Ugo A. Cavallari

Milan, Italy

Last Updated: 09/26/2026

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Found 16 publications

Germline genomic profiling of patients with early-onset colorectal cancer.

Germline genomic profiling of patients with early-onset colorectal cancer.

Journal: ESMO gastrointestinal oncology

Published: February 06, 2026

Further Exploring the TRRAP Genotype-Phenotype Correlations: Report of Three New Patients With A Focus on Skeletal Anomalies.

Further Exploring the TRRAP Genotype-Phenotype Correlations: Report of Three New Patients With A Focus on Skeletal Anomalies.

Journal: Clinical genetics

Published: April 01, 2025

First-Tier Versus Last-Tier Trio Whole-Genome Sequencing for the Diagnosis of Pediatric-Onset Rare Diseases.

First-Tier Versus Last-Tier Trio Whole-Genome Sequencing for the Diagnosis of Pediatric-Onset Rare Diseases.

Journal: Clinical genetics

Published: February 21, 2025

Early onset epileptic and developmental encephalopathy and MOGS variants: a new diagnosis in the whole exome sequencing (WES) ERA : Report of a new patient and review of the literature.

Early onset epileptic and developmental encephalopathy and MOGS variants: a new diagnosis in the whole exome sequencing (WES) ERA : Report of a new patient and review of the literature.

Journal: Neurogenetics

Published: February 06, 2024

Novel molecular, structural and clinical findings in an Italian cohort of congenital cataract.

Novel molecular, structural and clinical findings in an Italian cohort of congenital cataract.

Journal: Clinical genetics

Published: January 12, 2024

Cobblestone-like brain malformation with a new bi-allelic ADGRG1 (GPR-56) mutation: Fetal imaging-pathology correlation.

Cobblestone-like brain malformation with a new bi-allelic ADGRG1 (GPR-56) mutation: Fetal imaging-pathology correlation.

Journal: Journal of neuroimaging : official journal of the American Society of Neuroimaging

Published: February 24, 2023

Multimodal treatment with curative intent in a germline BRCA2 mutant metastatic ampullary adenocarcinoma: a case report.

Multimodal treatment with curative intent in a germline BRCA2 mutant metastatic ampullary adenocarcinoma: a case report.

Journal: World journal of surgical oncology

Published: November 25, 2022

Acute Myocarditis Associated With Desmosomal Gene Variants.

Acute Myocarditis Associated With Desmosomal Gene Variants.

Journal: JACC. Heart failure

Published: April 29, 2022

Two novel variants in the lecithin:cholesterol acyltransferase gene resulted in classic LCAT deficiency.

Two novel variants in the lecithin:cholesterol acyltransferase gene resulted in classic LCAT deficiency.

Journal: Atherosclerosis plus

Published: January 14, 2022

Unbalanced X;Autosome Translocations May Lead to Mild Phenotypes and Are Associated with Autoimmune Diseases.

Unbalanced X;Autosome Translocations May Lead to Mild Phenotypes and Are Associated with Autoimmune Diseases.

Journal: Cytogenetic and genome research

Published: December 30, 2019

Combined evaluation of genotype and phenotype of thiopurine S-methyltransferase (TPMT) in the clinical management of patients in chronic therapy with azathioprine.

Combined evaluation of genotype and phenotype of thiopurine S-methyltransferase (TPMT) in the clinical management of patients in chronic therapy with azathioprine.

Journal: Drug metabolism and personalized therapy

Published: November 12, 2018

Identification of a novel NOTCH3 mutation in an Italian family affected by a mild form of CADASIL.

Identification of a novel NOTCH3 mutation in an Italian family affected by a mild form of CADASIL.

Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

Published: October 23, 2018

Showing 1-12 of 16

Last Updated: 09/26/2026