Early detection of Angelman syndrome resulting from de novo paternal isodisomic 15q UPD and review of comparable cases

por Horváth, Emese, Horváth, Zsuzsanna, Isaszegi, Dóra, Gergev, Gyurgyinka, Nagy, Nikoletta, Szabó, János, Sztriha, László, Széll, Márta, Endreffy, Emőke
Publicado 2013

Paraoxonase 1 activities and polymorphisms in autism spectrum disorders

por Paşca, Sergiu P, Dronca, Eleonora, Nemeş, Bogdan, Kaucsár, Tamás, Endreffy, Emõke, Iftene, Felicia, Benga, Ileana, Cornean, Rodica, Dronca, Maria
Publicado 2010

Efficient Targeted Next Generation Sequencing-Based Workflow for Differential Diagnosis of Alport-Related Disorders

por Kovács, Gábor, Kalmár, Tibor, Endreffy, Emőke, Ondrik, Zoltán, Iványi, Béla, Rikker, Csaba, Haszon, Ibolya, Túri, Sándor, Sinkó, Mária, Bereczki, Csaba, Maróti, Zoltán
Publicado 2016

One carbon metabolism disturbances and the C677T MTHFR gene polymorphism in children with autism spectrum disorders

por Paşca, Sergiu P, Dronca, Eleonora, Kaucsár, Tamás, Crǎciun, Elena C, Endreffy, Emõke, Ferencz, Beatrix K, Iftene, Felicia, Benga, Ileana, Cornean, Rodica, Banerjee, Ruma, Dronca, Maria
Publicado 2009

Replication of recently identified systemic lupus erythematosus genetic associations: a case–control study

por Suarez-Gestal, Marian, Calaza, Manuel, Endreffy, Emöke, Pullmann, Rudolf, Ordi-Ros, Josep, Domenico Sebastiani, Gian, Ruzickova, Sarka, Jose Santos, Maria, Papasteriades, Chryssa, Marchini, Maurizio, Skopouli, Fotini N, Suarez, Ana, Blanco, Francisco J, D'Alfonso, Sandra, Bijl, Marc, Carreira, Patricia, Witte, Torsten, Migliaresi, Sergio, Gomez-Reino, Juan J, Gonzalez, Antonio
Publicado 2009

Further Evidence of Subphenotype Association with Systemic Lupus Erythematosus Susceptibility Loci: A European Cases Only Study

por Alonso-Perez, Elisa, Suarez-Gestal, Marian, Calaza, Manuel, Ordi-Ros, Josep, Balada, Eva, Bijl, Marc, Papasteriades, Chryssa, Carreira, Patricia, Skopouli, Fotini N., Witte, Torsten, Endreffy, Emöke, Marchini, Maurizio, Migliaresi, Sergio, Sebastiani, Gian Domenico, Santos, Maria Jose, Suarez, Ana, Blanco, Francisco J., Barizzone, Nadia, Pullmann, Rudolf, Ruzickova, Sarka, Lauwerys, Bernard R., Gomez-Reino, Juan J., Gonzalez, Antonio
Publicado 2012

Fine mapping and conditional analysis identify a new mutation in the autoimmunity susceptibility gene BLK that leads to reduced half-life of the BLK protein

por Delgado-Vega, Angélica M, Dozmorov, Mikhail G, Quirós, Manuel Bernal, Wu, Ying-Yu, Martínez-García, Belén, Kozyrev, Sergey V, Frostegård, Johan, Truedsson, Lennart, de Ramón, Enrique, González-Escribano, María F, Ortego-Centeno, Norberto, Pons-Estel, Bernardo A, D'Alfonso, Sandra, Sebastiani, Gian Domenico, Witte, Torsten, Lauwerys, Bernard R, Endreffy, Emoke, Kovács, László, Vasconcelos, Carlos, da Silva, Berta Martins, Wren, Jonathan D, Martin, Javier, Castillejo-López, Casimiro, Alarcón-Riquelme, Marta E
Publicado 2012

Transancestral mapping and genetic load in systemic lupus erythematosus

por Langefeld, Carl D., Ainsworth, Hannah C., Graham, Deborah S. Cunninghame, Kelly, Jennifer A., Comeau, Mary E., Marion, Miranda C., Howard, Timothy D., Ramos, Paula S., Croker, Jennifer A., Morris, David L., Sandling, Johanna K., Almlöf, Jonas Carlsson, Acevedo-Vásquez, Eduardo M., Alarcón, Graciela S., Babini, Alejandra M., Baca, Vicente, Bengtsson, Anders A., Berbotto, Guillermo A., Bijl, Marc, Brown, Elizabeth E., Brunner, Hermine I., Cardiel, Mario H., Catoggio, Luis, Cervera, Ricard, Cucho-Venegas, Jorge M., Dahlqvist, Solbritt Rantapää, D’Alfonso, Sandra, Da Silva, Berta Martins, de la Rúa Figueroa, Iñigo, Doria, Andrea, Edberg, Jeffrey C., Endreffy, Emőke, Esquivel-Valerio, Jorge A., Fortin, Paul R., Freedman, Barry I., Frostegård, Johan, García, Mercedes A., de la Torre, Ignacio García, Gilkeson, Gary S., Gladman, Dafna D., Gunnarsson, Iva, Guthridge, Joel M., Huggins, Jennifer L., James, Judith A., Kallenberg, Cees G. M., Kamen, Diane L., Karp, David R., Kaufman, Kenneth M., Kottyan, Leah C., Kovács, László, Laustrup, Helle, Lauwerys, Bernard R., Li, Quan-Zhen, Maradiaga-Ceceña, Marco A., Martín, Javier, McCune, Joseph M., McWilliams, David R., Merrill, Joan T., Miranda, Pedro, Moctezuma, José F., Nath, Swapan K., Niewold, Timothy B., Orozco, Lorena, Ortego-Centeno, Norberto, Petri, Michelle, Pineau, Christian A., Pons-Estel, Bernardo A., Pope, Janet, Raj, Prithvi, Ramsey-Goldman, Rosalind, Reveille, John D., Russell, Laurie P., Sabio, José M., Aguilar-Salinas, Carlos A., Scherbarth, Hugo R., Scorza, Raffaella, Seldin, Michael F., Sjöwall, Christopher, Svenungsson, Elisabet, Thompson, Susan D., Toloza, Sergio M. A., Truedsson, Lennart, Tusié-Luna, Teresa, Vasconcelos, Carlos, Vilá, Luis M., Wallace, Daniel J., Weisman, Michael H., Wither, Joan E., Bhangale, Tushar, Oksenberg, Jorge R., Rioux, John D., Gregersen, Peter K., Syvänen, Ann-Christine, Rönnblom, Lars, Criswell, Lindsey A., Jacob, Chaim O., Sivils, Kathy L., Tsao, Betty P., Schanberg, Laura E., Behrens, Timothy W., Silverman, Earl D., Alarcón-Riquelme, Marta E., Kimberly, Robert P., Harley, John B., Wakeland, Edward K., Graham, Robert R., Gaffney, Patrick M., Vyse, Timothy J.
Publicado 2017