Paolo Fontana

Benevento, 82100, Italy

Last Updated: 09/26/2026

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Found 24 publications

Non-Classic Cornelia de Lange Syndrome Due to BRD4 Gene Alterations: A Literature Review.

Non-Classic Cornelia de Lange Syndrome Due to BRD4 Gene Alterations: A Literature Review.

Journal: Children (Basel, Switzerland)

Published: September 17, 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

MODY5 and 17q12 Microdeletion Syndrome: Phenotype Variability, Prenatal and Postnatal Counseling.

MODY5 and 17q12 Microdeletion Syndrome: Phenotype Variability, Prenatal and Postnatal Counseling.

Journal: Genes

Published: July 17, 2025

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

A Novel Homozygous GPAA1 Variant in a Patient with a Glycosylphosphatidylinositol Biosynthesis Defect.

A Novel Homozygous GPAA1 Variant in a Patient with a Glycosylphosphatidylinositol Biosynthesis Defect.

Journal: Genes

Published: June 10, 2023

CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology.

CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology.

Journal: European journal of human genetics : EJHG

Published: December 21, 2022

Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature.

Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature.

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

Published: July 12, 2022

Long-term outcomes after lung-sparing surgery for epithelial mesothelioma.

Long-term outcomes after lung-sparing surgery for epithelial mesothelioma.

Journal: Journal of thoracic disease

Published: May 13, 2021

A ZFHX4 mutation associated with a recognizable neuropsychological and facial phenotype.

A ZFHX4 mutation associated with a recognizable neuropsychological and facial phenotype.

Journal: European journal of medical genetics

Published: March 13, 2021

Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature.

Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature.

Journal: European journal of pediatrics

Published: December 28, 2020

Clinical and molecular characterizations of 11 new patients with type 1 Feingold syndrome: Proposal for selecting diagnostic criteria and further genetic testing in patients with severe phenotype.

Clinical and molecular characterizations of 11 new patients with type 1 Feingold syndrome: Proposal for selecting diagnostic criteria and further genetic testing in patients with severe phenotype.

Journal: American journal of medical genetics. Part A

Published: September 27, 2020

De Novo Inverted Duplication Deletion of 4p in a 14-Week-Old Male Fetus Aborted Due to Multiple Anomalies.

De Novo Inverted Duplication Deletion of 4p in a 14-Week-Old Male Fetus Aborted Due to Multiple Anomalies.

Journal: Journal of pediatric genetics

Published: February 14, 2020

Showing 1-12 of 24

Last Updated: 09/26/2026