Luigi Memo

Luigi Memo

Trieste, Italy

Last Updated: 09/26/2026

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Found 39 publications

KBG syndrome: report and follow-up on three unrelated patients observed at different ages.

KBG syndrome: report and follow-up on three unrelated patients observed at different ages.

Journal: Italian journal of pediatrics

Published: May 16, 2024

Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis.

Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis.

Journal: European journal of human genetics : EJHG

Published: January 26, 2024

Long-read sequencing reveals chromothripsis in a molecularly unsolved case of Cornelia de Lange syndrome.

Long-read sequencing reveals chromothripsis in a molecularly unsolved case of Cornelia de Lange syndrome.

Journal: Frontiers in genetics

Published: December 19, 2023

Beckwith-Wiedemann syndrome and twinning: case report and brief review of literature.

Beckwith-Wiedemann syndrome and twinning: case report and brief review of literature.

Journal: Italian journal of pediatrics

Published: December 09, 2022

Celiac disease prevalence and predisposing-HLA in a cohort of 93 Williams-Beuren syndrome patients.

Celiac disease prevalence and predisposing-HLA in a cohort of 93 Williams-Beuren syndrome patients.

Journal: American journal of medical genetics. Part A

Published: July 25, 2022

Neonatal presentation of Loeys-Dietz syndrome: two case reports and review of the literature.

Neonatal presentation of Loeys-Dietz syndrome: two case reports and review of the literature.

Journal: Italian journal of pediatrics

Published: March 31, 2022

Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis.

Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis.

Journal: Italian journal of pediatrics

Published: March 24, 2022

Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants.

Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants.

Journal: Journal of medical genetics

Published: July 11, 2021

Jacobsen syndrome and neonatal bleeding: report on two unrelated patients.

Jacobsen syndrome and neonatal bleeding: report on two unrelated patients.

Journal: Italian journal of pediatrics

Published: March 19, 2021

Recommendations for neonatologists and pediatricians working in first level birthing centers on the first communication of genetic disease and malformation syndrome diagnosis: consensus issued by 6 Italian scientific societies and 4 parents' associations.

Recommendations for neonatologists and pediatricians working in first level birthing centers on the first communication of genetic disease and malformation syndrome diagnosis: consensus issued by 6 Italian scientific societies and 4 parents' associations.

Journal: Italian journal of pediatrics

Published: January 26, 2021

Neurophysiological monitoring in neonatal abstinence syndrome from cocaine.

Neurophysiological monitoring in neonatal abstinence syndrome from cocaine.

Journal: Annali dell'Istituto superiore di sanita

Published: September 22, 2020

Children with special health care needs attending emergency department in Italy: analysis of 3479 cases.

Children with special health care needs attending emergency department in Italy: analysis of 3479 cases.

Journal: Italian journal of pediatrics

Published: July 29, 2020

Showing 1-12 of 39

Last Updated: 09/26/2026