Bone marrow failure syndrome caused by homozygous frameshift mutation in the ERCC6L2 gene
Järviaho, T., Halt, K., Hirvikoski, P., Moilanen, J., Möttönen, M., Niinimäki, R.
Published in Clinical genetics (01.02.2018)
Published in Clinical genetics (01.02.2018)
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Novel non‐neutral mitochondrial DNA mutations found in childhood acute lymphoblastic leukemia
Järviaho, T., Hurme‐Niiranen, A., Soini, H.K., Niinimäki, R., Möttönen, M., Savolainen, E.‐R., Hinttala, R., Harila‐Saari, A., Uusimaa, J.
Published in Clinical genetics (01.02.2018)
Published in Clinical genetics (01.02.2018)
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The clinical picture of ERCC6L2 disease: from bone marrow failure to acute leukemia
Hakkarainen, Marja, Kaaja, Ilse, Douglas, Suvi P. M., Vulliamy, Tom, Dokal, Inderjeet, Soulier, Jean, Larcher, Lise, Peffault de Latour, Régis, Leblanc, Thierry, Sicre de Fontbrune, Flore, Siitonen, Timo, Lohi, Olli, Hellström-Lindberg, Eva, Barbany, Gisela, Tesi, Bianca, Shimamura, Akiko, Beier, Fabian, Jackson, Sharon, Kuperman, Amir Asher, Falik Zaccai, Tzipora, Tamary, Hannah, Mecucci, Cristina, Capolsini, Ilaria, Jahnukainen, Kirsi, Salmenniemi, Urpu, Niinimäki, Riitta, Varilo, Teppo, Kilpivaara, Outi, Wartiovaara-Kautto, Ulla
Published in Blood (08.06.2023)
Published in Blood (08.06.2023)
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Gain-of-Function SAMD9L Mutations Cause a Syndrome of Cytopenia, Immunodeficiency, Myelodysplastic Syndrome and Neurological Symptoms
Tesi, B, Davidsson, J, Voss, M, Rahikkala, E, Holmes, T, Chiang, S, Komulainen-Ebrahim, J, Kokkonen, H, Bryder, D, Fioretos, T, Henter, J.I, Möttönen, M, Niinimäki, R, Nilsson, L, Pronk, C.J, Uusimaa, J, Moilanen, J, Tedgård, U, Cammenga, J, Bryceson, Y
Published in LEUKEMIA RESEARCH (2017)
Published in LEUKEMIA RESEARCH (2017)
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Conference Proceeding
Osteoporotic Fractures in Childhood Cancer Survivors - ALICCS Cohort Study
Oskarsson, T., Duun-Henriksen, A. K., Harila-Saari, A., Montgomery, Scott, Niinimaki, R., Madanat-Harjuoja, L., Tryggvadottir, L., Wesenberg, F., Holmqvist, A. S., Hasle, H., Heyman, M., Winther, J. F.
Published in PEDIATRIC BLOOD & CANCER (2018)
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Published in PEDIATRIC BLOOD & CANCER (2018)
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Conference Proceeding
Flow cytometric detection of leukemic blasts in cerebrospinal fluid predicts risk of relapse in childhood acute lymphoblastic leukemia: a Nordic Society of Pediatric Hematology and Oncology study
Thastrup, Maria, Marquart, Hanne Vibeke, Levinsen, Mette, Grell, Kathrine, Abrahamsson, Jonas, Albertsen, Birgitte Klug, Frandsen, Thomas Leth, Harila-Saari, Arja, Lähteenmäki, Päivi Maria, Niinimäki, Riitta, Pronk, Cornelis Jan, Ulvmoen, Aina, Vaitkevičienė, Goda, Taskinen, Mervi, Schmiegelow, Kjeld
Published in Leukemia (01.02.2020)
Published in Leukemia (01.02.2020)
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Central Nervous System Involvement Detected By Flow Cytometry Is a Risk Factor for Relapse in Childhood Acute Lymphoblastic Leukemia
Thastrup, Maria, Marquart, Hanne Vibeke, Levinsen, Mette, Grell, Kathrine, Abrahamsson, Jonas, Albertsen, Birgitte Klug, Frandsen, Thomas Leth, Harila-Saari, Arja, Lähteenmäki, Päivi Maria, Niinimäki, Riitta, Pronk, Cornelis Jan, Ulvmoen, Aina, Vaitkeviciene, Goda, Taskinen, Mervi, Schmiegelow, Kjeld
Published in Blood (29.11.2018)
Published in Blood (29.11.2018)
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Conference Proceeding
21 - Gain-of-Function SAMD9L Mutations Cause a Syndrome of Cytopenia, Immunodeficiency, Myelodysplastic Syndrome and Neurological Symptoms
Tesi, B., Davidsson, J., Voss, M., Rahikkala, E., Holmes, T., Chiang, S., Komulainen-Ebrahim, J., Kokkonen, H., Bryder, D., Fioretos, T., Henter, J.I., Möttönen, M., Niinimäki, R., Nilsson, L., Pronk, C.J., Uusimaa, J., Moilanen, J., Tedgård, U., Cammenga, J., Bryceson, Y.
Published in Leukemia research (01.04.2017)
Published in Leukemia research (01.04.2017)
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Erratum
Egnell, C, Heyman, M, Jonsson, OG, Raja, RA, Niinimaki, R, Albertsen, BK
Published in British journal of haematology (2022)
Published in British journal of haematology (2022)
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Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms
Tesi, Bianca, Davidsson, Josef, Voss, Matthias, Rahikkala, Elisa, Holmes, Tim D., Chiang, Samuel C.C., Komulainen-Ebrahim, Jonna, Gorcenco, Sorina, Rundberg Nilsson, Alexandra, Ripperger, Tim, Kokkonen, Hannaleena, Bryder, David, Fioretos, Thoas, Henter, Jan-Inge, Möttönen, Merja, Niinimäki, Riitta, Nilsson, Lars, Pronk, Cornelis Jan, Puschmann, Andreas, Qian, Hong, Uusimaa, Johanna, Moilanen, Jukka, Tedgård, Ulf, Cammenga, Jörg, Bryceson, Yenan T.
Published in Blood (20.04.2017)
Published in Blood (20.04.2017)
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Obesity as a predictor of treatment‐related toxicity in children with acute lymphoblastic leukaemia
Egnell, Christina, Heyman, Mats, Jónsson, Ólafur Gisli, Raja, Raheel A., Niinimäki, Riitta, Albertsen, Birgitte Klug, Schmiegelow, Kjeld, Stabell, Niklas, Vaitkeviciene, Goda, Lepik, Kristi, Harila‐Saari, Arja, Ranta, Susanna
Published in British journal of haematology (01.03.2022)
Published in British journal of haematology (01.03.2022)
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Previous cancers in women diagnosed with premature ovarian insufficiency: A nationwide population‐based case–control study
Silvén, Heidi, Savukoski, Susanna M., Pesonen, Paula, Niinimäki, Riitta, Pukkala, Eero, Gissler, Mika, Suvanto, Eila, Niinimäki, Maarit
Published in Acta obstetricia et gynecologica Scandinavica (01.05.2024)
Published in Acta obstetricia et gynecologica Scandinavica (01.05.2024)
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Radiological follow‐up of osteonecrosis lesions in children and adolescents with Hodgkin lymphoma
Aarnivala, Henri, Giertz, Mia, Michelsen, Sascha Wilk, Björklund, Caroline, Englund, Annika, Grönroos, Marika, Hjalgrim, Lisa Lyngsie, Huttunen, Pasi, Niinimäki, Tuukka, Penno, Eva, Pokka, Tytti, Pöyhönen, Tuuli, Raittinen, Päivi, Ranta, Susanna, Svahn, Johan E., Törnudd, Lisa, Harila, Arja, Niinimäki, Riitta
Published in British journal of haematology (03.08.2024)
Published in British journal of haematology (03.08.2024)
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Skeletal adverse events in childhood cancer survivors: An Adult Life after Childhood Cancer in Scandinavia cohort study
Oskarsson, Trausti, Duun‐Henriksen, Anne Katrine, Bautz, Andrea, Montgomery, Scott, Harila‐Saari, Arja, Petersen, Cecilia, Niinimäki, Riitta, Madanat‐Harjuoja, Laura, Tryggvadóttir, Laufey, Holmqvist, Anna Sällfors, Hasle, Henrik, Heyman, Mats, Winther, Jeanette Falck
Published in International journal of cancer (01.12.2021)
Published in International journal of cancer (01.12.2021)
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Symptomatic osteonecrosis in children treated for Hodgkin lymphoma: A population‐based study in Sweden, Finland, and Denmark
Giertz, Mia, Aarnivala, Henri, Wilk Michelsen, Sascha, Björklund, Caroline, Englund, Annika, Grönroos, Marika, Hjalgrim, Lisa Lyngsie, Huttunen, Pasi, Niinimäki, Tuukka, Penno, Eva, Pöyhönen, Tuuli, Raittinen, Päivi, Ranta, Susanna, Svahn, Johan E., Törnudd, Lisa, Niinimäki, Riitta, Harila, Arja
Published in Pediatric blood & cancer (14.08.2024)
Published in Pediatric blood & cancer (14.08.2024)
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Multinational Study on the Clinical and Genetic Features of the ERCC6L2-Disease
Hakkarainen, Marja, Douglas, Suvi P.M., Vulliamy, Tom, Dokal, Inderjeet, Soulier, Jean, Larcher, Lise, Niinimäki, Riitta, Siitonen, Timo, Hellstrom Lindberg, Eva, Barbany, Gisela, Tesi, Bianca, Kuperman, Amir Asher, Tamary, Hannah, Jackson, Sharon, Kilpivaara, Outi, Wartiovaara-Kautto, Ulla
Published in BLOOD (23.11.2021)
Published in BLOOD (23.11.2021)
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Conference Proceeding
Changes in body mass index during treatment of childhood acute lymphoblastic leukemia with the Nordic ALL2008 protocol
Egnell, Christina, Närhinen, Hanna, Merker, Andrea, Jonsson, Ólafur G., Lepik, Kristi, Niinimäki, Riitta, Schmiegelow, Kjeld, Stabell, Niklas, Klug Albertsen, Birgitte, Vaitkeviciene, Goda, Ranta, Susanna, Harila‐Saari, Arja
Published in European journal of haematology (01.12.2022)
Published in European journal of haematology (01.12.2022)
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