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    Results: 1 to 50 of 125

    1.

    Different clinical phenotypes in monozygotic CADASIL twins with a novel NOTCH3 mutation.

    Mykkänen K, Junna M, Amberla K, Bronge L, Kääriäinen H, Pöyhönen M, Kalimo H, Viitanen M.

    Stroke. 2009 Jun;40(6):2215-8. Epub 2009 Apr 16.PMID: 19372454 [PubMed - indexed for MEDLINE]Related articles

    2.

    Large genomic rearrangements and germline epimutations in Lynch syndrome.

    Gylling A, Ridanpää M, Vierimaa O, Aittomäki K, Avela K, Kääriäinen H, Laivuori H, Pöyhönen M, Sallinen SL, Wallgren-Pettersson C, Järvinen HJ, Mecklin JP, Peltomäki P.

    Int J Cancer. 2009 May 15;124(10):2333-40.PMID: 19173287 [PubMed - indexed for MEDLINE]Related articles

    3.

    A familial CHARGE syndrome with a CHD7 nonsense mutation and new clinical features.

    Vuorela PE, Penttinen MT, Hietala MH, Laine JO, Huoponen KA, Kääriäinen HA.

    Clin Dysmorphol. 2008 Oct;17(4):249-53.PMID: 18978652 [PubMed - indexed for MEDLINE]Related articles

    4.

    The mutation spectrum in RECQL4 diseases.

    Siitonen HA, Sotkasiira J, Biervliet M, Benmansour A, Capri Y, Cormier-Daire V, Crandall B, Hannula-Jouppi K, Hennekam R, Herzog D, Keymolen K, Lipsanen-Nyman M, Miny P, Plon SE, Riedl S, Sarkar A, Vargas FR, Verloes A, Wang LL, Kääriäinen H, Kestilä M.

    Eur J Hum Genet. 2009 Feb;17(2):151-8. Epub 2008 Aug 20.PMID: 18716613 [PubMed - indexed for MEDLINE]Related articles

    5.

    Mutation screening of fumarate hydratase by multiplex ligation-dependent probe amplification: detection of exonic deletion in a patient with leiomyomatosis and renal cell cancer.

    Ahvenainen T, Lehtonen HJ, Lehtonen R, Vahteristo P, Aittomäki K, Baynam G, Dommering C, Eng C, Gruber SB, Grönberg H, Harvima R, Herva R, Hietala M, Kujala M, Kääriäinen H, Sunde L, Vierimaa O, Pollard PJ, Tomlinson IP, Björck E, Aaltonen LA, Launonen V.

    Cancer Genet Cytogenet. 2008 Jun;183(2):83-8.PMID: 18503824 [PubMed - indexed for MEDLINE]Related articles

    6.

    Regulations and practices of genetic counselling in 38 European countries: the perspective of national representatives.

    Rantanen E, Hietala M, Kristoffersson U, Nippert I, Schmidtke J, Sequeiros J, Kääriäinen H.

    Eur J Hum Genet. 2008 Oct;16(10):1208-16. Epub 2008 May 14.PMID: 18478036 [PubMed - indexed for MEDLINE]Related articlesFree article

    7.

    EuroGentest: DNA-based testing for heritable disorders in Europe.

    Javaher P, Kaariainen H, Kristoffersson U, Nippert I, Sequeiros J, Zimmern R, Schmidtke J.

    Community Genet. 2008;11(2):75-120. Epub 2008 Jan 17. Review.PMID: 18204250 [PubMed - indexed for MEDLINE]Related articles

    8.

    What is ideal genetic counselling? A survey of current international guidelines.

    Rantanen E, Hietala M, Kristoffersson U, Nippert I, Schmidtke J, Sequeiros J, Kääriäinen H.

    Eur J Hum Genet. 2008 Apr;16(4):445-52. Epub 2008 Jan 16.PMID: 18197196 [PubMed - indexed for MEDLINE]Related articlesFree article

    9.

    Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions.

    Vuorela P, Ala-Mello S, Saloranta C, Penttinen M, Pöyhönen M, Huoponen K, Borozdin W, Bausch B, Botzenhart EM, Wilhelm C, Kääriäinen H, Kohlhase J.

    Genet Med. 2007 Oct;9(10):690-4.PMID: 18073582 [PubMed - indexed for MEDLINE]Related articles

    10.

    Direct contact in inviting high-risk members of hereditary colon cancer families to genetic counselling and DNA testing.

    Aktan-Collan K, Haukkala A, Pylvänäinen K, Järvinen HJ, Aaltonen LA, Peltomäki P, Rantanen E, Kääriäinen H, Mecklin JP.

    J Med Genet. 2007 Nov;44(11):732-8. Epub 2007 Jul 14.PMID: 17630403 [PubMed - indexed for MEDLINE]Related articles

    11.

    Adolescents at risk for MODY3 diabetes prefer genetic testing before adulthood.

    Liljeström B, Tuomi T, Isomaa B, Sarelin L, Aktan-Collan K, Kääriäinen H.

    Diabetes Care. 2007 Jun;30(6):1571-3. Epub 2007 Mar 10. No abstract available. PMID: 17351287 [PubMed - indexed for MEDLINE]Related articlesFree article

    12.

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

    Pylkäs K, Tommiska J, Syrjäkoski K, Kere J, Gatei M, Waddell N, Allinen M, Karppinen SM, Rapakko K, Kääriäinen H, Aittomäki K, Blomqvist C, Mustonen A, Holli K, Khanna KK, Kallioniemi OP, Nevanlinna H, Winqvist R.

    Carcinogenesis. 2007 May;28(5):1040-5. Epub 2006 Dec 13.PMID: 17166884 [PubMed - indexed for MEDLINE]Related articlesFree article

    13.

    The interface between assisted reproductive technologies and genetics: technical, social, ethical and legal issues.

    Soini S, Ibarreta D, Anastasiadou V, Aymé S, Braga S, Cornel M, Coviello DA, Evers-Kiebooms G, Geraedts J, Gianaroli L, Harper J, Kosztolanyi G, Lundin K, Rodrigues-Cerezo E, Sermon K, Sequeiros J, Tranebjaerg L, Kääriäinen H; ESHG; ESHRE.

    Eur J Hum Genet. 2006 May;14(5):588-645.PMID: 16636693 [PubMed - indexed for MEDLINE]Related articlesFree article

    14.

    Assisted reproduction and genetics.

    Kääriäinen H.

    Eur J Hum Genet. 2006 May;14(5):505. No abstract available. PMID: 16636690 [PubMed - indexed for MEDLINE]Related articlesFree article

    15.

    Doctor's expertise and managing discrepant information from other sources in genetic counseling: a conversation analytic perspective.

    Lehtinen E, Kääriäinen H.

    J Genet Couns. 2005 Dec;14(6):435-51.PMID: 16388324 [PubMed - indexed for MEDLINE]Related articles

    16.

    Polycystic liver and kidney diseases.

    Tahvanainen E, Tahvanainen P, Kääriäinen H, Höckerstedt K.

    Ann Med. 2005;37(8):546-55. Review.PMID: 16338757 [PubMed - indexed for MEDLINE]Related articles

    17.

    The axon guidance receptor gene ROBO1 is a candidate gene for developmental dyslexia.

    Hannula-Jouppi K, Kaminen-Ahola N, Taipale M, Eklund R, Nopola-Hemmi J, Kääriäinen H, Kere J.

    PLoS Genet. 2005 Oct;1(4):e50. Epub 2005 Oct 28.PMID: 16254601 [PubMed - indexed for MEDLINE]Related articlesFree article

    18.

    Expanding screening for rare metabolic disease in the newborn: an analysis of costs, effect and ethical consequences for decision-making in Finland.

    Autti-Rämö I, Mäkelä M, Sintonen H, Koskinen H, Laajalahti L, Halila R, Kääriäinen H, Lapatto R, Näntö-Salonen K, Pulkki K, Renlund M, Salo M, Tyni T.

    Acta Paediatr. 2005 Aug;94(8):1126-36.PMID: 16188860 [PubMed - indexed for MEDLINE]Related articles

    19.

    Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin.

    Hakonen AH, Heiskanen S, Juvonen V, Lappalainen I, Luoma PT, Rantamaki M, Goethem GV, Lofgren A, Hackman P, Paetau A, Kaakkola S, Majamaa K, Varilo T, Udd B, Kaariainen H, Bindoff LA, Suomalainen A.

    Am J Hum Genet. 2005 Sep;77(3):430-41. Epub 2005 Jul 27.PMID: 16080118 [PubMed - indexed for MEDLINE]Related articlesFree article

    20.

    Clinical and mutational spectrum of Mowat-Wilson syndrome.

    Zweier C, Thiel CT, Dufke A, Crow YJ, Meinecke P, Suri M, Ala-Mello S, Beemer F, Bernasconi S, Bianchi P, Bier A, Devriendt K, Dimitrov B, Firth H, Gallagher RC, Garavelli L, Gillessen-Kaesbach G, Hudgins L, Kääriäinen H, Karstens S, Krantz I, Mannhardt A, Medne L, Mücke J, Kibaek M, Krogh LN, Peippo M, Rittinger O, Schulz S, Schelley SL, Temple IK, Dennis NR, Van der Knaap MS, Wheeler P, Yerushalmi B, Zenker M, Seidel H, Lachmeijer A, Prescott T, Kraus C, Lowry RB, Rauch A.

    Eur J Med Genet. 2005 Apr-Jun;48(2):97-111. Epub 2005 Feb 25.PMID: 16053902 [PubMed - indexed for MEDLINE]Related articles

    21.

    Medically assisted reproduction and ethical challenges.

    Kääriäinen H, Evers-Kiebooms G, Coviello D.

    Toxicol Appl Pharmacol. 2005 Sep 1;207(2 Suppl):684-8. Review.PMID: 15992844 [PubMed - indexed for MEDLINE]Related articles

    22.

    Breast and other cancers in 1445 blood relatives of 75 Nordic patients with ataxia telangiectasia.

    Olsen JH, Hahnemann JM, Børresen-Dale AL, Tretli S, Kleinerman R, Sankila R, Hammarström L, Robsahm TE, Kääriäinen H, Bregård A, Brøndum-Nielsen K, Yuen J, Tucker M.

    Br J Cancer. 2005 Jul 25;93(2):260-5.PMID: 15942625 [PubMed - indexed for MEDLINE]Related articlesFree article

    23.

    Genetic testing for maturity onset diabetes of the young: uptake, attitudes and comparison with hereditary non-polyposis colorectal cancer.

    Liljeström B, Aktan-Collan K, Isomaa B, Sarelin L, Uutela A, Groop L, Kääriäinen H, Tuomi T.

    Diabetologia. 2005 Feb;48(2):242-50. Epub 2005 Jan 20.PMID: 15660263 [PubMed - indexed for MEDLINE]Related articles

    24.

    Childhood-onset osteoarthritis, tall stature, and sensorineural hearing loss associated with Arg75-Cys mutation in procollagen type II gene (COL2A1).

    Löppönen T, Körkkö J, Lundan T, Seppänen U, Ignatius J, Kääriäinen H.

    Arthritis Rheum. 2004 Dec 15;51(6):925-32. Review.PMID: 15593085 [PubMed - indexed for MEDLINE]Related articlesFree article

    25.

    Comparative PRKAR1A genotype-phenotype analyses in humans with Carney complex and prkar1a haploinsufficient mice.

    Veugelers M, Wilkes D, Burton K, McDermott DA, Song Y, Goldstein MM, La Perle K, Vaughan CJ, O'Hagan A, Bennett KR, Meyer BJ, Legius E, Karttunen M, Norio R, Kaariainen H, Lavyne M, Neau JP, Richter G, Kirali K, Farnsworth A, Stapleton K, Morelli P, Takanashi Y, Bamforth JS, Eitelberger F, Noszian I, Manfroi W, Powers J, Mochizuki Y, Imai T, Ko GT, Driscoll DA, Goldmuntz E, Edelberg JM, Collins A, Eccles D, Irvine AD, McKnight GS, Basson CT.

    Proc Natl Acad Sci U S A. 2004 Sep 28;101(39):14222-7. Epub 2004 Sep 15.PMID: 15371594 [PubMed - indexed for MEDLINE]Related articlesFree article

    26.

    [Genetic defects underlying polycystic liver disease are discovered]

    Tahvanainen E, Tahvanainen P, Kääriäinen H, Höckerstedt K.

    Duodecim. 2004;120(9):1081-4. Review. Finnish. No abstract available. PMID: 15232849 [PubMed - indexed for MEDLINE]Related articles

    27.

    New options for prenatal diagnosis in autosomal recessive polycystic kidney disease by mutation analysis of the PKHD1 gene.

    Zerres K, Senderek J, Rudnik-Schöneborn S, Eggermann T, Kunze J, Mononen T, Kääriäinen H, Kirfel J, Moser M, Buettner R, Bergmann C.

    Clin Genet. 2004 Jul;66(1):53-7.PMID: 15200508 [PubMed - indexed for MEDLINE]Related articles

    28.

    Commissioning clinical genetic services in the UK.

    Kääriäinen H.

    Community Genet. 1999;2(1):46. No abstract available. PMID: 15178962 [PubMed]Related articles

    29.

    Mutations in SEC63 cause autosomal dominant polycystic liver disease.

    Davila S, Furu L, Gharavi AG, Tian X, Onoe T, Qian Q, Li A, Cai Y, Kamath PS, King BF, Azurmendi PJ, Tahvanainen P, Kääriäinen H, Höckerstedt K, Devuyst O, Pirson Y, Martin RS, Lifton RP, Tahvanainen E, Torres VE, Somlo S.

    Nat Genet. 2004 Jun;36(6):575-7. Epub 2004 May 9.PMID: 15133510 [PubMed - indexed for MEDLINE]Related articles

    30.

    Dysmorphic facial features in aspartylglucosaminuria patients and carriers.

    Arvio MA, Peippo MM, Arvio PJ, Kääriäinen HA.

    Clin Dysmorphol. 2004 Jan;13(1):11-5.PMID: 15127757 [PubMed - indexed for MEDLINE]Related articles

    31.

    Abnormal hepatocystin caused by truncating PRKCSH mutations leads to autosomal dominant polycystic liver disease.

    Drenth JP, Tahvanainen E, te Morsche RH, Tahvanainen P, Kääriäinen H, Höckerstedt K, van de Kamp JM, Breuning MH, Jansen JB.

    Hepatology. 2004 Apr;39(4):924-31.PMID: 15057895 [PubMed - indexed for MEDLINE]Related articles

    32.

    Hypertrichosis, hyperkeratosis, abnormal corpus callosum, mental retardation and dysmorphic features in three unrelated females.

    Pöyhönen MH, Peippo MM, Valanne LK, Kuokkanen KE, Koskela SM, Bartsch O, Rasi S, Wiebe GJ, Kähkönen M, Kääriäinen HA.

    Clin Dysmorphol. 2004 Apr;13(2):85-90.PMID: 15057123 [PubMed - indexed for MEDLINE]Related articles

    33.

    Provision of genetic services in Europe: current practices and issues.

    Godard B, Kääriäinen H, Kristoffersson U, Tranebjaerg L, Coviello D, Aymé S.

    Eur J Hum Genet. 2003 Dec;11 Suppl 2:S13-48. Review.PMID: 14718937 [PubMed - indexed for MEDLINE]Related articlesFree article

    34.

    Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases.

    Siitonen HA, Kopra O, Kääriäinen H, Haravuori H, Winter RM, Säämänen AM, Peltonen L, Kestilä M.

    Hum Mol Genet. 2003 Nov 1;12(21):2837-44. Epub 2003 Sep 2.PMID: 12952869 [PubMed - indexed for MEDLINE]Related articlesFree article

    35.

    Further delineation of the phenotype associated with heterozygous mutations in ZFHX1B.

    Wilson M, Mowat D, Dastot-Le Moal F, Cacheux V, Kääriäinen H, Cass D, Donnai D, Clayton-Smith J, Townshend S, Curry C, Gattas M, Braddock S, Kerr B, Aftimos S, Zehnwirth H, Barrey C, Goossens M.

    Am J Med Genet A. 2003 Jun 15;119A(3):257-65.PMID: 12784289 [PubMed - indexed for MEDLINE]Related articles

    36.

    Life and health insurance behaviour of individuals having undergone a predictive genetic testing programme for hereditary non-polyposis colorectal cancer.

    Aktan-Collan K, Haukkala A, Kaariainen H.

    Community Genet. 2001;4(4):219-24.PMID: 12751485 [PubMed - indexed for MEDLINE]Related articles

    37.

    Collagen XI sequence variations in nonsyndromic cleft palate, Robin sequence and micrognathia.

    Melkoniemi M, Koillinen H, Männikkö M, Warman ML, Pihlajamaa T, Kääriäinen H, Rautio J, Hukki J, Stofko JA, Cisneros GJ, Krakow D, Cohn DH, Kere J, Ala-Kokko L.

    Eur J Hum Genet. 2003 Mar;11(3):265-70.PMID: 12673280 [PubMed - indexed for MEDLINE]Related articlesFree article

    38.

    Polycystic liver disease is genetically heterogeneous: clinical and linkage studies in eight Finnish families.

    Tahvanainen P, Tahvanainen E, Reijonen H, Halme L, Kääriäinen H, Höckerstedt K.

    J Hepatol. 2003 Jan;38(1):39-43.PMID: 12480558 [PubMed - indexed for MEDLINE]Related articles

    39.

    Valproate embryopathy in three sets of siblings: further proof of hereditary susceptibility.

    Malm H, Kajantie E, Kivirikko S, Kääriäinen H, Peippo M, Somer M.

    Neurology. 2002 Aug 27;59(4):630-3.PMID: 12196666 [PubMed - indexed for MEDLINE]Related articles

    40.

    [Whether or not to get children when a hereditary disease is worrying you?]

    Kääriäinen H.

    Duodecim. 2001;117(20):1993-4. Finnish. No abstract available. PMID: 12183911 [PubMed - indexed for MEDLINE]Related articles

    41.

    ATM mutations in Finnish breast cancer patients.

    Allinen M, Launonen V, Laake K, Jansen L, Huusko P, Kääriäinen H, Børresen-Dale AL, Winqvist R.

    J Med Genet. 2002 Mar;39(3):192-6. No abstract available. PMID: 11897822 [PubMed - indexed for MEDLINE]Related articlesFree article

    42.

    [Risks and adverse effects of genetic screening]

    Kääriäinen H.

    Duodecim. 2000;116(8):909-13. Review. Finnish. No abstract available. PMID: 11787135 [PubMed - indexed for MEDLINE]Related articles

    43.

    [Promises and threats of genetic techniques]

    Kääriäinen H.

    Duodecim. 1998;114(23):2461-4. Review. Finnish. No abstract available. PMID: 11757145 [PubMed - indexed for MEDLINE]Related articles

    44.

    Comprehension of cancer risk one and 12 months after predictive genetic testing for hereditary non-polyposis colorectal cancer.

    Aktan-Collan K, Haukkala A, Mecklin JP, Uutela A, Kääriäinen H.

    J Med Genet. 2001 Nov;38(11):787-92. No abstract available. PMID: 11732490 [PubMed - indexed for MEDLINE]Related articlesFree article

    45.

    Psychological consequences of predictive genetic testing for hereditary non-polyposis colorectal cancer (HNPCC): a prospective follow-up study.

    Aktan-Collan K, Haukkala A, Mecklin JP, Uutela A, Kääriäinen H.

    Int J Cancer. 2001 Aug 15;93(4):608-11.PMID: 11477567 [PubMed - indexed for MEDLINE]Related articles

    46.

    Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease.

    Cacheux V, Dastot-Le Moal F, Kääriäinen H, Bondurand N, Rintala R, Boissier B, Wilson M, Mowat D, Goossens M.

    Hum Mol Genet. 2001 Jul 1;10(14):1503-10.PMID: 11448942 [PubMed - indexed for MEDLINE]Related articlesFree article

    47.

    Hirschsprung disease, mental retardation and dysmorphic facial features in five unrelated children.

    Kääriäinen H, Wallgren-Pettersson C, Clarke A, Pihko H, Taskinen H, Rintala R.

    Clin Dysmorphol. 2001 Jul;10(3):157-63.PMID: 11446406 [PubMed - indexed for MEDLINE]Related articles

    48.

    Localization of a susceptibility gene for familial nonmedullary thyroid carcinoma to chromosome 2q21.

    McKay JD, Lesueur F, Jonard L, Pastore A, Williamson J, Hoffman L, Burgess J, Duffield A, Papotti M, Stark M, Sobol H, Maes B, Murat A, Kääriäinen H, Bertholon-Grégoire M, Zini M, Rossing MA, Toubert ME, Bonichon F, Cavarec M, Bernard AM, Boneu A, Leprat F, Haas O, Lasset C, Schlumberger M, Canzian F, Goldgar DE, Romeo G.

    Am J Hum Genet. 2001 Aug;69(2):440-6. Epub 2001 Jul 2.PMID: 11438887 [PubMed - indexed for MEDLINE]Related articlesFree article

    49.

    Nephronophthisis and ulcerative colitis in siblings: a new association.

    Ala-Mello S, Kääriäinen H, Koskimies O.

    Pediatr Nephrol. 2001 Jun;16(6):507-9.PMID: 11420917 [PubMed - indexed for MEDLINE]Related articles

    50.

    Cancer in patients with ataxia-telangiectasia and in their relatives in the nordic countries.

    Olsen JH, Hahnemann JM, Børresen-Dale AL, Brøndum-Nielsen K, Hammarström L, Kleinerman R, Kääriäinen H, Lönnqvist T, Sankila R, Seersholm N, Tretli S, Yuen J, Boice JD Jr, Tucker M.

    J Natl Cancer Inst. 2001 Jan 17;93(2):121-7.PMID: 11208881 [PubMed - indexed for MEDLINE]Related articlesFree article

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