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Roberto Ravazzolo

Roberto Ravazzolo

D-Index & Metrics

Genetics

D-Index
55
Citations
11294
World Ranking
3579
National Ranking
80

Overview

Roberto Ravazzolo is affiliated with the University of Genoa in Italy and conducts research primarily in the field of medicine. Their work spans several subfields, including rheumatology, pulmonary and respiratory medicine, and nephrology.

Their research focus includes topics such as heterotopic ossification and related conditions, medical imaging and pathology studies, and parathyroid disorders and treatments.

Among their recent publications are:

  • "Fibrodysplasia Ossificans Progressiva: What Have We Achieved and Where Are We Now? Follow-up to the 2015 Lorentz Workshop," 2021, Frontiers in Endocrinology
  • "Genomic Context and Mechanisms of the ACVR1 Mutation in Fibrodysplasia Ossificans Progressiva," 2021, Biomedicines
  • "Editorial of Special Issue "Fibrodysplasia Ossificans Progressiva: Studies on Disease Mechanism towards Novel Therapeutic Approaches"," 2022, Biomedicines

Frequent coauthors collaborating with Roberto Ravazzolo include:

  • Renata Bocciardi
  • Ruben D. de Ruiter
  • Bernard J. Smilde
  • Gerard Pals
  • Nathalie Bravenboer

Their work is often published in venues such as Biomedicines and Frontiers in Endocrinology, with multiple publications appearing in both.

Best Publications

  • TMEM16A, A Membrane Protein Associated with Calcium-Dependent Chloride Channel Activity

    Antonella Caputo;Emanuela Caci;Loretta Ferrera;Nicoletta Pedemonte

  • Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

    Sébastien Jacquemont;Alexandre Reymond;Flore Zufferey;Louise Harewood

  • Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma.

    H. Azzedine;A. Bolino;T. Taïeb;N. Birouk

  • Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium.

    Seri M;Cusano R;Gangarossa S;Caridi G

  • PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset Central Hypoventilation syndrome

    I Matera;T Bachetti;F Puppo;M Di Duca

  • MYH9-Related Disease: May-Hegglin Anomaly, Sebastian Syndrome, Fechtner Syndrome, and Epstein Syndrome Are not Distinct Entities but Represent a Variable Expression of a Single Illness

    Marco Seri;Alessandro Pecci;Filomena Di Bari;Roberto Cusano

  • Regulation of TMEM16A Chloride Channel Properties by Alternative Splicing

    Loretta Ferrera;Antonella Caputo;Ifeoma Ubby;Erica Bussani

  • Association of TMEM16A chloride channel overexpression with airway goblet cell metaplasia

    Paolo Scudieri;Emanuela Caci;Silvia Bruno;Loretta Ferrera

  • IL-4 is a potent modulator of ion transport in the human bronchial epithelium in vitro.

    Luis J. V. Galietta;Patrick Pagesy;Chiara Folli;Emanuela Caci

  • Betaine, Dimethyl Sulfoxide, and 7-Deaza-dGTP, a Powerful Mixture for Amplification of GC-Rich DNA Sequences

    Marco Musso;Renata Bocciardi;Sara Parodi;Roberto Ravazzolo

  • Neutrophils from patients with TNFRSF1A mutations display resistance to tumor necrosis factor–induced apoptosis: Pathogenetic and clinical implications

    Andrea D'Osualdo;Francesca Ferlito;Ignazia Prigione;Laura Obici

  • Polymorphisms in the osteopontin promoter affect its transcriptional activity.

    Francesca Giacopelli;Renato Marciano;Angela Pistorio;Paolo Catarsi

  • Thiocyanate Transport in Resting and IL-4-Stimulated Human Bronchial Epithelial Cells: Role of Pendrin and Anion Channels

    Nicoletta Pedemonte;Emanuela Caci;Elvira Sondo;Antonella Caputo

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

    Tiziana Bachetti;Ivana Matera;Silvia Borghini;Marco Di Duca

  • Lysyl oxidase activates the transcription activity of human collagene III promoter. Possible involvement of Ku antigen.

    M. Giampuzzi;G. Botti;M. Di Duca;L. Arata

  • Genetic polymorphism of the renin-angiotensin system and organ damage in essential hypertension

    Roberto Pontremoli;Maura Ravera;Francesca Viazzi;Clizia Nicolella

  • Ectodermal dysplasias: Not only 'skin' deep

    Manuela Priolo;M. Silengo;M. Lerone;R. Ravazzolo

  • Overexpression of the C-type natriuretic peptide (CNP) is associated with overgrowth and bone anomalies in an individual with balanced t(2;7) translocation.

    Renata Bocciardi;Roberto Giorda;Jens Buttgereit;Jens Buttgereit;Stefania Gimelli

  • The deletion polymorphism of the angiotensin I-converting enzyme gene is associated with target organ damage in essential hypertension.

    Roberto Pontremoli;Antonella Sofia;Angelito Tirotta;Maura Ravera

  • Two single-nucleotide polymorphisms in the 5' and 3' ends of the osteopontin gene contribute to susceptibility to systemic lupus erythematosus.

    S. D'Alfonso;N. Barizzone;M. Giordano;A. Chiocchetti

Frequent Co-Authors

Isabella Ceccherini
Isabella Ceccherini University of Genoa
Marco Seri
Marco Seri University of Bologna
Luis J. V. Galietta
Luis J. V. Galietta Telethon Institute Of Genetics And Medicine
Gian Marco Ghiggeri
Gian Marco Ghiggeri Istituto Giannina Gaslini
Marcella Devoto
Marcella Devoto University of Pennsylvania
Marco Gattorno
Marco Gattorno Istituto Giannina Gaslini
Giovanni Romeo
Giovanni Romeo University of Bologna
Alberto Martini
Alberto Martini University of Genoa
Robert M.W. Hofstra
Robert M.W. Hofstra Erasmus University Rotterdam
Stylianos E. Antonarakis
Stylianos E. Antonarakis University of Geneva

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