Pretraga

Rezultati

Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease [2013]

Schmidts, Miriam; Frank, Valeska; Eisenberger, Tobias; al, Turki Saeed; Bizet, Albane A.; Antony, Dinu; Rix, Suzanne; Decker, Christian; Bachmann, Nadine; Bald, Martin;

Vinke, Tobias; Toenshoff, Burkhard; Di, Donato Natalia; Neuhann, Theresa; Hartley, Jane L.; Maher, Eamonn R.; Bogdanović, Radovan; Peco‐Antić, Amira; Mache, Christoph; Hurles, Matthew E.; Joksić, Ivana; Guć‐Šćekić, Marija; Rakobradović, Jelena ; Branković-Magić, Mirjana ; Bolz, Hanno J.; Pazour, Gregory J.; Beales, Philip L.; Scambler, Peter J.; Saunier, Sophie; Mitchison, Hannah M.; Bergmann, Carsten;

Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants [2012]

Kroos, Marian; Hoogeveen-Westerveld, Marianne; Michelakakis, Helen; Pomponio, Robert; Van, der Ploeg Ans; Halley, Dicky; Reuser, Arnold; Augoustides-Savvopoulou, Persephone; Ausems, Margreet; Llona, Jose Barcena;

Bautista, Lorite Juan; van, der Beek Nadine; Bonafe, Luisa; Cuk, Mario; D'Hooghe, Marc; Engelen, Baziel; Farouk, A.; Fumic, K.; Garcia-Delgado, E.; Herzog, Andreas; Hurst, J.; Jones, Simon; Kariminejad, M. H.; Küçükçongar, Aynur; Lissens, W.; Lund, Allan; Majoor-Krakauer, Danielle; Kumamoto, Shingo; Maravi, E.; Marie, Suely; Mengel, Eugen; Mavridou, Irene; Munteis, Olivas E.; Najmabadi, H.; Okumiya, Toshika; Perić, Stojan ; Paschke, Eduard; Plecko, Barbara; Robberecht, Wim; Serdaroglu, Piraye; Shboul, Mohammad; Tansek, Mojca Zerjav; Tarnutzer, A.; Stojanovic, Vidosava Rakocevic; Tylki-Szymanska, Anna; Venâncio, Maria; Verhoeven, Kristof;

Duplications in the DMD gene [2006]

White, SJ; Aartsma-Rus, A; Flanigan, KM; Weiss, RB; Kneppers, ALJ; Lalic, Tanja; Janson, AAM; Ginjaar, HB; Breuning, MH; den, Dunnen JT

The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations [2015]

Bladen, Catherine L.; Salgado, David; Monges, Soledad; Foncuberta, Maria E.; Kekou, Kyriaki; Kosma, Konstantina; Dawkins, Hugh; Lamont, Leanne; Roy, Anna J.; Chamova, Teodora;

Guergueltcheva, Velina; Chan, Sophelia; Korngut, Lawrence; Campbell, Craig; Dai, Yi; Wang, Jen; Barišić, Nina; Brabec, Petr; Lahdetie, Jaana; Walter, Maggie C.; Schreiber-Katz, Olivia; Karcagi, Veronika; Garami, Marta; Viswanathan, Venkatarman; Bayat, Farhad; Buccella, Filippo; Kimura, En; Koeks, Zaïda; van, den Bergen Janneke C.; Rodrigues, Miriam; Roxburgh, Richard; Lusakowska, Anna; Kostera-Pruszczyk, Anna; Zimowski, Janusz; Santos, Rosário; Neagu, Elena; Artemieva, Svetlana; Rasic, Vedrana Milic; Vojinovic, Dina; Posada, Manuel; Bloetzer, Clemens; Jeannet, Pierre-Yves; Joncourt, Franziska; Díaz-Manera, Jordi; Gallardo, Eduard; Karaduman, A. Ayşe; Topaloğlu, Haluk; El, Sherif Rasha; Stringer, Angela; Shatillo, Andriy V.; Martin, Ann S.; Peay, Holly L.; Bellgard, Matthew I.; Kirschner, Jan; Flanigan, Kevin M.; Straub, Volker; Bushby, Kate; Verschuuren, Jan; Aartsma-Rus, Annemieke; Béroud, Christophe; Lochmüller, Hanns;

Characterization of aryl hydrocarbon receptor interacting protein (AIP) mutations in familial isolated pituitary adenoma families [2010]

Igreja, Susana; Chahal, Harvinder S.; King, Peter; Bolger, Graeme B.; Srirangalingam, Umasuthan; Guasti, Leonardo; Chapple, J. Paul; Trivellin, Giampaolo; Gueorguiev, Maria; Guegan, Katie;

Stals, Karen; Khoo, Bernard; Kumar, Ajith V.; Ellard, Sian; Grossman, Ashley B.; Korbonits, Márta;

The TREAT-NMD Duchenne Muscular Dystrophy Registries: Conception, Design, and Utilization by Industry and Academia [2013]

Bladen, Catherine L.; Rafferty, Karen; Straub, Volker; Monges, Soledad; Moresco, Angélica; Dawkins, Hugh; Roy, Anna; Chamova, Teodora; Guergueltcheva, Velina; Korngut, Lawrence;

Campbell, Craig; Dai, Yi; Barišić, Nina; Kos, Tea; Brabec, Petr; Rahbek, Jes; Lahdetie, Jaana; Tuffery-Giraud, Sylvie; Claustres, Mireille; Leturcq, France; Ben, Yaou Rabah; Walter, Maggie C.; Schreiber, Olivia; Karcagi, Veronika; Herczegfalvi, Agnes; Viswanathan, Venkatarman; Bayat, Farhad; de, la caridad Guerrero Sarmiento Isis; Ambrosini, Anna; Ceradini, Francesca; Kimura, En; van, den Bergen Janneke C.; Rodrigues, Miriam; Roxburgh, Richard; Lusakowska, Anna; Oliveira, Jorge; Santos, Rosário; Neagu, Elena; Butoianu, Niculina; Artemieva, Svetlana; Rasic, Vedrana Milic; Posada, Manuel; Palau, Francesc; Lindvall, Björn; Bloetzer, Clemens; Karaduman, Ayşe; Topaloğlu, Haluk; Inal, Serap; Oflazer, Piraye; Stringer, Angela; Shatillo, Andriy V.; Martin, Ann S.; Peay, Holly; Flanigan, Kevin M.; Salgado, David; von, Rekowski Brigitta; Lynn, Stephen; Heslop, Emma; Gainotti, Sabina; Taruscio, Domenica; Kirschner, Jan; Verschuuren, Jan; Bushby, Kate; Béroud, Christophe; Lochmüller, Hanns;

Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome [2017]

Pannone, Luca; Bocchinfuso, Gianfranco; Flex, Elisabetta; Rossi, Cesare; Baldassarre, Giuseppina; Lissewski, Christina; Pantaleoni, Francesca; Consoli, Federica; Lepri, Francesca; Magliozzi, Monia;

Anselmi, Massimiliano; Delle, Vigne Silvia; Sorge, Giovanni; Karaer, Kadri; Čuturilo, Goran ; Sartorio, Alessandro; Tinschert, Sigrid; Accadia, Maria; Digilio, Maria C.; Zampino, Giuseppe; De, Luca Alessandro; Cavé, Hélène; Zenker, Martin; Gelb, Bruce D.; Dallapiccola, Bruno; Stella, Lorenzo; Ferrero, Giovanni B.; Martinelli, Simone; Tartaglia, Marco;

250 CTG repeats in DMPK is a threshold for correlation of expansion size and age at onset of juvenile-adult DM1 [2002]

Savic, Dusanka Lj ; Rakocevic-Stojanovic, Vidosava M; Keckarevic, Dusan P; Culjkovic, Biljana; Stojkovic, O; Mladenovic, Jelena M; Todorovic, Slobodanka; Apostolski, Slobodan A; Romac, Stanka P

Pathogenic validation of unique germline intronic variants ofRB1 in retinoblastoma patients using minigenes (✓) [2007]

Gámez-Pozo, Angelo; Palacios, Itziar; Kontić, Milica ; Menéndez, Ibis; Camino, Isabel; García-Miguel, Purificación; Abelairas, José; Pestaña, Ángel; Alonso, Javier

Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10 [2010]

Frank-Raue, Karin; Rybicki, Lisa A.; Erlic, Zoran; Schweizer, Heiko; Winter, Aurelia; Milos, Ioana; Toledo, Sergio P.A.; Toledo, Rodrigo A.; Tavares, Marcos R.; Alevizaki, Maria;

Mian, Caterina; Siggelkow, Heide; Hüfner, Michael; Wohllk, Nelson; Opocher, Giuseppe; Dvořáková, Šárka; Bendlova, Bela; Czetwertynska, Małgorzata; Skasko, Elżbieta; Barontini, Marta; Sanso, Gabriela; Vorländer, Christian; Maia, Ana Luiza; Patocs, Attila; Links, Thera P.; de, Groot Jan Willem; Kerstens, Michiel N.; Valk, Gerlof D.; Miehle, Konstanze; Musholt, Thomas J.; Biarnes, Josefina; Damjanović, Svetozar ; Muresan, Mihaela; Wüster, Christian; Fassnacht, Martin; Peczkowska, Mariola; Fauth, Christine; Golcher, Henriette; Walter, Martin A.; Pichl, Josef; Raue, Friedhelm; Eng, Charis; Neumann, Hartmut P.H.;