Simonetta Rosato

Reggio Nell'emilia, Italy

Last Updated: 09/26/2026

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Found 32 publications

Clinical, dermoscopic and confocal microscopy features of multiple primary melanomas according to pathogenic germline variant status: a retrospective, hospital-based study.

Clinical, dermoscopic and confocal microscopy features of multiple primary melanomas according to pathogenic germline variant status: a retrospective, hospital-based study.

Journal: Clinical and experimental dermatology

Published: May 20, 2025

Prolonged Follow-Up in a 30-Year-Old Male With a Novel Pathogenic Variant in MSL3 : A Case Report and a Brief Review of the Literature.

Prolonged Follow-Up in a 30-Year-Old Male With a Novel Pathogenic Variant in MSL3 : A Case Report and a Brief Review of the Literature.

Journal: American journal of medical genetics. Part A

Published: February 17, 2025

Axonal motor polyneuropathy in a 13 years old Girl with a de Novo variant in ADNP.

Axonal motor polyneuropathy in a 13 years old Girl with a de Novo variant in ADNP.

Journal: Neurogenetics

Published: October 31, 2024

Clinical exome next‑generation sequencing panel for hereditary pheochromocytoma and paraganglioma diagnosis.

Clinical exome next‑generation sequencing panel for hereditary pheochromocytoma and paraganglioma diagnosis.

Journal: Experimental and therapeutic medicine

Published: April 26, 2024

Split Hand-Foot and Deafness in a Patient with 7q21.13-q21.3 Deletion Not Including the DLX5/6 Genes.

Split Hand-Foot and Deafness in a Patient with 7q21.13-q21.3 Deletion Not Including the DLX5/6 Genes.

Journal: Genes

Published: June 30, 2023

Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological Features.

Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological Features.

Journal: Genes

Published: December 21, 2021

Clinical and Genetic Findings in a Series of Eight Families with Arthrogryposis.

Clinical and Genetic Findings in a Series of Eight Families with Arthrogryposis.

Journal: Genes

Published: November 29, 2021

Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the CEP85L Gene: A Case Report and Refining of the Phenotypic Spectrum.

Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the CEP85L Gene: A Case Report and Refining of the Phenotypic Spectrum.

Journal: Genes

Published: May 24, 2021

Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25-related: polymicrogyria as a distinctive neuroradiological finding.

Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25-related: polymicrogyria as a distinctive neuroradiological finding.

Journal: Neurogenetics

Published: June 15, 2020

Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomalies.

Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomalies.

Journal: American journal of medical genetics. Part A

Published: January 29, 2020

Alazami syndrome: the first case of papillary thyroid carcinoma.

Alazami syndrome: the first case of papillary thyroid carcinoma.

Journal: Journal of human genetics

Published: July 06, 2019

A Novel CCND2 Mutation in a Previously Reported Case of Megalencephaly and Perisylvian Polymicrogyria with Postaxial Polydactyly and Hydrocephalus.

A Novel CCND2 Mutation in a Previously Reported Case of Megalencephaly and Perisylvian Polymicrogyria with Postaxial Polydactyly and Hydrocephalus.

Journal: Neuropediatrics

Published: April 12, 2018

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Last Updated: 09/26/2026