Valeria Cinquina

Brescia, Italy

Last Updated: 09/26/2026

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Found 28 publications

Hereditary connective tissue disorders in unselected patients with spontaneous cervical artery dissection: a targeted next generation sequencing approach and systematic review.

Hereditary connective tissue disorders in unselected patients with spontaneous cervical artery dissection: a targeted next generation sequencing approach and systematic review.

Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

Published: May 29, 2026

Sodium-Glucose Cotransporter-2-inhibitors in Adult Patients With Alport Syndrome.

Sodium-Glucose Cotransporter-2-inhibitors in Adult Patients With Alport Syndrome.

Journal: Kidney international reports

Published: December 11, 2025

Proximity extension assay-based serum proteomic profiling identifies shared protein signatures in hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders.

Proximity extension assay-based serum proteomic profiling identifies shared protein signatures in hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders.

Journal: Clinical proteomics

Published: September 26, 2025

Integrative Multi-Omics Approach in Vascular Ehlers-Danlos Syndrome: Further Insights into the Disease Mechanisms by Proteomic Analysis of Patient Dermal Fibroblasts.

Integrative Multi-Omics Approach in Vascular Ehlers-Danlos Syndrome: Further Insights into the Disease Mechanisms by Proteomic Analysis of Patient Dermal Fibroblasts.

Journal: Biomedicines

Published: November 01, 2024

Bridging the Diagnostic Gap for Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders: Evidence of a Common Extracellular Matrix Fragmentation Pattern in Patient Plasma as a Potential Biomarker.

Bridging the Diagnostic Gap for Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders: Evidence of a Common Extracellular Matrix Fragmentation Pattern in Patient Plasma as a Potential Biomarker.

Journal: American journal of medical genetics. Part A

Published: May 17, 2024

Deciphering disease signatures and molecular targets in vascular Ehlers-Danlos syndrome through transcriptome and miRNome sequencing of dermal fibroblasts.

Deciphering disease signatures and molecular targets in vascular Ehlers-Danlos syndrome through transcriptome and miRNome sequencing of dermal fibroblasts.

Journal: Biochimica et biophysica acta. Molecular basis of disease

Published: July 28, 2023

Looking back and beyond the 2017 diagnostic criteria for hypermobile Ehlers-Danlos syndrome: A retrospective cross-sectional study from an Italian reference center.

Looking back and beyond the 2017 diagnostic criteria for hypermobile Ehlers-Danlos syndrome: A retrospective cross-sectional study from an Italian reference center.

Journal: American journal of medical genetics. Part A

Published: July 07, 2023

RNA-Seq of Dermal Fibroblasts from Patients with Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders Supports Their Categorization as a Single Entity with Involvement of Extracellular Matrix Degrading and Proinflammatory Pathomechanisms.

RNA-Seq of Dermal Fibroblasts from Patients with Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders Supports Their Categorization as a Single Entity with Involvement of Extracellular Matrix Degrading and Proinflammatory Pathomechanisms.

Journal: Cells

Published: November 10, 2022

Truncating variants in the penultimate exon of TGFBR1 escaping nonsense-mediated mRNA decay cause Loeys-Dietz syndrome.

Truncating variants in the penultimate exon of TGFBR1 escaping nonsense-mediated mRNA decay cause Loeys-Dietz syndrome.

Journal: European journal of human genetics : EJHG

Published: October 21, 2022

Phacomatosis pigmentovascularis spilorosea mit Mutation im PTPN11 Gen: neuer Fall mit erheblichen neurologischen Beeinträchtigungen.

Phacomatosis pigmentovascularis spilorosea mit Mutation im PTPN11 Gen: neuer Fall mit erheblichen neurologischen Beeinträchtigungen.

Journal: Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG

Published: August 16, 2022

Phacomatosis pigmentovascularis spilorosea and mutation in the PTPN11 gene: new case with significant neurologic impairment.

Phacomatosis pigmentovascularis spilorosea and mutation in the PTPN11 gene: new case with significant neurologic impairment.

Journal: Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG

Published: June 14, 2022

Expanding the PURA syndrome phenotype: A child with the recurrent PURA p.(Phe233del) pathogenic variant showing similarities with cutis laxa.

Expanding the PURA syndrome phenotype: A child with the recurrent PURA p.(Phe233del) pathogenic variant showing similarities with cutis laxa.

Journal: Molecular genetics & genomic medicine

Published: June 29, 2020

Showing 1-12 of 28

Last Updated: 09/26/2026