Paolo Fontana

7PUBLICATIONS
12CO-AUTHORS
Developmental genetics (incl. sex determination)Epigenetics (incl. genome methylation and epigenomics)Gene mappingFoetal development and medicinePaediatrics not elsewhere classified
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Publications (7)

|Nov 27, 2025
Non-Classic Cornelia de Lange Syndrome Due to BRD4 Gene Alterations: A Literature Review.

Fortunato Lonardo, Mariateresa Falco, Claudia Costabile

|Sep 27, 2025
MODY5 and 17q12 Microdeletion Syndrome: Phenotype Variability, Prenatal and Postnatal Counseling.

Paolo Fontana, Claudia Costabile, Mariateresa Falco

|Jul 29, 2023
A Novel Homozygous GPAA1 Variant in a Patient with a Glycosylphosphatidylinositol Biosynthesis Defect.

Paolo Fontana, Alberto Budillon, Domenico Simeone

|Sep 10, 2021
De Novo Inverted Duplication Deletion of 4p in a 14-Week-Old Male Fetus Aborted Due to Multiple Anomalies.

Paolo Fontana, Laura Bernardini, Cinzia Lombardi

|May 16, 2019
Delineation of MidXq28-duplication syndrome distal to MECP2 and proximal to RAB39B genes.

Lorenzo Sinibaldi, Valentina Parisi, Silvia Lanciotti

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