A retrospective two centre study of Birt-Hogg-Dubé syndrome reveals a pathogenic founder mutation in FLCN in the Swedish population
Lagerstedt-Robinson, Kristina, Baranowska Körberg, Izabella, Tsiaprazis, Stefanos, Björck, Erik, Tham, Emma, Poluha, Anna, Hellström Pigg, Maritta, Paulsson-Karlsson, Ylva, Nordenskjöld, Magnus, Johansson-Soller, Maria, Aravidis, Christos
Published in PloS one (17.02.2022)
Published in PloS one (17.02.2022)
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Journal Article
Imprinting relaxation of an ovarian dysgerminoma in a patient with Prader-Willi syndrome
Gonzalez, CM, Wessman, S, Tesi, B, Taylan, F, McCluggage, G, Kuchinskaya, E, Poluha, A, Holm, S, Nargard, R, de Stahl, TD, Nord, DG, Lagerstedt, K, Nordgren, A
Published in EUROPEAN JOURNAL OF HUMAN GENETICS (2023)
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Published in EUROPEAN JOURNAL OF HUMAN GENETICS (2023)
Conference Proceeding
Diagnostic yield and short-term clinical implications of nationwide germline whole genome sequencing in 280 children with solid tumors
Tesi, B, Taylan, F, Lagerstedt-Robinson, K, Abel, F, Hellberg, M, de Stahl, TD, Wessman, S, Samuelsson, S, Henning, K, Frisk, T, Sabel, M, Vogt, H, Nyman, P, Giraud, G, Wille, J, Pronk, CJ, Nystrom, UN, Borssen, M, Fili, M, Stalhammar, G, Herold, N, Orrsjo, S, Poluha, A, Gonzalez, CM, Arvidsson, L, Rosen, A, Ekholm, K, Kuchinskaya, E, Hallbeck, AL, Shamikh, A, Mertens, F, Brandell, RR, Tham, E, Grillner, P, Sandgren, J, Ljungman, G, Nord, DG, Nordgren, A
Published in EUROPEAN JOURNAL OF HUMAN GENETICS (2024)
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Published in EUROPEAN JOURNAL OF HUMAN GENETICS (2024)
Conference Proceeding
Diagnostic yield and clinical impact of germline sequencing in children with CNS and extracranial solid tumors—a nationwide, prospective Swedish study
Tesi, Bianca, Robinson, Kristina Lagerstedt, Abel, Frida, Díaz de Ståhl, Teresita, Orrsjö, Sara, Poluha, Anna, Hellberg, Maria, Wessman, Sandra, Samuelsson, Sofie, Frisk, Tony, Vogt, Hartmut, Henning, Karin, Sabel, Magnus, Ek, Torben, Pal, Niklas, Nyman, Per, Giraud, Geraldine, Wille, Joakim, Pronk, Cornelis Jan, Norén-Nyström, Ulrika, Borssén, Magnus, Fili, Maria, Stålhammar, Gustav, Herold, Nikolas, Tettamanti, Giorgio, Maya-Gonzalez, Carolina, Arvidsson, Linda, Rosén, Anna, Ekholm, Katja, Kuchinskaya, Ekaterina, Hallbeck, Anna-Lotta, Nordling, Margareta, Palmebäck, Pia, Kogner, Per, Smoler, Gunilla Kanter, Lähteenmäki, Päivi, Fransson, Susanne, Martinsson, Tommy, Shamik, Alia, Mertens, Fredrik, Rosenquist, Richard, Wirta, Valtteri, Tham, Emma, Grillner, Pernilla, Sandgren, Johanna, Ljungman, Gustaf, Gisselsson, David, Taylan, Fulya, Nordgren, Ann
Published in The Lancet regional health. Europe (2024)
Published in The Lancet regional health. Europe (2024)
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Journal 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, Carolina, Wessman, Sandra, Lagerstedt-Robinson, Kristina, Taylan, Fulya, Tesi, Bianca, Kuchinskaya, Ekaterina, McCluggage, W Glenn, Poluha, Anna, Holm, Stefan, Nergårdh, Ricard, Díaz De Ståhl, Teresita, Höybye, Charlotte, Tettamanti, Giorgio, Delgado-Vega, Angelica Maria, Skarin Nordenvall, Anna, Nordgren, Ann
Published in Frontiers in medicine (2023)
Published in Frontiers in medicine (2023)
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Journal Article
Allelic loss of selected tumor suppressor genes in acute lymphoblastic leukemia in children
Studniak, E, Maloney, E, Ociepa, T, Urasiński, T, Skonieczka, K, Haus, O, Poluha, A, Kowalczyk, J, Zajączek, S
Published in Polish journal of pathology (01.06.2013)
Published in Polish journal of pathology (01.06.2013)
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Journal Article
NONWOVEN ABRASIVE ARTICLE INCLUDING ABRASIVE PARTICLES
POLUHA LAURIE L, APPLE RONALD D, HOLMES DEAN S, MOREN LOUIS S, ALKHAS ROBINETTE S
Year of Publication 29.10.2021
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Year of Publication 29.10.2021
Patent
NONWOVEN ABRASIVE ARTICLE INCLUDING ABRASIVE PARTICLES
POLUHA LAURIE L, APPLE RONALD D, HOLMES DEAN S, MOREN LOUIS S, ALKHAS ROBINETTE S
Year of Publication 01.03.2019
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Year of Publication 01.03.2019
Patent