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1 |
Material Type: Artigo
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Kallmann syndrome due to a translocation resulting in an X/Y fusion geneGuioli, S ; Incerti, B ; Zanaria, E ; Bardoni, B ; Franco, B ; Taylor, K ; Ballabio, A ; Camerino, GNature genetics, 1992-08, Vol.1 (5), p.337-340 [Periódico revisado por pares]Texto completo disponível |
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Material Type: Artigo
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Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specificationFerrante, Maria Immacolata ; Bimonte, Sabrina ; Messaddeq, Nadia ; Dollé, Pascal ; Barra, Adriano ; Studer, Michèle ; Zullo, Alessandro ; Franco, BrunellaNature genetics, 2006-01, Vol.38 (1), p.112-117 [Periódico revisado por pares]London: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Kallmann syndrome gene on the X and Y chromosomes: implications for evolutionary divergence of human sex chromosomesIncerti, B ; Guioli, S ; Pragliola, A ; Zanaria, E ; Borsani, G ; Tonlorenzi, R ; Bardoni, B ; Franco, B ; Wheeler, D ; Ballabio, A ; Camerino, GNature genetics, 1992-12, Vol.2 (4), p.311-314 [Periódico revisado por pares]United StatesTexto completo disponível |
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Material Type: Artigo
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Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding geneCoffey, Alison J ; Brooksbank, Robert A ; Brandau, Oliver ; Oohashi, Toshitaka ; Howell, Gareth R ; Bye, Jacqueline M ; Cahn, Anthony P ; Durham, Jillian ; Heath, Paul ; Wray, Paul ; Pavitt, Rebecca ; Wilkinson, Jane ; Leversha, Margaret ; Huckle, Elizabeth ; Shaw-Smith, Charles J ; Dunham, Andrew ; Rhodes, Susan ; Schuster, Volker ; Porta, Giovanni ; Yin, Luo ; Serafini, Paola ; Sylla, Bakary ; Zollo, Massimo ; Franco, Brunella ; Bolino, Alessandra ; Seri, Marco ; Lanyi, Arpad ; Davis, Jack R ; Webster, David ; Harris, Ann ; Lenoir, Gilbert ; de St Basile, Genevieve ; Jones, Alison ; Behloradsky, Bernd H ; Achatz, Helene ; Murken, Jan ; Fassler, Reinhard ; Sumegi, Janos ; Romeo, Giovanni ; Vaudin, Mark ; Ross, Mark T ; Meindl, Alfons ; Bentley, David RNature genetics, 1998-10, Vol.20 (2), p.129-135 [Periódico revisado por pares]London: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22Quaderi, N A ; Schweiger, S ; Gaudenz, K ; Franco, B ; Rugarli, E I ; Berger, W ; Feldman, G J ; Volta, M ; Andolfi, G ; Gilgenkrantz, S ; Marion, R W ; Hennekam, R C ; Opitz, J M ; Muenke, M ; Ropers, H H ; Ballabio, ANature genetics, 1997-11, Vol.17 (3), p.285 [Periódico revisado por pares]United StatesTexto completo disponível |
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Material Type: Artigo
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Different chromosomal localization of the Clcn4 gene in Mus spretus and C57BL/6J miceRugarli, Elena I ; Adler, David A ; Borsani, Giuseppe ; Tsuchiya, Karen ; Franco, Brunella ; Hauge, Xueya ; Disteche, Christine ; Chapman, Verne ; Ballabio, AndreaNature genetics, 1995-08, Vol.10 (4), p.466-471 [Periódico revisado por pares]London: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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KALLMANN SYNDROME DUE TO A TRANSLOCATION RESULTING IN AN X/Y FUSION GENEGUIOLI, S ; INCERTI, B ; ZANARIA, E ; BARDONI, B ; FRANCO, B ; TAYLOR, K ; BALLABIO, A ; CAMERINO, GNature genetics, 1992-08, Vol.1 (5), p.337-340 [Periódico revisado por pares]NEW YORK: Springer NatureTexto completo disponível |
8 |
Material Type: Artigo
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KALLMANN SYNDROME GENE ON THE X-CHROMOSOME AND Y-CHROMOSOMES - IMPLICATIONS FOR EVOLUTIONARY DIVERGENCE OF HUMAN SEX-CHROMOSOMESINCERTI, B ; GUIOLI, S ; PRAGLIOLA, A ; ZANARIA, E ; BORSANI, G ; TONLORENZI, R ; BARDONI, B ; FRANCO, B ; WHEELER, D ; BALLABIO, A ; CAMERINO, GNature genetics, 1992-12, Vol.2 (4), p.311-314 [Periódico revisado por pares]NEW YORK: Springer NatureTexto completo disponível |
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Material Type: Artigo
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Opitz G/BBB syndromes a defect of midline development, is due to mutations in a new RING finger gene on Xp22QUADERI, N. A ; SCHWEIGER, S ; MARION, R. W ; HENNEKAM, R. C. M ; OPITZ, J. M ; MUENKE, M ; ROPERS, H. H ; BALLABIO, A ; GAUDENZ, K ; FRANCO, B ; RUGARLI, E. I ; BERGER, W ; FELDMAN, G. J ; VOLTA, M ; ANDOLFI, G ; GILGENKRANTZ, SNature genetics, 1997, Vol.17 (3), p.285-291 [Periódico revisado por pares]London: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Kallmann syndrome due to a translocation resulting in an X/Y fusion geneGuioli, S ; Incerti, B ; Zanaria, E ; Bardoni, B ; Franco, B ; Taylor, K ; Ballabio, A ; Camerino, GNature genetics, 1992-01, Vol.1 (8), p.337-340 [Periódico revisado por pares]Texto completo disponível |