Michele Valiante

Rome, Italy

Last Updated: 09/26/2026

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Found 19 publications

Subtype distribution, clinical presentation, and molecular spectrum of neurofibromatosis type 1-associated breast cancer.

Subtype distribution, clinical presentation, and molecular spectrum of neurofibromatosis type 1-associated breast cancer.

Journal: Breast (Edinburgh, Scotland)

Published: September 15, 2025

Concomitant dominant optic atrophy and juvenile glaucoma in two siblings with a novel OPA1 splicing variant.

Concomitant dominant optic atrophy and juvenile glaucoma in two siblings with a novel OPA1 splicing variant.

Journal: Documenta ophthalmologica. Advances in ophthalmology

Published: September 05, 2025

Germline NUP98 Variants in Two Siblings with a Rothmund-Thomson-Like Spectrum: Protein Functional Changes Predicted by Molecular Modeling.

Germline NUP98 Variants in Two Siblings with a Rothmund-Thomson-Like Spectrum: Protein Functional Changes Predicted by Molecular Modeling.

Journal: International journal of molecular sciences

Published: December 22, 2022

A Novel Hypothesis on Choroideremia-Manifesting Female Carriers: Could CHM In-Frame Variants Exert a Dominant Negative Effect? A Case Report.

A Novel Hypothesis on Choroideremia-Manifesting Female Carriers: Could CHM In-Frame Variants Exert a Dominant Negative Effect? A Case Report.

Journal: Genes

Published: June 09, 2022

Two unrelated cases with biallelic CHEK2 variants:a novel condition with constitutional chromosomal instability?

Two unrelated cases with biallelic CHEK2 variants:a novel condition with constitutional chromosomal instability?

Journal: European journal of human genetics : EJHG

Published: May 03, 2022

A Single Center Retrospective Review of Patients from Central Italy Tested for Melanoma Predisposition Genes.

A Single Center Retrospective Review of Patients from Central Italy Tested for Melanoma Predisposition Genes.

Journal: International journal of molecular sciences

Published: November 06, 2020

A novel CDKN2A in-frame deletion associated with pancreatic cancer-melanoma syndrome.

A novel CDKN2A in-frame deletion associated with pancreatic cancer-melanoma syndrome.

Journal: Dermatology online journal

Published: September 15, 2020

Answer to Letter to the Editor regarding the article "Striking phenotypic overlap between Nicolaides-Baraitser and Coffin-Siris syndromes in monozygotic twins with ARID1B intragenic deletion".

Answer to Letter to the Editor regarding the article "Striking phenotypic overlap between Nicolaides-Baraitser and Coffin-Siris syndromes in monozygotic twins with ARID1B intragenic deletion".

Journal: European journal of medical genetics

Published: June 24, 2020

Clinical presentation and molecular characterization of a novel patient with variant POC1A-related syndrome.

Clinical presentation and molecular characterization of a novel patient with variant POC1A-related syndrome.

Journal: Clinical genetics

Published: April 18, 2020

Striking phenotypic overlap between Nicolaides-Baraitser and Coffin-Siris syndromes in monozygotic twins with ARID1B intragenic deletion.

Striking phenotypic overlap between Nicolaides-Baraitser and Coffin-Siris syndromes in monozygotic twins with ARID1B intragenic deletion.

Journal: European journal of medical genetics

Published: March 15, 2019

Autism spectrum disorder in a patient with a genomic rearrangement that only involves the EPHA5 gene.

Autism spectrum disorder in a patient with a genomic rearrangement that only involves the EPHA5 gene.

Journal: Psychiatric genetics

Published: February 07, 2019

Incidental finding of an Xq microdeletion in a girl with trichorhinophalangeal syndrome type I harboring a novel TRPS1 nonsense mutation.

Incidental finding of an Xq microdeletion in a girl with trichorhinophalangeal syndrome type I harboring a novel TRPS1 nonsense mutation.

Journal: Minerva pediatrica

Published: April 14, 2018

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Last Updated: 09/26/2026