Heterozygous mutations in PALB2 cause DNA replication and damage response defects
Nikkilä, Jenni, Parplys, Ann Christin, Pylkäs, Katri, Bose, Muthiah, Huo, Yanying, Borgmann, Kerstin, Rapakko, Katrin, Nieminen, Pentti, Xia, Bing, Pospiech, Helmut, Winqvist, Robert
Published in Nature communications (24.10.2013)
Published in Nature communications (24.10.2013)
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Targeted Next-Generation Sequencing Identifies a Recurrent Mutation in MCPH1 Associating with Hereditary Breast Cancer Susceptibility
Mantere, Tuomo, Winqvist, Robert, Kauppila, Saila, Grip, Mervi, Jukkola-Vuorinen, Arja, Tervasmäki, Anna, Rapakko, Katrin, Pylkäs, Katri
Published in PLoS genetics (01.01.2016)
Published in PLoS genetics (01.01.2016)
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A recurrent mutation in PALB2 in Finnish cancer families
Livingston, David M, Winqvist, Robert, Erkko, Hannele, Xia, Bing, Nikkilä, Jenni, Schleutker, Johanna, Syrjäkoski, Kirsi, Mannermaa, Arto, Kallioniemi, Anne, Pylkäs, Katri, Karppinen, Sanna-Maria, Rapakko, Katrin, Miron, Alexander, Sheng, Qing, Li, Guilan, Mattila, Henna, Bell, Daphne W, Haber, Daniel A, Grip, Mervi, Reiman, Mervi, Jukkola-Vuorinen, Arja, Mustonen, Aki, Kere, Juha, Aaltonen, Lauri A, Kosma, Veli-Matti, Kataja, Vesa, Soini, Ylermi, Drapkin, Ronny I
Published in Nature (15.03.2007)
Published in Nature (15.03.2007)
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Case-control analysis of truncating mutations in DNA damage response genes connects TEX15 and FANCD2 with hereditary breast cancer susceptibility
Mantere, Tuomo, Tervasmäki, Anna, Nurmi, Anna, Rapakko, Katrin, Kauppila, Saila, Tang, Jiangbo, Schleutker, Johanna, Kallioniemi, Anne, Hartikainen, Jaana M, Mannermaa, Arto, Nieminen, Pentti, Hanhisalo, Riitta, Lehto, Sini, Suvanto, Maija, Grip, Mervi, Jukkola-Vuorinen, Arja, Tengström, Maria, Auvinen, Päivi, Kvist, Anders, Borg, Åke, Blomqvist, Carl, Aittomäki, Kristiina, Greenberg, Roger A, Winqvist, Robert, Nevanlinna, Heli, Pylkäs, Katri
Published in Scientific reports (06.04.2017)
Published in Scientific reports (06.04.2017)
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Clinical first-trimester routine screening for Down syndrome in singleton pregnancies in northern Finland
Valinen, Yrtti, MB, Rapakko, Katrin, MSc, Kokkonen, Hannaleena, PhD, Laitinen, Paivi, MSc, PhD, Tekay, Aydin, MD, PhD, Ahola, Tarja, MSc, Ryynanen, Markku, MD, PhD
Published in American journal of obstetrics and gynecology (01.03.2007)
Published in American journal of obstetrics and gynecology (01.03.2007)
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Refined cytogenetic IPSS-R evaluation by the use of SNP array in a cohort of 290 MDS patients
Scarpelli, Ilaria, Stalder, Valérie Beyer, Tsilimidos, Gerasimos, Rapakko, Katrin, Costanza, Mariangela, Blum, Sabine, Schoumans, Jacqueline
Published in Genes chromosomes & cancer (01.12.2023)
Published in Genes chromosomes & cancer (01.12.2023)
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Mutation of TP53, translocation analysis and immunohistochemical expression of MYC, BCL-2 and BCL-6 in patients with DLBCL treated with R-CHOP
Peroja, Pekka, Pedersen, Mette, Mantere, Tuomo, Nørgaard, Peter, Peltonen, Jenni, Haapasaari, Kirsi-Maria, Böhm, Jan, Jantunen, Esa, Turpeenniemi-Hujanen, Taina, Rapakko, Katrin, Karihtala, Peeter, Soini, Ylermi, Vasala, Kaija, Kuittinen, Outi
Published in Scientific reports (04.10.2018)
Published in Scientific reports (04.10.2018)
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BRCA1 mislocalization leads to aberrant DNA damage response in heterozygous ABRAXAS1 mutation carrier cells
Bose, Muthiah, Sachsenweger, Juliane, Laurila, Niina, Parplys, Ann Christin, Willmann, Jonas, Jungwirth, Johannes, Groth, Marco, Rapakko, Katrin, Nieminen, Pentti, Friedl, Thomas W P, Heiserich, Lisa, Meyer, Felix, Tuppurainen, Hanna, Peltoketo, Hellevi, Nevanlinna, Heli, Pylkäs, Katri, Borgmann, Kerstin, Wiesmüller, Lisa, Winqvist, Robert, Pospiech, Helmut
Published in Human molecular genetics (15.12.2019)
Published in Human molecular genetics (15.12.2019)
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RAD50 and NBS1 are breast cancer susceptibility genes associated with genomic instability
Heikkinen, Katri, Rapakko, Katrin, Karppinen, Sanna-Maria, Erkko, Hannele, Knuutila, Sakari, Lundán, Tuija, Mannermaa, Arto, Børresen-Dale, Anne-Lise, Borg, Åke, Barkardottir, Rosa B., Petrini, John, Winqvist, Robert
Published in Carcinogenesis (New York) (01.08.2006)
Published in Carcinogenesis (New York) (01.08.2006)
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Abstract 339: Heterozygous germline mutation in ABRAXAS causes BRCA1 mislocalization and DNA damage response defects
Winqvist, Robert, Bose, Muthiah, Sachsenweger, Juliane, Laurila, Niina, Parplys, Ann Christin, Willmann, Jonas, Eshraghi, Leila, Dunlop, Thomas W., Groth, Marco, Rapakko, Katrin, Nieminen, Pentti, Friedl, Thomas W., Heiserich, Lisa, Meyer, Felix, Tuppurainen, Hanna, Devarajan, Ganapathy Raman, Peltoketo, Hellevi, Nevanlinna, Heli, Pylkäs, Katri, Borgmann, Kerstin, Wiesmuller, Lisa, Pospiech, Helmut
Published in Cancer research (Chicago, Ill.) (01.07.2018)
Published in Cancer research (Chicago, Ill.) (01.07.2018)
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Targeted Next-Generation Sequencing Identifies a Recurrent Mutation in MCPH1 Associating with Hereditary Breast Cancer Susceptibility: e1005816
Mantere, Tuomo, Winqvist, Robert, Kauppila, Saila, Grip, Mervi, Jukkola-Vuorinen, Arja, Tervasmäki, Anna, Rapakko, Katrin, Pylkäs, Katri
Published in PLoS genetics (01.01.2016)
Published in PLoS genetics (01.01.2016)
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Screening for large genomic rearrangements in the FANCA gene reveals extensive deletion in a Finnish breast cancer family
Solyom, Szilvia, Winqvist, Robert, Nikkilä, Jenni, Rapakko, Katrin, Hirvikoski, Pasi, Kokkonen, Hannaleena, Pylkäs, Katri
Published in Cancer letters (28.03.2011)
Published in Cancer letters (28.03.2011)
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Screening for large genomic rearrangements in theFANCAgene reveals extensive deletion in a Finnish breast cancer family
Solyom, Szilvia, Winqvist, Robert, Nikkilä, Jenni, Rapakko, Katrin, Hirvikoski, Pasi, Kokkonen, Hannaleena, Pylkäs, Katri
Published in Cancer letters (28.03.2011)
Published in Cancer letters (28.03.2011)
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Identification of a common polymorphism in the TopBP1 gene associated with hereditary susceptibility to breast and ovarian cancer
Karppinen, Sanna-Maria, Erkko, Hannele, Reini, Kaarina, Pospiech, Helmut, Heikkinen, Katri, Rapakko, Katrin, Syväoja, Juhani E., Winqvist, Robert
Published in European journal of cancer (1990) (01.10.2006)
Published in European journal of cancer (1990) (01.10.2006)
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Low or Undetectable Numbers of Philadelphia Chromosome Positive (Ph+) Leukemia Cells in the Primitive (CD34posCD38neg) Stem Cell Fraction in Chronic Myeloid Leukemia (CML) Patients during Tyrosine Kinase Inhibitor Therapy
Mustjoki, Satu, Rohon, Peter, Rapakko, Katrin, Hernesniemi, Sari, Koskenvesa, Perttu, Lundán, Tuija, Porkka, Kimmo
Published in Blood (16.11.2008)
Published in Blood (16.11.2008)
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Germline alterations in the 53BP1 gene in breast and ovarian cancer families
Rapakko, Katrin, Heikkinen, Katri, Karppinen, Sanna-Maria, Erkko, Hannele, Winqvist, Robert
Published in Cancer letters (08.01.2007)
Published in Cancer letters (08.01.2007)
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Screening for RAD51 and BRCA2 BRC repeat mutations in breast and ovarian cancer families
Rapakko, Katrin, Heikkinen, Katri, Karppinen, Sanna-Maria, Winqvist, Robert
Published in Cancer letters (08.05.2006)
Published in Cancer letters (08.05.2006)
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Association of common ATM polymorphism with bilateral breast cancer
Heikkinen, Katri, Rapakko, Katrin, Karppinen, Sanna‐Maria, Erkko, Hannele, Nieminen, Pentti, Winqvist, Robert
Published in International journal of cancer (10.08.2005)
Published in International journal of cancer (10.08.2005)
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Favorable Therapeutic Responses in Newly Diagnosed CML-CP Patients Induced by Dasatinib Are Reflected At the CD34+CD38+ Progenitor Cell but Not At the CD34+CD38− Stem Cell Level: Results From Randomized NordCML006 Study
Mustjoki, Satu, Richter, Johan, Barbany, Gisela, Ehrencrona, Hans, Dybedal, Ingunn, Fioretos, Thoas, Gedde-Dahl, Tobias, Gjertsen, Bjorn, Hovland, Randi, Jalkanen, Sari E, Josefsen, Dag, Koskenvesa, Perttu, Lassen, Carin, Latvala, Kirsi, Majeed, Waleed, Malm, Claes, Markevärn, Berit, Mosfegh, Ali, Ohm, Lotta, Olofsson, Tor, Olsson-Strömberg, Ulla, Rapakko, Katrin, Remes, Kari, Stentoft, Jesper, Stenke, Leif, Suominen, Merja, Thunberg, Sara, Bjerrum, Ole Weiss, Simonsson, Bengt, Porkka, Kimmo, Hjorth-Hansen, Henrik
Published in Blood (18.11.2011)
Published in Blood (18.11.2011)
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