Oa1 knock-out: new insights on the pathogenesis of ocular albinism type 1 von INCERTI, Barbara, CORTESE, Katia, MARIGO, Valeria, SCHIAFFINO, Maria Vittoria, TACCHETTI, Carlo, BALLABIO, Andrea, PIZZIGNOI, Alessandro, SURACE, Enrico M, VARANI, Simona, COPPOLA, Massimiliano, JEFFERY, Glen, SEELIGER, Mathias, JAISSLE, Gesine, BENNETT, Dorothy C

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SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance von Borsani, Giuseppe, Bassi, Maria Teresa, Sperandeo, Maria Pia, Grandi, Alessandro De, Buoninconti, Anna, Riboni, Mirko, Manzoni, Marta, Incerti, Barbara, Pepe, Antonio, Andria, Generoso, Ballabio, Andrea, Sebastio, Gianfranco

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Kallmann syndrome due to a translocation resulting in an X/Y fusion gene von Guioli, S., Incerti, B., Zanaria, E., Bardoni, B., Franco, B., Taylor, K., Ballabio, A., Camerino, G.

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Kallmann syndrome gene on the X and Y chromosomes: implications for evolutionary divergence of human sex chromosomes von Incerti, B., Guioli, S., Pragliola, A., Zanaria, E., Borsani, G., Tonlorenzi, R., Bardoni, B., Franco, B., Wheeler, D., Ballabio, A., Camerino, G.

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A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules von FRANCO, B, GUIOLI, S, BROWN, C. J, WILLARD, H. F, LAWRENCE, C, GRAZIELLA PERSICO, M, CAMERINO, G, BALLABIO, A, PRAGLIOLA, A, INCERTI, B, BARDONI, B, TONLORENZI, R, CARROZZO, R, MEASTRINI, E, PIERETTI, M, TAILLON-MILLER, P

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Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1 von D'ADDIO, Marilena, PIZZIGONI, Alessandro, BASSI, Maria Teresa, BASCHIROTTO, Cinzia, VALETTI, Caterina, INCERTI, Barbara, CLEMENTI, Maurizio, DE LUCA, Michele, BALLABIO, Andrea, SCHIAFFINO, Maria Vittoria

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Structure of the SLC7A7 Gene and Mutational Analysis of Patients Affected by Lysinuric Protein Intolerance von Sperandeo, Maria Pia, Bassi, Maria Teresa, Riboni, Mirko, Parenti, Giancarlo, Buoninconti, Anna, Manzoni, Marta, Incerti, Barbara, Larocca, Maria Rosaria, Di Rocco, Maja, Strisciuglio, Pietro, Dianzani, Irma, Parini, Rossella, Candito, Miranda, Endo, Fumio, Ballabio, Andrea, Andria, Generoso, Sebastio, Gianfranco, Borsani, Giuseppe

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Identification and Characterization of YME1L1, a Novel Paraplegin-Related Gene von Coppola, Massimiliano, Pizzigoni, Alessandro, Banfi, Sandro, Bassi, Maria Teresa, Casari, Giorgio, Incerti, Barbara

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Intragenic Deletion of the KALIG-1 Gene in Kallmann's Syndrome von Bick, David, Franco, Brunella, Sherins, Richard J, Heye, Babette, Pike, Lisa, Crawford, John, Maddalena, Anne, Incerti, Barbara, Pragliola, Antonella, Meitinger, Thomas, Ballabio, Andrea

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Kallmann syndrome due to a translocation resulting in an X/Y fusion gene von Guioli, S., Incerti, B., Zanaria, E., Bardoni, B., Franco, B., Taylor, K., Ballabio, A., Camerino, G.

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Cloning of the Human Interferon-Related Developmental Regulator (IFRD1) Gene Coding for the PC4 Protein, a Member of a Novel Family of Developmentally Regulated Genes von Buanne, Pasquale, Incerti, Barbara, Guardavaccaro, Daniele, Avvantaggiato, Virginia, Simeone, Antonio, Tirone, Felice

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The Gene Encoding a Cationic Amino Acid Transporter (SLC7A4) Maps to the Region Deleted in the Velocardiofacial Syndrome von Sperandeo, Maria Pia, Borsani, Giuseppe, Incerti, Barbara, Zollo, Massimo, Rossi, Elena, Zuffardi, Orsetta, Castaldo, Pasqualina, Taglialatela, Maurizio, Andria, Generoso, Sebastio, Gianfranco

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Lysinuric protein intolerance characterized by bone marrow abnormalities and severe clinical course von Parenti, Giancarlo, Sebastio, Gianfranco, Strisciuglio, Pietro, Incerti, Barbara, Pecoraro, Carmine, Terracciano, Luigi, Andria, Generoso

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Cloning of the murine homolog of the ocular albinism type 1 (OA1) gene: sequence, genomic structure, and expression analysis in pigment cells von Bassi, M T, Incerti, B, Easty, D J, Sviderskaya, E V, Ballabio, A

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SLC7A8, a Gene Mapping within the Lysinuric Protein Intolerance Critical Region, Encodes a New Member of the Glycoprotein-Associated Amino Acid Transporter Family von Bassi, Maria Teresa, Sperandeo, Maria Pia, Incerti, Barbara, Bulfone, Alessandro, Pepe, Antonio, Surace, Enrico Maria, Gattuso, Claudio, De Grandi, Alessandro, Buoninconti, Anna, Riboni, Mirko, Manzoni, Marta, Andria, Generoso, Ballabio, Andrea, Borsani, Giuseppe, Sebastio, Gianfranco

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Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1 von d'Addio, M, Pizzigoni, A, Bassi, M T, Baschirotto, C, Valetti, C, Incerti, B, Clementi, M, De Luca, M, Ballabio, A, Schiaffino, M V

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Structure of the mouse growth/differentiation factor 9 gene von Incerti, Barbara, Dong, Jinwen, Borsani, Giuseppe, Matzuk, Martin M.

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Variable penetrance of hypogonadism in a sibship with Kallmann syndrome due to a deletion of the KAL gene von Parenti, Giancarlo, Rizzolo, Maria Grazia, Ghezzi, Monica, Maio, Salvatore Di, Sperandeo, Maria Pia, Incerti, Barbara, Franco, Brunella, Ballabio, Andrea, Andria, Generoso

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Kallmann syndrome due to a translocation resulting in an X/Y fusion gene von Guioli, S, Incerti, B, Zanaria, E, Bardoni, B, Franco, B, Taylor, K, Ballabio, A, Camerino, G

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The delta F508 mutation in cystic fibrosis patients of southern Italy von Sebastio, G, Castiglione, O, Incerti, B, Salvatore, D, Santamaria, F

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