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Page 1
Nordic Guidelines for Germline Predisposition to Myeloid Neoplasms in Adults: Recommendations for Genetic Diagnosis, Clinical Management and Follow-up.
Baliakas P, Tesi B, Wartiovaara-Kautto U, Stray-Pedersen A, Friis LS, Dybedal I, Hovland R, Jahnukainen K, Raaschou-Jensen K, Ljungman P, Rustad CF, Lautrup CK, Kilpivaara O, Kittang AO, Grønbæk K, Cammenga J, Hellström-Lindberg E, Andersen MK. Baliakas P, et al. Among authors: tesi b. Hemasphere. 2019 Nov 4;3(6):e321. doi: 10.1097/HS9.0000000000000321. eCollection 2019 Dec. Hemasphere. 2019. PMID: 31976490 Free PMC article.
Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms.
Tesi B, Davidsson J, Voss M, Rahikkala E, Holmes TD, Chiang SCC, Komulainen-Ebrahim J, Gorcenco S, Rundberg Nilsson A, Ripperger T, Kokkonen H, Bryder D, Fioretos T, Henter JI, Möttönen M, Niinimäki R, Nilsson L, Pronk CJ, Puschmann A, Qian H, Uusimaa J, Moilanen J, Tedgård U, Cammenga J, Bryceson YT. Tesi B, et al. Blood. 2017 Apr 20;129(16):2266-2279. doi: 10.1182/blood-2016-10-743302. Epub 2017 Feb 15. Blood. 2017. PMID: 28202457 Free PMC article.
The clinical picture of ERCC6L2 disease: from bone marrow failure to acute leukemia.
Hakkarainen M, Kaaja I, Douglas SPM, Vulliamy T, Dokal I, Soulier J, Larcher L, Peffault de Latour R, Leblanc T, Sicre de Fontbrune F, Siitonen T, Lohi O, Hellström-Lindberg E, Barbany G, Tesi B, Shimamura A, Beier F, Jackson S, Kuperman AA, Falik Zaccai T, Tamary H, Mecucci C, Capolsini I, Jahnukainen K, Salmenniemi U, Niinimäki R, Varilo T, Kilpivaara O, Wartiovaara-Kautto U. Hakkarainen M, et al. Among authors: tesi b. Blood. 2023 Jun 8;141(23):2853-2866. doi: 10.1182/blood.2022019425. Blood. 2023. PMID: 36952636 Free article.
Integrated Genomic and Transcriptomic Analysis Improves Disease Classification and Risk Stratification of MDS with Ring Sideroblasts.
Todisco G, Creignou M, Bernard E, Björklund AC, Moura PL, Tesi B, Mortera-Blanco T, Sander B, Jansson M, Walldin G, Barbosa I, Reinsbach SE, Hofman IJ, Nilsson C, Yoshizato T, Dimitriou M, Chang D, Olafsdottir S, Venckute Larsson S, Tobiasson M, Malcovati L, Woll P, Jacobsen SEW, Papaemmanuil E, Hellström-Lindberg E. Todisco G, et al. Among authors: tesi b. Clin Cancer Res. 2023 Oct 13;29(20):4256-4267. doi: 10.1158/1078-0432.CCR-23-0538. Clin Cancer Res. 2023. PMID: 37498312 Free PMC article.
Register-based and genetic studies of Prader-Willi syndrome show a high frequency of gonadal tumors and a possible mechanism for tumorigenesis through imprinting relaxation.
Maya-González C, Wessman S, Lagerstedt-Robinson K, Taylan F, Tesi B, Kuchinskaya E, McCluggage WG, Poluha A, Holm S, Nergårdh R, Díaz De Ståhl T, Höybye C, Tettamanti G, Delgado-Vega AM, Skarin Nordenvall A, Nordgren A. Maya-González C, et al. Among authors: tesi b. Front Med (Lausanne). 2023 Jul 28;10:1172565. doi: 10.3389/fmed.2023.1172565. eCollection 2023. Front Med (Lausanne). 2023. PMID: 37575996 Free PMC article.
Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis.
Tesi B, Lagerstedt-Robinson K, Chiang SC, Ben Bdira E, Abboud M, Belen B, Devecioglu O, Fadoo Z, Yeoh AE, Erichsen HC, Möttönen M, Akar HH, Hästbacka J, Kaya Z, Nunes S, Patiroglu T, Sabel M, Saribeyoglu ET, Tvedt TH, Unal E, Unal S, Unuvar A, Meeths M, Henter JI, Nordenskjöld M, Bryceson YT. Tesi B, et al. Genome Med. 2015 Dec 18;7:130. doi: 10.1186/s13073-015-0244-1. Genome Med. 2015. PMID: 26684649 Free PMC article.
61 results