Copy number variation in pituitary stalk interruption syndrome: A large case series of sporadic non‐syndromic patients and literature review von Correa‐Silva, Silvia R., Kunii, Ilda, Mitne‐Neto, Miguel, Moreira, Caroline M., Dias‐da‐Silva, Magnus R., Abucham, Julio

Volltext

A novel GNRHR gene mutation causing congenital hypogonadotrophic hypogonadism in a Brazilian kindred von Correa‐Silva, Silvia Regina, Fausto, Jessica da Silva, Kizys, Marina Malta Letro, Filipelli, Rafael, Marco Antonio, David Santos, Oku, Andre Yuji, Furuzawa, Gilberto Koiti, Orchard, Eugenia Verônica Hernandez, Costa‐Barbosa, Flavia Amanda, Mitne‐Neto, Miguel, Dias‐da‐Silva, Magnus R.

Volltext

A Mutation in the Vesicle-Trafficking Protein VAPB Causes Late-Onset Spinal Muscular Atrophy and Amyotrophic Lateral Sclerosis von Nishimura, Agnes L., Mitne-Neto, Miguel, Silva, Helga C.A., Richieri-Costa, Antônio, Middleton, Susan, Cascio, Duilio, Kok, Fernando, Oliveira, João R.M., Gillingwater, Tom, Webb, Jeanette, Skehel, Paul, Zatz, Mayana

Volltext

Downregulation of VAPB expression in motor neurons derived from induced pluripotent stem cells of ALS8 patients von MITNE-NETO, Miguel, MACHADO-COSTA, Marcela, MUOTRI, Alysson R, ZATZ, Mayana, MARCHETTO, Maria C. N, BENGTSON, Mario H, JOAZEIRO, Claudio A, TSUDA, Hiroshi, BELLEN, Hugo J, SILVA, Helga C. A, OLIVEIRA, Acary S. B, LAZAR, Monize

Volltext

Evaluation of pathogenic variants detected in high homology regions of the PMS2 gene. How effective is long-range PCR? von Paixão, Daniele, Lima, Thalitta Hetamaro Ayala, de Souza, Rafaela Rogério Floriano, Carnavalli, Juliana Emilia Prior, Picanço-Albuquerque, Clarissa Gondim, Silva-Fernandes, Isabelle Joyce de Lima, de Barros Silva, Paulo Goberlânio, Mitne-Neto, Miguel, Moreira, Caroline Mônaco, Baratela, Wagner Antônio da Rosa

Volltext

P434: Evaluation of monoallelic MUTYH variants in Brazilian patients: Potential selection bias von Bueno, Larissa, Paixão, Daniele, Lima, Thalitta, Carnavalli, Juliana, Kiss, Andrea, Moreira, Caroline, Mitne-Neto, Miguel, Baratela, Wagner

Volltext

P501: Pathogenic variants detected in high homology segments of the PMS2 gene in a Brazilian sample von Lima, Thalitta, Paixão, Daniele, Bueno, Larissa, Sousa, Rafaela, Carnavalli, Juliana, Bezerra, Maria Júlia, Bitencourt, Flavio, Luciano, Maria Claudia, Sant'ana, Rosane, Moreira, Caroline, Baratela, Wagner, Mitne-Neto, Miguel

Volltext

P075: Evaluation of PMS2 gene variant c.2182_2184delinsG by NGS in a Brazilian sample: How long-range PCR can solve homology? von Paixão, Daniele, Lima, Thalitta Hetamaro Ayala, Bueno, Larissa Souza Mario, de Souza, Rafaela Rogério Floriano, Carnavalli, Juliana Emilia Prior, Picanço-Albuquerque, Clarissa Gondim, de Lima Silva-Fernandes, Isabelle Joyce, de Barros Silva, Paulo Goberlânio, Mitne-Neto, Miguel, da Rosa Baratela, Wagner Antônio, Moreira, Caroline Mônaco

Volltext

JAK2 -mutated acute myeloid leukemia: comparison of next-generation sequencing (NGS) and single nucleotide polymorphism array (SNPa) findings between two cases von de Noronha, Thiago Rodrigo, Mitne-Neto, Miguel, Chauffaille, Maria de Lourdes

Volltext

Development and validation of a variant detection workflow for BRCA1 and BRCA2 genes and its clinical application based on the Ion Torrent technology von Buzolin, Ana Lígia, Moreira, Caroline Mônaco, Sacramento, Patricia Rossi, Oku, Andre Yuji, Fornari, Alexandre Ricardo Dos Santos, Antonio, David Santos Marco, Quaio, Caio Robledo D Angioli Costa, Baratela, Wagner Rosa, Mitne-Neto, Miguel

Volltext

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene von Kenna, Kevin P., Chia, Ruth, Dominov, Janice A., Nalls, Mike A., van Vugt, Joke J.F.A., Simone, Isabella, Caredda, Carla, Milia, Antonio, Floris, Gianluca, Caponnetto, Claudia, Mandich, Paola, Mora, Gabriele, Sideri, Riccardo, Penco, Silvana, Mandrioli, Jessica, Trojsi, Francesca, Ticca, Anna, Ortu, Enzo, Pugliatti, Maura, Benigni, Michele, Brunetti, Maura, Marrali, Giuseppe, Riva, Nilo, Conforti, Francesca L., Messina, Sonia, D’Alfonso, Sandra, Baloh, Robert H., Penny, Michelle, Moreno, Cristiane de Araujo Martins, Chung, Wendy K., Cirulli, Elizabeth T., Harris, Tim, Krueger, Brian J., Lasseigne, Brittany N., McKenna-Yasek, Diane, Myers, Richard M., Pulst, Stefan M., Raphael, Alya R., Rouleau, Guy A., Sapp, Peter C., Waite, Lindsay L., Wang, Quanli, Ostrow, Lyle W., Baas, Frank, Zaitlen, Noah, Hornstein, Eran, Patsopoulos, Nikolaos A., Kaye, Julia, Wyman, Stacia, LeNail, Alexander, Baxi, Emily, LeNail, Alex, Benatar, Michael, Hussain, Sumaira, Swenson, Andrea, Jackson, Carlayne, So, Yuen, Wuu, Joanne, Silani, Vincenzo, Fogh, Isabella, Cereda, Cristina, Ceroni, Mauro, Mazzini, Letizia, Maderna, Luca, Sorarù, Gianni, Bernard, Emilien, Laaksovirta, Hannu, McKenna-Yasek, Diane, Asress, Seneshaw, Al-Sarraj, Safa, Scholz, Sonja W., MacGowan, Daniel J.L., Kirby, Janine, Pioro, Erik P., Pamphlett, Roger, Dunckley, Travis L., Troncoso, Juan C., Moisse, Matthieu, Drory, Vivian E., Turner, Martin R., Blair, Ian P., de Carvalho, Mamede, Hide, Winston, Glass, Jonathan, Mill, Jonathan, Newhouse, Stephen, Pulit, Sara, Robberecht, Wim, Shaw, Pamela, van den Berg, Leonard, Williams, Kelly L., Zatz, Mayana, Rothstein, Jeffrey D., Simmons, Zachary, Van Damme, Philip, Sabatelli, Mario, Trojanowski, John Q., Brown, Robert H., Veldink, Jan H., Tienari, Pentti

Volltext

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology von Bakker, Mark K., van Vugt, Joke J. F. A., Hop, Paul J., Westra, Harm-Jan, Deelen, Patrick, Hannon, Eilis, Dolzhenko, Egor, Westeneng, Henk-Jan, Tazelaar, Gijs H. P., van Eijk, Kristel R., Kooyman, Maarten, Byrne, Ross P., Doherty, Mark, Heverin, Mark, Al Khleifat, Ahmad, Iacoangeli, Alfredo, Shatunov, Aleksey, Smith, Bradley N., Chandran, Siddharthan, Pal, Suvankar, Morrison, Karen E., Shaw, Pamela J., Hardy, John, Sendtner, Michael, Meyer, Thomas, Başak, Nazli, van der Kooi, Anneke J., Ratti, Antonia, Fogh, Isabella, Lauria, Giuseppe, Corti, Stefania, Sorarù, Gianni, Filosto, Massimiliano, Chiò, Adriano, Calvo, Andrea, Brunetti, Maura, Nefussy, Beatrice, Osmanovic, Alma, Lerner, Yossef, Gotkine, Marc, Bell, Shaughn, Vourc’h, Patrick, Corcia, Philippe, Salachas, François, Mora Pardina, Jesus S., Rojas-García, Ricardo, Ross, Jay P., Weishaupt, Jochen H., Brenner, David, Bensimon, Gilbert, Payan, Christine A. M., Saker-Delye, Safa, Wood, Nicholas W., Rademakers, Rosa, Lieb, Wolfgang, Olsen, Catherine M., Uitterlinden, Andre G., Hofman, Albert, Rietschel, Marcella, Traynor, Bryan J., Mitne Neto, Miguel, Cauchi, Ruben J., Gaur, Nayana, Ilse, Benjamin, Stubendorff, Beatrice, Witte, Otto W., Steinbach, Robert, Graff, Caroline, Ataulina, Anastasia, Rogelj, Boris, Koritnik, Blaž, Zidar, Janez, Ravnik-Glavač, Metka, Glavač, Damjan, Stević, Zorica, Drory, Vivian, Povedano, Monica, Blair, Ian P., Kiernan, Matthew C., Furlong, Sarah, Mathers, Susan, Nicholson, Garth A., Pamphlett, Roger, Rowe, Dominic B., Williams, Kelly L., Mather, Karen A., Sachdev, Perminder S., Wallace, Leanne, Pinto, Susana, Rouleau, Guy A., Breen, Gerome, Brown, Robert H., Andersen, Peter M., McRae, Allan F., Davey Smith, George, Gaunt, Tom R., Eberle, Michael A., Wray, Naomi R., Van Damme, Philip, Veldink, Jan H.

Volltext

Genome-wide identification of the genetic basis of amyotrophic lateral sclerosis von Zhang, Sai, Cooper-Knock, Johnathan, Weimer, Annika K., Shi, Minyi, Moll, Tobias, Marshall, Jack N.G., Harvey, Calum, Nezhad, Helia Ghahremani, Franklin, John, Souza, Cleide dos Santos, Ning, Ke, Wang, Cheng, Li, Jingjing, Dilliott, Allison A., Farhan, Sali, Elhaik, Eran, Pasniceanu, Iris, Livesey, Matthew R., Eitan, Chen, Hornstein, Eran, Kenna, Kevin P., Blair, Ian, Wray, Naomi R., Kiernan, Matthew, Mitne Neto, Miguel, Chio, Adriano, Cauchi, Ruben, Robberecht, Wim, van Damme, Philip, Corcia, Philippe, Couratier, Philippe, Hardiman, Orla, McLaughin, Russell, Gotkine, Marc, Drory, Vivian, Ticozzi, Nicola, Silani, Vincenzo, Veldink, Jan H., van den Berg, Leonard H., de Carvalho, Mamede, Mora Pardina, Jesus S., Povedano, Monica, Andersen, Peter, Weber, Markus, Başak, Nazli A., Al-Chalabi, Ammar, Shaw, Chris, Shaw, Pamela J., Morrison, Karen E., Landers, John E., Glass, Jonathan D., Veldink, Jan H., Ferraiuolo, Laura, Shaw, Pamela J., Snyder, Michael P.

Volltext

Copy number variation in pituitary stalk interruption syndrome: A large case series of sporadic non‐syndromic patients and literature review von Correa‐Silva, Silvia R., Kunii, Ilda, Mitne‐Neto, Miguel, Moreira, Caroline M., Dias‐da‐Silva, Magnus R., Abucham, Julio

Volltext

Method for definition of CIS - TRANS status in double CEBPA mutations von Mitne-Neto, Miguel, Moreira, Caroline Mônaco, Fraga, Ana Maria

Volltext

Different Donors Mesenchymal Stromal Cells Secretomes Reveal Heterogeneous Profile of Relevance for Therapeutic Use von Assoni, Amanda, Coatti, Giuliana, Valadares, Marcos C., Beccari, Melinda, Gomes, Juliana, Pelatti, Mayra, Mitne-Neto, Miguel, Carvalho, Valdemir M., Zatz, Mayana

Volltext

Additional Information Offered By Snpa in Myelodysplastic Syndromes with Excess Blasts (MDS-EB) and Future Perspectives von Noronha, Thiago R, Mitne-Neto, Miguel, Chauffaille, Maria L.

Volltext

Genetic risk factors and COVID-19 severity in Brazil: results from BRACOVID study von Pereira, Alexandre C, Bes, Taniela M, Velho, Mariliza, Marques, Emanuelle, Jannes, Cintia E, Valino, Karina R, Dinardo, Carla L, Costa, Silvia F, Duarte, Alberto J S, Santos, Alexandre R, Mitne-Neto, Miguel, Medina-Pestana, Jose, Krieger, Jose E

Volltext

Comprehensive analysis of advanced-stage solid tumors from TCGA reveal widespread variation of genomics evidence levels across cancer types von Weeraratne, Dilhan, Ferreira, Elisa Napolitano, Mitne Neto, Miguel, Huang, Hu, Brotman, David, Fraga, Ana Maria, Ramalho, Rodrigo Fernandes, Burger, Matheus, Felipe-Silva, Aloisio Souza, Snowdon, Jane

Volltext

Rare Variant Burden Analysis within Enhancers Identifies CAV1 as an ALS Risk Gene von Cooper-Knock, Johnathan, Zhang, Sai, Kenna, Kevin P., Moll, Tobias, Franklin, John P., Allen, Samantha, Nezhad, Helia Ghahremani, Iacoangeli, Alfredo, Yacovzada, Nancy Y., Eitan, Chen, Hornstein, Eran, Elhaik, Eran, Celadova, Petra, Bose, Daniel, Farhan, Sali, Fishilevich, Simon, Lancet, Doron, Morrison, Karen E., Shaw, Christopher E., Al-Chalabi, Ammar, Blair, Ian, Wray, Naomi, Kiernan, Matthew, Neto, Miguel Mitne, Chio, Adriano, Cauchi, Ruben, Robberecht, Wim, van Damme, Philip, Corcia, Phillippe, Couratier, Phillipe, Hardiman, Orla, McLaughlin, Russel, Gotkine, Marc, Drory, Vivan, Ticozzi, Nicola, Silani, Vincenzo, Veldink, Jan, van den Berg, Leonard, de Carvalho, Mamede, Pardina, Jesus Mora, Povedano, Monica, Andersen, Peter, Wber, Markus, Başak, Nazli, Al-Chalabi, Ammar, Shaw, Christopher, Shaw, Pamela, Morrison, Karen, Landers, John, Glass, Jonathan, Veldink, Jan H., Kirby, Janine, Snyder, Michael P., Shaw, Pamela J.

Volltext