Pierangela Castorina

Milan, Italy

Last Updated: 09/26/2026

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Found 20 publications

In-depth genetic and molecular characterization of diaphanous related formin 2 (DIAPH2) and its role in the inner ear.

In-depth genetic and molecular characterization of diaphanous related formin 2 (DIAPH2) and its role in the inner ear.

Journal: PloS one
Published: August 08, 2022

Role of Cytoskeletal Diaphanous-Related Formins in Hearing Loss.

Role of Cytoskeletal Diaphanous-Related Formins in Hearing Loss.

Journal: Cells
Published: March 16, 2022

Heterozygous COL4A3/COL4A4 mutations: the hidden part of the iceberg?

Heterozygous COL4A3/COL4A4 mutations: the hidden part of the iceberg?

Journal: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association
Published: March 06, 2021

SLC22A4 Gene in Hereditary Non-syndromic Hearing Loss: Recurrence and Incomplete Penetrance of the p.C113Y Mutation in Northwest Africa.

SLC22A4 Gene in Hereditary Non-syndromic Hearing Loss: Recurrence and Incomplete Penetrance of the p.C113Y Mutation in Northwest Africa.

Journal: Frontiers in genetics
Published: September 15, 2020

X-Linked Alport Syndrome in Women: Genotype and Clinical Course in 24 Cases.

X-Linked Alport Syndrome in Women: Genotype and Clinical Course in 24 Cases.

Journal: Frontiers in medicine
Published: July 06, 2020

Audiovestibular Phenotypes and Advanced Magnetic Resonance Imaging Features of Cochlin Gene Mutation Carriers.

Audiovestibular Phenotypes and Advanced Magnetic Resonance Imaging Features of Cochlin Gene Mutation Carriers.

Journal: Audiology & neuro-otology
Published: October 15, 2018

Next-generation sequencing identified SPATC1L as a possible candidate gene for both early-onset and age-related hearing loss.

Next-generation sequencing identified SPATC1L as a possible candidate gene for both early-onset and age-related hearing loss.

Journal: European journal of human genetics : EJHG
Published: November 22, 2017

Alport syndrome cold cases: Missing mutations identified by exome sequencing and functional analysis.

Alport syndrome cold cases: Missing mutations identified by exome sequencing and functional analysis.

Journal: PloS one
Published: March 01, 2017

Early Volume Expansion and Outcomes of Hemolytic Uremic Syndrome.

Early Volume Expansion and Outcomes of Hemolytic Uremic Syndrome.

Journal: Pediatrics
Published: September 28, 2015

First independent replication of the involvement of LARS2 in Perrault syndrome by whole-exome sequencing of an Italian family.

First independent replication of the involvement of LARS2 in Perrault syndrome by whole-exome sequencing of an Italian family.

Journal: Journal of human genetics
Published: September 04, 2015

Usher syndrome: an effective sequencing approach to establish a genetic and clinical diagnosis.

Usher syndrome: an effective sequencing approach to establish a genetic and clinical diagnosis.

Journal: Hearing research
Published: August 30, 2014

Hemoconcentration: a major risk factor for neurological involvement in hemolytic uremic syndrome.

Hemoconcentration: a major risk factor for neurological involvement in hemolytic uremic syndrome.

Journal: Pediatric nephrology (Berlin, Germany)
Published: April 28, 2014
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Last Updated: 09/26/2026