Search Results - "Rivolta, Carlo"

Worldwide carrier frequency and genetic prevalence of autosomal recessive inherited retinal diseases by Hanany, Mor, Rivolta, Carlo, Sharon, Dror

“…One of the major questions in human genetics is what percentage of individuals in the general population carry a disease-causing mutation. Based on publicly…”
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AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data by Quinodoz, Mathieu, Peter, Virginie G, Bedoni, Nicola, Royer Bertrand, Béryl, Cisarova, Katarina, Salmaninejad, Arash, Sepahi, Neda, Rodrigues, Raquel, Piran, Mehran, Mojarrad, Majid, Pasdar, Alireza, Ghanbari Asad, Ali, Fonseca Vieira Álvares Sousa Ferrand Almeida, Ana Berta, Santos, Maria Luisa, Superti-Furga, Andrea, Rivolta, Carlo

“…© The Author(s) 2021. Open AccessThis article is licensed under a Creative CommonsAttribution 4.0 International License, which permits use, sharing,adaptation,…”
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Rockfall forecasting and risk management along a major transportation corridor in the Alps through ground-based radar interferometry by Carlà, Tommaso, Nolesini, Teresa, Solari, Lorenzo, Rivolta, Carlo, Dei Cas, Luca, Casagli, Nicola

“…Rockfalls are a recurrent cause of disruption for transportation corridors running along the bottom of U-shaped alpine valleys. In some scenarios, risk may…”
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Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity by Quinodoz, Mathieu, Peter, Virginie G., Cisarova, Katarina, Royer-Bertrand, Beryl, Stenson, Peter D., Cooper, David N., Unger, Sheila, Superti-Furga, Andrea, Rivolta, Carlo

“…We used a machine learning approach to analyze the within-gene distribution of missense variants observed in hereditary conditions and cancer. When applied to…”
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Mineralocorticoid receptor antagonism limits experimental choroidal neovascularization and structural changes associated with neovascular age-related macular degeneration by Zhao, Min, Mantel, Irmela, Gelize, Emmanuelle, Li, Xinxin, Xie, Xiaoyue, Arboleda, Alejandro, Seminel, Marie, Levy-Boukris, Rinath, Dernigoghossian, Marilyn, Prunotto, Andrea, Andrieu-Soler, Charlotte, Rivolta, Carlo, Canonica, Jérémie, Naud, Marie-Christine, Lechner, Sebastian, Farman, Nicolette, Bravo-Osuna, Irene, Herrero-Vanrell, Rocio, Jaisser, Frederic, Behar-Cohen, Francine

“…Choroidal neovascularization (CNV) is a major cause of visual impairment in patients suffering from wet age-related macular degeneration (AMD), particularly…”
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CEP78 functions downstream of CEP350 to control biogenesis of primary cilia by negatively regulating CP110 levels by Gonçalves, André Brás, Hasselbalch, Sarah Kirstine, Joensen, Beinta Biskopstø, Patzke, Sebastian, Martens, Pernille, Ohlsen, Signe Krogh, Quinodoz, Mathieu, Nikopoulos, Konstantinos, Suleiman, Reem, Damsø Jeppesen, Magnus Per, Weiss, Catja, Christensen, Søren Tvorup, Rivolta, Carlo, Andersen, Jens S, Farinelli, Pietro, Pedersen, Lotte Bang

“…CEP78 is a centrosomal protein implicated in ciliogenesis and ciliary length control, and mutations in the CEP78 gene cause retinal cone-rod dystrophy…”
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Cortical-Bone Fragility — Insights from sFRP4 Deficiency in Pyle’s Disease by Simsek Kiper, Pelin O, Saito, Hiroaki, Gori, Francesca, Unger, Sheila, Hesse, Eric, Yamana, Kei, Kiviranta, Riku, Solban, Nicolas, Liu, Jeff, Brommage, Robert, Boduroglu, Koray, Bonafé, Luisa, Campos-Xavier, Belinda, Dikoglu, Esra, Eastell, Richard, Gossiel, Fatma, Harshman, Keith, Nishimura, Gen, Girisha, Katta M, Stevenson, Brian J, Takita, Hiroyuki, Rivolta, Carlo, Superti-Furga, Andrea, Baron, Roland

“…Little is known about the regulation of cortical bone. This genetic study showed that suppression of Wnt-signaling pathways by secreted frizzled-related…”
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CNOT3 is a modifier of PRPF31 mutations in retinitis pigmentosa with incomplete penetrance by Venturini, Giulia, Rose, Anna M, Shah, Amna Z, Bhattacharya, Shomi S, Rivolta, Carlo

“…Heterozygous mutations in the PRPF31 gene cause autosomal dominant retinitis pigmentosa (adRP), a hereditary disorder leading to progressive blindness. In some…”
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Genes associated with retinitis pigmentosa and allied diseases are frequently mutated in the general population by Nishiguchi, Koji M, Rivolta, Carlo

“…Retinitis pigmentosa and other hereditary retinal degenerations (HRD) are rare genetic diseases leading to progressive blindness. Recessive HRD are caused by…”
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Whole exome sequencing in 17 consanguineous Iranian pedigrees expands the mutational spectrum of inherited retinal dystrophies by Rehman, Atta Ur, Sepahi, Neda, Bedoni, Nicola, Ravesh, Zeinab, Salmaninejad, Arash, Cancellieri, Francesca, Peter, Virginie G., Quinodoz, Mathieu, Mojarrad, Majid, Pasdar, Alireza, Asad, Ali Ghanbari, Ghalamkari, Saman, Piran, Mehran, Piran, Mehrdad, Superti-Furga, Andrea, Rivolta, Carlo

“…Inherited retinal dystrophies (IRDs) constitute one of the most heterogeneous groups of Mendelian human disorders. Using autozygome-guided next-generation…”
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A Missense Mutation in PRPF6 Causes Impairment of pre-mRNA Splicing and Autosomal-Dominant Retinitis Pigmentosa by Tanackovic, Goranka, Ransijn, Adriana, Ayuso, Carmen, Harper, Shyana, Berson, Eliot L., Rivolta, Carlo

“…Retinitis pigmentosa (RP) is an inherited form of retinal degeneration that leads to progressive visual-field constriction and blindness. Although the disease…”
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Genomic and transcriptomic landscape of conjunctival melanoma by Cisarova, Katarina, Folcher, Marc, El Zaoui, Ikram, Pescini-Gobert, Rosanna, Peter, Virginie G, Royer-Bertrand, Beryl, Zografos, Leonidas, Schalenbourg, Ann, Nicolas, Michael, Rimoldi, Donata, Leyvraz, Serge, Riggi, Nicolò, Moulin, Alexandre P, Rivolta, Carlo

“…Conjunctival melanoma (CJM) is a rare but potentially lethal and highly-recurrent cancer of the eye. Similar to cutaneous melanoma (CM), it originates from…”
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EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay by Volpi, Stefano, Yamazaki, Yasuhiro, Brauer, Patrick M, van Rooijen, Ellen, Hayashida, Atsuko, Slavotinek, Anne, Sun Kuehn, Hye, Di Rocco, Maja, Rivolta, Carlo, Bortolomai, Ileana, Du, Likun, Felgentreff, Kerstin, Ott de Bruin, Lisa, Hayashida, Kazutaka, Freedman, George, Marcovecchio, Genni Enza, Capuder, Kelly, Rath, Prisni, Luche, Nicole, Hagedorn, Elliott J, Buoncompagni, Antonella, Royer-Bertrand, Beryl, Giliani, Silvia, Poliani, Pietro Luigi, Imberti, Luisa, Dobbs, Kerry, Poulain, Fabienne E, Martini, Alberto, Manis, John, Linhardt, Robert J, Bosticardo, Marita, Rosenzweig, Sergio Damian, Lee, Hane, Puck, Jennifer M, Zúñiga-Pflücker, Juan Carlos, Zon, Leonard, Park, Pyong Woo, Superti-Furga, Andrea, Notarangelo, Luigi D

“…We studied three patients with severe skeletal dysplasia, T cell immunodeficiency, and developmental delay. Whole-exome sequencing revealed homozygous missense…”
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Genetic predisposition and environmental factors associated with the development of atopic dermatitis in infancy: a prospective birth cohort study by Gallay, Caroline, Meylan, Patrick, Mermoud, Sophie, Johannsen, Alexandre, Lang, Caroline, Rivolta, Carlo, Christen-Zaech, Stephanie

“…The influence of environmental factors on atopic dermatitis (AD) has been investigated in many cross-sectional studies. It remains however unclear if they…”
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Assessing the Hazard of Deep-Seated Rock Slope Instability through the Description of Potential Failure Scenarios, Cross-Validated Using Several Remote Sensing and Monitoring Techniques by Wolff, Charlotte, Jaboyedoff, Michel, Fei, Li, Pedrazzini, Andrea, Derron, Marc-Henri, Rivolta, Carlo, Merrien-Soukatchoff, Véronique

“…Foreseeing the failure of important unstable volumes is a major concern in the Alps, especially due to the presence of people and infrastructures in the…”
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Whole exome sequencing and homozygosity mapping reveals genetic defects in consanguineous Iranian families with inherited retinal dystrophies by Salmaninejad, Arash, Bedoni, Nicola, Ravesh, Zeinab, Quinodoz, Mathieu, Shoeibi, Nasser, Mojarrad, Majid, Pasdar, Alireza, Rivolta, Carlo

“…Inherited retinal dystrophies (IRDs), displaying pronounced genetic and clinical heterogeneity, comprise of a broad range of diseases characterized by…”
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Clinical characteristics and high resolution retinal imaging of retinitis pigmentosa caused by RP1 gene variants by Ueno, Shinji, Koyanagi, Yoshito, Kominami, Taro, Ito, Yasuki, Kawano, Kenichi, Nishiguchi, Koji M., Rivolta, Carlo, Nakazawa, Toru, Sonoda, Koh-Hei, Terasaki, Hiroko

“…Purpose To report the clinical course and high resolution images of autosomal recessive retinitis pigmentosa (RP) associated with a variant of the RP1 gene…”
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Herpes simplex encephalitis due to a mutation in an E3 ubiquitin ligase by Bibert, Stéphanie, Quinodoz, Mathieu, Perriot, Sylvain, Krebs, Fanny S., Jan, Maxime, Malta, Rita C., Collinet, Emilie, Canales, Mathieu, Mathias, Amandine, Faignart, Nicole, Roulet-Perez, Eliane, Meylan, Pascal, Brouillet, René, Opota, Onya, Lozano-Calderon, Leyder, Fellmann, Florence, Guex, Nicolas, Zoete, Vincent, Asner, Sandra, Rivolta, Carlo, Du Pasquier, Renaud, Bochud, Pierre-Yves

“…Encephalitis is a rare and potentially fatal manifestation of herpes simplex type 1 infection. Following genome-wide genetic analyses, we identified a…”
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Fine-tuning FAM161A gene augmentation therapy to restore retinal function by Arsenijevic, Yvan, Chang, Ning, Mercey, Olivier, El Fersioui, Younes, Koskiniemi-Kuendig, Hanna, Joubert, Caroline, Bemelmans, Alexis-Pierre, Rivolta, Carlo, Banin, Eyal, Sharon, Dror, Guichard, Paul, Hamel, Virginie, Kostic, Corinne

“…For 15 years, gene therapy has been viewed as a beacon of hope for inherited retinal diseases. Many preclinical investigations have centered around vectors…”
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UV light signature in conjunctival melanoma; not only skin should be protected from solar radiation by Rivolta, Carlo, Royer-Bertrand, Beryl, Rimoldi, Donata, Schalenbourg, Ann, Zografos, Leonidas, Leyvraz, Serge, Moulin, Alexandre

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