Francesca Boaretto

Padova, Italy

Last Updated: 09/26/2026

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Found 22 publications

Identification of a PORCN c.1093C>T (p.Arg365Trp) Variant in a 12-Year-Old Girl With Goltz-Gorlin Syndrome.

Identification of a PORCN c.1093C>T (p.Arg365Trp) Variant in a 12-Year-Old Girl With Goltz-Gorlin Syndrome.

Journal: Clinical case reports
Published: July 13, 2025

Optimising diagnosis in children with short stature: an integrated clinical and NGS approach.

Optimising diagnosis in children with short stature: an integrated clinical and NGS approach.

Journal: Endocrine connections
Published: April 28, 2025

Typical NF2 and LTZR1 mutations are retained in an immortalized human schwann cell model of schwannomatosis.

Typical NF2 and LTZR1 mutations are retained in an immortalized human schwann cell model of schwannomatosis.

Journal: Heliyon
Published: June 19, 2024

Pseudodominant inheritance of retinitis pigmentosa in a family with mutations in the Eyes Shut Homolog (EYS) gene.

Pseudodominant inheritance of retinitis pigmentosa in a family with mutations in the Eyes Shut Homolog (EYS) gene.

Journal: Scientific reports
Published: March 31, 2024

TP53 DNA binding domain mutational status and rituximabbased treatment are independent prognostic factors for pediatric Burkitt lymphoma patients stratification.

TP53 DNA binding domain mutational status and rituximabbased treatment are independent prognostic factors for pediatric Burkitt lymphoma patients stratification.

Journal: Haematologica
Published: December 18, 2023

Truncating variants in the penultimate exon of TGFBR1 escaping nonsense-mediated mRNA decay cause Loeys-Dietz syndrome.

Truncating variants in the penultimate exon of TGFBR1 escaping nonsense-mediated mRNA decay cause Loeys-Dietz syndrome.

Journal: European journal of human genetics : EJHG
Published: October 21, 2022

DFNA20/26 and Other ACTG1-Associated Phenotypes: A Case Report and Review of the Literature.

DFNA20/26 and Other ACTG1-Associated Phenotypes: A Case Report and Review of the Literature.

Journal: Audiology research
Published: September 13, 2021

Von Hippel-Lindau disease and multispecialist team.

Von Hippel-Lindau disease and multispecialist team.

Journal: Journal of neurosurgical sciences
Published: April 30, 2020

Correction to: Multiple endocrine neoplasia type 1: analysis of germline MEN1 mutations in the Italian multicenter MEN1 patient database.

Correction to: Multiple endocrine neoplasia type 1: analysis of germline MEN1 mutations in the Italian multicenter MEN1 patient database.

Journal: Endocrine
Published: July 23, 2018

Multiple endocrine neoplasia type 1: analysis of germline MEN1 mutations in the Italian multicenter MEN1 patient database.

Multiple endocrine neoplasia type 1: analysis of germline MEN1 mutations in the Italian multicenter MEN1 patient database.

Journal: Endocrine
Published: November 28, 2017

Multiple endocrine neoplasia syndrome type 1: institution, management, and data analysis of a nationwide multicenter patient database.

Multiple endocrine neoplasia syndrome type 1: institution, management, and data analysis of a nationwide multicenter patient database.

Journal: Endocrine
Published: September 12, 2016

Loss-of-function mutations in the SIGMAR1 gene cause distal hereditary motor neuropathy by impairing ER-mitochondria tethering and Ca2+ signalling.

Loss-of-function mutations in the SIGMAR1 gene cause distal hereditary motor neuropathy by impairing ER-mitochondria tethering and Ca2+ signalling.

Journal: Human molecular genetics
Published: May 27, 2016
Showing 1-12 of 22

Last Updated: 09/26/2026