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Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3

Ansar, Muhammad ; Chung, Hyunglok ; Waryah, Yar M. ; Makrythanasis, Periklis ; Falconnet, Emilie ; Rao, Ali Raza ; Guipponi, Michel ; Narsani, Ashok K. ; Fingerhut, Ralph ; Santoni, Federico A. ; Ranza, Emmanuelle ; Waryah, Ali M. ; Bellen, Hugo J. ; Antonarakis, Stylianos E.

In: Human Molecular Genetics, 2018, vol. 27, no. 15, p. 2703-2711

The murine orthologue of the Golgi-localized TPTE protein provides clues to the evolutionary history of the human TPTE gene family

Guipponi, Michel ; Tapparel, Caroline ; Jousson, Olivier ; Scamuffa, Nathalie ; Mas, Christophe ; Rossier, Colette ; Hutter, Pierre ; Meda, Paolo ; Lyle, Robert ; Reymond, Alexandre ; Antonarakis, Stylianos

In: Human Genetics, 2001, vol. 109, no. 6, p. 569-575

Genomic structure of a copy of the human TPTE gene which encompasses 87kb on the short arm of chromosome 21

Guipponi, Michel ; Yaspo, Marie-Laure ; Riesselman, Lisa ; Chen, Haiming ; De Sario, Albertina ; Roizès, Gérard ; Antonarakis, Stylianos E.

In: Human Genetics, 2000, vol. 107, no. 2, p. 127-131

Linkage mapping of benign familial infantile convulsions (BFIC) to chromosome 19q

Guipponi, Michel ; Rivier, François ; Vigevano, Federico ; Beck, Corinne ; Crespel, Arielle ; Echenne, Bernard ; Lucchini, Pierpaolo ; Sebastianelli, Rosella ; Baldy-Moulinier, Michel ; Malafosse, Alain

In: Human Molecular Genetics, 1997, vol. 6, no. 3, p. 473-477

The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro

Guipponi, Michel ; Vuagniaux, Grégoire ; Wattenhofer, Marie ; Shibuya, Kazunori ; Vazquez, Maria ; Dougherty, Loretta ; Scamuffa, Nathalie ; Guida, Elizabeth ; Okui, Michiyo ; Rossier, Colette ; Hancock, Manuela ; Buchet, Karine ; Reymond, Alexandre ; Hummler, Edith ; Marzella, Phillip L. ; Kudoh, Jun ; Shimizu, Nobuyoshi ; Scott, Hamish S. ; Antonarakis, Stylianos E. ; Rossier, Bernard C.

In: Human Molecular Genetics, 2002, vol. 11, no. 23, p. 2829-2836

Galanin pathogenic mutations in temporal lobe epilepsy

Guipponi, Michel ; Chentouf, Amina ; Webling, Kristin E.B. ; Freimann, Krista ; Crespel, Arielle ; Nobile, Carlo ; Lemke, Johannes R. ; Hansen, Jörg ; Dorn, Thomas ; Lesca, Gaetan ; Ryvlin, Philippe ; Hirsch, Edouard ; Rudolf, Gabrielle ; Rosenberg, Dominique Sarah ; Weber, Yvonne ; Becker, Felicitas ; Helbig, Ingo ; Muhle, Hiltrud ; Salzmann, Annick ; Chaouch, Malika ; Oubaiche, Mohand Laid ; Ziglio, Serena ; Gehrig, Corinne ; Santoni, Federico ; Pizzato, Massimo ; Langel, Ülo ; Antonarakis, Stylianos E.

In: Human Molecular Genetics, 2015, vol. 24, no. 11, p. 3082-3091

Tmprss3 loss of function impairs cochlear inner hair cell Kcnma1 channel membrane expression

Molina, Laurence ; Fasquelle, Lydie ; Nouvian, Régis ; Salvetat, Nicolas ; Scott, Hamish S. ; Guipponi, Michel ; Molina, Franck ; Puel, Jean-Luc ; Delprat, Benjamin

In: Human Molecular Genetics, 2013, vol. 22, no. 7, p. 1289-1299

A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD)

Giorgio, Elisa ; Robyr, Daniel ; Spielmann, Malte ; Ferrero, Enza ; Di Gregorio, Eleonora ; Imperiale, Daniele ; Vaula, Giovanna ; Stamoulis, Georgios ; Santoni, Federico ; Atzori, Cristiana ; Gasparini, Laura ; Ferrera, Denise ; Canale, Claudio ; Guipponi, Michel ; Pennacchio, Len A. ; Antonarakis, Stylianos E. ; Brussino, Alessandro ; Brusco, Alfredo

In: Human Molecular Genetics, 2015, vol. 24, no. 11, p. 3143-3154

Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32

Steffens, Michael ; Leu, Costin ; Ruppert, Ann-Kathrin ; Zara, Federico ; Striano, Pasquale ; Robbiano, Angela ; Capovilla, Giuseppe ; Tinuper, Paolo ; Gambardella, Antonio ; Bianchi, Amedeo ; La Neve, Angela ; Crichiutti, Giovanni ; de Kovel, Carolien G.F. ; Kasteleijn-Nolst Trenité, Dorothée ; de Haan, Gerrit-Jan ; Lindhout, Dick ; Gaus, Verena ; Schmitz, Bettina ; Janz, Dieter ; Weber, Yvonne G. ; Becker, Felicitas ; Lerche, Holger ; Steinhoff, Bernhard J. ; Kleefuß-Lie, Ailing A. ; Kunz, Wolfram S. ; Surges, Rainer ; Elger, Christian E. ; Muhle, Hiltrud ; von Spiczak, Sarah ; Ostertag, Philipp ; Helbig, Ingo ; Stephani, Ulrich ; Møller, Rikke S. ; Hjalgrim, Helle ; Dibbens, Leanne M. ; Bellows, Susannah ; Oliver, Karen ; Mullen, Saul ; Scheffer, Ingrid E. ; Berkovic, Samuel F. ; Everett, Kate V. ; Gardiner, Mark R. ; Marini, Carla ; Guerrini, Renzo ; Lehesjoki, Anna-Elina ; Siren, Auli ; Guipponi, Michel ; Malafosse, Alain ; Thomas, Pierre ; Nabbout, Rima ; Baulac, Stephanie ; Leguern, Eric ; Guerrero, Rosa ; Serratosa, Jose M. ; Reif, Philipp S. ; Rosenow, Felix ; Mörzinger, Martina ; Feucht, Martha ; Zimprich, Fritz ; Kapser, Claudia ; Schankin, Christoph J. ; Suls, Arvid ; Smets, Katrin ; De Jonghe, Peter ; Jordanova, Albena ; Caglayan, Hande ; Yapici, Zuhal ; Yalcin, Destina A. ; Baykan, Betul ; Bebek, Nerses ; Ozbek, Ugur ; Gieger, Christian ; Wichmann, Heinz-Erich ; Balschun, Tobias ; Ellinghaus, David ; Franke, Andre ; Meesters, Christian ; Becker, Tim ; Wienker, Thomas F. ; Hempelmann, Anne ; Schulz, Herbert ; Rüschendorf, Franz ; Leber, Markus ; Pauck, Steffen M. ; Trucks, Holger ; Toliat, Mohammad R. ; Nürnberg, Peter ; Avanzini, Giuliano ; Koeleman, Bobby P.C. ; Sander, Thomas

In: Human Molecular Genetics, 2012, vol. 21, no. 24, p. 5359-5372

The Caenorhabditis elegans ortholog of C21orf80, a potential new protein O-fucosyltransferase, is required for normal development

Menzel, Olivier ; Vellai, Tibor ; Takacs-Vellai, Krisztina ; Reymond, Alexandre ; Müller, Fritz ; Antonarakis, Stylianos E. ; Guipponi, Michel

In: Genomics, 2004, vol. 84, p. 320-330

Down syndrome (DS), as a phenotypic result of trisomy 21, is the most frequent aneuploidy at birth and the most common known genetic cause of mental retardation. DS is also characterized by other phenotypes affecting many organs, including brain, muscle, heart, limbs, gastrointestinal tract, skeleton, and blood. Any of the human chromosome 21 (Hsa21) genes may contribute to some of the DS...