Roberto Ciccone

Pavia, Italy

Last Updated: 09/26/2026

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Found 17 publications

Clinical Insights Into Nabais Sá-De Vries Syndrome due to a Novel SPOP Mutation: Neuromotor, Cognitive, Adaptive, Behavioral, and Neurovisual Features.

Clinical Insights Into Nabais Sá-De Vries Syndrome due to a Novel SPOP Mutation: Neuromotor, Cognitive, Adaptive, Behavioral, and Neurovisual Features.

Journal: American journal of medical genetics. Part A
Published: August 27, 2024

The Search for Molecular Markers in a Gene-Orphan Case Study of a Pediatric Spinal Cord Pilocytic Astrocytoma.

The Search for Molecular Markers in a Gene-Orphan Case Study of a Pediatric Spinal Cord Pilocytic Astrocytoma.

Journal: Cancer genomics & proteomics
Published: November 22, 2019

Missense variants in the Arg206 residue of HNRNPH2: Further evidence of causality and expansion of the phenotype.

Missense variants in the Arg206 residue of HNRNPH2: Further evidence of causality and expansion of the phenotype.

Journal: American journal of medical genetics. Part A
Published: October 19, 2019

Mild encephalitis/encephalopathy with reversible splenial lesion (MERS) in twin sisters with two CD36 frameshift mutations.

Mild encephalitis/encephalopathy with reversible splenial lesion (MERS) in twin sisters with two CD36 frameshift mutations.

Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Published: September 20, 2019

Inherited human IRAK-1 deficiency selectively impairs TLR signaling in fibroblasts.

Inherited human IRAK-1 deficiency selectively impairs TLR signaling in fibroblasts.

Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: January 11, 2017

Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association.

Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association.

Journal: Human mutation
Published: December 19, 2014

A novel mutation in COL4A1 gene: a possible cause of early postnatal cerebrovascular events.

A novel mutation in COL4A1 gene: a possible cause of early postnatal cerebrovascular events.

Journal: American journal of medical genetics. Part A
Published: May 22, 2014

Next generation sequencing for systematic assessment of genetics of small-vessel disease and lacunar stroke.

Next generation sequencing for systematic assessment of genetics of small-vessel disease and lacunar stroke.

Journal: Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association
Published: April 18, 2014

PRKACB and Carney complex.

PRKACB and Carney complex.

Journal: The New England journal of medicine
Published: February 28, 2014

MECP2 duplication phenotype in symptomatic females: report of three further cases.

MECP2 duplication phenotype in symptomatic females: report of three further cases.

Journal: Molecular cytogenetics
Published: October 10, 2013

Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion.

Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion.

Journal: American journal of medical genetics. Part A
Published: July 15, 2013

Idiopathic central precocious puberty associated with 11 mb de novo distal deletion of the chromosome 9 short arm.

Idiopathic central precocious puberty associated with 11 mb de novo distal deletion of the chromosome 9 short arm.

Journal: Case reports in genetics
Published: June 06, 2013
Showing 1-12 of 17

Last Updated: 09/26/2026