Ulf Kristoffersson

författare

• 2012
  • A Nonsynonymous Polymorphism in IRS1 Modifies Risk of Developing Breast and Ovarian Cancers in BRCA1 and Ovarian Cancer in BRCA2 Mutation Carriers
  • A large-sample assessment of possible association between ischaemic stroke and rs12188950 in the PDE4D gene.
  • Association Between BRCA1 and BRCA2 Mutations and Survival in Women With Invasive Epithelial Ovarian Cancer
  • Editorial: Genetics and Democracy
  • Genetics and democracy-what is the issue?
  • Increased incidence of childhood, prostate and breast cancers in relatives of childhood cancer patients.
  • Prevalence of germline TP53 mutations and history of Li-Fraumeni syndrome in families with childhood adrenocortical tumors, choroid plexus tumors, and rhabdomyosarcoma: A population-based survey.
• 2011
  • Biparental inheritance of chromosomal abnormalities in male twins with non-syndromic mental retardation
  • Genetic Variation at 9p22.2 and Ovarian Cancer Risk for BRCA1 and BRCA2 Mutation Carriers.
  • Genetic testing and common disorders in a public health framework: how to assess relevance and possibilities Background Document to the ESHG recommendations on genetic testing and common disorders
• 2010
  • Association of the Variants CASP8 D302H and CASP10 V410I with Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers.
  • Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2 mutation carriers
  • Genetic Screening in Europe
• 2009
  • Educational priorities and current involvement in genetic practice: a survey of midwives in the Netherlands, UK and Sweden
  • Testing the Children: Do Non-Genetic Health-Care Providers Differ in Their Decision to Advise Genetic Presymptomatic Testing on Minors? A Cross-Sectional Study in Five Countries in the European Union
• 2008
  • Assessing educational priorities in genetics for general practitioners and specialists in five countries: factor structure of the Genetic-Educational Priorities (Gen-EP) scale
  • Broad phenotypic spectrum in familial adenomatous polyposis; from early onset and severe phenotypes to late onset of attenuated polyposis with the first manifestation at age 72
  • EuroGentest: DNA-based testing for heritable disorders in Europe
  • Genetics in clinical practice: general practitioners' educational priorities in European countries
  • Higher occurrence of childhood cancer in families with germline mutations in BRCA2, MMR and CDKN2A genes.
  • Ischaemic stroke in hypertensive patients is associated with variations in the PDE4D genome region.
  • Regulations and practices of genetic counselling in 38 European countries: the perspective of national representatives
  • Regulatory Issues for Genetic Testing in Clinical Practice.
  • What is ideal genetic counselling? A survey of current international guidelines
• 2007
  • Brister i genetisk kunskap i vården?
  • Cytogenetic Guidelines and Quality Assurance: a common European framework for quality assessment for constitutional and acquired cytogenetic investigations
  • Etisk argumentation och klinisk verklighet kan med fördel förenas.
  • Report of an international survey of molecular genetic testing laboratories
• 2006
  • ECA Permanent working group for cytogenetics and society: Cytogenetic guidelines and quality assurance. A common framework for quality assessment for constitutional and acquired cytogenetic investigations
  • Education in medical genetics for non-genetic health care providers in sweden.
  • Genetic education for non-geneticist health professionals
  • Handy book on cancer genetics risk assessment.
  • Hemizygosity for chromosome 2q14.2-q22.1 spanning the GLI2 and PROC genes associated with growth hormone deficiency, polydactyly, deep vein thrombosis and urogenital abnormalities
  • The contribution of the hereditary nonpolyposis colorectal cancer syndrome to the development of ovarian cancer.
• 2005
  • Genetic education and nongenetic health professionals: Educational providers and curricula in Europe.
  • Medicinsk kommentar. Ny kunskap om arv och ärftlighet ger nya aspekter på hjärtsjukdom
  • Ny kunskap om arv och ärftlighet ger nya aspekter på hjärtsjukdom
  • Nya rön om fragil X-syndromet komplicerar genetisk vägledning. Sjukdomsgenen orsakar fler symtom än vad som tidigare varit känt
  • Prevalence of Stroke and Vascular Risk Factors among First-Degree Relatives of Stroke Patients and Control Subjects.
• 2004
  • A new model for prediction of the age of onset and penetrance for Huntington's disease based on CAG length.
  • An excess of chromosome 1 breakpoints in male infertility.
  • External quality assessment for mutation detection in the BRCA1 and BRCA2 genes: EMQN's experience of 3 years
  • Genetisk rådgivning och fosterdiagnostik.
  • One in 10 ovarian cancer patients carry germ line BRCA1 or BRCA2 mutations: results of a prospective study in Southern Sweden.
  • Regulation of genetic testing in clinical practice
  • Regulation of genetic testing in clinical practice.
  • The need for oncogenetic counselling - Ten years' experience of a regional oncogenetic clinic
• 2003
  • Book review: P.J. Morrison, S.V. Hodgson, N.E. Haites (eds): Familial breast cancer: genetics, screening and managementCambridge University Press, 2002, 401 pp, hardcover (ISBN 0-521-80373-X) pound 65.00.
  • Data storage and DNA banking for biomedical research: technical, social and ethical issues.
  • Ett etiskt dilemma: Farmakogenetiskt test kan ge oönskad information An ethical dilemma: pharmacogenetic tests can yield unwanted information
  • Gendiagnostik vid sjukdom – och innan den bryter ut
  • Genetic information and testing insurance and employment: technical, social, and ethical issues.
  • Medicinsk genetik – en introduktion.
  • Population genetic screening programmes: technical, social, and ethical issues.
  • Provision of genetic service in Europe: current practices and issues.
  • Provision of genetic services in Europe: current practices and issues
  • Ring Y chromosome in an azoospermic male with short stature: additional evidence for a distinct ring Y syndrome in non-mosaic patients?
  • Statens medicinsk-etiska råd. Genetisk screening - om hälsa och ärftlig sjukdomsrisk. Etiska vägmärken 11. (rec)
• 2002
  • HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome
• 2001
  • Essential genetics education for non-genetics health professionals (EC Project GenEd)
  • Family history of breast and ovarian cancers and BRCA1 and BRCA2 mutations in a population-based series of early-onset breast cancer
  • Functional analysis of BRCA1 C-terminal missense mutations identified in breast and ovarian cancer families
  • Identification of human candidate genes for male infertility by digital differential display
  • Issues in Human GenEthics
• 2000
  • Naturvetare och kulturforskare kan överbrygga ämnesgränser
• 1999
  • Incidence of malignant tumours in relatives of BRCA1 and BRCA2 germline mutation carriers
  • Prognostic implications of cytogenetic aberrations in diffuse large B-cell lymphomas
  • hMLH1, hMSH2 and hMSH6 mutations in hereditary non-polyposis colorectal cancer families from southern Sweden
• 1997
  • Moderate frequency of BRCA1 and BRCA2 germ-line mutations in Scandinavian familial breast cancer
• 1996
  • Chromosome aberrations in prophylactic mastectomies from women belonging to breast cancer families
• 1993
  • Clinical impact of breakpoint position within M-bcr in chronic myeloid leukemia
• 1990
  • Bone marrow karyotypes in 94 children with acute leukemia
  • Remarkably long survival of a patient with Ph1-positive chronic myeloid leukemia and 5' bcr rearrangement
• 1987
  • A new specific chromosomal rearrangement, t(8;16) (p11;p13), in acute monocytic leukaemia
  • New structural chromosomal rearrangements in congenital leukemia
• 1986
  • High resolution banding analysis of the reciprocal translocation t(6;9) in acute nonlymphocytic leukemia
  • Reciprocal translocation (11;19)(q23;p13) in congenital acute lymphoblastic leukemia
• 1984
  • First-trimester diagnosis on chorionic villi obtained by direct vision technique
• 1983
  • Diagnostisk korionbiopsi vid Lasarettet i Lund