Valentina Trevisan

Rome, 00168, Italy

Last Updated: 09/26/2026

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Found 26 publications

Muscle ultrasonography in costello syndrome: unveiling new clinical insights of a complex muscular phenotype.

Muscle ultrasonography in costello syndrome: unveiling new clinical insights of a complex muscular phenotype.

Journal: Orphanet journal of rare diseases

Published: November 21, 2025

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

9q34.11 Microduplications Encompassing SET Gene Are Associated With Neurodevelopmental Disorder and Recurrent Dysmorphisms.

9q34.11 Microduplications Encompassing SET Gene Are Associated With Neurodevelopmental Disorder and Recurrent Dysmorphisms.

Journal: American journal of medical genetics. Part A

Published: July 26, 2025

Cardiofaciocutaneous syndrome and immunodeficiency: data from an international multicenter cohort.

Cardiofaciocutaneous syndrome and immunodeficiency: data from an international multicenter cohort.

Journal: Frontiers in immunology

Published: March 24, 2025

Clinical-Genetic Approach to Conditions with Macrocephaly and ASD/Behaviour Abnormalities: Variants in PTEN and PPP2R5D Are the Most Recurrent Gene Mutations in a Patient-Oriented Diagnostic Strategy.

Clinical-Genetic Approach to Conditions with Macrocephaly and ASD/Behaviour Abnormalities: Variants in PTEN and PPP2R5D Are the Most Recurrent Gene Mutations in a Patient-Oriented Diagnostic Strategy.

Journal: Genes

Published: March 19, 2025

Challenges and Pitfalls in Diagnosing Twins With Discordant BWS Phenotype.

Challenges and Pitfalls in Diagnosing Twins With Discordant BWS Phenotype.

Journal: Clinical genetics

Published: January 20, 2025

Costello Syndrome and Ophthalmologic Issues: Unveiling the Unseen.

Costello Syndrome and Ophthalmologic Issues: Unveiling the Unseen.

Journal: American journal of medical genetics. Part A

Published: December 03, 2024

Relationship Between Loss of Y Chromosome and Urologic Cancers: New Future Perspectives.

Relationship Between Loss of Y Chromosome and Urologic Cancers: New Future Perspectives.

Journal: Cancers

Published: September 25, 2024

Feeding and Nutritional Key Features of Crisponi/Cold-Induced Sweating Syndrome.

Feeding and Nutritional Key Features of Crisponi/Cold-Induced Sweating Syndrome.

Journal: Genes

Published: July 01, 2024

Parenting Stress Index in Caregivers of Individuals With Noonan Syndrome.

Parenting Stress Index in Caregivers of Individuals With Noonan Syndrome.

Journal: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics

Published: May 14, 2024

Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules.

Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: April 03, 2024

Clarifying main nutritional aspects and resting energy expenditure in children with Smith-Magenis syndrome.

Clarifying main nutritional aspects and resting energy expenditure in children with Smith-Magenis syndrome.

Journal: European journal of pediatrics

Published: March 04, 2024

Showing 1-12 of 26

Last Updated: 09/26/2026