Zobrazeno 1 - 10
of 69
pro vyhledávání: '"Bianca, Tesi"'
Autor:
Panagiotis Baliakas, Bianca Tesi, Jörg Cammenga, Asbjørg Stray‐Pedersen, Kirsi Jahnukainen, Mette Klarskov Andersen, Helena Ågerstam, Maria Creignou, Ingunn Dybedal, Klas Raaschou‐Jensen, Kirsten Grønbæk, Outi Kilpivaara, Eva Hellström Lindberg, Ulla Wartiovaara‐Kautto
Publikováno v:
HemaSphere, Vol 8, Iss 8, Pp n/a-n/a (2024)
Abstract Increasing recognition of germline DDX41 variants in patients with hematological malignancies prompted us to provide DDX41‐specific recommendations for diagnosis, surveillance, and treatment. Causative germline variants in the DDX41 predis
Externí odkaz:
https://doaj.org/article/48ac9b34b8014e978388be0b40d5d24b
Autor:
Hannes Lindahl, Eva Svensson, Annika Danielsson, Andreas Puschmann, Per Svenningson, Bianca Tesi, Martin Paucar
Publikováno v:
Heliyon, Vol 10, Iss 4, Pp e26073- (2024)
Ataxia telangiectasia (A-T), caused by biallelic variants in the ATM gene, is a multisystemic and severe syndrome characterized by progressive ataxia, telangiectasia, hyperkinesia, immunodeficiency, increased risk of malignancy, and typically death b
Externí odkaz:
https://doaj.org/article/fc6eb750537c4d41a036bbb5a443af7d
Autor:
Bianca Tesi, Anna Eriksson, Berivan Baskin, Vladimir Lazarevic, Stefan Deneberg, Martin Höglund, Linda Fogelstrand, Johanna Ungerstedt, Tatjana Pandzic, Magnus Tobiasson, Hege Gravdahl Garelius, Ekaterina Kuchinskaya, Fredrik Persson, Helena Ågerstam, Bertil Uggla, Helene Hallböök, Thoas Fioretos, Ann-Charlotte Thuresson, Sören Lehmann, Claes Ladenvall, Gisela Barbany, Lovisa Vennström, Elisabeth Ejerblad, Lucia Cavelier, Jörg Cammenga, Martin Jädersten, Eva Hellström Lindberg, Panagiotis Baliakas
Publikováno v:
HemaSphere, Vol 7, p e790629d (2023)
Externí odkaz:
https://doaj.org/article/f209dfa4a99d4653aded3f56d2a1befe
Autor:
Carolina Maya-González, Sandra Wessman, Kristina Lagerstedt-Robinson, Fulya Taylan, Bianca Tesi, Ekaterina Kuchinskaya, W. Glenn McCluggage, Anna Poluha, Stefan Holm, Ricard Nergårdh, Teresita Díaz De Ståhl, Charlotte Höybye, Giorgio Tettamanti, Angelica Maria Delgado-Vega, Anna Skarin Nordenvall, Ann Nordgren
Publikováno v:
Frontiers in Medicine, Vol 10 (2023)
Prader-Willi syndrome (PWS) is a rare disease caused by a lack of expression of inherited imprinted genes in the paternally derived Prader-Willi critical region on chromosome 15q11.2-q13. It is characterized by poor feeding and hypotonia in infancy,
Externí odkaz:
https://doaj.org/article/4621862bc38343c7ac090d169ff55210
Autor:
Henrik Stranneheim, Kristina Lagerstedt-Robinson, Måns Magnusson, Malin Kvarnung, Daniel Nilsson, Nicole Lesko, Martin Engvall, Britt-Marie Anderlid, Henrik Arnell, Carolina Backman Johansson, Michela Barbaro, Erik Björck, Helene Bruhn, Jesper Eisfeldt, Christoph Freyer, Giedre Grigelioniene, Peter Gustavsson, Anna Hammarsjö, Maritta Hellström-Pigg, Erik Iwarsson, Anders Jemt, Mikael Laaksonen, Sara Lind Enoksson, Helena Malmgren, Karin Naess, Magnus Nordenskjöld, Mikael Oscarson, Maria Pettersson, Chiara Rasi, Adam Rosenbaum, Ellika Sahlin, Eliane Sardh, Tommy Stödberg, Bianca Tesi, Emma Tham, Håkan Thonberg, Virpi Töhönen, Ulrika von Döbeln, Daphne Vassiliou, Sofie Vonlanthen, Ann-Charlotte Wikström, Josephine Wincent, Ola Winqvist, Anna Wredenberg, Sofia Ygberg, Rolf H. Zetterström, Per Marits, Maria Johansson Soller, Ann Nordgren, Valtteri Wirta, Anna Lindstrand, Anna Wedell
Publikováno v:
Genome Medicine, Vol 13, Iss 1, Pp 1-15 (2021)
Abstract Background We report the findings from 4437 individuals (3219 patients and 1218 relatives) who have been analyzed by whole genome sequencing (WGS) at the Genomic Medicine Center Karolinska-Rare Diseases (GMCK-RD) since mid-2015. GMCK-RD repr
Externí odkaz:
https://doaj.org/article/24239a4e507a406db912b81371637d5d
Autor:
Sofia Frisk, Alexandra Wachtmeister, Tobias Laurell, Anna Lindstrand, Nina Jäntti, Helena Malmgren, Kristina Lagerstedt‐Robinson, Bianca Tesi, Fulya Taylan, Ann Nordgren
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 4, Pp n/a-n/a (2022)
Abstract Background De novo variants are a common cause to rare intellectual disability syndromes, associated with low recurrence risk. However, when such variants occur pre‐zygotically in parental germ cells, the recurrence risk might be higher. S
Externí odkaz:
https://doaj.org/article/d92f1dcc8f8747edad52176180df7ee1
Autor:
Nina K. Serwas, Birgit Hoeger, Rico C. Ardy, Sigrun V. Stulz, Zhenhua Sui, Nima Memaran, Marie Meeths, Ana Krolo, Özlem Yüce Petronczki, Laurène Pfajfer, Tie Z. Hou, Neil Halliday, Elisangela Santos-Valente, Artem Kalinichenko, Alan Kennedy, Emily M. Mace, Malini Mukherjee, Bianca Tesi, Anna Schrempf, Winfried F. Pickl, Joanna I. Loizou, Renate Kain, Bettina Bidmon-Fliegenschnee, Jean-Nicolas Schickel, Salomé Glauzy, Jakob Huemer, Wojciech Garncarz, Elisabeth Salzer, Iro Pierides, Ivan Bilic, Jens Thiel, Peter Priftakis, Pinaki P. Banerjee, Elisabeth Förster-Waldl, David Medgyesi, Wolf-Dietrich Huber, Jordan S. Orange, Eric Meffre, David M. Sansom, Yenan T. Bryceson, Amnon Altman, Kaan Boztug
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-15 (2019)
CTLA-4 is critical for balancing protective immunity with self-tolerance. Here the authors identify homozygous DEF6 mutations in patients with severe autoimmunity, one of which received and responds to CTLA-4-Ig, and show that DEF6 is crucial for CTL
Externí odkaz:
https://doaj.org/article/2b28c1d1ae924d86a02c99db5aac2d80
Autor:
Donatella Galgano, Tayebeh Soheili, Matthias Voss, Lamberto Torralba-Raga, Bianca Tesi, Frank Cichocki, Isabelle Andre, Jens Rettig, Marina Cavazzana, Yenan Bryceson
Publikováno v:
Frontiers in Immunology, Vol 11 (2020)
Autosomal recessive mutations in genes required for cytotoxicity are causative of a life-threatening, early-onset hyperinflammatory syndrome termed familial hemophagocytic lymphohistiocytosis (FHL). Mutations in UNC13D cause FHL type 3. UNC13D encode
Externí odkaz:
https://doaj.org/article/69f9bb01c1a646f79fb2cac91f012148
Autor:
Panagiotis Baliakas, Bianca Tesi, Ulla Wartiovaara-Kautto, Asbjørg Stray-Pedersen, Lone Smidstrup Friis, Ingunn Dybedal, Randi Hovland, Kirsi Jahnukainen, Klas Raaschou-Jensen, Per Ljungman, Cecilie F. Rustad, Charlotte K. Lautrup, Outi Kilpivaara, Astrid Olsnes Kittang, Kirsten Grønbæk, Jörg Cammenga, Eva Hellström-Lindberg, Mette K. Andersen
Publikováno v:
HemaSphere, Vol 3, Iss 6, p e321 (2019)
Abstract. Myeloid neoplasms (MNs) with germline predisposition have recently been recognized as novel entities in the latest World Health Organization (WHO) classification for MNs. Individuals with MNs due to germline predisposition exhibit increased
Externí odkaz:
https://doaj.org/article/e012695ca5da41d3893550e56ca30089
Autor:
Jakob Theorell, Indre Bileviciute-Ljungar, Bianca Tesi, Heinrich Schlums, Mette Sophie Johnsgaard, Babak Asadi-Azarbaijani, Elin Bolle Strand, Yenan T. Bryceson
Publikováno v:
Frontiers in Immunology, Vol 10 (2019)
Externí odkaz:
https://doaj.org/article/7a6cb6760bf44338aabf25e028ce7f9d