Lauri A Aaltonen

Lauri A Aaltonen

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Lauri A Aaltonen

Lauri A Aaltonen

Publications by authors named "Lauri A Aaltonen"

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Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

Nat Commun 2019 05 14;10(1):2154. Epub 2019 May 14.

Colon Cancer Genetics Group, Medical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, Western General Hospital, University of Edinburgh, Edinburgh, EH4 2XU, UK.

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http://www.nature.com/articles/s41467-019-09775-w
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http://dx.doi.org/10.1038/s41467-019-09775-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6517433PMC
May 2019

Candidate susceptibility variants in angioimmunoblastic T-cell lymphoma.

Fam Cancer 2019 01;18(1):113-119

Department of Medical and Clinical Genetics, Medicum, Faculty of Medicine, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1007/s10689-018-0099-xDOI Listing
January 2019

Discovery of potential causative mutations in human coding and noncoding genome with the interactive software BasePlayer.

Nat Protoc 2018 11;13(11):2580-2600

Genome-Scale Biology Research Program, Research Programs Unit, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1038/s41596-018-0052-3DOI Listing
November 2018

Germline mutations in young non-smoking women with lung adenocarcinoma.

Lung Cancer 2018 08 31;122:76-82. Epub 2018 May 31.

Department of Medical and Clinical Genetics, Medicum, and Genome-Scale Biology Research Program, Research Programs Unit, Faculty of Medicine, University of Helsinki, Helsinki, Finland. Electronic address:

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http://dx.doi.org/10.1016/j.lungcan.2018.05.027DOI Listing
August 2018

Global metabolomic profiling of uterine leiomyomas.

Br J Cancer 2017 Dec 26;117(12):1855-1864. Epub 2017 Oct 26.

Division of Functional Genomics, Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Scheeles Väg 2, Stockholm SE-17177, Sweden.

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http://dx.doi.org/10.1038/bjc.2017.361DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5729474PMC
December 2017

Detection of subclonal L1 transductions in colorectal cancer by long-distance inverse-PCR and Nanopore sequencing.

Sci Rep 2017 11 6;7(1):14521. Epub 2017 Nov 6.

Genome-Scale Biology Research Program, Research Programs Unit, University of Helsinki, Helsinki, 00014, Finland.

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http://dx.doi.org/10.1038/s41598-017-15076-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673974PMC
November 2017

Germline MSH6 Mutation in a Patient With Two Independent Primary Glioblastomas.

J Neuropathol Exp Neurol 2017 Oct;76(10):848-853

Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Helsinki, Finland; Genome-Scale Biology Research Program, Research Programs Unit, University of Helsinki, Helsinki, Finland; International Agency for Research on Cancer, Lyon, France; Department of Pathology, Oulu University Hospital, Oulu, Finland; Medical Faculty, University of Zurich, Zurich, Switzerland.

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http://dx.doi.org/10.1093/jnen/nlx066DOI Listing
October 2017

Candidate susceptibility variants for esophageal squamous cell carcinoma.

Genes Chromosomes Cancer 2017 06 3;56(6):453-459. Epub 2017 Apr 3.

Department of Medical and Clinical Genetics, Faculty of Medicine, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1002/gcc.22448DOI Listing
June 2017

Whole-exome sequencing identifies novel candidate predisposition genes for familial polycythemia vera.

Hum Genomics 2017 04 20;11(1). Epub 2017 Apr 20.

Genome-Scale Biology Research Program, Research Programs Unit and Department of Medical and Clinical Genetics, Medicum, University of Helsinki, P.O. Box 63, 00014, Helsinki, Finland.

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http://dx.doi.org/10.1186/s40246-017-0102-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5397753PMC
April 2017

Multiple clinical characteristics separate MED12-mutation-positive and -negative uterine leiomyomas.

Sci Rep 2017 04 21;7(1):1015. Epub 2017 Apr 21.

Department of Medical and Clinical Genetics and Genome-Scale Biology Research Program, P.O. Box 63, FIN-00014 University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1038/s41598-017-01199-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5430741PMC
April 2017

Integrated data analysis reveals uterine leiomyoma subtypes with distinct driver pathways and biomarkers.

Proc Natl Acad Sci U S A 2016 Feb 19;113(5):1315-20. Epub 2016 Jan 19.

Medicum, Department of Medical and Clinical Genetics, University of Helsinki, Helsinki FIN-00014, Finland; Research Programs Unit, Genome-Scale Biology, University of Helsinki, Helsinki FIN-00014, Finland; Department of Biosciences and Nutrition, Karolinska Institutet, SE-171 77, Stockholm, Sweden

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http://dx.doi.org/10.1073/pnas.1518752113DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4747776PMC
February 2016

Whole-Genome Sequencing of Growth Hormone (GH)-Secreting Pituitary Adenomas.

J Clin Endocrinol Metab 2015 Oct 17;100(10):3918-27. Epub 2015 Aug 17.

Department of Medical and Clinical Genetics (N.V.,H.D., E.P., E.K., L.A.A., A.Karh.), Genome-Scale Biology Research Programs Unit (N.V., H.D., E.P., E.K., L.A.A., A.Karh.), University of Helsinki, 00014 Helsinki, Finland; and Department of Neurosurgery (A.Karp., L.K.), Helsinki University Central Hospital, and Department of Endocrinology (C.S.-J.), Abdominal Center, University of Helsinki and Helsinki University Central Hospital, 00029 Helsinki, Finland.

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http://dx.doi.org/10.1210/jc.2015-3129DOI Listing
October 2015

Identification of homozygous deletion in ACAN and other candidate variants in familial classical Hodgkin lymphoma by exome sequencing.

Br J Haematol 2015 Aug 25;170(3):428-31. Epub 2015 Feb 25.

Department of Medical Genetics, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1111/bjh.13295DOI Listing
August 2015

Clonally related uterine leiomyomas are common and display branched tumor evolution.

Hum Mol Genet 2015 Aug 10;24(15):4407-16. Epub 2015 May 10.

Department of Medical and Clinical Genetics, Haartman Institute, Research Programs Unit, Genome-Scale Biology, University of Helsinki, PO Box 63, Helsinki FIN-00014, Finland,

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http://dx.doi.org/10.1093/hmg/ddv177DOI Listing
August 2015

CTCF/cohesin-binding sites are frequently mutated in cancer.

Nat Genet 2015 Jul 8;47(7):818-21. Epub 2015 Jun 8.

1] Genome-Scale Biology Research Program, Research Programs Unit, University of Helsinki, Helsinki, Finland. [2] Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1038/ng.3335DOI Listing
July 2015

Exome sequencing reveals three novel candidate predisposition genes for diffuse gastric cancer.

Fam Cancer 2015 Jun;14(2):241-6

Genome-Scale Biology Research Program, Department of Medical Genetics, Biomedicum Helsinki, University of Helsinki, Haartmaninkatu 8, P.O. Box 63, 00014, Helsinki, Finland.

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http://dx.doi.org/10.1007/s10689-015-9778-zDOI Listing
June 2015

Systematic search for rare variants in Finnish early-onset colorectal cancer patients.

Cancer Genet 2015 Jan-Feb;208(1-2):35-40. Epub 2014 Dec 31.

Department of Medical Genetics, Genome-Scale Biology Program, University of Helsinki, Biomedicum, Helsinki, Finland. Electronic address:

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http://dx.doi.org/10.1016/j.cancergen.2014.12.004DOI Listing
May 2015

Genomic profile of pseudomyxoma peritonei analyzed using next-generation sequencing and immunohistochemistry.

Int J Cancer 2015 Mar 13;136(5):E282-9. Epub 2014 Oct 13.

Genome-Scale Biology Research Program, Research Programs Unit, University of Helsinki, Helsinki, Finland.

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http://doi.wiley.com/10.1002/ijc.29245
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http://dx.doi.org/10.1002/ijc.29245DOI Listing
March 2015

High frequency of RPL22 mutations in microsatellite-unstable colorectal and endometrial tumors.

Hum Mutat 2014 Dec;35(12):1442-5

Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, 9700, RB, The Netherlands.

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http://dx.doi.org/10.1002/humu.22686DOI Listing
December 2014

New target genes in endometrial tumors show a role for the estrogen-receptor pathway in microsatellite-unstable cancers.

Hum Mutat 2014 Dec;35(12):1514-23

Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands; Department of Pathomorphology, Medical College, Jagiellonian University, Krakow, Poland; Institute of Molecular Pathology and Immunology and Medical Faculty, University of Porto, Porto, Portugal.

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http://dx.doi.org/10.1002/humu.22700DOI Listing
December 2014

Clinical characterization, genetic mapping and whole-genome sequence analysis of a novel autosomal recessive intellectual disability syndrome.

Eur J Med Genet 2014 Oct 29;57(10):543-51. Epub 2014 Jul 29.

Department of Medical Genetics, Genome-Scale Biology Research Program, University of Helsinki and Haartman Institute, Helsinki, Finland. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2014.07.002DOI Listing
October 2014

MED12 mutation frequency in unselected sporadic uterine leiomyomas.

Fertil Steril 2014 Oct 6;102(4):1137-42. Epub 2014 Aug 6.

Department of Medical Genetics, University of Helsinki, Helsinki, Finland; Genome-Scale Biology Research Program, Research Programs Unit, University of Helsinki, Helsinki, Finland. Electronic address:

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http://dx.doi.org/10.1016/j.fertnstert.2014.06.040DOI Listing
October 2014

Genomics of uterine leiomyomas: insights from high-throughput sequencing.

Fertil Steril 2014 Sep 5;102(3):621-9. Epub 2014 Aug 5.

Department of Medical Genetics and Genome-Scale Biology Research Program, University of Helsinki, Helsinki, Finland. Electronic address:

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http://dx.doi.org/10.1016/j.fertnstert.2014.06.050DOI Listing
September 2014

Uterine leiomyoma-linked MED12 mutations disrupt mediator-associated CDK activity.

Cell Rep 2014 May 18;7(3):654-60. Epub 2014 Apr 18.

Department of Molecular Medicine, Institute of Biotechnology, University of Texas Health Science Center at San Antonio, 7703 Floyd Curl Drive, Mail Code 8257, STRF, San Antonio, TX 78229-3900, USA. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2014.03.047DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4041330PMC
May 2014

Exomic landscape of MED12 mutation-negative and -positive uterine leiomyomas.

Int J Cancer 2014 Feb 29;134(4):1008-12. Epub 2013 Aug 29.

Department of Medical Genetics, Genome-Scale Biology Research Program, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1002/ijc.28410DOI Listing
February 2014

Frequent L1 retrotranspositions originating from TTC28 in colorectal cancer.

Oncotarget 2014 Feb;5(3):853-9

Genome-Scale Biology Research Program, Research Programs Unit, University of Helsinki, Helsinki, Finland.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3996660PMC
http://dx.doi.org/10.18632/oncotarget.1781DOI Listing
February 2014

MED12 exon 2 mutations in histopathological uterine leiomyoma variants.

Eur J Hum Genet 2013 Nov 27;21(11):1300-3. Epub 2013 Feb 27.

Department of Medical Genetics, Genome-Scale Biology Research Program, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1038/ejhg.2013.33DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3798840PMC
November 2013

Chromothripsis in uterine leiomyomas.

N Engl J Med 2013 11;369(22):2160-1

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http://dx.doi.org/10.1056/NEJMc1310230DOI Listing
November 2013

Characterization of uterine leiomyomas by whole-genome sequencing.

N Engl J Med 2013 Jul 5;369(1):43-53. Epub 2013 Jun 5.

Department of Medical Genetics, Genome-Scale Biology Research Program, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland.

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http://dx.doi.org/10.1056/NEJMoa1302736DOI Listing
July 2013

Lessons from functional analysis of genome-wide association studies.

Cancer Res 2013 Jul 5;73(14):4180-4. Epub 2013 Jul 5.

Department of Biosciences and Nutrition, SciLife Center, Karolinska Institutet, Clinical Research Center, Karolinska University Hospital, Stockholm, Sweden.

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http://dx.doi.org/10.1158/0008-5472.CAN-13-0789DOI Listing
July 2013

Exome sequencing in diagnostic evaluation of colorectal cancer predisposition in young patients.

Scand J Gastroenterol 2013 Jun 2;48(6):672-8. Epub 2013 Apr 2.

Department of Medical Genetics, Genome-Scale Biology Program, University of Helsinki, Biomedicum, P.O. Box 63, FIN-00014 University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.3109/00365521.2013.783102DOI Listing
June 2013

Trilateral retinoblastoma in a patient with Peutz-Jeghers syndrome.

Am J Med Genet A 2013 May 5;161A(5):1096-100. Epub 2013 Mar 5.

Department of Molecular Pathology, Canterbury Health Laboratories, Christchurch, New Zealand.

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http://dx.doi.org/10.1002/ajmg.a.35748DOI Listing
May 2013

Familial isolated pituitary adenomas (FIPA) and the pituitary adenoma predisposition due to mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene.

Endocr Rev 2013 Apr 31;34(2):239-77. Epub 2013 Jan 31.

Department of Endocrinology, Centre Hospitalier Universitaire de Liège, University of Liège, Domaine Universitaire du Sart-Tilman, 4000 Liège, Belgium.

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http://dx.doi.org/10.1210/er.2012-1013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3610678PMC
April 2013

High familial risk in nodular lymphocyte-predominant Hodgkin lymphoma.

J Clin Oncol 2013 Mar 2;31(7):938-43. Epub 2013 Jan 2.

University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1200/JCO.2012.43.5958DOI Listing
March 2013

Segregation of a missense variant in enteric smooth muscle actin γ-2 with autosomal dominant familial visceral myopathy.

Gastroenterology 2012 Dec 6;143(6):1482-1491.e3. Epub 2012 Sep 6.

Department of Medical Genetics, Genome-Scale Biology Research Program, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1053/j.gastro.2012.08.045DOI Listing
December 2012

Mice lacking a Myc enhancer that includes human SNP rs6983267 are resistant to intestinal tumors.

Science 2012 Dec 1;338(6112):1360-3. Epub 2012 Nov 1.

Science for Life Center, Department of Biosciences and Nutrition, Karolinska Institutet, Stockholm, Sweden.

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http://dx.doi.org/10.1126/science.1228606DOI Listing
December 2012

Screening of Finnish RAD51C founder mutations in prostate and colorectal cancer patients.

BMC Cancer 2012 Nov 23;12:552. Epub 2012 Nov 23.

Departments of Obstetrics and Gynecology, Helsinki University Central Hospital and University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1186/1471-2407-12-552DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3522023PMC
November 2012

Analysis of a Finnish family confirms RHBDF2 mutations as the underlying factor in tylosis with esophageal cancer.

Fam Cancer 2012 Sep;11(3):525-8

Department of Medical Genetics, Genome-Scale Biology Research Program, University of Helsinki, Helsinki, Finland.

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http://link.springer.com/10.1007/s10689-012-9532-8
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http://dx.doi.org/10.1007/s10689-012-9532-8DOI Listing
September 2012

Strong family history of uterine leiomyomatosis warrants fumarate hydratase mutation screening.

Hum Reprod 2012 Jun 3;27(6):1865-9. Epub 2012 Apr 3.

Department of Medical Genetics, Genome-Scale Biology Research Program, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1093/humrep/des105DOI Listing
June 2012

Villin expression is frequently lost in poorly differentiated colon cancer.

Am J Pathol 2012 Apr 18;180(4):1509-21. Epub 2012 Feb 18.

Molecular Biology and Biochemistry Research Center-Nanomedicine, Vall d'Hebron University Hospital Research Institute, Universitat Autònoma de Barcelona, Barcelona, Spain.

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http://dx.doi.org/10.1016/j.ajpath.2012.01.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5426554PMC
April 2012

Rule-based induction method for haplotype comparison and identification of candidate disease loci.

Genome Med 2012 Mar 19;4(3):21. Epub 2012 Mar 19.

Research Programs Unit, Genome-Scale Biology, and Institute of Biomedicine, Biochemistry and Developmental Biology, University of Helsinki, Haartmaninkatu 8, Helsinki, FIN-00014, Finland.

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http://dx.doi.org/10.1186/gm320DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3446271PMC
March 2012

Brush border myosin Ia has tumor suppressor activity in the intestine.

Proc Natl Acad Sci U S A 2012 Jan 18;109(5):1530-5. Epub 2012 Jan 18.

Group of Molecular Oncology, and Group of Drug Delivery and Targeting, Centro de Investigaciones en Bioquímica y Biología Molecular-Nanomedicine, Vall d'Hebron University Hospital Research Institute, Universitat Autònoma de Barcelona, 08035 Barcelona, Spain.

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http://dx.doi.org/10.1073/pnas.1108411109DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3277176PMC
January 2012

MED12 exon 2 mutations are common in uterine leiomyomas from South African patients.

Oncotarget 2011 Dec;2(12):966-9

Department of Medical Genetics, Genome-Scale Biology Research Program, University of Helsinki, Helsinki, Finland.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3282101PMC
http://dx.doi.org/10.18632/oncotarget.370DOI Listing
December 2011

No evidence of RET germline mutations in familial pituitary adenoma.

J Mol Endocrinol 2011 Feb 21;46(1):1-8. Epub 2010 Dec 21.

Genome-Scale Biology Research Program, Department of Medical Genetics, University of Helsinki, 00014 Helsinki, Finland.

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http://dx.doi.org/10.1677/JME-10-0052DOI Listing
February 2011

Downregulation of the hedgehog receptor PTCH1 in colorectal serrated adenocarcinomas is not caused by PTCH1 mutations.

Virchows Arch 2011 Feb 14;458(2):213-9. Epub 2011 Jan 14.

Department of Pathology, Institute of Diagnostics, University of Oulu, FI-90014, Oulu, Finland.

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http://dx.doi.org/10.1007/s00428-010-1031-4DOI Listing
February 2011

Systematic search for enhancer elements and somatic allelic imbalance at seven low-penetrance colorectal cancer predisposition loci.

BMC Med Genet 2011 Feb 14;12:23. Epub 2011 Feb 14.

Department of Medical Genetics, Genome-Scale Biology Research Program, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1186/1471-2350-12-23DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3045878PMC
February 2011

Somatic mutations and germline sequence variants in patients with familial colorectal cancer.

Int J Cancer 2010 Dec;127(12):2974-80

Department of Medical Genetics, Genome-Scale Biology Research Program, Biomedicum Helsinki, University of Helsinki, Finland.

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http://dx.doi.org/10.1002/ijc.25529DOI Listing
December 2010

Clinical characteristics and therapeutic responses in patients with germ-line AIP mutations and pituitary adenomas: an international collaborative study.

J Clin Endocrinol Metab 2010 Nov 4;95(11):E373-83. Epub 2010 Aug 4.

Department of Endocrinology, Centre Hospitalier Universitaire de Liège, University of Liège, Liège, Belgium.

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http://dx.doi.org/10.1210/jc.2009-2556DOI Listing
November 2010

Low-penetrance susceptibility variants in familial colorectal cancer.

Cancer Epidemiol Biomarkers Prev 2010 Jun 25;19(6):1478-83. Epub 2010 May 25.

Department of Medical Genetics, Genome-Scale Biology Research Program, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1158/1055-9965.EPI-09-1320DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2883738PMC
June 2010

Metastasis-Associated Gene Expression Changes Predict Poor Outcomes in Patients with Dukes Stage B and C Colorectal Cancer.

Clin Cancer Res 2009 Dec;15(24):7642-7651

Authors' Affiliations: Ludwig Colon Cancer Initiative Laboratory, Ludwig Institute for Cancer Research; Anatomic Pathology Department, Royal Melbourne Hospital, Parkville, Victoria, Australia; Department of Clinical Pharmacology, University of Oxford, Oxford, United Kingdom; Department of Medical Genetics, Biomedicum, University of Helsinki, Helsinki, Finland; Group of Molecular Oncology, Nanomedicine Research Program, Molecular Biology and Biochemistry Research Center (Centro de Investigación Bioquímica y Biología Molecular), Vall d'Hebron Hospital Research Institute, Barcelona, Spain; Molecular Diagnostic Laboratory, Department of Clinical Biochemistry, Aarhus University Hospital, Skejby, Denmark; and GI Surgical Oncology, H. Lee Moffitt Cancer Center and Research Institute, Tampa, Florida.

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http://dx.doi.org/10.1158/1078-0432.CCR-09-1431DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2920750PMC
December 2009

Aggressive pituitary adenomas occurring in young patients in a large Polynesian kindred with a germline R271W mutation in the AIP gene.

Eur J Endocrinol 2009 Nov 14;161(5):799-804. Epub 2009 Aug 14.

Department of Endocrinology and Diabetes and Centre for Hormone Research, The Murdoch Childrens Research Institute and The Royal Children's Hospital, Flemington Road, Parkville, Melbourne, Victoria 3052, Australia.

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https://eje.bioscientifica.com/view/journals/eje/161/5/799.x
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http://dx.doi.org/10.1530/EJE-09-0406DOI Listing
November 2009

Ten years after mutation testing for Lynch syndrome: cancer incidence and outcome in mutation-positive and mutation-negative family members.

J Clin Oncol 2009 Oct 31;27(28):4793-7. Epub 2009 Aug 31.

Department of Surgery, University of Helsinki, FI-00029 HUS, Helsinki, Finland.

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http://dx.doi.org/10.1200/JCO.2009.23.7784DOI Listing
October 2009