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2. Comparative fluorescencein situ hybridization mapping of primate chromosomes withAlu polymerase chain reaction generated probes from human/rodent somatic cell hybrids
- Author
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Müller, S., Koehler, U., Wienberg, J., Marzella, R., Finelli, P., Antonacci, R., Rocchi, M., and Archidiacono, N.
- Published
- 1996
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3. Fourth meeting of the European Neurological Society 25–29 June 1994 Barcelona, Spain: Abstracts of Symposia and free communications
- Author
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Harms, L., Bock, A., JÄnisch, W., Valdueza, J., Weber, J., Link, I., De Keyser, J., Goossens, A., Wilczak, N., Vedeler, C., Bjorge, L., Uvestad, E., Conti, G., Williams, K., Ginsberg, L., Rafique, S., Rapoport, S. I., Gershfeld, N. L., De La Meilleure, G., Crevits, L., Faiss, J. H., Heye, N., Blanke, J., Sackmann, A., Kastrup, O., Doornbos, R., van der Worp, H. B., Kappelle, L. J., Bar, P. R., Davie, C. A., Barker, G. J., Brenton, D., Miller, D. H., Thompson, A. J., Block, F., Schwarz, M., Delodovici, L., Baruzzi, F., Bonaldi, G., Dario, A., Marra, A., Mercuri, A., Dworzak, F., Cavallari, P., Confalonieri, P., Zuffi, M., Antozzi, C., Cornelio, F., Baldissera, F., Chassande, B., Ameri, A., Eymard, B., Poisson, M., Vérier, A., Brunet, P., Congia, S., Murgia, P. L., Cannas, A., Borghero, G., Uselli, S., Mellino, G., Ferrai, R., Lampis, R., Massa, R., Muzzetto, B., Giannini, F., Rossi, S., Cioni, R., d'Aniello, C., Guarneri, A., Battistini, N., Ceriani, F., Del Santo, A., Poloni, M., Campo, J. F., Iglesias, F., Guitera, M. V., Farinas, C., Pascual, J., Leno, C., Berciano, J., Thorpe, I. W., Kendall, B. E., McDonald, W. I., Moulignier, A., Dromer, F., Baudrimont, M., Dupont, B., Gozlan, J., El Amrani, M., Petit, J. C., Roullet, E., Sterzi, R., Causaran, R., Protti, A., Riva, M., Erminio, F., Arena, O., Villa, F., Maccagnano, E., Miletta, M., Spinelli, F., Ben-Hur, T., Weidenfeldl, J., Rao, N. S., Chari, C. C., Laforet, P., Matheron, S., Adams, D., Chemouilli, Ph., Desi, M., Said, G., Davous, P., Lionnet, F., Pulik, M., Genet, P., Rozenberg, F., Cartier, L. M., Castillo, J. L., Cea, J. G., Villagra, R., de Saint Martin, L., Mahieux, F., Manifacier, M. J., Mattos, K., Queiros, C., Publio, L., Vinhas, V., PeÇanha-Martins, A. C., Melo, A., Liska, U., Zifko, U., Budka, H., Drlicek, M., Grisold, W., Kaufmann, R., Kaiser, R., Czygan, M., Gomes, I., Jones, N., Cunha, S., EmbiruÇu, E. Katiane, Vieira, V., Araujo, I., Alexandra, M., Ferreira, A., Goes, J., Chemouilli, P., Israel-Biet, Masson, H., Lacroix, C., Gasnault, J., Hildebrandt-Müller, B., Oschmann, P., Krack, P., Willems, W. R., Dorndorf, W., Freitas, V., Bittencourt, A., Fernandes, D., Nascimento, M. H., Severo, M., Moraes, D., Muller, M., Hasert, K., Merkelbach, S., Schimrigk, K., van Oosten, B. W., Lai, M., Polman, C. H., Bertelsmann, F. W., Hodgkinson, S., Cabre, P. H., Volpe, L., Smadja, D., Vernant, J. P., Villaroya, H., Violleau, K., Younes-Chennoufi, A. Ben, Baumann, N., Villanueva-Hemandez, P., Ballabriga, J., Basart, E., Arbizu, T. X., Perez-Serra, J., Vinuels, F., Giron, J. M., Castilla, J. M., Redondo, L., Izquierdo, G., Lauer, K., Henneberg, A., Bittmann, N., Link, D., Wollinsky, K. H., Mobner, R., Fassbender, K., Kuhnen, J., Schwartz, A., Hennerici, M., Miller, A., Lider, O., Abramsky, O., Weiner, H. L., Offner, H., Vanderbark, A. A., Paoino, E., Fainardi, E., Addonizio, M. C., Ruppi, P., Tola, M. R., Granieri, E., Carreras, M., Sazdovitch, V., Joutel, A., Verdier-taillefer, M. H., Heinzlef, O., Radder, C., Tournier-Lasserve, E., Brenner, R. E., Munro, P. M. G., Williams, S. C. R., Bell, J. D., Hawkins, C. P., Filippi, M., Campi, A., Dousset, V., Canal, N., Comi, G., Zhu, J., Weber, F., Retska, R., List, J., Zhang, L., Brock, M., Taphoorn, M. J. B., Heimans, J. J., van der Veen, E. A., Karim, A. B. M. F., Sarazin, M., Argentino, N., Delattre, J. Y., Derkinderen, P., Buchwald, B., Schroter, G., Serve, G., Franke, C. H., Conrad, B., Kitchen, N. D., Thomas, D. G. T., Forman, A. D., Ang, Kie- Kian, Price, R., Stephens, C., Salmaggi, A., Nermni, R., Silvani, A., Forno, M. G., Luksch, R., Boiardi, A., Grzelec, H., Fryze, C., Nowacki, P., Zdziarska, B., Sanson, M., Merel, P., Richard, S., Rouleau, G., Thomas, G., Olsen, N. K., Pfeiffer, P., Egund, N., Bentzen, S. M., Johannesen, L., Mondrup, K., Rose, C., Zyluk, B., Wondrusch, E., Berger, O., Fast, N., Jellinger, K., Lindner, K., Urman, A., Thibault, J. L., Duyckaerts, Ch., Strik, H., Muller, B., Richter, E., Krauseneck, P., Steinbrecher, A., Schabet, M., Hess, C., Bamberg, M., Dichgans, J., Counsell, C. E., McLeod, M., Grant, R., Creel, G. B., Claus, D., Sieber, E., Engelhardt, A., Rechlin, T., Thierauf, P., Neubauer, U., Peresson, M., Di Giovacchino, G., Romani, G. L., Di Silverio, F., Danek, A., Kuffner, M., Hoermann, R., Schopohl, J., Laska, M., Heye, B., Zangaladze, A. T., Valls-SoIè, J., Cammarota, A., Alvarez, R., Tolosa, E., Hallett, M., Ulbricht, D., Ganslandt, O., Kober, H., Vieth, J., Grummich, P., Pongratz, H., Brigel, C., Fahlbusch, R., Serra, F. P., Palma, V., Nolfe, G., Buscaino, G. A., Rothstein, T. L., Gibson J. M., Morrison P. M., Collins A. D., Eiselt, M., Wagnur, H., Zwiener, U., Schindler, T., Efendi, H., Ertekin, C., Erfas, M., Larsson, L. E., Sirin, H., AraÇ, N., Toygar, A., Demir, Y., Seddigh, S., Vogt, T. H., Hundemer, H., Visbeck, A., Pastena, L., Faralli, F., Mainardi, G., Gagliardi, R., Linden, D., Berlit, P., Lopez, O. L., Becker, J. T., Jungreis, C., Brenner, R., Rezek, D., Dekesky, S. T., Estol, C., Boller, F., Fernandez, J. M., Mederer, S., Batlle, J., Turon, A., Codina, A., Hitzenberger, P., Vila, N., Valls-SolÇ, J., Chamorro, A., Pouget, J., Schmied, A., Morin, D., Azulay, J. Ph., Vedel, J. P., Montalt, J., Escudero, J., Barona, R., Campos, A., Varli, K., Ertem, E., Uludag, B., Yagiz, A., Privorkin, Z., Steinvil, Y., Kott, E., Combarros, O., Sanchez-Pernaute, R., Orizaola, P., Mokrusch, Th., Kutluaye, E., Selcuki, D., Ertikin, C., Zettl, U., Gold, R., Harvey, G. K., Hartung, H. P., Toyka, K. V., Wokke, J. H. J., Oey, P. L., Ippel, P. F., Jansen, G. H., Franssen, H., Toyooka, K., Fujimura, H., Ueno, S., Yoshikawa, H., Yorifuji, S., Yanagihara, T., Talamon, C., Tzourio, C., Kiefer, R., Jung, S., Toyka, K., Ruolt, I., Tranchant, C., Mohr, M., Warter, J. M., Younger, D. S., Rosoklija, G., Hays, A. P., Kurita, R., Hasegawa, O., Matsumto, M., Komiyama, A., Nara, Y., Oueslati, S., Belal, S., Turki, I., Ben Hamida, C., Hentati, F., Ben Hamida, M., Kwiecinski, H., Krolicki, L., Domzal-Stryga, A., Dellemijn, P. L. I., van Deventer, P., van Moll, B., Drogendijk, T., Vecht, Ch. J., Nemni S., Amadio, Fazio, R., Galardin, G., Delodovici, M. L., Peghi, E., Monticelli, M. L., Sessa, A., Viguera, M. L., Palomar, M., Gamez, J., Cervera, C., Navarro, C., Serena, J., Duran, I., Fernandez, A. L., Comabella, M., Nos, C., Rio, J., Montalban, J., Navarro, X., Verdu, E., Darbra, S., Buti, M., Mrabet, A., Fredj, M., Gouider, R., Tounsi, H., Khalfallah, N., Haddad, A., Dbaiss, T., Ghnassia, R., Rouillet, E., Chedru, F., Porsche, H., Strenge, H., Li, S. W., Young, Y. P., Garcia, A. A., Baron, P., Scarpini, E., Bianchi, R., Conti, A., Livraghi, S., Rees, J. H., Gregson, N. A., Hughes, R. A. C., Sedano, M. J., Calleja, J., Canga, E., Bahou, Y., Biary, N., Al Deeb, S. M., Guern, E. L. E., Gugenheim, M., Tardieu, S., Aisonobe, T. M., Agid, Y., Bouche, P., Brice, A., Rautenstrauss, B., Nelis, E., Grehl, H., Van Broeckhoven, C., Pfeiffer, R. A., Liehr, T., Ganzmann, E., Gehring, C., Neundörfer, B., Geremia, L., Doronzo, R., Sacilotto, G., Sergi, P., Pastorino, G. C., Scarlato, G., Planté-Bordeneuve, V., Mantel, A., Baas, F., Moser, H., Antonini, A., Psylla, M., Günther, I., Vontobell, P., Beer, H. F., Leenders, K. L., Chaudhuri, K. Ray, Parker, J., Pye, I. F., Millac, P. A. H., Abbott, R. J., Sutter, M., Albani, C., de Rijk, M. C., Breteler, M. M. B., Graveland, G. A., van der Mechè, F. G. A., Hofman, A., Keipes, M., Hilger, Ch., Diederich, N., Metz, H., Hentges, F., Pollak, P., Benabid, A. L., Limousin, P., Hoffmann, D., Benazzouz, A., Perret, J., Laihinen, A., Rinne, J. O., Ruottinen, H., Nagren, K., Lehikoinen, P., Oikonen, V., Ruotsalainen, U., Rinne, U. K., Cocozza, S., Pizzuti, A., Cavalcanti, F., Monticelli, A., Pianese, L., Redolfi, E., Paiau, F., Di Donato, S., Pandolfo, M., Palau, F., Monros, E., De Michele, G., Smeyers, P., Lopez-ArLandis, J., Uilchez, J., Filla, A., Genis, D., Matilla, T., Volpini, V., Blanchs, M. I., Davalos, A., Molins, A., Rosell, J., Estivill, X., De Jonghe, P., Smeyers, G., Krols, L., Mercelis, R., Hazan, J., Weissenbach, J., Martin, J. J., Warner, T. A. T., Williams, L., Orb, A. S., Harding, A. E., Giunti, P., Sweeney, M. 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R., Rice, P. H., Zipp, F., Sotgiu, S., Weiss, E. H., Wekerle, H., Chalmers, R., Robertson, N., Compston, D. A. S., Martino, G., Clementi, E., Brambilla, E., Moiola, L., Martinelli, V., Colombo, B., Poggi, A., Rovaris, M., Grimaldi, L. M. E., Roth, M. P., Descoins, P., Ballivet, S., Ruidavets, J. B., Waubant, E., Nogueira, L., Cambon-Thomsen, A., Clanet, M., Leppert, D., Hauser, S., Lugaresi, A., Tartaro, A., D'aurelio, P., Befalo, L. L. O., Thomas, A., Malatesta, G., Gambi, D., Benedikz, J. E. G., Magnusson, H., Poser, C. M., Guomundsson, G., Bates, T. E., Davies, S. E. C., Clark, J. B., Landon, D. N., ùther, J. R., Rautenberg, W., Overgaard, K., Sereghy, T., Pedersen, H., Boysen, G., Diez-Tejedor, E., Carceller, F., Gutierrez, M., Lopez-Pajares, R., Roda, J. M., Chandra, B., Ricart, W., Gonzalez-Huix, F., Molina, A., Rundek, T., Demarin, V., De Reuck, J., Boon, P., Decoq, D., Strijckmans, K., Goethals, P., Lemahieu, I., Nibbio, A., Chabriat, H., Vahedi, K., Nagy, T., Verin, M., Mas, J. L., Julien, J., Ducrocq, X., Iba-Zizen, M. T., Cabanis, E. A., Bousser, M. G., Rolland, Y., Landgraf, F., Bompais, B., Lemaitre, M. H., Edan, G., Vorstrup, S., Knudsen, L., Olsen, K. Skovgaard, Videbaek, C., Schroeder, T., van Gijn, J., Jansen, H. M. L., Pruim, J., Paans, A. M. J., Willemsen, A. T. M., Hew, J. M., vd Vliet, A. M., Haaxma, R., Vaalburg, W., Minderhoud, J. M., Korf, J., Soudain, S. E., Ho, T. W., Mishu, B., Li, C. Y., Nachainkin, I., Gao, C. Y., Cornblath, D. R., Griffin, J. W., Asbury, A. K., Blaser, M. J., McKhann, G. M., Ho, T., Macko, C., Xue, P., Stadlan, E. M., Ramos-Alvarez, M., Valenciano, L., Visser, L. H., van der Meché, F. G. A., van Darn, P. A., Meulstee, J., Schmitz, P. I. M., Jacobs, B., Oomes, P. G., Kleyweg, R. P., Jacobs, B. C., Endtz, H. P., van Doorn, P. A., van der Mech, F. G. A., Van den Berg, L. H., Mollee, I., Logtenberg, T., Thomas, P. K., Plant, G., Baxter, P. J., Luis, R. Santiago, Matsumoto, M., Notermans, N. C., Wokke, J. H. J., Lokhorst, H. M., van der Graaf, Y., Jennekens, F. G. I., Azulay, J. P., Bille-Turg, F., Valentin, P., Farnarier, G. G., Pellissier, J. F., Serratrice, G., Quasthoff, S., Schneider, U., Grafe, P., Hilkens, P. H. E., Moll, J. W. B., van der Burg, M. E. L., Planting, A. S. T., van Putten, W. L. J., van den Bent, M. J., Birklein, F., Spitzer, A., Lang, E., Neundorfer, B., Diehl, R. R., Lücke, D., Smith, G. D. P., Mathias, C. J., Serra, J., Campera, M., Ochoa, J. L., Ray Chaudhuri, K., Pavitt, D., Alam, M., Handwerker, H. O., Bleasdale-Barr, K., Smith, G., Murray, N. M. F., Hawkins, P., Pepys, M., Gellera, C., DiDonato, S., Taroni, F., Uncini, A., Di Muzio, A., Servidei, S., Silvestri, G., Lodi, R., Iotti, S., Barbiroli, B., Morrissey, S. P., Borruat, F. X., Francis, D., Mosely, I., Hansen, H. C., Helmke, K., Kunze, K., Sadzot, B., Maquet, P., Lemaire, Plenevaux, Damhaut, Sommer, C., Myers, R. R., Berta, E., Mantegazza, R., Argov, Z., Shapira, Y., Wirguin, I., Beuuer, J., Franke, C., Roberts, M., Willison, H., Vincent, A., Newsom-Davis, J., Morrison, K. E., Damels, R., Francis, M., Campbell, L., Davies, K. E., Kohler, W., Bucka, C., Hertel, G., Kanovsky, P., Auer, D., Ackermann, H., Klose, U., Naegele, Th., Bien, S., Voigt, K., Fink, G. R., Stephan, K. M., Wise, R. J. S., Mullatti, N., Hewer, L., Frackowiak, R. S. J., Weiller, C. S., Rijnites, M., Jueptner, M., Bauermann, T., Krams, M., Diener, H. C., van Walderveen, M. A. A., Barkhof, F., Hommes, O. R., Valk, J., Willmer, J. P., Guzman, D. A., Passingham, R. E., Silbersweig, D., Ceballos-Baumann, A., Frith, C. D., Frackowiak, R., Lucas, C. H., Goullard, L., Marchau, M. J., Godefroy, O., Rondepierre, P. H., Chamas, E., Mounier-Vehier, F., Leys, D., Renato, J., Verdugo, M. S. C., Campero, M., Jose, L., Ochoa, D. S. C., Vivancos, F., Tejedor, E. Diez, Martinez, N., Roda, J., Frank, A., Barreiro, P., Satoh, Y., Nagata, K., Maeda, T., Hirata, Y., YalÇinerner, B., Ozkara, C., Ozer, F., Ozer, S., Hanoglu, L., Zunker, P., Pozo, J. L., Oberwittler, C., Schick, A., Buschmann, H. -Ch., Ringelstein, E. Bernd, Lara, M., Anzola, G. P., Magoni, M., Volta, G. Dalla, Tarasov, A., Feigin, V., Beaudry, M. G., Carrier, S., Chicoutimi, Henriques, I. L., Bogoussslavsky, J., van Melle, G., Mathieu, J., Perusse, L., Allard, P., Prevost, C., Cantin, L., Bouchard, J. M., De Braekeleer, M., Agbo, C., Neau, J. P., Tantot, A. M., Dary-Auriol, M., Ingrand, P., Gil, R., Baltadjiev, D., Zekin, D., Sabey, K., Gennaula, C. P., Pope, B. A., Caparros-Lefebvre, D., Girard-Buttaz, I., Pruvo, J. P., Petit, H., Hipola, D., Martin, M., Giménez-Roldan, S., Ivanez, V., Japaridze, G., Carrasco, J. L., Picomell, I., Herranz, J. L., Macias, J. A., Nieto, M., Noya, M., Oller, L., Kiteva-Trencevska, G., Delgado, M. R., Liu, H., Luengo, A., Parra, J., Colas, J., Fernandez, M. J., Manzanares, R., Kornhuber, M. E., Malashkhia, V., Orkodashili, G., Martinez, M., Bonaventura, I., Porta, G., Martinez, I., Fernandez, A., Aguilar, M., Masnou, P., Drouet, A., Dreyfus, M., Cartron, J., Morel-Kopp, M. C., Tchernia, G., Kaplan, C., Lammers, M. W., Hekster, Y. A., Keyser, A., Meinardi, H., Renier, W. O., Boon, P. A. J. M., Have, M. D., Kint, B., Cruz, P., Cadilha, A., Almeida, R., Goncalves, M., Pimenta, M., Ramos, L. M. P., Polder, T. W., Broere, C. A., Polman, L., Rother, I., Rother, M., Schlaug, G., Arnold, S., Holthausen, H., Wunderlich, G., Ebner, A., Luders, H., Witte, O. W., Seitz, R. J., Serra, L. L., Gallicchio, B., Rotondi, F., Wieshmann, U., Meierkord, H., Sabev, K., Di Carlo, V., Gueguen, B., Derouesné, Ch., Ancri, D., Bourdel, M. C., Guillou, S., Aliaga, R., Chornet, M. A., Rodrigo, A., Pascual, A. Pascual -Leone, Catala, M. D., Pascual-Leone, A., Benbadis, S. R., Dinner, D. S., Chelune, G. J., Lüders, H. O., Piedmonte, M. R., Blanco, T., Lopez, M. P., Romero, B., Deltoro, A., Pascual, A., Pascual, Leone, Bolgert, F., Josse, M. O., Tassan, P., Touze, E., Laplane, D., Godenberg, F., Brizioli, E., Del Gobbo, M., Pelliccioni, G., Scarpino, O., Durak, H., Damlacik, G., Tunca, Z., Fidaner, H., Yurekli, Y., Yemez, B., Kaygisiz, A., Anllo, E. A., Esperet, E., Giovagnoli, A. R., Casazza, M., Spreafico, R., Avanzini, G., Mascheroni, S., Vecchio, I., Tornali, C., Antonuzzo, A., Grasso, A. A., Bella, R., Pennisi, G., Raffaele, R., Broeckx, J., Schildermans, F., Hospers, W., Deberdt, W., Carney, J. M., Aksenova, M., Chen, M. S., Juncadella, M., Busquets, N., De la Fuente, I., Rodriguez, A., Rubio, F., Soler, R., Khati, C., Pillon, B., Deweer, B., Malapani, C., Malichard, N., Dubois, B., Rancurel, G., Lopez, D. L., Jungreia, G., DeKosky, S. T., Boiler, F., Weiller, C., Rijntjes, M., Mueller, S. P., Maguire, E. A., Burke, E. T., Staunton, H., Phillips, J., Rousseaux, M., Pena, J., Bertran, I., Santacruz, P., Lopez, R., Catafau, A., Lomena, F., Blesa, R., Rampello, L., Nicoletti, A., Cabaret, M., Lesoin, F., Steinling, M., Tournev, I., Maier-Hauff, K., Schroeder, M., Wolf, A., Cochin, J. P., Noel, I., Augustin, P., Auzou, P., Hannequin, D., Maria, V., Lopez-Bresnahan, Danielle, D. M., Antin-Ozerkis B. A., Bartels, E., Rodiek, S. O., Flugel, K. A., Campos, D. M., Salas-Puig, J., Del Rio, J. Sanhez, Vidal, J. A., Lahoz, C. H., Eraksoy, M., Barlas, O., Barlas, M., Bayindir, C., Ozcan, H., Birbamer, G., Gerstenbrand, F., Felber, S., Luz, G., Aichner, F., Seidel, G., Kaps, M., Hutzelmann, A., Gerriets, T., Kruggel, F., Martin, P. J., Gaunt, M. E., Abbot, R. J., Naylor, A. R., Meary, E., Dilouya, A., Meder, J. F., De Recondo, J., Lebtahi, R., Neff, K. W., Meairs, S., Viola, S., Matta, E., Aquilone, L., Rise, I. R., Authier, F. J., Kondo, H., Ghnassia, R. T., Degos, J. D., Gherardi, R. K., Bardoni A., Ciafaloni E., Comi G. P., Bresolin N., Robotti M., Moggio M., Rigoletto C., Roses A., Scarlato G., Castelli, E., Turconi, A., Bresolin, N., Perani, D., Felisari, G., Chariot, P., de Pinieux, G., Astier, A., Jacotot, B., Gherardi, R., Fischer-Gagnepain, V., Louboutin, J. P., Crespo, F., Florea-Strat, A., Fromont, G., Sabourin, J. -C., Gonano, E. -F., Moroni, I., Prelle, A., Iannaccone, S., Quattrini, A., deRino, F., Sessa, M., Golzi, V., Smirne, S., Nemni, R., Turpin, J. C., Lucotte, G., Jacobs, S. C. J. M., Willems, P. W. A., Bootsma, A. L., Lasa, A., Calaf, M., Baiget, M., Gallano, B., Fichter-Gagnepain, V., Mazzucchelli, F., D'Angelo, M. G., Velicogna, M., Bet, L., Comi, G. P., Bordoni, A., Gonano, E. F., Bazzi, P., Rapuzzi, S., Moggio, M., Fagiolari, G., Ciscato, P., Messina, A., Battistel, A., Ryniewicz, B., Sangla, I., Desnuelle, C., Paquis, V., Cozzone, P. J., Bendahan, D., Sturenburg, H. 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O., Joussen, K., Sonka, K., Chave, B., Confort-Gouny, S., Houallah, T., Neundoerfer, B., Tex, S., Seeber, C., Mokrusch, T., Urdiain, T. X. Arbizu, Yelamos, S. M., Villanueva, P., Serra, J. Peres, Braghi, S., Bonifacio, E., Natali-Sora, M. G., Debbink, Y. N., Marra, T. R., Mossman, S., Timmings, P., Seitz-Dertinger, S., Solbach, W., Mainz, A., Manfredini, E., Calabrese, E., Allaria, S., Mariani, C., Sinaki, M., Lynn, S., Westerlind, K., Ossege, L. M., Voss, B., Wiethege, Th., Sindern, E., Malin, J. p., Le Doze, F., Chapon, F., de la Sayette, V., Schaeffer, S., Dary, M., Lechevalier, B., Viader, F., de Pommery, J., Weill-Fulazza, J., Menetrey, M., Lazzarino, L. G., Nicolai, A., Nappo, A., Blin, J., Mazetti, P., Mazoyer, B., Ayed, S. Ben, Rivaud, S., Vidailhet, M., Pierrot-Deseilligny, C., Chase, T., Jordan, K. G., Gergaud, J. M., Breux, J. P., Roblot, P., Grollier, G., Giraudon, B. Becq, Dobato, J. L., Gilabert, Y. Perez, Blanco, J. L. 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L., Constantin, C., Cassatella, M. A., Langdon, D. W., Webb, S., Gasparini, P., Zeviani, A., Kidd, D., Mammi, S., Cahalon, L., Hershkoviz, R., Lahat, N., Wallach, D., Annunziata, P., Martino, T., Maimone, D., Guazzi, G. C., Porrini, A. M., Dell'Arciprete, L., Rothwell, P. M., Stewart, R. R. C., Cull, R. E., Willmes, K., Poeck, K., Russell, D., Braekken, S. K., Brucher, R., Svennevig, J., Hermesl, M., Bruckmann, H., Biraben, A., Sliwka, U., Meyer, B., Schondube, F., Noth, J., Lavenu, I., Lammers, C., Waldecker, B., Haberbosch, W., Stam, J., Schneider, R., Gautier, J. C., Berlit, T. P., Fauser, B., Kuhne, D., Geraud, G., Danielli, A., Larrue, V., Bes, A., Timmerman, E., Bono, F., Bruni, A. C., Valalentino, P., Montesi, M. P., Talerico, G., Zappia, M., Sabatelli, M., Quattrone, A., Pareyson, D., Lorenzetti, D., Sghirlanzoni, A., Castellotti, B., Lupski, J. R., Archidiacono, N., Antonacci, R., Marzella, R., Rocchi, M., Samuel, D., Goulon-Goeau, C., Costa, P. P., Bismuth, H., Said, G., De Jongh P., Lofgren A., Timmerman V., Vance J. M., Van Broeckhoven C., Martin J. -J., Martinez, A. Cruz, Bort, S., Arpa, J., Misra, P., King, R. H. M., Badhia, K., Anderson, M., Caballo, A., Vichez, J., Gabriel, J. M., Erne, B., Miescher, G. C., Ulrich, J., Vital, A., Vital, C., Steck, A., Petry, K., Labatut, I., Hilmi, S., Ellie, E., Ferrini-Strambi, L., Zucconl, M., Marchettini, P., Palazzi, S., Oehlschlager, M., Pepinsky, R. B., Gemignani, F., Marbini, A., Pavesi, G., Di Vittorio, S., Manganelli, P., Mancia, D., Vermersh, P., Roche, J., Durocher, A. M., Dewailly, Ph., Dettmers, C., Fink, G., Lemon, R., Stephan, K., Passingham, D., Weder, B., Knorr, U., Huang, Y., Butterfield, D. A., Peris, M. L., Peiro, C., Pascual, A. Pascual-Leone, Bottini, G., Folnegovic-Smalc, V., Knezevic, S., Bokonjic, R., Ersmark, B., Torres, M. Gonzalez, Guiraud-Chaumeil, B., Haugaard, K., Jovicic, A., Chr, Lang, Levic, Z., Parra, C. Martinez, Ochoa, J. 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M., Pleiffer, G., Kunre, K., Dieterich, M., Brandt, Th., Guarino, M., Stracciari, A., Pazzaglia, P., D'Alessandro, R., Santilli, I., Donato, M., The European Velnacrine Study Group, The Dutch Guillain-Barré study group, The COP-1 Multicenter Clinical and Research Group Study, and European Study Group
- Published
- 1994
- Full Text
- View/download PDF
4. Ultrastructural studies of spermatozoa from infertile males with Robertsonian translocations and 18, X, Y aneuploidies
- Author
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Baccetti, B., Collodel, G., Marzella, R., Moretti, E., Piomboni, P., Scapigliati, G., and Serafini, F.
- Published
- 2005
5. 10, 15 reciprocal translocation in an infertile man: ultrastructural and fluorescence in-situ hybridization sperm study: Case report
- Author
-
Baccetti, B., Bruni, E., Collodel, G., Gambera, L., Moretti, E., Marzella, R., and Piomboni, P.
- Published
- 2003
6. Report scientifico Finale REPAIR
- Author
-
Guarino V., Raucci MG, and Marzella R.
- Subjects
Ingegneria dei tessuti ,electrospinning ,sol gel - Abstract
Report finale dell'attività scientifica svolta nell'ambito del progetto PON Repair
- Published
- 2015
7. Report Scientifico Progetto Repair 42 mesi
- Author
-
Guarino v., Raucci MG, and Marzella R
- Subjects
Ingegneria dei tessuti ,electrospinning ,sol gel - Abstract
Attività scientifica svolta nell'ambito del VI SAL del progetto
- Published
- 2015
8. Alpha satellite organization in chimpanzee (Pan troglodytes, PTR)
- Author
-
Viggiano, L., Spalluto, C., Piccininni, S., Anelli, L., Archidiacono, N., Marzella, R., and Rocchi, M.
- Subjects
Chimpanzees -- Genetic aspects ,Animal genetics -- Research ,Biological sciences - Published
- 2001
9. Alpha-Satellite Organization In Great Apes
- Author
-
Rocchi, M., Spalluto, C., Piccininni, S., Anelli, L., Archidiacono, N., Marzella, R., and Viggiano, L.
- Subjects
Apes -- Genetic aspects ,Human genetics -- Research ,Evolution -- Research ,Biological sciences - Published
- 2001
10. A panel of somatic cell hybrids specific for the Olive baboon (Papio anubis, Old World Monkeys)
- Author
-
Marzella, R., Miolla, V., Chiarappa, P., Carrozzo, C., Rocchi, M., and Archidiacono, N.
- Subjects
Human genetics -- Research ,Baboons -- Genetic aspects ,Somatic hybrids -- Research ,Biological sciences - Published
- 2001
11. Project Final Report - 'Novel biofunctional highly porous polymer scaffolds and techniques controlling angiogenesis for the regeneration and repair of the degenerated intervertebral disc' (Disc Regeneration) - Grant Agreement No. NMP3-LA-2008-213904
- Author
-
Ambrosio L., Bonetti M., Gloria A., Marzella R., and Montanino M.
- Published
- 2014
12. Scientific Activity Report REPAIR (PON01_02342) V SAL - 30 months
- Author
-
Guarino V. Marzella R.
- Published
- 2014
13. 7 th 6 Month Report - 'Novel biofunctional highly porous polymer scaffolds and techniques controlling angiogenesis for the regeneration and repair of the degenerated intervertebral disc' (Disc Regeneration) - Grant Agreement No. NMP3-LA-2008-213904
- Author
-
Gloria A., Marzella R., Bonetti M., and Ambrosio L.
- Published
- 2013
14. 5 th 6 Month Report - 'Novel biofunctional highly porous polymer scaffolds and techniques controlling angiogenesis for the regeneration and repair of the degenerated intervertebral disc' (Disc Regeneration) - Grant Agreement No. NMP3-LA-2008-213904
- Author
-
Gloria A., De Santis R., Russo T., Bonetti M., Marzella R., and Ambrosio L.
- Published
- 2012
15. Deliverable 8: Report on injectability data on substitutes.Novel biofunctional highly porous polymer scaffolds and techniques controlling angiogenesis for the regeneration and repair of the degenerated intervertebral disc (Disc Regeneration)
- Author
-
Gloria A., De Santis R., Marzella R., and Ambrosio L.
- Published
- 2010
16. 'Mutations of SURF-1 in Leigh Disease Associated with Cytochrome c Oxidase Deficiency'
- Author
-
TIRANTI V, HOERTNAGEL K, CARROZZO R, GALIMBERTI C, MUNARO M, GRANATIERO M, ZELANTE L, MARZELLA R, ROCCHI M, BAYONA BAFALUY MP, ENRIQUEZ JA, GASPARINI, PAOLO, Tiranti, V, Hoertnagel, K, Carrozzo, R, Galimberti, C, Munaro, M, Granatiero, M, Zelante, L, Gasparini, Paolo, Marzella, R, Rocchi, M, BAYONA BAFALUY, Mp, and Enriquez, Ja
- Published
- 1998
17. Ultrastructural and FISH study on spermatozoa of infertile carriers of chromosomal rearrangement
- Author
-
Piomboni, P., Bruni, E., Capitani, S., Collodel, G., Gambera, L., Manca, D., Moretti, E., Marzella, R., Scapigliati, G., Serafini, F., and Baccetti, B.
- Published
- 2003
18. Interleukin-1 inducible genes in endothelial cells: cloning of a new gene related to C-reactive protein and serum amyloid P component
- Author
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Breviario, F, D'Aniello, Em, Golay, J, Peri, G, Bottazzi, B, Bairoch, A, Saccone, Salvatore, Marzella, R, Predazzi, V, Rocchi, M, DELLA VALLE, G, Dejana, E, and Mantovani, A. AND INTRONA M.
- Published
- 1992
19. Panels of somatic cell hybrids specific for chimpanzee, gorilla, orangutan, and baboon
- Author
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Marzella, R., primary, Carrozzo, C., additional, Chiarappa, P., additional, Miolla, V., additional, and Rocchi, M., additional
- Published
- 2004
- Full Text
- View/download PDF
20. Identification of the human BetaA2 crystallin gene (CRYBA2): localization of the gene on human chromosome 2 and of the homologous gene on mouse chromosome 1
- Author
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Hulsebos, T.J.M., Cerosaletti, K.M., Fournier, R.E.K., Sinke, R.J., Rocchi, M., Marzella, R., Jenkins, N.A., Gilbert, D.J., Copeland, N.G., Hulsebos, T.J.M., Cerosaletti, K.M., Fournier, R.E.K., Sinke, R.J., Rocchi, M., Marzella, R., Jenkins, N.A., Gilbert, D.J., and Copeland, N.G.
- Abstract
Item does not contain fulltext
- Published
- 1995
21. Assignment of the human erythrocyte acylphosphatase gene (ACYP1) to chromosome band 14q24.3
- Author
-
Fiaschi, T., primary, Marzella, R., additional, Veggi, D., additional, Marzocchini, R., additional, Raugei, G., additional, Rocchi, M., additional, and Ramponi, G., additional
- Published
- 1998
- Full Text
- View/download PDF
22. Assignment of the carnitine/acylcarnitine translocase gene (CACT) to human chromosome band 3p21.31 by in situ hybridization
- Author
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Viggiano, L., primary, lacobazzi, V., additional, Marzella, R., additional, Cassano, C., additional, Rocchi, M., additional, and Palmieri, F., additional
- Published
- 1997
- Full Text
- View/download PDF
23. A panel of radiation hybrids and YAC clones specific for human chromosome 5
- Author
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Marzella, R., primary, Viggiano, L., additional, Ricco, AS., additional, Tanzariello, A., additional, Fratello, A., additional, Archidiacono, N., additional, and Rocchi, M., additional
- Published
- 1997
- Full Text
- View/download PDF
24. Map integration at human chromosome 10: molecular and cytogenetic analysis of a chromosome-specific somatic cell hybrid panel and genomic clones, based on a well-supported genetic map
- Author
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Marzella, R., primary, Kokkinaki, M.A., additional, Kapsetaki, M., additional, Ricco, A., additional, Argyrokastritis, A., additional, Kamakari, S., additional, Sarafidou, T., additional, Archidiacono, N., additional, Roussou, A., additional, Pasparaki, A., additional, Rocchi, M., additional, and Moschonas, N.K., additional
- Published
- 1997
- Full Text
- View/download PDF
25. Tools for molecular cytogenetics
- Author
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Marzella, R., primary, Storlazzi, T., additional, Ricco, A., additional, Lonoce, A., additional, Viggiano, L., additional, Archidiacono, N., additional, and Rocchi, M., additional
- Published
- 1996
- Full Text
- View/download PDF
26. Identification of the Human βA2 Crystallin Gene (CRYBA2): Localization of the Gene on Human Chromosome 2 and of the Homologous Gene on Mouse Chromosome 1
- Author
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Hulsebos, T.J.M., primary, Cerosaletti, K.M., additional, Fournier, R.E.K., additional, Sinke, R.J., additional, Rocchi, M., additional, Marzella, R., additional, Jenkins, N.A., additional, Gilbert, D.J., additional, and Copeland, N.G., additional
- Published
- 1995
- Full Text
- View/download PDF
27. A panel of subchromosomal painting libraries representing over 300 regions of the human genome
- Author
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Antonacci, R., primary, Marzella, R., additional, Finelli, P., additional, Lonoce, A., additional, Forabosco, A., additional, Archidiacono, N., additional, and Rocchi, M., additional
- Published
- 1995
- Full Text
- View/download PDF
28. Hereditary motor and sensory neuropathy with calf hypertrophy is associated with 17p 11.2 duplication
- Author
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Uncini, A., primary, Di Muzio, A., additional, Chiavaroli, F., additional, Gambi, D., additional, Sabatelli, M., additional, Archidiacono, N., additional, Antonacci, R., additional, Marzella, R., additional, and Rocchi, M., additional
- Published
- 1994
- Full Text
- View/download PDF
29. Cloning and Comparative Mapping of a Human Chromosome 4-Specific Alpha Satellite DNA Sequence
- Author
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D'Aiuto, L., primary, Antonacci, R., additional, Marzella, R., additional, Archidiacono, N., additional, and Rocchi, M., additional
- Published
- 1993
- Full Text
- View/download PDF
30. Interleukin-1-inducible genes in endothelial cells. Cloning of a new gene related to C-reactive protein and serum amyloid P component.
- Author
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Breviario, F, primary, d'Aniello, E.M., additional, Golay, J, additional, Peri, G, additional, Bottazzi, B, additional, Bairoch, A, additional, Saccone, S, additional, Marzella, R, additional, Predazzi, V, additional, and Rocchi, M, additional
- Published
- 1992
- Full Text
- View/download PDF
31. Panels of somatic cell hybrids specific for chimpanzee, gorilla, orangutan, and baboon.
- Author
-
Marzella, R., Carrozzo, C., Chiarappa, P., Miolla, V., and Rocchi, M.
- Subjects
- *
SOMATIC cells , *CHIMPANZEES , *GORILLA (Genus) , *ORANGUTANS , *BABOONS , *CELL fusion , *CHROMOSOMES - Abstract
The generation of panels of somatic cell hybrids specific for chimpanzee, gorilla, orangutan, and olive baboon is reported. The chromosome content of each hybrid clone was characterized using reverse painting on human normal metaphases and by the use of appropriate sequence tag sites (STSs), one for each chromosome arm. These resources can be advantageously exploited in the characterization of chromosome architecture of different primate species, with special reference to the discrimination of inter- and intra-chromosomal arrangement of segmental duplications. Copyright © 2005 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]
- Published
- 2005
- Full Text
- View/download PDF
32. Sequences flanking the centromere ofhuman chromosome 10 are a complex patchworkof arm-specific sequences, stable duplications and unstable sequences with homologies to telomeric and other centromeric locations.
- Author
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Jackson, M. S., Rocchi, M., Thompson, G., Hearn, T., Crosier, M., Guy, J., Kirk, D., Mulligan, L., Ricco, A., Piccininni, S., Marzella, R., Viggiano, L., and Archidiacono, N.
- Abstract
Little is known about sequence organization close to human centromeres, despite empirical and theoretical data which suggest that it may be unusual. Here we present maps which physically define large sequence duplications flanking the centromeric satellites of human chromosome 10, together with a fluorescence in situ hybridization (FISH) analysis of pericentromeric sequence stability. Our results indicate that the duplications on each chromosome arm are organized into two blocks of ∼250 and 150 kb separated by ∼300 kb of non-duplicated DNA. The larger proximal blocks, containing ZNF11A, ZNF33A and ZNF37A (10p11) and ZNF11B, ZNF33B and ZNF37B(10q11), are inverted. However, the smaller distal blocks, containing D10S141A (10p11) and D10S141B (10q11), are not. A primate FISH analysis indicates that these loci were duplicated before the divergence of orang-utans from other Great Apes, that a cytogenetically cryptic pericentric inversion may have been involved in the formation of the flanking duplications and that they have undergone further rearrangement in other primate species. More surprising is the fact that sequences across the entire pericentromeric region appear to have undergone unprecedented levels of duplication, transposition, inversion and either deletion or sequence divergence in all primate species analysed. Extrapolating our data to the whole genome suggests that a minimum of 50 Mb of DNA in centromere-proximal regions is subject to an elevated level of mechanistically diverse sequence rearrangements compared with the bulk of genomic DNA. [ABSTRACT FROM AUTHOR]
- Published
- 1999
- Full Text
- View/download PDF
33. Map integration at human chromosome 10: molecular and cytogenetic analysis of a chromosome-specific somatic cell hybrid panel and genomic clones, based on a well-supported genetic map.
- Author
-
Marzella, R., Kokkinaki, M.A., Kapsetaki, M., Ricco, A., Argyrokastritis, A., Kamakari, S., Sarafidou, T., Archidiacono, N., Roussou, A., Pasparaki, A., Rocchi, M., and Moschonas, N.K.
- Published
- 1997
- Full Text
- View/download PDF
34. A panel of radiation hybrids and YAC clones specific for human chromosome 5.
- Author
-
Marzella, R., Viggiano, L., Ricco, AS., Tanzariello, A., Fratello, A., Archidiacono, N., and Rocchi, M.
- Published
- 1997
- Full Text
- View/download PDF
35. Differential electrophysiological features of neuropathies associated with 17p11.2 deletion and duplication.
- Author
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Uncini, Antonio, Di Guglielmo, Giovanni, Di Muzio, Antonio, Gambi, Domenico, Sabatelli, Mario, Mignogna, Teresa, Tonali, Pietro, Marzella, Rosalia, Finelli, Palma, Archidiacono, Nicoletta, Rocchi, Mariano, Uncini, A, Di Guglielmo, G, Di Muzio, A, Gambi, D, Sabatelli, M, Mignogna, T, Tonali, P, Marzella, R, and Finelli, P
- Published
- 1995
- Full Text
- View/download PDF
36. A panel of subchromosomal painting libraries representing over 300 regions of the human genome.
- Author
-
Antonacci, R., Marzella, R., Finelli, P., Lonoce, A., Forabosco, A., Archidiacono, N., and Rocchi, M.
- Published
- 1995
- Full Text
- View/download PDF
37. Hereditary motor and sensory neuropathy with calf hypertrophy is associated with 17p11.2 duplication.
- Author
-
Uncini, A., Di Muzio, A., Chiavaroli, F., Gambi, D., Sabatelli, M., Archidiacono, N., Antonacci, R., Marzella, R., and Rocchi, M.
- Published
- 1994
- Full Text
- View/download PDF
38. Leigh syndrome transmitted by uniparental disomy of chromosome 9
- Author
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Valeria Tiranti, Lamantea E, Uziel G, Zeviani M, Gasparini P, Marzella R, Rocchi M, Fried M, Tiranti, V, Lamantea, F, Uziel, G, Zeviani, M, Gasparini, Paolo, Marzella, R, Rocchi, M, and Fried, M.
39. Evolution of chromosome Y in primates
- Author
-
Rocchi M, Clelia Tiziana Storlazzi, Marzella R, As, Ricco, and Archidiacono N
- Subjects
Evolution, Molecular ,Male ,Primates ,Macaca fascicularis ,Gorilla gorilla ,Pan troglodytes ,Pongo pygmaeus ,Y Chromosome ,Animals ,Humans ,In Situ Hybridization, Fluorescence ,Papio
40. Preparation of human partial chromosome paints from somatic cell hybrids
- Author
-
Archidiacono, N., Marzella, R., Spalluto, C., Pennacchia, M., Luigi Viggiano, and Rocchi, M.
41. Leigh syndrome transmitted by uniparental disomy of chromosome 9
- Author
-
Valeria Tiranti, Lamantea, E., Uziel, G., Zeviani, M., Gasparini, P., Marzella, R., Rocchi, M., and Fried, M.
- Subjects
Electron Transport Complex IV ,Humans ,Karyotyping ,Leigh Disease ,Membrane Proteins ,Mitochondrial Proteins ,Mutation ,Pedigree ,Proteins ,Aneuploidy ,Chromosomes, Human, Pair 9 ,Chromosomes ,Letters to the Editor ,Human ,Pair 9
42. A novel chromosomal translocation t(4; 14)(p16.3;q32) in multiple myeloma involves the fibroblast growth-factor receptor 3 gene
- Author
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Richelda, R., Ronchetti, D., Luca Baldini, Cro, L., Viggiano, L., Marzella, R., Rocchi, M., Otsuki, T., Lombardi, L., Maiolo, A. T., and Neri, A.
- Subjects
Chromosomes, Human, Pair 14 ,Base Sequence ,Molecular Sequence Data ,Chromosome Mapping ,Humans ,Chromosomes, Human, Pair 4 ,Cloning, Molecular ,Multiple Myeloma ,Receptors, Fibroblast Growth Factor ,In Situ Hybridization, Fluorescence ,Translocation, Genetic - Abstract
Chromosomal translocations involving the immunoglobulin heavy chain (IGH) locus at chromosome 14q32 represent a common mechanism of oncogene activation in lymphoid malignancies. In multiple myeloma (MM), the most consistent chromosomal abnormality is the 14q+ marker, which originates in one third of cases through a t(11; 14)(q13; q32) chromosomal translocation; in the remaining cases, the identity of the partner chromosomes has not been well established. We used a Southern blot approach based on the linkage analysis of the joining (J) and the constant (C) mu, alpha, and gamma regions to detect cases bearing IGH switch-mediated chromosomal translocations. We evaluated DNA of 88 nonkaryotyped patients with MM (78 cases) or plasma cell leukemia (PCL) (10 cases) and found the presence of "illegitimate" rearranged IGH fragments (no comigration between the J and C regions) in 21 cases. To confirm this analysis, we cloned the illegitimate rearranged fragments from three samples, and the molecular and fluorescent in situ hybridization (FISH) analyses indicated the presence of chromosomal translocations juxtaposing a switch IGH region to sequences from chromosomes 11q13 (one PCL case) or 4p16.3 (two MM cases). Interestingly, the breakpoints on 4p16.3 occurred about 14 kb apart in a genomic region located approximately 50 kb centromeric to the fibroblast growth-factor receptor 3 (FGFR3) gene. Moreover, Southern blot analysis using 4p16.3 genomic probes detected a rearrangement in an additional MM tumor. FISH analysis of the MM-derived KMS-11 cell line, reported to be associated with a t(4; 14)(p16.3; q32), showed that the FGFR3 gene was translocated on 14q32. High levels of FGFR3 mRNA expression were observed in the cloned MM tumors and KMS-11 cell line, but not in the cases that were apparently negative for this lesion. Furthermore, a point mutation at codon 373 in the transmembrane domain of the FGFR3 gene resulting in an amino acid substitution (Tyr --Cys) was detected in the KMS-11 cell line. These findings indicate that the t(4; 14)(p16.3; q32) represents a novel, recurrent chromosomal translocation in MM, and suggest that the FGFR3 gene may be the target of this abnormality and thus contribute to tumorigenesis in MM.
43. Assignment of the human erythrocyte acylphosphatase gene (ACYP1) to chromosome band 14q24.3.
- Author
-
Fiaschi, T., Marzella, R., Veggi, D., Marzocchini, R., Raugei, G., Rocchi, M., and Ramponi, G.
- Subjects
- *
PHOSPHATASES , *ERYTHROCYTES , *GENE mapping , *CELL fusion , *ISOENZYMES , *SOMATIC hybrids - Abstract
This article reports on the assignment of human erythrocyte acylphosphatase gene (ACYP1) to chromosome band 14q24.3. Acylphosphatase is a small cytosolic enzyme, widely distributed in animal tissues. Two isoenxymatic forms are known as "muscle type" and "common type" (CT) acylphosphatase, respectively. The assignment of the human CT acylphosphatase gene to chromosome 14 was achieved by Southern blot experiments on a panel of human-hamster somatic cell hybrids. The ACYP1 gene was localized to human chromosome 14 on the basis of somatic cell hybrids; 14q24.3 using fluorescence in situ hybridization.
- Published
- 1998
- Full Text
- View/download PDF
44. Assignment of the carnitine/acylcarnitine translocase gene (CACT) to human chromosome band 3p21.31 by in situ hybridization.
- Author
-
Viggiano, L., lacobazzi, V., Marzella, R., Cassano, C., Rocchi, M., and Palmieri, F.
- Published
- 1997
- Full Text
- View/download PDF
45. Leigh syndrome transmitted by uniparental disomy of chromosome 9
- Author
-
Tiranti, V., Lamantea, E., Uziel, G., Zeviani, M., Gasparini, P., Marzella, R., Rocchi, M., and Fried, M.
- Published
- 1999
46. Disruption of the IQSEC2 transcript in a female with X;autosome translocation t(X;20)(p11.2;q11.2) and a phenotype resembling X-linked infantile spasms (ISSX) syndrome
- Author
-
David Chitayat, Ivana Peluso, Manuela Morleo, Brunella Franco, R. Marzella, Daniela Iaconis, Alessandra Renieri, Francesca Mari, M., Morleo, D., Iaconi, D., Chitayat, I., Peluso, R., Marzella, A., Renieri, F., Mari, Franco, Brunella, Morleo, M, Iaconis, D, Chitayat, D, Peluso, I, Marzella, R, Renieri, A, Mari, F, and Franco, B
- Subjects
Genetics ,Cancer Research ,Candidate gene ,Oncogene ,Chromosomal translocation ,GTPase ,Biology ,Biochemistry ,Phenotype ,Hypsarrhythmia ,Oncology ,medicine ,Molecular Medicine ,Small GTPase ,medicine.symptom ,Molecular Biology ,Gene - Abstract
We report on a female patient with severe infantile spasms, profound global developmental arrest, hypsarrhythmia and severe mental retardation, associated with a de novo apparently balanced X;autosome translocation. Her neurological phenotype resembles that of X-linked infantile spasms (ISSX). Molecular study showed that the translocation disrupts a transcript involved in GTPases signalling, IQSEC2, mapped to the Xp11.22 region. Several genes involved in intracellular signalling pathways via Ras-homologous small GTPase have been implicated in X-linked neurological disorders. Expression studies revealed that the murine homolog of this transcript, Iqsec2, is highly expressed in the nervous system from the early stages of development. These data suggest that IQSEC2 could be considered a candidate gene for X-linked neurological disorders.
47. Negotiating Closed Doors and Constraining Deadlines: The Potential of Visual Ethnography to Effectually Explore Private and Public Spaces of Motherhood and Parenting.
- Author
-
Mannay D, Creaghan J, Gallagher D, Marzella R, Mason S, Morgan M, and Grant A
- Abstract
Pregnancy and motherhood are increasingly subjected to surveillance by medical professionals, the media, and the general public, and discourses of ideal parenting are propagated alongside an admonishment of the perceived "failing" maternal subject. However, despite this scrutiny, the mundane activities of parenting are often impervious to ethnographic forms of inquiry. Challenges for ethnographic researchers include the restrictions of becoming immersed in the private space of the home where parenting occurs and an institutional structure that discourages exploratory and long-term fieldwork. This paper draws on four studies, involving thirty-four participants, that explored their journeys into the space of parenthood and their everyday experiences. The studies all employed forms of visual ethnography, including artifacts, photo elicitation, timelines, collage, and sandboxing. The paper argues that visual methodologies can enable access to unseen aspects of parenting and engender forms of temporal extension, which can help researchers to disrupt the restrictions of tightly time bounded projects., Competing Interests: Declaration of Conflicting Interests: The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.
- Published
- 2018
- Full Text
- View/download PDF
48. Disruption of the IQSEC2 transcript in a female with X;autosome translocation t(X;20)(p11.2;q11.2) and a phenotype resembling X-linked infantile spasms (ISSX) syndrome.
- Author
-
Morleo M, Iaconis D, Chitayat D, Peluso I, Marzella R, Renieri A, Mari F, and Franco B
- Abstract
We report on a female patient with severe infantile spasms, profound global developmental arrest, hypsarrhythmia and severe mental retardation, associated with a de novo apparently balanced X;autosome translocation. Her neurological phenotype resembles that of X-linked infantile spasms (ISSX). Molecular study showed that the translocation disrupts a transcript involved in GTPases signalling, IQSEC2, mapped to the Xp11.22 region. Several genes involved in intracellular signalling pathways via Ras-homologous small GTPase have been implicated in X-linked neurological disorders. Expression studies revealed that the murine homolog of this transcript, Iqsec2, is highly expressed in the nervous system from the early stages of development. These data suggest that IQSEC2 could be considered a candidate gene for X-linked neurological disorders.
- Published
- 2008
49. The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome.
- Author
-
Crisponi L, Deiana M, Loi A, Chiappe F, Uda M, Amati P, Bisceglia L, Zelante L, Nagaraja R, Porcu S, Ristaldi MS, Marzella R, Rocchi M, Nicolino M, Lienhardt-Roussie A, Nivelon A, Verloes A, Schlessinger D, Gasparini P, Bonneau D, Cao A, and Pilia G
- Subjects
- Adult, Amino Acid Sequence, Animals, Base Sequence, Blepharophimosis genetics, Blepharoptosis genetics, Child, Chromosome Segregation, Chromosomes, Human, Pair 3, Codon, Nonsense, DNA-Binding Proteins genetics, Eyelids embryology, Female, Forkhead Box Protein L2, Forkhead Transcription Factors, Gene Duplication, Humans, Male, Mice, Molecular Sequence Data, Ovary embryology, Pedigree, Proton-Translocating ATPases, Sequence Homology, Amino Acid, Syndrome, Transcription Factors genetics, Abnormalities, Multiple genetics, Eyelid Diseases genetics, Mutation, Nose Diseases genetics
- Abstract
In type I blepharophimosis/ptosis/epicanthus inversus syndrome (BPES), eyelid abnormalities are associated with ovarian failure. Type II BPES shows only the eyelid defects, but both types map to chromosome 3q23. We have positionally cloned a novel, putative winged helix/forkhead transcription factor gene, FOXL2, that is mutated to produce truncated proteins in type I families and larger proteins in type II. Consistent with an involvement in those tissues, FOXL2 is selectively expressed in the mesenchyme of developing mouse eyelids and in adult ovarian follicles; in adult humans, it appears predominantly in the ovary. FOXL2 represents a candidate gene for the polled/intersex syndrome XX sex-reversal goat.
- Published
- 2001
- Full Text
- View/download PDF
50. Molecular cytogenetic resources for chromosome 4 and comparative analysis of phylogenetic chromosome IV in great apes.
- Author
-
Marzella R, Viggiano L, Miolla V, Storlazzi CT, Ricco A, Gentile E, Roberto R, Surace C, Fratello A, Mancini M, Archidiacono N, and Rocchi M
- Subjects
- Animals, Centromere ultrastructure, Chromosome Inversion, Chromosome Painting, Chromosomes, Artificial, Yeast, Evolution, Molecular, Genetic Markers, Humans, Hybrid Cells, Macaca mulatta genetics, Sequence Tagged Sites, Species Specificity, Chromosomes genetics, Chromosomes, Human, Pair 4 genetics, Gorilla gorilla genetics, Pan troglodytes genetics, Phylogeny, Pongo pygmaeus genetics
- Abstract
We have generated a panel of 55 somatic cell hybrids retaining fragments of human chromosome 4. Each hybrid has been characterized cytogenetically by FISH and molecularly by 37 STSs, evenly spaced along the chromosome. The panel can be exploited to map subregionally DNA sequences on chromosome 4 and to generate partial chromosome paints useful in the characterization of chromosomal rearrangements involving this chromosome. Furthermore, a panel of 84 YACs mapping on chromosome 4 has been characterized by FISH. A subset of this panel is recognized by STSs used in the somatic cell hybrid characterization. In this way a correlation between the genetic and the physical maps can be established. These resources have been used to investigate the conservation of the phylogenetic chromosome IV in great apes. The results indicate that all the pericentric inversions that differentiate chromosome IV in these species are distinct and that one of the breakpoints frequently lies very close to the centromere. In 4 instances, the YAC containing the breakpoint was identified. The breakpoint in IVq of PTR and MMU lies in the same YAC, suggesting that this breakpoint has been utilized twice in the evolutionary history of this chromosome., (Copyright 2000 Academic Press.)
- Published
- 2000
- Full Text
- View/download PDF
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