Works matching AU Emma, Francesco

Results: 112
    1

    A Novel Mutation in RPL10 (Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal Dysplasia.

    Published in:
    Human Mutation, 2015, v. 36, n. 12, p. 1155, doi. 10.1002/humu.22860
    By:
    • Zanni, Ginevra;
    • Kalscheuer, Vera M.;
    • Friedrich, Andreas;
    • Barresi, Sabina;
    • Alfieri, Paolo;
    • Di Capua, Matteo;
    • Haas, Stefan A.;
    • Piccini, Giorgia;
    • Karl, Thomas;
    • Klauck, Sabine M.;
    • Bellacchio, Emanuele;
    • Emma, Francesco;
    • Cappa, Marco;
    • Bertini, Enrico;
    • Breitenbach‐Koller, Lore
    Publication type:
    Article
    2

    MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement.

    Published in:
    Human Mutation, 2009, v. 30, n. 2, p. E432, doi. 10.1002/humu.20924
    By:
    • Brancati, Francesco;
    • Iannicelli, Miriam;
    • Travaglini, Lorena;
    • Mazzotta, Annalisa;
    • Bertini, Enrico;
    • Boltshauser, Eugen;
    • D'Arrigo, Stefano;
    • Emma, Francesco;
    • Fazzi, Elisa;
    • Gallizzi, Romina;
    • Gentile, Mattia;
    • Loncarevic, Damir;
    • Mejaski-Bosnjak, Vlatka;
    • Pantaleoni, Chiara;
    • Rigoli, Luciana;
    • Salpietro, Carmelo D.;
    • Signorini, Sabrina;
    • Stringini, Gilda Rita;
    • Verloes, Alain;
    • Zabloka, Dominika
    Publication type:
    Article
    3

    Gender-related effects on urine l-cystine metastability.

    Published in:
    Amino Acids, 2014, v. 46, n. 2, p. 415, doi. 10.1007/s00726-013-1631-9
    By:
    • Masotti, Andrea;
    • Laurenzi, Chiara;
    • Boenzi, Sara;
    • Pastore, Anna;
    • Taranta, Anna;
    • Bellomo, Francesco;
    • Muraca, Maurizio;
    • Dionisi-Vici, Carlo;
    • Bertucci, Pierfrancesco;
    • Strologo, Luca;
    • Emma, Francesco
    Publication type:
    Article
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    Distribution of cystinosin-LKG in human tissues.

    Published in:
    Histochemistry & Cell Biology, 2012, v. 138, n. 2, p. 351, doi. 10.1007/s00418-012-0958-8
    By:
    • Taranta, Anna;
    • Petrini, Stefania;
    • Citti, Arianna;
    • Boldrini, Renata;
    • Corallini, Serena;
    • Bellomo, Francesco;
    • Levtchenko, Elena;
    • Emma, Francesco
    Publication type:
    Article
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    Nlrp2 deletion ameliorates kidney damage in a mouse model of cystinosis.

    Published in:
    Frontiers in Immunology, 2024, p. 1, doi. 10.3389/fimmu.2024.1373224
    By:
    • Rossi, Marianna Nicoletta;
    • Matteo, Valentina;
    • Diomedi-Camassei, Francesca;
    • De Leo, Ester;
    • Devuyst, Olivier;
    • Lamkanfi, Mohamed;
    • Caiello, Ivan;
    • Loricchio, Elena;
    • Bellomo, Francesco;
    • Taranta, Anna;
    • Emma, Francesco;
    • De Benedetti, Fabrizio;
    • Prencipe, Giusi
    Publication type:
    Article
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    Validation of the Oxford classification of IgA nephropathy in cohorts with different presentations and treatments.

    Published in:
    Kidney International, 2014, v. 86, n. 4, p. 828, doi. 10.1038/ki.2014.63
    By:
    • Coppo, Rosanna;
    • Troyanov, Stéphan;
    • Bellur, Shubha;
    • Cattran, Daniel;
    • Cook, H Terence;
    • Feehally, John;
    • Roberts, Ian S D;
    • Morando, Laura;
    • Camilla, Roberta;
    • Tesar, Vladimir;
    • Lunberg, Sigrid;
    • Gesualdo, Loreto;
    • Emma, Francesco;
    • Rollino, Cristiana;
    • Amore, Alessandro;
    • Praga, Manuel;
    • Feriozzi, Sandro;
    • Segoloni, Giuseppe;
    • Pani, Antonello;
    • Cancarini, Giovanni
    Publication type:
    Article
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    Cystinosis metabolic bone disease: inflammatory profile in human peripheral blood mononuclear cells and derived osteoclasts.

    Published in:
    European Journal of Pediatrics, 2025, v. 184, n. 1, p. 1, doi. 10.1007/s00431-024-05851-6
    By:
    • Alioli, Candide;
    • Greco, Marcella;
    • Méaux, Marie-Noëlle;
    • Harambat, Jérome;
    • Topaloglu, Rezan;
    • Nobili, François;
    • Bertholet-Thomas, Aurélia;
    • Rousset-Rouviere, Caroline;
    • Portefaix, Aurélie;
    • Dumortier, Claire;
    • Emma, Francesco;
    • Machuca-Gayet, Irma;
    • Bacchetta, Justine
    Publication type:
    Article
    30

    Unusual Presentation of Denys-Drash Syndrome in a Girl with Undisclosed Consumption of Biotin.

    Published in:
    Journal of Clinical Research in Pediatric Endocrinology, 2021, v. 13, n. 3, p. 347, doi. 10.4274/jcrpe.galenos.2020.2020.0064
    By:
    • Bizzarri, Carla;
    • Giannone, Germana Antonella;
    • Gervasoni, Jacopo;
    • Benedetti, Sabina;
    • Albanese, Federica;
    • Strologo, Luca Dello;
    • Guzzo, Isabella;
    • Mucciolo, Mafalda;
    • Camassei, Francesca Diomedi;
    • Emma, Francesco;
    • Cappa, Marco;
    • Porzio, Ottavia
    Publication type:
    Article
    31

    Clinical utility gene card for: Cystinosis.

    Published in:
    European Journal of Human Genetics, 2014, v. 22, n. 5, p. 1, doi. 10.1038/ejhg.2013.204
    By:
    • Levtchenko, Elena;
    • van den Heuvel, Lambertus;
    • Emma, Francesco;
    • Antignac, Corinne
    Publication type:
    Article
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    Distal renal tubular acidosis: ERKNet/ESPN clinical practice points.

    Published in:
    Nephrology Dialysis Transplantation, 2021, v. 36, n. 9, p. 1585, doi. 10.1093/ndt/gfab171
    By:
    • Trepiccione, Francesco;
    • Walsh, Steven B;
    • Ariceta, Gema;
    • Boyer, Olivia;
    • Emma, Francesco;
    • Camilla, Roberta;
    • Ferraro, Pietro Manuel;
    • Haffner, Dieter;
    • Konrad, Martin;
    • Levtchenko, Elena;
    • Lopez-Garcia, Sergio Camilo;
    • Santos, Fernando;
    • Stabouli, Stella;
    • Szczepanska, Maria;
    • Tasic, Velibor;
    • Topaloglu, Rezan;
    • Vargas-Poussou, Rosa;
    • Wlodkowski, Tanja;
    • Bockenhauer, Detlef
    Publication type:
    Article
    35

    Impaired urinary concentration ability is a sensitive predictor of renal disease progression in Joubert syndrome.

    Published in:
    Nephrology Dialysis Transplantation, 2020, v. 35, n. 7, p. 1195, doi. 10.1093/ndt/gfy333
    By:
    • Nuovo, Sara;
    • Fuiano, Laura;
    • Micalizzi, Alessia;
    • Battini, Roberta;
    • Bertini, Enrico;
    • Borgatti, Renato;
    • Caridi, Gianluca;
    • D'Arrigo, Stefano;
    • Fazzi, Elisa;
    • Fischetto, Rita;
    • Ghiggeri, Gian Marco;
    • Giordano, Lucio;
    • Leuzzi, Vincenzo;
    • Romaniello, Romina;
    • Signorini, Sabrina;
    • Stringini, Gilda;
    • Zanni, Ginevra;
    • Romani, Marta;
    • Valente, Enza Maria;
    • Emma, Francesco
    Publication type:
    Article
    36

    Is there long-term value of pathology scoring in immunoglobulin A nephropathy? A validation study of the Oxford Classification for IgA Nephropathy (VALIGA) update.

    Published in:
    Nephrology Dialysis Transplantation, 2020, v. 35, n. 6, p. 1002, doi. 10.1093/ndt/gfy302
    By:
    • Coppo, Rosanna;
    • D'Arrigo, Graziella;
    • Tripepi, Giovanni;
    • Russo, Maria Luisa;
    • Roberts, Ian S D;
    • Bellur, Shubha;
    • Cattran, Daniel;
    • Cook, Terence H;
    • Feehally, John;
    • Tesar, Vladimir;
    • Maixnerova, Dita;
    • Peruzzi, Licia;
    • Amore, Alessandro;
    • Lundberg, Sigrid;
    • Palma, Anna Maria Di;
    • Gesualdo, Loreto;
    • Emma, Francesco;
    • Rollino, Cristiana;
    • Praga, Manuel;
    • Biancone, Luigi
    Publication type:
    Article
    37

    Treatment and long-term outcome in primary distal renal tubular acidosis.

    Published in:
    Nephrology Dialysis Transplantation, 2019, v. 34, n. 6, p. 981, doi. 10.1093/ndt/gfy409
    By:
    • Lopez-Garcia, Sergio Camilo;
    • Emma, Francesco;
    • Walsh, Stephen B;
    • Fila, Marc;
    • Hooman, Nakysa;
    • Zaniew, Marcin;
    • Bertholet-Thomas, Aurélia;
    • Colussi, Giacomo;
    • Burgmaier, Kathrin;
    • Levtchenko, Elena;
    • Sharma, Jyoti;
    • Singhal, Jyoti;
    • Soliman, Neveen A;
    • Ariceta, Gema;
    • Basu, Biswanath;
    • Murer, Luisa;
    • Tasic, Velibor;
    • Tsygin, Alexey;
    • Decramer, Stéphane;
    • Gil-Peña, Helena
    Publication type:
    Article
    38

    Outcome of childhood-onset full-house nephropathy.

    Published in:
    Nephrology Dialysis Transplantation, 2017, v. 32, n. 7, p. 1194, doi. 10.1093/ndt/gfw230
    By:
    • Ruggiero, Barbara;
    • Vivarelli, Marina;
    • Gianviti, Alessandra;
    • Pecoraro, Carmine;
    • Peruzzi, Licia;
    • Benetti, Elisa;
    • Ventura, Giovanna;
    • Pennesi, Marco;
    • Murer, Luisa;
    • Coppo, Rosanna;
    • Emma, Francesco
    Publication type:
    Article
    39

    Recommendations for the use of tolvaptan in autosomal dominant polycystic kidney disease: a position statement on behalf of the ERA-EDTA Working Groups on Inherited Kidney Disorders and European Renal Best Practice.

    Published in:
    Nephrology Dialysis Transplantation, 2016, v. 31, n. 3, p. 337, doi. 10.1093/ndt/gfv456
    By:
    • Gansevoort, Ron T.;
    • Arici, Mustafa;
    • Benzing, Thomas;
    • Birn, Henrik;
    • Capasso, Giovambattista;
    • Covic, Adrian;
    • Devuyst, Olivier;
    • Drechsler, Christiane;
    • Eckardt, Kai-Uwe;
    • Emma, Francesco;
    • Knebelmann, Bertrand;
    • Meur, Yannick Le;
    • Massy, Ziad A.;
    • Ong, Albert C. M.;
    • Ortiz, Alberto;
    • Schaefer, Franz;
    • Torra, Roser;
    • Vanholder, Raymond;
    • Więcek, Andrzej;
    • Zoccali, Carmine
    Publication type:
    Article
    40

    Nephropathic cystinosis: an international consensus document.

    Published in:
    Nephrology Dialysis Transplantation, 2014, v. 29, n. suppl_4, p. iv87, doi. 10.1093/ndt/gfu090
    By:
    • Emma, Francesco;
    • Nesterova, Galina;
    • Langman, Craig;
    • Labbé, Antoine;
    • Cherqui, Stephanie;
    • Goodyer, Paul;
    • Janssen, Mirian C.;
    • Greco, Marcella;
    • Topaloglu, Rezan;
    • Elenberg, Ewa;
    • Dohil, Ranjan;
    • Trauner, Doris;
    • Antignac, Corinne;
    • Cochat, Pierre;
    • Kaskel, Frederick;
    • Servais, Aude;
    • Wühl, Elke;
    • Niaudet, Patrick;
    • Van't Hoff, William;
    • Gahl, William
    Publication type:
    Article
    41

    Lupus nephritis in children and adolescents: results of the Italian Collaborative Study.

    Published in:
    Nephrology Dialysis Transplantation, 2013, v. 28, n. 6, p. 1487, doi. 10.1093/ndt/gfs589
    By:
    • Ruggiero, Barbara;
    • Vivarelli, Marina;
    • Gianviti, Alessandra;
    • Benetti, Elisa;
    • Peruzzi, Licia;
    • Barbano, Giancarlo;
    • Corona, Fabrizia;
    • Ventura, Giovanna;
    • Pecoraro, Carmine;
    • Murer, Luisa;
    • Ghiggeri, Gian Marco;
    • Pennesi, Marco;
    • Edefonti, Alberto;
    • Coppo, Rosanna;
    • Emma, Francesco
    Publication type:
    Article
    42

    The ERA-EDTA Working Group on inherited kidney disorders.

    Published in:
    Nephrology Dialysis Transplantation, 2012, v. 27, n. 1, p. 67, doi. 10.1093/ndt/gfr764
    By:
    • Devuyst, Olivier;
    • Antignac, Corinne;
    • Bindels, René J.M.;
    • Chauveau, Dominique;
    • Emma, Francesco;
    • Gansevoort, Ron;
    • Maxwell, Patrick H.;
    • Ong, Albert C.M.;
    • Remuzzi, Giuseppe;
    • Ronco, Pierre;
    • Schaefer, Franz
    Publication type:
    Article
    43

    Genetic risk factors in typical haemolytic uraemic syndrome.

    Published in:
    Nephrology Dialysis Transplantation, 2009, v. 24, n. 6, p. 1851
    By:
    • Taranta, Anna;
    • Gianviti, Alessandra;
    • Palma, Alessia;
    • De Luca, Veronica;
    • Mannucci, Liliana;
    • Procaccino, Maria Antonietta;
    • Ghiggeri, Gian Marco;
    • Caridi, Gianluca;
    • Fruci, Doriana;
    • Ferracuti, Silvia;
    • Ferretti, Alfonso;
    • Pecoraro, Carmine;
    • Gaido, Maurizio;
    • Penza, Rosa;
    • Edefonti, Alberto;
    • Murer, Luisa;
    • Tozzi, Alberto E.;
    • Emma, Francesco
    Publication type:
    Article
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    C3 glomerulopathy in children: a European longitudinal study evaluating outcome.

    Published in:
    Pediatric Nephrology, 2025, v. 40, n. 4, p. 979, doi. 10.1007/s00467-024-06587-z
    By:
    • Cappoli, Andrea;
    • Kersnik-Levart, Tanja;
    • Silecchia, Valeria;
    • Ariceta, Gema;
    • Gjerstad, Ann Christin;
    • Ghiggeri, Gianmarco;
    • Haffner, Dieter;
    • Kanzelmeyer, Nele;
    • Levtchenko, Elena;
    • Pasini, Andrea;
    • Waters, Aoife;
    • Aguilera, Juan Cruz Len;
    • Peruzzi, Licia;
    • Noris, Marina;
    • Bresin, Elena;
    • Gargiulo, Antonio;
    • Emma, Francesco;
    • Vivarelli, Marina
    Publication type:
    Article
    48

    Addressing the psychosocial aspects of transition to adult care in patients with cystinosis.

    Published in:
    Pediatric Nephrology, 2024, v. 39, n. 10, p. 2861, doi. 10.1007/s00467-024-06345-1
    By:
    • Stabouli, Stella;
    • Sommer, Anna;
    • Kraft, Stefanie;
    • Schweer, Katharina;
    • Bethe, Dirk;
    • Bertholet-Thomas, Aurelia;
    • Batte, Suzanne;
    • Ariceta, Gema;
    • Brengmann, Sandra;
    • Bacchetta, Justine;
    • Emma, Francesco;
    • Levtchenko, Elena;
    • Topaloglu, Rezan;
    • Willem, Lore;
    • Haffner, Dieter;
    • Oh, Jun
    Publication type:
    Article
    49

    Childhood-onset IgA nephropathy: is long-term recovery possible?

    Published in:
    Pediatric Nephrology, 2024, v. 39, n. 6, p. 1837, doi. 10.1007/s00467-023-06259-4
    By:
    • Antonucci, Luca;
    • Fuiano, Laura;
    • Gargiulo, Antonio;
    • Gianviti, Alessandra;
    • Onetti Muda, Andrea;
    • Diomedi Camassei, Francesca;
    • Vivarelli, Marina;
    • Emma, Francesco
    Publication type:
    Article
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