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11 Ergebnisse 1 2
Postprint
Consortium of Swiss Academic Libraries

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

Postprint
Consortium of Swiss Academic Libraries

A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein

Wattenhofer, Marie ; Sahin-Calapoglu, Nilüfer ; Andreasen, Ditte ; Kalay, Ersan ; Caylan, Refik ; Braillard, Bastien ; Fowler-Jaeger, Nicole ; Reymond, Alexandre ; Rossier, Bernard ; Karaguzel, Ahmet ; Antonarakis, Stylianos

In: Human Genetics, 2005, vol. 117, no. 6, p. 528-535

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Consortium of Swiss Academic Libraries

Abnormal social behaviors and altered gene expression rates in a mouse model for Potocki-Lupski syndrome

Molina, Jessica ; Carmona-Mora, Paulina ; Chrast, Jacqueline ; Krall, Paola M. ; Canales, César P. ; Lupski, James R. ; Reymond, Alexandre ; Walz, Katherina

In: Human Molecular Genetics, 2008, vol. 17, no. 16, p. 2486-2495

Postprint
Consortium of Swiss Academic Libraries

Comparative gene finding in chicken indicates that we are closing in on the set of multi-exonic widely expressed human genes

Castelo, Robert ; Reymond, Alexandre ; Wyss, Carine ; Câmara, Francisco ; Parra, Genís ; Antonarakis, Stylianos E. ; Guigó, Roderic ; Eyras, Eduardo

In: Nucleic Acids Research, 2005, vol. 33, no. 6, p. 1935-1939

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Consortium of Swiss Academic Libraries

Identification and removal of low-complexity sites in allele-specific analysis of ChIP-seq data

Waszak, Sebastian M. ; Kilpinen, Helena ; Gschwind, Andreas R. ; Orioli, Andrea ; Raghav, Sunil K. ; Witwicki, Robert M. ; Migliavacca, Eugenia ; Yurovsky, Alisa ; Lappalainen, Tuuli ; Hernandez, Nouria ; Reymond, Alexandre ; Dermitzakis, Emmanouil T. ; Deplancke, Bart

In: Bioinformatics, 2014, vol. 30, no. 2, p. 165-171

Postprint
Consortium of Swiss Academic Libraries

Copy number variants, diseases and gene expression

Henrichsen, Charlotte N. ; Chaignat, Evelyne ; Reymond, Alexandre

In: Human Molecular Genetics, 2009, vol. 18, no. R1, p. R1-R8

Postprint
Consortium of Swiss Academic Libraries

LKB1 interacts with and phosphorylates PTEN: a functional link between two proteins involved in cancer predisposing syndromes

Mehenni, Hamid ; Lin-Marq, Nathalie ; Buchet-Poyau, Karine ; Reymond, Alexandre ; Collart, Martine A. ; Picard, Didier ; Antonarakis, Stylianos E.

In: Human Molecular Genetics, 2005, vol. 14, no. 15, p. 2209-2219

Postprint
Consortium of Swiss Academic Libraries

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

Postprint
Consortium of Swiss Academic Libraries

The subcellular localization of the ChoRE-binding protein, encoded by the Williams-Beuren syndrome critical region gene 14, is regulated by 14-3-3

Merla, Giuseppe ; Howald, Cédric ; Antonarakis, Stylianos E. ; Reymond, Alexandre

In: Human Molecular Genetics, 2004, vol. 13, no. 14, p. 1505-1514

Postprint
Consortium of Swiss Academic Libraries

16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy

Reinthaler, Eva M. ; Lal, Dennis ; Lebon, Sebastien ; Hildebrand, Michael S. ; Dahl, Hans-Henrik M. ; Regan, Brigid M. ; Feucht, Martha ; Steinböck, Hannelore ; Neophytou, Birgit ; Ronen, Gabriel M. ; Roche, Laurian ; Gruber-Sedlmayr, Ursula ; Geldner, Julia ; Haberlandt, Edda ; Hoffmann, Per ; Herms, Stefan ; Gieger, Christian ; Waldenberger, Melanie ; Franke, Andre ; Wittig, Michael ; Schoch, Susanne ; Becker, Albert J. ; Hahn, Andreas ; Männik, Katrin ; Toliat, Mohammad R. ; Winterer, Georg ; Lerche, Holger ; Nürnberg, Peter ; Mefford, Heather ; Scheffer, Ingrid E. ; Berkovic, Samuel F. ; Beckmann, Jacques S. ; Sander, Thomas ; Jacquemont, Sebastien ; Reymond, Alexandre ; Zimprich, Fritz ; Neubauer, Bernd A. ; Reinthaler, Eva M. ; Zimprich, Fritz ; Feucht, Martha ; Steinböck, Hannelore ; Neophytou, Birgit ; Geldner, Julia ; Gruber-Sedlmayr, Ursula ; Haberlandt, Edda ; Ronen, Gabriel M. ; Roche, Laurian ; Lal, Dennis ; Nürnberg, Peter ; Sander, Thomas ; Lerche, Holger ; Neubauer, Bernd ; Mörzinger, Martina ; Suls, Arvid ; Weckhuysen, Sarah ; Claes, Lieve ; Deprez, Liesbet ; Smets, Katrien ; Van Dyck, Tine ; Deconinck, Tine ; De Jonghe, Peter ; Møller, Rikke S. ; Klitten, Laura L. ; Hjalgrim, Helle ; Campus, Kiel ; Helbig, Ingo ; Muhle, Hiltrud ; Ostertag, Philipp ; von Spiczak, Sarah ; Stephani, Ulrich ; Trucks, Holger ; Elger, Christian E. ; Kleefuß-Lie, Ailing A. ; Kunz, Wolfram S. ; Surges, Rainer ; Gaus, Verena ; Janz, Dieter ; Schmitz, Bettina ; Rosenow, Felix ; Klein, Karl Martin ; Reif, Philipp S. ; Oertel, Wolfgang H. ; Hamer, Hajo M. ; Becker, Felicitas ; Weber, Yvonne ; Koeleman, Bobby P.C. ; de Kovel, Carolien ; Lindhout, Dick ; Ameil, Agnès ; Andrieux, Joris ; Bouquillon, Sonia ; Boute, Odile ; de Flandre, Jeanne ; Cuisset, Jean Marie ; Cuvellier, Jean-Christophe ; Salengro, Roger ; David, Albert ; de Vries, Bert ; Delrue, Marie-Ange ; Doco-Fenzy, Martine ; Fernandez, Bridget A. ; Heron, Delphine ; Keren, Boris ; Lebel, Robert ; Leheup, Bruno ; Lewis, Suzanne ; Mencarelli, Maria Antonietta ; Mignot, Cyril ; Minet, Jean-Claude ; Moerman, Alexandre ; Morice-Picard, Fanny ; Mucciolo, Mafalda ; Ounap, Katrin ; Pasquier, Laurent ; Petit, Florence ; Ragona, Francesca ; Rajcan-Separovic, Evica ; Renieri, Alessandra ; Rieubland, Claudine ; Sanlaville, Damien ; Sarrazin, Elisabeth ; Shen, Yiping ; van Haelst, Mieke ; Silfhout, Anneke Vulto-van

In: Human Molecular Genetics, 2014, vol. 23, no. 22, p. 6069-6080

11 Ergebnisse 1 2