3697G > A in MT-ND1 is a causative mutation in mitochondrial disease

Autor: Spangenberg, Lucía, Graña, Martín, Greif, Gonzalo, Suarez-Rivero, Juan M., Krysztal, Karina, Tapié, Alejandra, Boidi, María, Fraga, Valeria, Lemes, Aída, Gueçaimburú, Rosario, Cerisola, Alfredo, Sánchez-Alcázar, José A., Robello, Carlos, Raggio, Victor, Naya, Hugo

Publikováno v: In Mitochondrion May 2016 28:54-59

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project

Autor: McHugh, David M.S., Cameron, Cynthia A., Abdenur, Jose E., Abdulrahman, Mahera, Adair, Ona, Al Nuaimi, Shahira Ahmed, Åhlman, Henrik, Allen, Jennifer J., Antonozzi, Italo, Archer, Shaina, Au, Sylvia, Auray-Blais, Christiane, Baker, Mei, Bamforth, Fiona, Beckmann, Kinga, Pino, Gessi Bentz, Berberich, Stanton L., Binard, Robert, Boemer, François, Bonham, Jim, Breen, Nancy N., Bryant, Sandra C., Caggana, Michele, Caldwell, S. Graham, Camilot, Marta, Campbell, Carlene, Carducci, Claudia, Cariappa, Rohit, Carlisle, Clover, Caruso, Ubaldo, Cassanello, Michela, Castilla, Ane Miren, Ramos, Daisy E Castiñeiras, Chakraborty, Pranesh, Chandrasekar, Ram, Ramos, Alfredo Chardon, Cheillan, David, Chien, Yin-Hsiu, Childs, Thomas A., Chrastina, Petr, Sica, Yuri Cleverthon, de Juan, Jose Angel Cocho, Colandre, Maria Elena, Espinoza, Veronica Cornejo, Corso, Gaetano, Currier, Robert, Cyr, Denis, Czuczy, Noemi, D'Apolito, Oceania, Davis, Tim, de Sain-Van der Velden, Monique G., De Pecellin, Carmen lgado, Di Gangi, Iole Maria, Di Stefano, Cristina Maria, Dotsikas, Yannis, Downing, Melanie, Downs, Stephen M., Dy, Bonifacio, Dymerski, Mark, Rueda, Inmaculada, Elvers, Bert, Eaton, Roger, Eckerd, Barbara M., El Mougy, Fatma, Eroh, Sarah, Espada, Mercedes, Evans, Catherine, Fawbush, Sandy, Fijolek, Kristel F., Fisher, Lawrence, Franzson, Leifur, Frazier, Dianne M., Garcia, Luciana R.C., Bermejo, Maria Sierra García-Valdecasas, Gavrilov, Dimitar, Gerace, Rosemarie, Giordano, Giuseppe, Irazabal, Yolanda González, Greed, Lawrence C., Grier, Robert, Grycki, Elyse, Gu, Xuefan, Gulamali-Majid, Fizza, Hagar, Arthur F., Han, Lianshu, Hannon, W. Harry, Haslip, Christa, Hassan, Fayza Abdelhamid, He, Miao, Hietala, Amy, Himstedt, Leslie, Hoffman, Gary L., Hoffman, William, Hoggatt, Philis, Hopkins, Patrick V., Hougaard, David M., Hughes, Kerie, Hunt, Patricia R., Hwu, Wuh-Liang, Hynes, June, Ibarra-González, Isabel, Ingham, Cindy A., Ivanova, Maria, Jacox, Ward B., John, Catharine, Johnson, John P., Jónsson, Jón j, Karg, Eszter, Kasper, David, Klopper, Brenda, Katakouzinos, Dimitris, Khneisser, Issam, Knoll, Detlef, Kobayashi, Hirinori, Koneski, Ronald, Kožich, Viktor, Kouapei, Rasoul, Kohlmueller, Dirk, Kremensky, Ivo, la Marca, Giancarlo, Lavochkin, Marcia, Lee, Soo-Youn, Lehotay, Denis C., Lemes, Aida, Lepage, Joyce, Lesko, Barbara, Lewis, Barry, Lim, Carol, Linard, Sharon, Lindner, Martin, Lloyd-Puryear, Michele A., Lorey, Fred, Loukas, Yannis L., Luedtke, Julie, Maffitt, Neil, Magee, J. Fergall, Manning, Adrienne, Manos, Shawn, Marie, Sandrine, Hadachi, Sônia Marchezi, Marquardt, Gregg, Martin, Stephen J., Matern, Dietrich, Gibson, Stephanie K. Mayfield, Mayne, Philip, McCallister, Tonya D., McCann, Mark, McClure, Julie, McGill, James J., McKeever, Christine D., McNeilly, Barbara, Morrissey, Mark A., Moutsatsou, Paraskevi, Mulcahy, Eleanor A., Nikoloudis, Dimitris, Norgaard-Pedersen, Bent, Oglesbee, Devin, Oltarzewski, Mariusz, Ombrone, Daniela, Ojodu, Jelili, Papakonstantinou, Vagelis, Reoyo, Sherly Pardo, Park, Hyung-Doo, Pasquali, Marzia, Pasquini, Elisabetta, Patel, Pallavi, Pass, Kenneth A., Peterson, Colleen, Pettersen, Rolf D., Pitt, James J., Poh, Sherry, Pollak, Arnold, Porter, Cory, Poston, Philip A., Price, Ricky W., Queijo, Cecilia, Quesada, Jonessy, Randell, Edward, Ranieri, Enzo, Raymond, Kimiyo, Reddic, John E., Reuben, Alejandra, Ricciardi, Charla, Rinaldo, Piero ^*, Rivera, Jeff D., Roberts, Alicia, Rocha, Hugo, Roche, Geraldine, Greenberg, Cheryl Rochman, Mellado, José María Egea, Juan-Fita, María Jesús, Ruiz, Consuelo, Ruoppolo, Margherita, Rutledge, S. Lane, Ryu, Euijung, Saban, Christine, Sahai, Inderneel, García-Blanco, Maria Isabel Salazar, Santiago-Borrero, Pedro, Schenone, Andrea, Schoos, Roland, Schweitzer, Barb, Scott, Patricia, Seashore, Margretta R., Seeterlin, Mary A., Sesser, David E., Sevier, Darrin W., Shone, Scott M., Sinclair, Graham, Skrinska, Victor A., Stanley, Eleanor L., Strovel, Erin T., Jones, April L Studinski, Sunny, Sherlykutty, Takats, Zoltan, Tanyalcin, Tijen, Teofoli, Francesca, Thompson, J. Robert, Tomashitis, Kathy, Domingos, Mouseline Torquado, Torres, Jasmin, Torres, Rosario, Tortorelli, Silvia, Turi, Sandor, Turner, Kimberley, Tzanakos, Nick, Valiente, Alf G., Vallance, Hillary, Vela-Amieva, Marcela, Vilarinho, Laura, von Döbeln, Ulrika, Vincent, Marie-Francoise, Vorster, B. Chris, Watson, Michael S., Webster, Dianne, Weiss, Sheila, Wilcken, Bridget, Wiley, Veronica, Williams, Sharon K., Willis, Sharon A., Woontner, Michael, Wright, Katherine, Yahyaoui, Raquel, Yamaguchi, Seiji, Yssel, Melissa, Zakowicz, Wendy M.

Publikováno v: In Genetics in Medicine March 2011 13(3):230-254

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Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy

Autor: Mendes, Marisa I., Gutierrez Salazar, Mariana, Guerrero, Kether, Thiffault, Isabelle, Salomons, Gajja S., Gauquelin, Laurence, Tran, Luan T., Forget, Diane, Gauthier, Marie-Soleil, Waisfisz, Quinten, Smith, Desiree E.C., Simons, Cas, van der Knaap, Marjo S., Marquardt, Iris, Lemes, Aida, Mierzewska, Hanna, Weschke, Bernhard, Koehler, Wolfgang, Coulombe, Benoit, Wolf, Nicole I., Bernard, Geneviève

Publikováno v: In The American Journal of Human Genetics 5 April 2018 102(4):676-684

Pesquisa neonatal

Autor: Lemes, Aída, Queijo, Cecilia, Garlo, Paola, Machado, María, Queiruga, Graciela

Publikováno v: Archivos de Pediatría del Uruguay, Volume: 83, Issue: 1, Pages: 40-44, Published: MAR 2012

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______615::8555507e71ed9d75eab77b7b775f86d2
http://www.scielo.edu.uy/scielo.php?script=sci_arttext&pid=S1688-12492012000100009&lng=en&tlng=en