Pierpaola Tannorella

Milan, Italy

Last Updated: 09/26/2026

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Found 27 publications

Prenatal Genetic Testing for Beckwith-Wiedemann Syndrome: Considerations, Challenges and Observations (A Real-World Study).

Prenatal Genetic Testing for Beckwith-Wiedemann Syndrome: Considerations, Challenges and Observations (A Real-World Study).

Journal: Prenatal diagnosis

Published: November 22, 2025

PEG10 loss of function causes Silver-Russell syndrome: a familial case with paternal deletion.

PEG10 loss of function causes Silver-Russell syndrome: a familial case with paternal deletion.

Journal: Scientific reports

Published: September 09, 2025

Beckwith-Wiedemann spectrum (BWSp): an update on diagnosis, management, and follow-up from the scientific committee of the Italian BWSp association.

Beckwith-Wiedemann spectrum (BWSp): an update on diagnosis, management, and follow-up from the scientific committee of the Italian BWSp association.

Journal: Italian journal of pediatrics

Published: May 07, 2025

Exploring NEK1 genetic variability in Italian amyotrophic lateral sclerosis patients.

Exploring NEK1 genetic variability in Italian amyotrophic lateral sclerosis patients.

Journal: Journal of neurology

Published: February 13, 2025

Distinguishing Genetic Alterations Versus (Epi)Mutations in Silver-Russell Syndrome and Focus on the IGF1R Gene.

Distinguishing Genetic Alterations Versus (Epi)Mutations in Silver-Russell Syndrome and Focus on the IGF1R Gene.

Journal: The Journal of clinical endocrinology and metabolism

Published: June 26, 2024

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

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

Journal: Clinical epigenetics

Published: April 25, 2024

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

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

Journal: Frontiers in genetics

Published: April 03, 2023

Prenatal testing for imprinting disorders: A laboratory perspective.

Prenatal testing for imprinting disorders: A laboratory perspective.

Journal: Prenatal diagnosis

Published: February 06, 2023

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

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

Journal: Cancers

Published: November 22, 2022

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

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

Journal: Clinical genetics

Published: June 21, 2022

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

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

Journal: Clinical epigenetics

Published: May 20, 2022

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

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

Journal: Clinical epigenetics

Published: January 11, 2022

Showing 1-12 of 27

Last Updated: 09/26/2026