Matteo Monica-Della

Naples, Italy

Last Updated: 09/26/2026

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Found 25 publications

Kidney stones and metabolic bone diseases not linked to parathyroid disfunction: a proposal for an integrated management.

Kidney stones and metabolic bone diseases not linked to parathyroid disfunction: a proposal for an integrated management.

Journal: Archivio italiano di urologia, andrologia : organo ufficiale [di] Societa italiana di ecografia urologica e nefrologica

Published: April 07, 2025

Integrated Management of an Adult Patient with Mucopolysaccharidosis type IVA: A Case Report with a Six-Year Follow-up.

Integrated Management of an Adult Patient with Mucopolysaccharidosis type IVA: A Case Report with a Six-Year Follow-up.

Journal: European journal of case reports in internal medicine

Published: September 18, 2023

A Novel Variant in RAD21 in Cornelia De Lange Syndrome Type 4: Case Report and Bioinformatic Analysis.

A Novel Variant in RAD21 in Cornelia De Lange Syndrome Type 4: Case Report and Bioinformatic Analysis.

Journal: Genes

Published: November 28, 2022

Retinoic acid-induced 1 gene haploinsufficiency alters lipid metabolism and causes autophagy defects in Smith-Magenis syndrome.

Retinoic acid-induced 1 gene haploinsufficiency alters lipid metabolism and causes autophagy defects in Smith-Magenis syndrome.

Journal: Cell death & disease

Published: September 15, 2022

De Novo Mutation in KMT2C Manifesting as Kleefstra Syndrome 2: Case Report and Literature Review.

De Novo Mutation in KMT2C Manifesting as Kleefstra Syndrome 2: Case Report and Literature Review.

Journal: Pediatric reports

Published: December 30, 2021

Germline rare variants of lectin pathway genes predispose to asymptomatic SARS-CoV-2 infection in elderly individuals.

Germline rare variants of lectin pathway genes predispose to asymptomatic SARS-CoV-2 infection in elderly individuals.

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

Published: October 27, 2021

Differential Diagnosis between Marfan Syndrome and Loeys-Dietz Syndrome Type 4: A Novel Chromosomal Deletion Covering TGFB2.

Differential Diagnosis between Marfan Syndrome and Loeys-Dietz Syndrome Type 4: A Novel Chromosomal Deletion Covering TGFB2.

Journal: Genes

Published: August 09, 2021

SARS-CoV-2 in Urine May Predict a Severe Evolution of COVID-19.

SARS-CoV-2 in Urine May Predict a Severe Evolution of COVID-19.

Journal: Journal of clinical medicine

Published: July 16, 2021

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

The TNFRSF13C H159Y Variant Is Associated with Severe COVID-19: A Retrospective Study of 500 Patients from Southern Italy.

The TNFRSF13C H159Y Variant Is Associated with Severe COVID-19: A Retrospective Study of 500 Patients from Southern Italy.

Journal: Genes

Published: May 17, 2021

Regulatory Noncoding and Predicted Pathogenic Coding Variants of CCR5 Predispose to Severe COVID-19.

Regulatory Noncoding and Predicted Pathogenic Coding Variants of CCR5 Predispose to Severe COVID-19.

Journal: International journal of molecular sciences

Published: April 23, 2021

DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies.

DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies.

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

Published: April 06, 2021

Showing 1-12 of 25

Last Updated: 09/26/2026