Concepedia

Silvia Borghini

SB

17

Publications

673

Citations

13

H-Index

2002

Active since

Affiliations

Istituto Giannina Gaslini(Current)

University of Genoa

Istituti di Ricovero e Cura a Carattere Scientifico

Policlinico San Matteo Fondazione

University of Milan

Silvia Borghini is an author at Istituto Giannina Gaslini specializing in medicine, developmental biology, and gene expression.

Top concepts

MedicineGene ExpressionDevelopmental BiologyGeneticsTranscriptional RegulationCell BiologyCell SignalingGene RegulationPathologyBiochemistry

Publications per year

2002–2019

17

Publications

17

Clinical presentation and pathogenesis of cold-induced autoinflammatory disease in a family with recurrence of an NLRP12 mutation

Silvia Borghini, Sara Tassi, Sabrina Chiesa et al. · Arthritis & Rheumatism · 2010 · 182 citations · Full text

Distinct pathogenetic mechanisms for PHOX2B associated polyalanine expansions and frameshift mutations in congenital central hypoventilation syndrome

Tiziana Bachetti, Ivana Matera, Silvia Borghini et al. · Human Molecular Genetics · 2005 · 118 citations · Full text

Genetics, Distinct Pathogenetic Mechanisms, Transcriptional Regulation +18

The <i>TLX2</i> homeobox gene is a transcriptional target of PHOX2B in neural-crest-derived cells

Silvia Borghini, Tiziana Bachetti, Monica Fava et al. · Biochemical Journal · 2006 · 51 citations · Full text

Transcriptional Regulation, Systems Biology, Developmental Biology +15

PHOX2B-Mediated Regulation of ALK Expression: In Vitro Identification of a Functional Relationship between Two Genes Involved in Neuroblastoma

Tiziana Bachetti, Daniela Di Paolo, Simona Di Lascio et al. · PLoS ONE · 2010 · 50 citations · Full text

Cryopyrin-associated Periodic Syndromes in Italian Patients: Evaluation of the Rate of Somatic NLRP3 Mosaicism and Phenotypic Characterization

Denise Lasigliè, Anna Mensa‐Vilaró, Denise Ferrera et al. · The Journal of Rheumatology · 2017 · 39 citations · Full text

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