SAMD9 and SAMD9L in inherited predisposition to ataxia, pancytopenia, and myeloid malignancies

por Davidsson, Josef, Puschmann, Andreas, Tedgård, Ulf, Bryder, David, Nilsson, Lars, Cammenga, Jörg
Publicado 2018

Ataxia-pancytopenia syndrome with SAMD9L mutations

por Gorcenco, Sorina, Komulainen-Ebrahim, Jonna, Nordborg, Karin, Suo-Palosaari, Maria, Andréasson, Sten, Krüger, Johanna, Nilsson, Christer, Kjellström, Ulrika, Rahikkala, Elisa, Turkiewicz, Dominik, Karlberg, Mikael, Nilsson, Lars, Cammenga, Jörg, Tedgård, Ulf, Davidsson, Josef, Uusimaa, Johanna, Puschmann, Andreas
Publicado 2017

Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7

por Pastor, Victor B., Sahoo, Sushree S., Boklan, Jessica, Schwabe, Georg C., Saribeyoglu, Ebru, Strahm, Brigitte, Lebrecht, Dirk, Voss, Matthias, Bryceson, Yenan T., Erlacher, Miriam, Ehninger, Gerhard, Niewisch, Marena, Schlegelberger, Brigitte, Baumann, Irith, Achermann, John C., Shimamura, Akiko, Hochrein, Jochen, Tedgård, Ulf, Nilsson, Lars, Hasle, Henrik, Boerries, Melanie, Busch, Hauke, Niemeyer, Charlotte M., Wlodarski, Marcin W.
Publicado 2018

P1427: RARE ANAEMIA DISORDERS EUROPEAN EPIDEMIOLOGICAL PLATFORM (RADEEP): DISTRIBUTION OF PATIENTS AFFECTED BY RADS IN EUROPE

por Solórzano González, José Martín, Reidel, Sara Isabel, Labidi, Ines, Diot Lefebvre, Claire, Tamana, Stella, Gutierrez Valle, Victoria, van Beers, Eduard, Colombatti, Raffaella, Bianchi, Paola, Brunetta, Angelo Loris, Peereboom, Dore, Galactéros, Frédéric, Russo, Giovanna, Kattamis, Antonis, Dedeken, Laurence, Kunz, Joachim, Cela, Elena, Bento, Celeste, Tedgard, Ulf, Glenthøj, Andreas, Christou, Soteroula, Kleanthous, Marina, Kountouris, Petros, Gulbis, Beatrice, Mar Mañú Pereira, Maria Del
Publicado 2023

A novel 33‐Gene targeted resequencing panel provides accurate, clinical‐grade diagnosis and improves patient management for rare inherited anaemias

por Roy, Noémi B. A., Wilson, Edward A., Henderson, Shirley, Wray, Katherine, Babbs, Christian, Okoli, Steven, Atoyebi, Wale, Mixon, Avery, Cahill, Mary R., Carey, Peter, Cullis, Jonathan, Curtin, Julie, Dreau, Helene, Ferguson, David J. P., Gibson, Brenda, Hall, Georgina, Mason, Joanne, Morgan, Mary, Proven, Melanie, Qureshi, Amrana, Sanchez Garcia, Joaquin, Sirachainan, Nongnuch, Teo, Juliana, Tedgård, Ulf, Higgs, Doug, Roberts, David, Roberts, Irene, Schuh, Anna
Publicado 2016

Genome-Wide Association Meta-Analysis of Single-Nucleotide Polymorphisms and Symptomatic Venous Thromboembolism during Therapy for Acute Lymphoblastic Leukemia and Lymphoma in Cauc...

por Mateos, Marion K., Tulstrup, Morten, Quinn, Michael CJ, Tuckuviene, Ruta, Marshall, Glenn M., Gupta, Ramneek, Mayoh, Chelsea, Wolthers, Benjamin O., Barbaro, Pasquale M., Ruud, Ellen, Sutton, Rosemary, Huttunen, Pasi, Revesz, Tamas, Trakymiene, Sonata S., Barbaric, Draga, Tedgård, Ulf, Giles, Jodie E., Alvaro, Frank, Jonsson, Olafur G., Mechinaud, Françoise, Saks, Kadri, Catchpoole, Daniel, Kotecha, Rishi S., Dalla-Pozza, Luciano, Chenevix-Trench, Georgia, Trahair, Toby N., MacGregor, Stuart, Schmiegelow, Kjeld
Publicado 2020