MARI, FRANCESCA

MARI, FRANCESCA  

Dipartimento di Biotecnologie Mediche  

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Titolo Data di pubblicazione Autore(i) File Abstract
13q Deletion syndrome and retinoblastoma in identical dichorionic diamniotic monozygotic twins 1-gen-2012 De Francesco, S.; Galluzzi, P.; Del Longo, A.; Piozzi, E.; Renieri, Alessandra; Menicacci, C.; Mari, Francesca; Munier, F.; Hadjistilianou, Theodora; Mastrangelo, D. -
13q Deletion Syndrome Involving RB1: Characterization of a New Minimal Critical Region for Psychomotor Delay 1-gen-2021 Privitera, F.; Calonaci, A.; Doddato, G.; Papa, F. T.; Baldassarri, M.; Pinto, A. M.; Mari, F.; Longo, I.; Caini, M.; Galimberti, D.; Hadjistilianou, T.; De Francesco, S.; Renieri, A.; Ariani, F. -
14q12 Microdeletion syndrome and congenital variant of Rett syndrome 1-gen-2009 Mencarelli, M. A.; Kleefstra, T.; Katzaki, E.; Papa, F. T.; Cohen, M.; Pfundt, R.; Ariani, F.; Meloni, I.; Mari, F.; Renieri, A. -
2q24-q31 deletion: report of a case and review of the literature 1-gen-2007 Pescucci, C.; Caselli, R.; Grosso, S.; Mencarelli, M. A.; Mari, F.; Farnetani, M. A.; Piccini, B.; Artuso, R.; Bruttini, M.; Priolo, M.; Zuffardi, O.; Gimelli, S.; Balestri, P.; Renieri, A. -
3.2 Mb microdeletion in chromosome 7 bands q22.2-q22.3 associated with overgrowth and delayed bone age 1-gen-2010 Uliana, V.; Grosso, S.; Cioni, M.; Ariani, F.; Pap, A. F. T.; Tamburello, S.; Rossi, E.; Katzaki, E.; Mucciolo, M.; Marozza, A.; Pollazzon, M.; Mencarelli, M. A.; Mari, F.; Balestri, P.; Renieri, A. -
9q31.1q31.3 deletion in two patients with similar clinical features: A newly recognized microdeletion syndrome? 1-gen-2014 Mucciolo, Mafalda; Magini, P.; Marozza, Annabella; Mongelli, P.; Mencarelli, MARIA ANTONIETTA; Hayek, G.; Tavalazzi, F.; Mari, Francesca; Seri, M.; Renieri, Alessandra; Graziano, C. -
A 2.6 Mb deletion of 6q24.3-25.1 in a patient with growth failure, cardiac septal defect, thin upperlip and asymmetric dysmorphic ears 1-gen-2007 Caselli, R.; Mencarelli, M. A.; Papa, F. T.; Uliana, V.; Schiavone, S.; Strambi, M.; Pescucci, C.; Ariani, F.; Rossi, V.; Longo, I.; Meloni, I.; Renieri, A.; Mari, F. -
A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features 1-gen-2008 Papa, F. T.; Mencarelli, M. A.; Caselli, R.; Katzaki, E.; Sampieri, K.; Meloni, I.; Ariani, F.; Longo, I.; Maggio, A.; Balestri, P.; Grosso, S.; Farnetani, M. A.; Berardi, R.; Mari, F.; Renieri, A. -
A 9.3 Mb microdeletion of 3q27.3q29 associated with psychomotor and growth delay, tricuspid valve dysplasia and bifid thumb 1-gen-2009 Pollazzon, M.; Grosso, S.; Papa, F. T.; Katzaki, E.; Marozza, A.; Mencarelli, M. A.; Uliana, V.; Balestri, P.; Mari, F.; Renieri, A. -
A case of spastic paraplegia type 11 mimicking a GM2-gangliosidosis 1-gen-2022 Lopergolo, D.; Berti, G.; Mari, F.; Bertini, E.; Rufa, A.; Battisti, C.; Sicurelli, F.; Renieri, A.; Federico, A.; Sandhoff, K.; Malandrini, A. -
A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. 1-gen-2013 Wieczorek, D; Bögershausen, N; Beleggia, F; Steiner Haldenstätt, S; Pohl, E; Li, Y; Milz, E; Martin, M; Thiele, H; Altmüller, J; Alanay, Y; Kayserili, H; Klein Hitpass, L; Böhringer, S; Wollstein, A; Albrecht, B; Boduroglu, K; Caliebe, A; Chrzanowska, K; Cogulu, O; Cristofoli, F; Czeschik, Jc; Devriendt, K; Dotti, Maria; Elcioglu, N; Gener, B; Goecke, To; Krajewska Walasek, M; Guillén Navarro, E; Hayek, J; Houge, G; Kilic, E; Simsek Kiper, Po; López González, V; Kuechler, A; Lyonnet, S; Mari, Francesca; Marozza, A; Mathieu Dramard, M; Mikat, B; Morin, G; Morice Picard, F; Ozkynay, F; Rauch, A; Renieri, Alessandra; Tinschert, S; Utine, Ge; Vilain, C; Vivarelli, R; Zweier, C; Nürnberg, P; Rahmann, S; Vermeesch, J; Lüdecke, Hj; Zeschnigk, M; Wollnik, B. -
A first update on mapping the human genetic architecture of COVID-19 1-gen-2022 Pathak, Ga; Polimanti, R; Karjalainen, J; Daly, M; Ganna, A; Daly, Mj; Stevens, C; Kanai, M; Liao, Rg; Trankiem, A; Balaconis, Mk; Nguyen, H; Solomonson, M; Veerapen, K; Ripatti, S; Nkambul, L; Bryant, S; Sankaran, Vg; Neale, Bm; Karczewski, Kj; Martin, Ar; Atkinson, Eg; Tsuo, K; Baya, N; Turley, P; Gupta, R; Walters, Rk; Palmer, Ds; Sarma, G; Cheng, N; Lu, W; Churchhouse, C; Goldstein, Ji; King, D; Zhou, W; Seed, C; Finucane, H; Satterstrom, Fk; Andrews, Sj; Sloofman, Lg; Sealfon, Sc; Hoggart, C; Underwood, Sj; Cordioli, M; Pirinen, M; Donner, K; Kivinen, K; Palotie, A; Kaunisto, M; Harerimana, N; Chwialkowska, K; Wolford, B; Roberts, G; Park, D; Ball, Ca; Coignet, M; Mccurdy, S; Knight, S; Partha, R; Rhead, B; Zhang, M; Berkowitz, N; Gaddis, M; Noto, K; Ruiz, L; Pavlovic, M; Hong, El; Rand, K; Girshick, A; Guturu, H; Baltzell, Ah; Niemi, Mek; Pigazzini, S; Rahmouni, S; Georges, M; Belhaj, Y; Guntz, J; Claassen, S; Beguin, Y; Gofflot, S; Nkambule, L; Nkambul, L; Cusick, C; Moutschen, M; Misset, B; Darcis, G; Guiot, J; Azarzar, S; Malaise, O; Huynen, P; Meuris, C; Thys, M; Jacques, J; Leonard, P; Frippiat, F; Giot, Jb; Sauvage, As; Von Frenckell, C; Lambermont, B; Nakanishi, T; Morrison, Dr; Richards, Jb; Butler-Laporte, G; Forgetta, V; Ghosh, B; Laurent, L; Henry, D; Abdullah, T; Adeleye, O; Mamlouk, N; Kimchi, N; Afrasiabi, Z; Rezk, N; Vulesevic, B; Bouab, M; Guzman, C; Petitjean, L; Tselios, C; Xue, Xq; Afilalo, J; Adra, D; Mooser, V; Li, R; Belisle, A; Lepage, P; Ragoussis, J; Auld, D; Lathrop, Gm; Afilalo, M; Oliveira, M; Brenner, B; Brassard, N; Durand, M; Chasse, M; Kaufmann, De; Schurr, E; Hayward, C; Richmond, A; Baillie, Jk; Glessner, Jt; Hakonarson, H; Chang, X; Shaw, Dm; Below, J; Polikowski, H; Lauren, Pe; Chen, Hh; Zhu, Wy; Davis, L; Kerchberger, Ve; Campbell, A; Porteous, Dj; Fawns-Ritchie, C; Morris, M; Mccormick, Jb; North, K; Glessner, Jr; Gignoux, Cr; Wicks, Sj; Crooks, K; Barnes, Kc; Daya, M; Shortt, J; Rafaels, N; Chavan, S; Timmers, Prhj; Wilson, Jf; Tenesa, A; Kerr, Sm; D'Mellow, K; Shahin, D; El-Sherbiny, Ym; El-Jawhari, Jj; von Hohenstaufen, Ka; Sobh, A; Eltoukhy, Mm; Mohamed, Aas; Elhadidy, Ta; Abd Elghafar, Ms; Elnagdy, Mh; Samir, A; Hegazy, Maf; Abdel-Aziz, M; Khafaga, Wt; El-Lawaty, Wm; Torky, Ms; Moahmed, Hs; El-shanshory, Mr; Yassen, Am; Okasha, K; Eid, Ma; Medina-Gomez, C; Uitterlinden, Ag; Ikram, Ma; Magi, R; Milani, L; Metspalu, A; Laisk, T; Lall, K; Lepamets, M; Esko, T; Reimann, E; Alavere, H; Metsalu, K; Puusepp, M; Naaber, P; Laane, E; Pesukova, J; Peterson, P; Kisand, K; Tabri, J; Allos, R; Hensen, K; Starkopf, J; Ringmets, I; Tamm, A; Kallaste, A; Batini, C; Tobin, Md; Venn, Ld; Lee, Ph; Shrine, N; Williams, At; Guyatt, Al; John, C; Packer, Rj; Ali, A; Wang, X; Wain, Lv; Bee, Ce; Adams, El; Free, Rc; Hollox, Ej; Ruotsalainen, S; Kristiansson, K; Koskelainen, S; Perola, M; Rivolta, C; Quinodoz, M; Kamdar, D; Bochud, Py; Boillat, N; Bibert, S; Nussle, Sg; Albrich, W; Suh, N; Neofytos, D; Erard, V; Voide, C; Friolet, R; Vollenweider, P; Pagani, Jl; Oddo, M; zu Bentrup, Fm; Conen, A; Clerc, O; Marchetti, O; Guillet, A; Guyat-Jacques, C; Foucras, S; Rime, M; Chassot, J; Jaquet, M; Viollet, Rm; Lannepoudenx, Y; Portopena, L; Bochud, Py; Desgranges, F; Filippidis, P; Guery, B; Haefliger, D; Kampouri, Ee; Manuel, O; Munting, A; Papadimitriou-Olivgeris, M; Regina, J; Rochat-Stettler, L; Suttels, V; Tadini, E; Tschopp, J; Van Singer, M; Viala, B; Boillat-Blanco, N; Brahier, T; Hugli, O; Meuwly, Jy; Pantet, O; Nussle, Sg; Bochud, M; D'Acremont, V; Younes, Se; Albrich, Wc; Suh, N; Cerny, A; O'Mahony, L; von Mering, C; Frischknecht, M; Kleger, Gr; Filipovic, M; Kahlert, Cr; Wozniak, H; Negro, Tr; Pugin, J; Bouras, K; Knapp, C; Egger, T; Perret, A; Montillier, P; di Bartolomeo, C; Barda, B; de Cid, R; Carreras, A; Galvan-Femenia, I; Blay, N; Farre, X; Sumoy, L; Cortes, B; Moreno, V; Kogevinas, M; Garcia-Aymerich, J; Castano-Vinyals, G; Dobano, C; Mercader, Jm; Mercader, J; Guindo-Martinez, M; Torrents, D; Gori, M; Picchiotti, N; Tanfoni, M; Renieri, A; Mari, F; Fallerini, C; Daga, S; Baldassarri, M; Fava, F; Frullanti, E; Valentino, F; Doddato, G; Giliberti, A; Bruttini, M; Croci, S; Meloni, I; Beligni, G; Di Sarno, L; Palmieri, M; Carriero, Ml; Alaverdian, D; Tita, R; Amitrano, S; Mencarelli, Ma; Lo Rizzo, C; Pinto, Am; Montagnani, F; Tumbarello, M; Furini, S; Benetti, E; Zguro, K; Capitani, K; Bianchi, F; Lista, M; Mondelli, Mu; Bruno, R; Castelli, F; Quiros-Roldan, E; Degli Antoni, M; Vaghi, M; Rusconi, S; Riva, A; Siano, M; Gabrieli, A; Fabbiani, M; Rossetti, B; Rancan, I; Bargagli, E; Bergantini, L; D'Alessandro, M; Cameli, P; Bennett, D; Franchi, F; Anedda, F; Marcantonio, S; Scolletta, S; Mazzei, Ma; Guerrini, S; Cantarini, L; Conticini, E; Frediani, B; Tacconi, D; Spertilli, C; Feri, M; Donati, A; Scala, R; Guidelli, L; Spargi, G; Corridi, M; Nencioni, C; Croci, L; Bandini, M; Piacentini, P; Desanctis, E; Cappelli, S; Caldarelli, Gp; Canaccini, A; Verzuri, A; Anemoli, V; Ognibene, A; Pancrazzi, A; Lorubbio, M; Monforte, Ad; Miraglia, Fg; Girardis, M; Busani, S; Venturelli, S; Antinori, A; Emiliozzi, A; Vergori, A; Francisci, D; Schiaroli, E; Tommasi, A; Paciosi, F; Scotton, Pg; Andretta, F; Panese, S; Scaggiante, R; Gatti, F; Della Monica, M; Piscopo, C; Capasso, M; Russo, R; Andolfo, I; Iolascon, A; Merla, G; Fiorentino, G; Castori, M; Carella, M; Aucella, F; Di Biagio, A; Bassetti, M; Masucci, L; Sanguinetti, M; Guarnaccia, A; Valente, S; De Vivo, O; Mandala, M; Giorli, A; Salerni, L; Zucchi, P; Parravicini, P; Giannattasio, F; Trotta, T; Coiro, G; Coviello, Da; Mussini, C; Tavecchia, L; Belli, Ma; Mancarella, S; Crotti, L; Parati, G; Rizzi, M; Maggiolo, F; Ripamonti, D; La Rovere, Mt; Sarzi-Braga, S; Bussotti, M; Ravaglia, S; Artuso, R; Andreucci, E; Perrella, A; Romani, D; Bergomi, P; Catena, E; Colombo, R; Vincenti, A; Ferri, C; Grassi, D; Pessina, G; Poscente, M; Di Pietro, M; Sabrina, R; Luchi, S; Dei, S; Sanarico, M; Gabbi, C; Ceri, S; Pinoli, P; Raimondi, F; Biscarini, F; Stella, A; Vecchia, M; Mantovani, S; Ludovisi, S; Zanella, I; Cossarizza, A; Parisi, Sg; Baratti, S; Squeo, Gm; Raggi, P; Marciano, C; Perna, R; Menatti, E; Lena, F; Martinelli, E; Bachetti, T; Suardi, C; Botta, G; Di Domenico, P; Barbieri, C; Tiseo, G; Falcone, M; Acquilini, D; Segala, Fv; Petrocelli, P; Baroni, S; van Heel, Da; Hunt, Ka; van Heel, D; Trembath, Rc; Huang, Qq; Martin, Hc; Mason, D; Wright, J; Trivedi, B; Finer, S; Akhtar, S; Anwar, M; Arciero, E; Ashraf, S; Breen, G; Chung, R; Curtis, Cj; Chowdhury, M; Colligan, G; Deloukas, P; Durham, C; Griffiths, C; Hurles, M; Hussain, S; Islam, K; Khan, A; Khan, A; Lavery, C; Lee, Sh; Lerner, R; Macarthur, D; Maclaughlin, B; Martin, H; Miah, S; Newman, B; Safa, N; Tahmasebi, F; Griffiths, Cj; Smith, Av; Boughton, Ap; Li, Kw; Lefaive, J; Annis, A; Zollner, S; Wang, Jm; Beck, A; Niavarani, A; Sharififard, B; Aliannejad, R; Naderpour, Z; Amirsavadkouhi, A; Tadi, Ha; Aleagha, Ae; Ahmadi, S; Moghaddam, Sbm; Adamsara, A; Saeedi, M; Abdollahi, H; Hosseini, A; Chariyavilaskul, P; Jantarabenjakul, W; Putchareon, O; Torvorapanit, P; Puthanakit, T; Hirankarn, N; Sodsai, P; Chamnanphon, M; Suttichet, Tb; Shotelersuk, V; Phokaew, C; Chetruengchai, W; Pongpanich, M; Suchartlikitwong, P; Nilaratanakul, V; Brumpton, B; Hveem, K; Asvold, Bo; Willer, C; Rogne, T; Solligard, E; Franke, L; Claringbould, A; Lopera, E; Warmerdam, R; van Blokland, I; Boezen, M; Deelen, P; Vonk, Jm; Lanting, P; Ori, Aps; Feng, Yca; Weiss, St; Karlson, Ew; Woolley, Ae; Smoller, Jw; Murphy, Sn; Meigs, Jb; Green, Rc; Perez, Ef; Ascolillo, S; Thompson, Rc; Beckmann, Nd; Sebra, Rp; Gettler, K; Salib, I; Zyndorf, M; Schadt, Ee; Collins, Bl; Levy, T; Buxbaum, Jd; Britvan, B; Keller, K; Tang, L; Peruggia, M; Hiester, Ll; Niblo, K; Aksentijevich, A; Labkowsky, A; Karp, A; Zlatopolsky, M; Jordan, Dm; Chaudhary, K; Cho, Jh; Itan, Y; Do, R; Nadkarni, Gn; Preuss, M; Loos, Rjf; Belbin, Gm; Abul-Husn, Ns; Kenny, Ee; Choi, S; O'Reilly, P; Charney, Aw; Huckins, Lm; Ferreira, Mar; Abecasis, Gr; Cantor, Mn; Kosmicki, Ja; Horowitz, Je; Baras, A; Yadav, A; Leader, Jb; Gass, Mc; Justice, Ae; Chittoor, G; Josyula, Ns; Carey, Dj; Mirshahi, T; Hottenga, Jj; Bartels, M; de Geus, Eejc; Nivard, Mmg; Verma, A; Ritchie, Md; Rader, D; Verma, Ss; Lucas, A; Bradford, Y; Li, B; Abedalthagafi, M; Al Harthi, F; Alsolm, E; Abu Safieh, L; Alowayn, Am; Alqubaishi, F; Al Mutairi, A; Albardis, H; Alotaibi, S; Fawzy, Ms; Alaamery, M; Massadeh, S; Almutairi, M; Alshareef, A; Suliman, Ba; Sawaji, M; Almalik, A; Alqahtani, S; Baraka, D; Hasanato, R; Mangul, S; Aljawini, N; Albesher, N; Alkwai, S; Alswailm, M; Almohammed, I; Arabi, Ym; Mahmoud, Es; Khattab, Ak; Halawani, Rt; Alahmadey, Zz; Albakri, Jk; Felemban, Wa; Al-Awdah, L; Alghamdi, J; Alzahrani, D; Aldhawi, N; Almalki, F; Albeladi, M; Albader, A; Aljohani, S; Al-Afghani, H; Barhoush, E; Alghamdi, B; Jung, J; Alrashed, M; Zeberg, H; Maricic, T; Frithiof, R; Hultstrom, M; Lipcsey, M; Tardif, N; Rooyackers, O; Grip, J; Helgeland, O; Harris, Jr; Magnus, P; Lee, Y; Trogstad, Lis; Mangino, M; Spector, Td; Emma, D; Moutsianas, L; Caulfield, Mj; Scott, Rh; Rendon, A; Kousathanas, A; Pasko, D; Walker, S; Stuckey, A; Odhams, Ca; Rhodes, D; Fowler, T; Chan, G; Arumugam, P; Wilson, Dj; Earle, Sg; Lin, Sk; Arning, N; Armstrong, J; Rudkin, Jk; Spencer, Cca; Koelling, N; Crook, Dw; Wyllie, Dh; O'Connell, Am; Band, G; Callier, S; Soranzo, N; Zhao, Jh; Danesh, J; Di Angelantonio, E; Butterworth, As; Sun, Yv; Huffman, Je; O'Donnell, Cj; Peloso, G; Cho, K; Gaziano, Jm; Ho, Yl; Tsao, P; Priest, J; Smieszek, Sp; Polymeropoulos, C; Polymeropoulos, V; Polymeropoulos, Mh; Przychodzen, Bp; Fernandez-Cadenas, I; Llucia-Carol, L; Cullell, N; Muino, E; Carcel-Marquez, J; Planas, Am; Perez-Tur, J; Dediego, Ml; Iglesias, Ll; Soriano, A; Rico, V; Aguero, D; Bedini, Jl; Domingo, C; Robles, V; Lozano, F; Ruiz-Jaen, F; Marquez, L; Gomez, J; Coto, E; Albaiceta, Gm; Garcia-Clemente, M; Dalmau, D; Arranz, Mj; Dietl, B; Serra-Llovich, A; Soler, P; Colobran, R; Martin-Nalda, A; Martinez, Ap; Bernardo, D; Fiz-Lopez, A; Arribas, E; De La Cal-Sabater, P; Rojo, S; Segura, T; Gonzalez-Villa, E; Serrano-Heras, G; Marti-Fabregas, J; Jimenez-Xarrie, E; Mimbrera, Ad; Masjuan, J; Garcia-Madrona, S; Dominguez-Mayoral, A; Villalonga, Jm; Menendez-Valladares, P; Chasman, Di; Sesso, Hd; Manson, Je; Buring, Je; Ridker, Pm; Franco, G; Lee, S; Biesecker, L -
A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males. 1-gen-2000 Meloni, Ilaria; Bruttini, Mirella; Longo, I; Mari, Francesca; Rizzolio, F; D'Adamo, P; Denvriendt, K; Fryns, Jp; Toniolo, D; Renieri, Alessandra -
A spectrum of LMX1B mutations in Nail-Patella syndrome: new point mutations, deletion, and evidence of mosaicism in unaffected parents 1-gen-2010 Marini, M.; Bocciardi, R.; Gimelli, S.; DI DUCA, M.; Divizia, M. T.; Baban, A.; Gaspar, H.; Mammi, I.; Garavelli, L.; Cerone, R.; Emma, F.; Bedeschi, M. F.; Tenconi, R.; Sensi, A.; Salmaggi, A.; Bengala, M.; Mari, F.; Colussi, G.; Szczaluba, K.; Antonarakis, S. E.; Seri, M.; Lerone, M.; Ravazzolo, R. -
A Unique Patient Presenting with Concomitant Klinefelter Syndrome, Alport Syndrome and Craniopharyngioma. 1-gen-2012 Rotondi, M.; Fallerini, C.; Pirali, B.; Longo, I.; Pasquali, D.; Rampino, T.; Chiovato, L.; Mari, Francesca; Renieri, Alessandra -
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population 1-gen-2020 Benetti, E.; Tita, R.; Spiga, O.; Ciolfi, A.; Birolo, G.; Bruselles, A.; Doddato, G.; Giliberti, A.; Marconi, C.; Musacchia, F.; Pippucci, T.; Torella, A.; Trezza, A.; Valentino, F.; Baldassarri, M.; Brusco, A.; Asselta, R.; Bruttini, M.; Furini, S.; Seri, M.; Nigro, V.; Matullo, G.; Tartaglia, M.; Mari, F.; Frullanti, E.; Fallerini, C.; Daga, S.; Croci, S.; Amitrano, S.; Fava, F.; Montagnani, F.; Di Sarno, L.; Tommasi, A.; Palmieri, M.; Emiliozzi, A.; Fabbiani, M.; Rossetti, B.; Zanelli, G.; Bergantini, L.; D’Alessandro, M.; Cameli, P.; Bennet, D.; Anedda, F.; Marcantonio, S.; Scolletta, S.; Franchi, F.; Mazzei, M. A.; Conticini, E.; Cantarini, L.; Frediani, B.; Tacconi, D.; Feri, M.; Scala, R.; Spargi, G.; Corridi, M.; Nencioni, C.; Caldarelli, G. P.; Spagnesi, M.; Piacentini, P.; Bandini, M.; Desanctis, E.; Canaccini, A.; Spertilli, C.; Donati, A.; Guidelli, L.; Croci, L.; Verzuri, A.; Anemoli, V.; Ognibene, A.; Vaghi, M.; D’Arminio Monforte, A.; Merlini, E.; Mondelli, M. U.; Mantovani, S.; Ludovisi, S.; Girardis, M.; Venturelli, S.; Sita, M.; Cossarizza, A.; Antinori, A.; Vergori, A.; Rusconi, S.; Siano, M.; Gabrieli, A.; Riva, A.; Francisci, D.; Schiaroli, E.; Scotton, P. G.; Andretta, F.; Panese, S.; Scaggiante, R.; Parisi, S. G.; Castelli, F.; Quiros-Roldan, M. E.; Magro, P.; Minardi, C.; Castelli, D.; Polesini, I.; Della Monica, M.; Piscopo, C.; Capasso, M.; Russo, R.; Andolfo, I.; Iolascon, A.; Carella, M.; Castori, M.; Merla, G.; Aucella, F.; Raggi, P.; Marciano, C.; Perna, R.; Bassetti, M.; Di Biagio, A.; Sanguinetti, M.; Masucci, L.; Gabbi, C.; Valente, S.; Guerrini, S.; Meloni, I.; Mencarelli, M. A.; Rizzo, C. L.; Bargagli, E.; Mandalà, M.; Giorli, A.; Salerni, L.; Fiorentino, G.; Zucchi, P.; Parravicini, P.; Menatti, E.; Baratti, S.; Trotta, T.; Giannattasio, F.; Coiro, G.; Lena, F.; Coviello, D. A.; Mussini, C.; Renieri, A.; Pinto, A. M.; GEN-COVID Multicenter, Study -
Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport Syndrome 1-gen-2017 Gross, Oliver; Kashtan, Clifford E; Rheault, Michelle N; Flinter, Frances; Savige, Judith; Miner, Jeffrey H; Torra, Roser; Ars, Elisabet; Deltas, Constantinos; Savva, Isavella; Perin, Laura; Renieri, Alessandra; Ariani, Francesca; Mari, Francesca; Baigent, Colin; Judge, Parminder; Knebelman, Bertrand; Heidet, Laurence; Lagas, Sharon; Blatt, Dave; Ding, Jie; Zhang, Yanqin; Gale, Daniel P; Prunotto, Marco; Xue, Yong; Schachter, Asher D; Morton, Lori C. G; Blem, Jacqui; Huang, Michael; Liu, Shiguang; Vallee, Sebastien; Renault, Daniel; Schifter, Julia; Skelding, Jules; Gear, Susie; Friede, Tim; Turner, A. Neil; Lennon, Rachel -
Advances in Alport syndrome diagnosis using next-generation sequencing 1-gen-2012 Artuso, R.; Fallerini, C.; Dosa, L.; Scionti, F.; Clementi, M.; Garosi, G.; Massella, L.; Epistolato, M. C.; Mancini, R.; Mari, F.; Longo, I.; Ariani, F.; Renieri, A.; Bruttini, M. -
Al-Awadi-Raas-Rothschild (limb/pelvis/uterus-hypoplasia/aplasia) syndrome and WNT7A mutations: genetic homogeneity and nosological delineation 1-gen-2010 Garavelli, L.; Wischmeijer, A.; Rosato, S.; Gelmini, C.; Reverberi, S.; Sassi, S.; Ferrari, A.; Mari, F.; Zabel, B.; Lausch, E.; Unger, S.; SUPERTI-FURGA, A. -
Alport syndrome and leiomyomatosis: the first deletion extending beyond COL4A6 intron 2 1-gen-2011 Uliana, V.; Marcocci, E.; Mucciolo, M.; Meloni, I.; Izzi, C.; Manno, C.; Bruttini, M.; Mari, F.; Scolari, F.; Renieri, A.; Salviati, L. -