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A recurrent mutation in PALB2 in Finnish cancer families

Nature, 2007-03, Vol.446 (7133), p.316-319

2007

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Heterozygous mutations in PALB2 cause DNA replication and damage response defects

Nature communications, 2013-10, Vol.4 (1), p.2578-2578, Article 2578

2013

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Targeted Next-Generation Sequencing Identifies a Recurrent Mutation in MCPH1 Associating with Hereditary Breast Cancer Susceptibility

PLoS genetics, 2016-01, Vol.12 (1), p.e1005816-e1005816

2016

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Case-control analysis of truncating mutations in DNA damage response genes connects TEX15 and FANCD2 with hereditary breast cancer susceptibility

Scientific reports, 2017-04, Vol.7 (1), p.681-681, Article 681

2017

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Refined cytogenetic IPSS-R evaluation by the use of SNP array in a cohort of 290 MDS patients

Genes chromosomes & cancer, 2023-12, Vol.62 (12), p.721-731

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

Scientific reports, 2018-10, Vol.8 (1), p.14814-9, Article 14814

2018

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Clinical first-trimester routine screening for Down syndrome in singleton pregnancies in northern Finland

American journal of obstetrics and gynecology, 2007-03, Vol.196 (3), p.278.e1-278.e5

2007

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BRCA1 mislocalization leads to aberrant DNA damage response in heterozygous ABRAXAS1 mutation carrier cells

Human molecular genetics, 2019-12, Vol.28 (24), p.4148-4160

2019

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RAD50 and NBS1 are breast cancer susceptibility genes associated with genomic instability

Carcinogenesis (New York), 2006-08, Vol.27 (8), p.1593-1599

2006

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Abstract 339: Heterozygous germline mutation in ABRAXAS causes BRCA1 mislocalization and DNA damage response defects

Cancer research (Chicago, Ill.), 2018-07, Vol.78 (13_Supplement), p.339-339

2018

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Targeted Next-Generation Sequencing Identifies a Recurrent Mutation in MCPH1 Associating with Hereditary Breast Cancer Susceptibility: e1005816

PLoS genetics, 2016-01, Vol.12 (1)

2016

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Screening for large genomic rearrangements in the FANCA gene reveals extensive deletion in a Finnish breast cancer family

Cancer letters, 2011-03, Vol.302 (2), p.113-118

2011

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Screening for large genomic rearrangements in theFANCAgene reveals extensive deletion in a Finnish breast cancer family

Cancer letters, 2011-03, Vol.302 (2), p.113

2011

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Identification of a common polymorphism in the TopBP1 gene associated with hereditary susceptibility to breast and ovarian cancer

European journal of cancer (1990), 2006-10, Vol.42 (15), p.2647-2652

2006

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Association of common ATM polymorphism with bilateral breast cancer

International journal of cancer, 2005-08, Vol.116 (1), p.69-72

2005

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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

Blood, 2008-11, Vol.112 (11), p.1079-1079

2008

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Germline alterations in the 53BP1 gene in breast and ovarian cancer families

Cancer letters, 2007-01, Vol.245 (1), p.337-340

2007

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Screening for RAD51 and BRCA2 BRC repeat mutations in breast and ovarian cancer families

Cancer letters, 2006-05, Vol.236 (1), p.142-147

2006

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Evaluation of the role of Finnish ataxia-telangiectasia mutations in hereditary predisposition to breast cancer

Carcinogenesis (New York), 2007-05, Vol.28 (5), p.1040-1045

2007

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Mutation analysis of the ATR gene in breast and ovarian cancer families

Breast cancer research : BCR, 2005, Vol.7 (4), p.R495-R501

2005

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The Proportion of Ph+ CD34+CD38neg Leukemic Stem Cells In the Bone Marrow of Newly Diagnosed Patients with Chronic Myeloid Leukemia (CML) In Chronic Phase (CP) Is Variable and Correlates with High Sokal Risk, High Leukocyte Count, Low Hemoglobin Concentration, Splenomegaly and Increased Hematological Toxicity During Initial TKI-Therapy. Data From a Randomized Phase II NordCML006 Study

Blood, 2010-11, Vol.116 (21), p.667-667

2010

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UBE3A gene mutations in finnish Angelman syndrome patients detected by conformation sensitive gel electrophoresis

American journal of medical genetics, 2004-04, Vol.126A (3), p.248-252

2004

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Mutation analysis of the ATRgene in breast and ovarian cancer families

Breast cancer research : BCR, 2005-05, Vol.7 (4), Article R495

2005

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Multiple founder effects and geographical clustering of BRCA1 and BRCA2 families in Finland

European journal of human genetics : EJHG, 2000-10, Vol.8 (10), p.757-763

2000

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A recurrent mutation in PALB2 in Finnish cancer families

Heterozygous mutations in PALB2 cause DNA replication and damage response defects

Targeted Next-Generation Sequencing Identifies a Recurrent Mutation in MCPH1 Associating with Hereditary Breast Cancer Susceptibility

Case-control analysis of truncating mutations in DNA damage response genes connects TEX15 and FANCD2 with hereditary breast cancer susceptibility

Refined cytogenetic IPSS-R evaluation by the use of SNP array in a cohort of 290 MDS patients

Mutation of TP53, translocation analysis and immunohistochemical expression of MYC, BCL-2 and BCL-6 in patients with DLBCL treated with R-CHOP

Clinical first-trimester routine screening for Down syndrome in singleton pregnancies in northern Finland

BRCA1 mislocalization leads to aberrant DNA damage response in heterozygous ABRAXAS1 mutation carrier cells

RAD50 and NBS1 are breast cancer susceptibility genes associated with genomic instability

Abstract 339: Heterozygous germline mutation in ABRAXAS causes BRCA1 mislocalization and DNA damage response defects

Targeted Next-Generation Sequencing Identifies a Recurrent Mutation in MCPH1 Associating with Hereditary Breast Cancer Susceptibility: e1005816

Screening for large genomic rearrangements in the FANCA gene reveals extensive deletion in a Finnish breast cancer family

Screening for large genomic rearrangements in theFANCAgene reveals extensive deletion in a Finnish breast cancer family

Identification of a common polymorphism in the TopBP1 gene associated with hereditary susceptibility to breast and ovarian cancer

Association of common ATM polymorphism with bilateral breast cancer

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

Germline alterations in the 53BP1 gene in breast and ovarian cancer families

Screening for RAD51 and BRCA2 BRC repeat mutations in breast and ovarian cancer families

Evaluation of the role of Finnish ataxia-telangiectasia mutations in hereditary predisposition to breast cancer

Mutation analysis of the ATR gene in breast and ovarian cancer families

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

UBE3A gene mutations in finnish Angelman syndrome patients detected by conformation sensitive gel electrophoresis

Mutation analysis of the ATRgene in breast and ovarian cancer families

Multiple founder effects and geographical clustering of BRCA1 and BRCA2 families in Finland

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