Molekulargenetische Untersuchungen zur autosomal rezessiven proximalen spinalen Muskelatrophie (SMA)

Autor: Schwarzer, Verena.

Köln, University, Diss., 2005.

Externí odkaz: http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&doc_number=014720683&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA

LHON/MELAS overlap syndrome associated with a mitochondrial MTND1 gene mutation.

Autor: Blakely, Emma L., de Silva, Rajith, King, Andrew, Schwarzer, Verena, Harrower, Tim, Dawidek, Gervase, Turnbull, Douglass M., Taylor, Robert W.

Publikováno v: European Journal of Human Genetics; May2005, Vol. 13 Issue 5, p623-627, 5p

Maternal Side-Effects After Multiple Courses of Antenatal Corticosteroids (MACS): The Three- Month Follow-Up of Women in the Randomized Controlled Trial of MACS for Preterm Birth Study

Autor: Murphy, Kellie E., Hannah, Mary E., Willan, Andrew R., Ohlsson, Arne, Kelly, Edmond N., Matthews, Stephen G., Saigal, Saroj, Asztalos, Elizabeth, Ross, Sue, Delisle, Marie-France, Tomat, Laura, Amankwah, Kofi, Guselle, Patricia, Gafni, Amiram, Lee, Shoo K., Anthony Armson, B., Group, for the MACS Collaborative, Murphy, Kellie E., Amankwah, Kofi, Armson, B. Anthony, Asztalos, Elizabeth, Delisle, MarieFrance, Gafni, Amiram, Guselle, Patricia, Hannah, Mary E., Hewson, Sheila A., Kelly, Edmond N., Lee, Shoo K., Matthews, Stephen G., Ohlsson, Arne, Ross, Sue, Rovet, Joanne, Saigal, Saroj, Sananes, Renee, Schmid, Isabelle, Willan, Andrew R., Kwiatkowski, Leonardo, Tortorella, Susana Marisa, Bertin, Marta Susana, Castaldi, José Luis, Deguer, Carlos, Klun, Milton, Besegato, Cintia, Izbizky, Gustavo, Vaneri, Maria Cristina, Fustinana, Carlos Alberto, Otano, Lucas, Palermo, Mario S.F., Murua, Emerson Javier, Valera, Dolores Montes, Sampietro, Hector, Monaco, Antonio, Savransky, Argentina Ricardo, Dunaiewsky, Armando, Basualdo, Maria Natalia, Andina, Elsa, Di Marco, Ingrid, Rivero, Mabel, Feu, Maria Celeste, Garcia, Sergio, Aguirre, Jesus Daniel, Morales, Elba Mirta, Ayala, Liana Elisa, De Sagastizabal, Maria Teresa, Abreo, Griselda, Uranga, Alfredo, Martin, Raquel de Lourdes, Arias, Carlos, Gorostiaga, Raul Abalos, Curioni, Miguel, Alvarado, Jorge, Fuchtner, Carlos, Flores, Desiree Mostajo, Tonoli Tessari, Dilma Maria, Madi, Jose Mauro, de Lorenzi, Dino Roberto Soares, Mattana, Maria do Carmo, Brunstein, Carla, Trapani, Alberto, Schmaltz, Luiza, de Souza, Goianice Ribero, de Assis, Maria Elaine, Melo Melgaco, Irene Angela, Moreira de Sa, Renato Augusto, Bornia, Rita Guerios, Demianczuk, Nestor N, Penttinen, Elizabeth, Butt, Kimberly, Hay, Kathryn, Sandwich, Vicki, Armson, B Anthony, Vincer, Michael, Allen, Victoria, Fanning, Cora, Kulkarni, Ramesh, Laplante, Joanne, Carson, George D, Williams, Suzanne, Holfeld, Sandy, Olatunbosun, Femi, Dalton, Shirley, Henry, April, Haughian, Janna, Moutquin, Jean-Marie, Blouin, Daniel, Bédard, Suzanne Kocsis, Murphy, Kellie, Ohlsson, Arne, Kelly, Edmond, Jordan, Anne, Shapiro, Jodi, Asztalos, Elizabeth, Barrett, Jon, Cohen, Howard, Andrews, Leigh, Owen, Holly, Delisle, Marie-France, Popovska, Vesna, Soanes, Shelley, Helewa, Michael E, Kenny-Lodewyks, Doris, Gomez, Ricardo, Silva, Karla, Poblete, Jorge Figueroa, Ferrand, Pedro, Belmar, Cristian, Vera, Claudio, Su, Qi Feng, Gu, Wei, Liu, Zhi Wei, Flores, Martha Marrugo, Santoro, Carlos Malabet, Ortiz, Edgar Ivan, Torres, Javier, Rodriguez, Adriana, Hvidman, Lone, Mouritzen, Anne, Vikre-Jørgensen, Jennifer, Hopp, Hartmut, Nonnenmacher, Andreas, Braig, Ute, Berg, Christoph, Bizjak, Gabriele, Gembruch, Ulrich, Schwarzer, Verena, Hoyme, U B, Bittrich, Hans-Jorg, Oletzky, Britta, Schneider, Joachim, Hollwitz, Bettina, Oehler, Katrin, Dressler, Frank, Ertan, A Kubilay, Hentschel, Juliane, Mack, Annegret, Schmidt, W., Faber, Renaldo, Stepan, Holger, Kuhnert, Maritta, Stiller, Susanne, Kuschel, Bettina, Schneider, K.T.M., Zimmermann, Andrea, Krause, Michael, Gröbe, H, Terzioglu, Neslisah, Seelbach-Goebel, Birgit, Falkert, Andreas, Mueller, Karin, Voss, Hana, Major, Tamas, Zoärd, Krasznai, Bartha, Tünde, Bea, Polonkai, Zsadänyi, Judit, Nachum, Zohar, Peniakov, Marina, Hallak, Mordechai, Harlev, Avraham, Harel, Linda, Chayen, Benny, Siev, Sima, Samberg, Ichel, Wolff, Leslie, Sadan, Oscar, Elyassi, Anat, Baider, Carolina, Kohelet, David, Golan, Abraham, Mankuta, David, Bar-Oz, Benjamin, Combs, Danielle, Rosen, Doron J.D., Kaneti, Hagai Y., Tzachi, Tal, Zausmer, Janice, Maman, Maor, Perri, Tamar, Taitelboum, Shani, Simchen, Michal, Shalev, Gilat, Goldinfeld, Michael, Levine, Orit, El-Zibdeh, Mazen Y, Al-Faris, Lama T, Ayyash, Hussein A, Ugarte, Pedro Saona, Preis, Krzysztof, Domzalska-Popadiuk, Iwona, Swiatkowska-Freund, Malgorzata, Janczewska, Iwona, Wilczynski, Jan, Krekora, Michael, Kesiak, Marcin, Gulczynska, Ewa, Ropacka, Mariola, Madejczyk, Mateusz, Rozycka, Joanna, Breborowicz, Grzegorz H, Szymankiewicz, Marta, Borzova, Nadezhda, Posiseeva, Lubov V, Khodjaeva, Zulfiya, Vikhlyaeva, Ekaterina, Palacio, Montse, Salvia, Dolors, Botet, Francesc, Massanes, Marta, Lopez, Marta, Hösli, Irene, Holzgreve, Wolfgang, Voekt, Cora A., Belhia, Fadhil, Hohlfeld, Patrick, Prince-dit-Clottu, Edmond, Beinder, Ernst, von Mandach, Ursula, Fauchere, Jean-Claude, Roumen, Frans J.M.E., Pieters, Mijntje, Smits, Frans, Bolaji, Ibrahim I, Adiotomre, Pauline, Al-Taher, Hamed, Barnes, Hayley, Abdul-Kadir, Rezan, Chi, Claudia, Van Someren, Vivienne, Dexter, Scott, Samelson, Renee, Horgan, Michael J, Valentini, Cathryn, Pardanani, Setul, Bebbington, Michael, Chazotte, Cynthia, Kilpatrick, Sarah, Drahos, Jessica L., Saldana, Luis, Mount, Beverly, Warner, Barbara, Wedig, Kathy, Lysikiewicz, Andrzej, Bsat, Fadi, Fleming, Jennie, Lee, Alison, Hoffman, Despina, Bracken, Michael, Crowley, Patricia, Donner, Allan, Duley, Lelia, Tyson, Jon

Publikováno v: Journal of Obstetrics and Gynaecology Canada; September 2011, Vol. 33 Issue: 9 p909-921, 13p

Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy.

Autor: Feldkötter M; Institute of Human Genetics, University Clinic, Rheinische Friedrich-Wilhelms University Bonn, Bonn, Germany., Schwarzer V, Wirth R, Wienker TF, Wirth B

Publikováno v: American journal of human genetics [Am J Hum Genet] 2002 Feb; Vol. 70 (2), pp. 358-68. Date of Electronic Publication: 2001 Dec 21.