Paola Riva

Milan, 20122, Italy

Last Updated: 09/26/2026

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Found 30 publications

Long-read genome sequencing resolves a de novo complex 18q12.1q21.2 triplication causing partial tetrasomy and reveals its underlying mechanism.

Long-read genome sequencing resolves a de novo complex 18q12.1q21.2 triplication causing partial tetrasomy and reveals its underlying mechanism.

Journal: Human genetics
Published: October 30, 2025

Generation of iPSC lines (UMILi032-A, UMILi033-A, UMILi034-A, UMILi035-A, UMILi036-A) from five Congenital Central Hypoventilation Syndrome patients carrying different poly-alanine expansion mutations in the PHOX2B gene.

Generation of iPSC lines (UMILi032-A, UMILi033-A, UMILi034-A, UMILi035-A, UMILi036-A) from five Congenital Central Hypoventilation Syndrome patients carrying different poly-alanine expansion mutations in the PHOX2B gene.

Journal: Stem cell research
Published: October 24, 2025

Regulation of PHOX2B gene expression by the long non-coding natural antisense RNA PHOX2B-AS1.

Regulation of PHOX2B gene expression by the long non-coding natural antisense RNA PHOX2B-AS1.

Journal: The FEBS journal
Published: May 28, 2025

Genetic/epigenetic effects in NF1 microdeletion syndrome: beyond the haploinsufficiency, looking at the contribution of not deleted genes.

Genetic/epigenetic effects in NF1 microdeletion syndrome: beyond the haploinsufficiency, looking at the contribution of not deleted genes.

Journal: Human genetics
Published: March 15, 2024

Olfactory receptor genes and chromosome 11 structural aberrations: Players or spectators?

Olfactory receptor genes and chromosome 11 structural aberrations: Players or spectators?

Journal: HGG advances
Published: September 15, 2023

Expression analysis of NF1-mutated alleles in a rare compound heterozygous spinal NF1 patient by digital PCR.

Expression analysis of NF1-mutated alleles in a rare compound heterozygous spinal NF1 patient by digital PCR.

Journal: Annals of human genetics
Published: May 08, 2023

New insights into the molecular basis of spinal neurofibromatosis type 1.

New insights into the molecular basis of spinal neurofibromatosis type 1.

Journal: European journal of human genetics : EJHG
Published: February 13, 2023

Deregulated expression of polycomb repressive complex 2 target genes in a NF1 patient with microdeletion generating the RNF135-SUZ12 chimeric gene.

Deregulated expression of polycomb repressive complex 2 target genes in a NF1 patient with microdeletion generating the RNF135-SUZ12 chimeric gene.

Journal: Neurogenetics
Published: February 02, 2023

A Translational Approach to Spinal Neurofibromatosis: Clinical and Molecular Insights from a Wide Italian Cohort.

A Translational Approach to Spinal Neurofibromatosis: Clinical and Molecular Insights from a Wide Italian Cohort.

Journal: Cancers
Published: November 04, 2022

Changes of RAS Pathway Phosphorylation in Lymphoblastoid Cell Lines from Noonan Syndrome Patients Carrying Hypomorphic Variants in Two NS Genes.

Changes of RAS Pathway Phosphorylation in Lymphoblastoid Cell Lines from Noonan Syndrome Patients Carrying Hypomorphic Variants in Two NS Genes.

Journal: International journal of molecular sciences
Published: November 02, 2022

Characterization of 22q12 Microdeletions Causing Position Effect in Rare NF2 Patients with Complex Phenotypes.

Characterization of 22q12 Microdeletions Causing Position Effect in Rare NF2 Patients with Complex Phenotypes.

Journal: International journal of molecular sciences
Published: June 23, 2022

Human Chromosome 18 and Acrocentrics: A Dangerous Liaison.

Human Chromosome 18 and Acrocentrics: A Dangerous Liaison.

Journal: International journal of molecular sciences
Published: March 02, 2021
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Last Updated: 09/26/2026