.

Clinical and molecular characterization of patients affected by Beckwith-Wiedemann spectrum conceived through assisted reproduction techniques.

Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences.

Germline variants in genes of the subcortical maternal complex and Multilocus Imprinting Disturbance are associated with miscarriage/infertility or Beckwith–Wiedemann progeny

Maternal Uniparental Disomy of Chromosome 20 (UPD(20)mat) as Differential Diagnosis of Silver Russell Syndrome: Identification of Three New Cases

Sorting Rare ALS Genetic Variants by Targeted Re-Sequencing Panel in Italian Patients: OPTN, VCP, and SQSTM1 Variants Account for 3% of Rare Genetic Forms

Polymorphisms of genes required for methionine synthesis and DNA methylation influence mitochondrial DNA methylation.

Collaborators (7)

Sara Guzzetti

Andrea Riccio

LUIGI TARANI

Viviana Pensato

Guiomar Perez de Nanclares

Irene NETCHINE

Flavia CERRATO

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