Valeria Cinquina

Affiliations

Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy.

ORCID: https://orcid.org/0000-0002-1545-4801

Publications (20)

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

American journal of medical genetics. Part A

Avec: Marco Ritelli , Nicola Chiarelli , Valeria Cinquina , Marika Vezzoli , Marina Venturini , Marina Colombi

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.

American journal of medical genetics. Part A

Avec: Marco Ritelli , Nicola Chiarelli , Valeria Cinquina , Valeria Bertini , Silvia Piantoni , Alessia Caproli , Silvia Ebe Lucia Della Pinna , Franco Franceschini , Guido Zarattini , Woodrow Gandy , Marina Venturini , Nicoletta Zoppi , Marina Colombi

Life-long impairment of glucose homeostasis upon prenatal exposure to psychostimulants.

The EMBO journal

Avec: Solomiia Korchynska , Maria Krassnitzer , Katarzyna Malenczyk , Rashmi B Prasad , Evgenii O Tretiakov , Sabah Rehman , Valentina Cinquina , Victoria Gernedl , Matthias Farlik , Julian Petersen , Sophia Hannes , Julia Schachenhofer , Sonali N Reisinger , Alice Zambon , Olof Asplund , Isabella Artner , Erik Keimpema , Gert Lubec , Jan Mulder , Christoph Bock , Daniela D Pollak , Roman A Romanov , Christian Pifl , Leif Groop , Tomas Gm Hökfelt , Tibor Harkany

Application of the 2017 criteria for vascular Ehlers-Danlos syndrome in 50 patients ascertained according to the Villefranche nosology.

Clinical genetics

Avec: Marco Ritelli , Chiara Rovati , Marina Venturini , Nicola Chiarelli , Valeria Cinquina , Marco Castori , Marina Colombi

Genotypic Categorization of Loeys-Dietz Syndrome Based on 24 Novel Families and Literature Data.

Genes

Avec: Letizia Camerota , Marco Ritelli , Anita Wischmeijer , Silvia Majore , Valeria Cinquina , Paola Fortugno , Rosanna Monetta , Laura Gigante , Marfan Syndrome Study Group Tor Vergata University Hospital , Federica Carla Sangiuolo , Giuseppe Novelli , Marina Colombi , Francesco Brancati

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

Biochimica et biophysica acta. Molecular basis of disease

Avec: Nicola Chiarelli , Valeria Cinquina , Paolo Martini , Valeria Bertini , Nicoletta Zoppi , Marina Venturini , Marco Ritelli , Marina Colombi

Identification of the novel COL5A1 c.3369_3431dup, p.(Glu1124_Gly1144dup) variant in a patient with incomplete classical Ehlers-Danlos syndrome: The importance of phenotype-guided genetic testing.

Molecular genetics & genomic medicine

Avec: Marco Ritelli , Valeria Cinquina , Marina Venturini , Marina Colombi

GPR55 controls functional differentiation of self-renewing epithelial progenitors for salivation.

JCI insight

Avec: Solomiia Korchynska , Mirjam I Lutz , Erzsébet Borók , Johannes Pammer , Valentina Cinquina , Nataliya Fedirko , Andrew J Irving , Ken Mackie , Tibor Harkany , Erik Keimpema

Expanding the Clinical and Mutational Spectrum of Recessive

Genes

Avec: Marco Ritelli , Valeria Cinquina , Marina Venturini , Letizia Pezzaioli , Anna Maria Formenti , Nicola Chiarelli , Marina Colombi

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

Molecular genetics & genomic medicine

Avec: Valeria Cinquina , Claudia Ciaccio , Marina Venturini , Riccardo Masson , Marco Ritelli , Marina Colombi

Adverse effects of gestational ω-3 and ω-6 polyunsaturated fatty acid imbalance on the programming of fetal brain development.

Journal of neuroendocrinology

Avec: Valentina Cinquina , Erik Keimpema , Daniela D Pollak , Tibor Harkany

Clinical and molecular characterization of an 18-month-old infant with autosomal recessive cutis laxa type 1C due to a novel LTBP4 pathogenic variant, and literature review.

Molecular genetics & genomic medicine

Avec: Marco Ritelli , Francisco Cammarata-Scalisi , Valeria Cinquina , Marina Colombi

Clinical and Molecular Characterization of Classical-Like Ehlers-Danlos Syndrome Due to a Novel

Genes

Avec: Daisy Rymen , Marco Ritelli , Nicoletta Zoppi , Valeria Cinquina , Cecilia Giunta , Marianne Rohrbach , Marina Colombi

Genome-first approach for the characterization of a complex phenotype with combined NBAS and CUL4B deficiency.

Bone

Avec: Marco Ritelli , Eleonora Palagano , Valeria Cinquina , Federica Beccagutti , Nicola Chiarelli , Dario Strina , Ignacio Fernando Hall , Anna Villa , Cristina Sobacchi , Marina Colombi

Multisystemic manifestations in a cohort of 75 classical Ehlers-Danlos syndrome patients: natural history and nosological perspectives.

Orphanet journal of rare diseases

Avec: Marco Ritelli , Marina Venturini , Valeria Cinquina , Nicola Chiarelli , Marina Colombi

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

European journal of human genetics : EJHG

Avec: Paola Fortugno , Rosanna Monetta , Valeria Cinquina , Chiara Rigon , Francesca Boaretto , Chiara De Luca , Nicoletta Zoppi , Luana Di Leandro , Emanuela De Domenico , Arianna Di Daniele , Rodolfo Ippoliti , Francesco Angelucci , Ernesto Di Cesare , Ruggero De Paulis , Leonardo Salviati , Marina Colombi , Francesco Brancati , Marco Ritelli

Life-long epigenetic programming of cortical architecture by maternal 'Western' diet during pregnancy.

Molecular psychiatry

Avec: Valentina Cinquina , Daniela Calvigioni , Matthias Farlik , Florian Halbritter , Victoria Fife-Gernedl , Sally L Shirran , Matthew A Fuszard , Catherine H Botting , Patrick Poullet , Fabiana Piscitelli , Zoltán Máté , Gábor Szabó , Yuchio Yanagawa , Siegfried Kasper , Vincenzo Di Marzo , Ken Mackie , Chris J McBain , Christoph Bock , Erik Keimpema , Tibor Harkany

Further Defining the Phenotypic Spectrum of B3GAT3 Mutations and Literature Review on Linkeropathy Syndromes.

Genes

Avec: Marco Ritelli , Valeria Cinquina , Edoardo Giacopuzzi , Marina Venturini , Nicola Chiarelli , Marina Colombi

Physiological Rules of Endocannabinoid Action During Fetal and Neonatal Brain Development.

Cannabis and cannabinoid research

Avec: Tibor Harkany , Valentina Cinquina

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.

Cells

Avec: Marco Ritelli , Nicola Chiarelli , Valeria Cinquina , Nicoletta Zoppi , Valeria Bertini , Marina Venturini , Marina Colombi

Réseau de co-auteurs

Marco Ritelli 15 collaborations

Marina Colombi 15 collaborations

Marina Venturini 10 collaborations

Nicola Chiarelli 9 collaborations

Nicoletta Zoppi 5 collaborations

Valentina Cinquina 5 collaborations

Tibor Harkany 5 collaborations

Erik Keimpema 4 collaborations

Valeria Bertini 3 collaborations

Solomiia Korchynska 2 collaborations

Matthias Farlik 2 collaborations

Christoph Bock 2 collaborations

Daniela D Pollak 2 collaborations

Paola Fortugno 2 collaborations

Rosanna Monetta 2 collaborations

Francesco Brancati 2 collaborations

Ken Mackie 2 collaborations

Marika Vezzoli 1 collaboration

Silvia Piantoni 1 collaboration

Alessia Caproli 1 collaboration

Silvia Ebe Lucia Della Pinna 1 collaboration

Franco Franceschini 1 collaboration

Guido Zarattini 1 collaboration

Woodrow Gandy 1 collaboration

Maria Krassnitzer 1 collaboration

Katarzyna Malenczyk 1 collaboration

Rashmi B Prasad 1 collaboration

Evgenii O Tretiakov 1 collaboration

Sabah Rehman 1 collaboration

Victoria Gernedl 1 collaboration

Julian Petersen 1 collaboration

Sophia Hannes 1 collaboration

Julia Schachenhofer 1 collaboration

Sonali N Reisinger 1 collaboration

Alice Zambon 1 collaboration

Olof Asplund 1 collaboration

Isabella Artner 1 collaboration

Gert Lubec 1 collaboration

Jan Mulder 1 collaboration

Roman A Romanov 1 collaboration

Christian Pifl 1 collaboration

Leif Groop 1 collaboration

Tomas Gm Hökfelt 1 collaboration

Chiara Rovati 1 collaboration

Marco Castori 1 collaboration

Letizia Camerota 1 collaboration

Anita Wischmeijer 1 collaboration

Silvia Majore 1 collaboration

Laura Gigante 1 collaboration

None Marfan Syndrome Study Group Tor Vergata University Hospital 1 collaboration

Federica Carla Sangiuolo 1 collaboration

Giuseppe Novelli 1 collaboration

Paolo Martini 1 collaboration

Mirjam I Lutz 1 collaboration

Erzsébet Borók 1 collaboration

Johannes Pammer 1 collaboration

Nataliya Fedirko 1 collaboration

Andrew J Irving 1 collaboration

Letizia Pezzaioli 1 collaboration

Anna Maria Formenti 1 collaboration

Claudia Ciaccio 1 collaboration

Riccardo Masson 1 collaboration

Francisco Cammarata-Scalisi 1 collaboration

Daisy Rymen 1 collaboration

Cecilia Giunta 1 collaboration

Marianne Rohrbach 1 collaboration

Eleonora Palagano 1 collaboration

Federica Beccagutti 1 collaboration

Dario Strina 1 collaboration

Ignacio Fernando Hall 1 collaboration

Anna Villa 1 collaboration

Cristina Sobacchi 1 collaboration

Chiara Rigon 1 collaboration

Francesca Boaretto 1 collaboration

Chiara De Luca 1 collaboration

Luana Di Leandro 1 collaboration

Emanuela De Domenico 1 collaboration

Arianna Di Daniele 1 collaboration

Rodolfo Ippoliti 1 collaboration

Francesco Angelucci 1 collaboration

Ernesto Di Cesare 1 collaboration

Ruggero De Paulis 1 collaboration

Leonardo Salviati 1 collaboration

Daniela Calvigioni 1 collaboration

Florian Halbritter 1 collaboration

Victoria Fife-Gernedl 1 collaboration

Sally L Shirran 1 collaboration

Matthew A Fuszard 1 collaboration

Catherine H Botting 1 collaboration

Patrick Poullet 1 collaboration

Fabiana Piscitelli 1 collaboration

Zoltán Máté 1 collaboration

Gábor Szabó 1 collaboration

Yuchio Yanagawa 1 collaboration

Siegfried Kasper 1 collaboration

Vincenzo Di Marzo 1 collaboration

Chris J McBain 1 collaboration

Edoardo Giacopuzzi 1 collaboration