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    Results: 36

    1.

    Submicroscopic genomic alterations in Silver-Russell syndrome and Silver-Russell-like patients.

    Bruce S, Hannula-Jouppi K, Puoskari M, Fransson I, Simola KO, Lipsanen-Nyman M, Kere J.

    J Med Genet. 2009 Sep 14. [Epub ahead of print]PMID: 19752157 [PubMed - as supplied by publisher]Related articles

    2.

    High frequency of tumours in Mulibrey nanism.

    Karlberg N, Karlberg S, Karikoski R, Mikkola S, Lipsanen-Nyman M, Jalanko H.

    J Pathol. 2009 Jun;218(2):163-71.PMID: 19334051 [PubMed - indexed for MEDLINE]Related articles

    3.

    Gynecological tumors in Mulibrey nanism and role for RING finger protein TRIM37 in the pathogenesis of ovarian fibrothecomas.

    Karlberg S, Lipsanen-Nyman M, Lassus H, Kallijärvi J, Lehesjoki AE, Butzow R.

    Mod Pathol. 2009 Apr;22(4):570-8. Epub 2009 Mar 27.PMID: 19329943 [PubMed - indexed for MEDLINE]Related articles

    4.

    Clinically distinct epigenetic subgroups in Silver-Russell syndrome: the degree of H19 hypomethylation associates with phenotype severity and genital and skeletal anomalies.

    Bruce S, Hannula-Jouppi K, Peltonen J, Kere J, Lipsanen-Nyman M.

    J Clin Endocrinol Metab. 2009 Feb;94(2):579-87. Epub 2008 Nov 18.PMID: 19017756 [PubMed - indexed for MEDLINE]Related articles

    5.

    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

    6.

    Restriction site-specific methylation studies of imprinted genes with quantitative real-time PCR.

    Bruce S, Hannula-Jouppi K, Lindgren CM, Lipsanen-Nyman M, Kere J.

    Clin Chem. 2008 Mar;54(3):491-9. Epub 2008 Jan 17.PMID: 18202157 [PubMed - indexed for MEDLINE]Related articlesFree article

    7.

    Insufficient growth hormone secretion is associated with metabolic syndrome after allogeneic stem cell transplantation in childhood.

    Taskinen M, Lipsanen-Nyman M, Tiitinen A, Hovi L, Saarinen-Pihkala UM.

    J Pediatr Hematol Oncol. 2007 Aug;29(8):529-34.PMID: 17762493 [PubMed - indexed for MEDLINE]Related articles

    8.

    Growth and growth hormone therapy in subjects with mulibrey nanism.

    Karlberg N, Jalanko H, Lipsanen-Nyman M.

    Pediatrics. 2007 Jul;120(1):e102-11. Epub 2007 Jun 4.PMID: 17548484 [PubMed - indexed for MEDLINE]Related articlesFree article

    9.

    Cardiac dysfunction in children with mulibrey nanism.

    Eerola A, Pihkala JI, Karlberg N, Lipsanen-Nyman M, Jokinen E.

    Pediatr Cardiol. 2007 May-Jun;28(3):155-62. Epub 2007 Mar 20.PMID: 17375349 [PubMed - indexed for MEDLINE]Related articles

    10.

    Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia.

    Feuk L, Kalervo A, Lipsanen-Nyman M, Skaug J, Nakabayashi K, Finucane B, Hartung D, Innes M, Kerem B, Nowaczyk MJ, Rivlin J, Roberts W, Senman L, Summers A, Szatmari P, Wong V, Vincent JB, Zeesman S, Osborne LR, Cardy JO, Kere J, Scherer SW, Hannula-Jouppi K.

    Am J Hum Genet. 2006 Nov;79(5):965-72. Epub 2006 Sep 27.PMID: 17033973 [PubMed - indexed for MEDLINE]Related articlesFree article

    11.

    A two-base deletion -439delGC in the melanocortin-4 receptor promoter associated with early-onset obesity.

    Valli-Jaakola K, Palvimo JJ, Lipsanen-Nyman M, Salomaa V, Peltonen L, Kontula K, Schalin-Jäntti C.

    Horm Res. 2006;66(2):61-9. Epub 2006 May 19.PMID: 16710097 [PubMed - indexed for MEDLINE]Related articles

    12.

    [Not Available]

    Salo M, Anglé S, Kaukua J, Ketola E, Komulainen J, Lipsanen-Nyman M, Nuutinen O, Pere A, Vanhapelto T, Veijola R.

    Duodecim. 2006;122(6):687-8. Finnish. No abstract available. PMID: 16683365 [PubMed]Related articles

    13.

    Risk factors for reduced areal bone mineral density in young adults with stem cell transplantation in childhood.

    Taskinen M, Kananen K, Välimäki M, Löyttyniemi E, Hovi L, Saarinen-Pihkala U, Lipsanen-Nyman M.

    Pediatr Transplant. 2006 Feb;10(1):90-7.PMID: 16499594 [PubMed - indexed for MEDLINE]Related articles

    14.

    Insulin resistance syndrome in subjects with mutated RING finger protein TRIM37.

    Karlberg N, Jalanko H, Kallijärvi J, Lehesjoki AE, Lipsanen-Nyman M.

    Diabetes. 2005 Dec;54(12):3577-81.PMID: 16306379 [PubMed - indexed for MEDLINE]Related articlesFree article

    15.

    TRIM37 defective in mulibrey nanism is a novel RING finger ubiquitin E3 ligase.

    Kallijärvi J, Lahtinen U, Hämäläinen R, Lipsanen-Nyman M, Palvimo JJ, Lehesjoki AE.

    Exp Cell Res. 2005 Aug 1;308(1):146-55.PMID: 15885686 [PubMed - indexed for MEDLINE]Related articles

    16.

    Global analysis of uniparental disomy using high density genotyping arrays.

    Bruce S, Leinonen R, Lindgren CM, Kivinen K, Dahlman-Wright K, Lipsanen-Nyman M, Hannula-Jouppi K, Kere J.

    J Med Genet. 2005 Nov;42(11):847-51. Epub 2005 May 6.PMID: 15879501 [PubMed - indexed for MEDLINE]Related articlesFree article

    17.

    Failure of sexual maturation in Mulibrey nanism.

    Karlberg S, Tiitinen A, Lipsanen-Nyman M.

    N Engl J Med. 2004 Dec 9;351(24):2559-60. No abstract available. PMID: 15590968 [PubMed - indexed for MEDLINE]Related articles

    18.

    Cardiac involvement in Mulibrey nanism: characterization with magnetic resonance imaging.

    Kivistö S, Lipsanen-Nyman M, Kupari M, Hekali P, Lauerma K.

    J Cardiovasc Magn Reson. 2004;6(3):645-52.PMID: 15347129 [PubMed - indexed for MEDLINE]Related articles

    19.

    Novel mutations in the TRIM37 gene in Mulibrey Nanism.

    Hämäläinen RH, Avela K, Lambert JA, Kallijärvi J, Eyaid W, Gronau J, Ignaszewski AP, McFadden D, Sorge G, Lipsanen-Nyman M, Lehesjoki AE.

    Hum Mutat. 2004 May;23(5):522.PMID: 15108285 [PubMed - indexed for MEDLINE]Related articles

    20.

    Identification and characterization of melanocortin-4 receptor gene mutations in morbidly obese finnish children and adults.

    Valli-Jaakola K, Lipsanen-Nyman M, Oksanen L, Hollenberg AN, Kontula K, Bjørbaek C, Schalin-Jäntti C.

    J Clin Endocrinol Metab. 2004 Feb;89(2):940-5.PMID: 14764818 [PubMed - indexed for MEDLINE]Related articlesFree article

    21.

    Mulibrey nanism: clinical features and diagnostic criteria.

    Karlberg N, Jalanko H, Perheentupa J, Lipsanen-Nyman M.

    J Med Genet. 2004 Feb;41(2):92-8.PMID: 14757854 [PubMed - indexed for MEDLINE]Related articlesFree article

    22.

    Mulibrey nanism--a novel peroxisomal disorder.

    Kallijärvi J, Lehesjoki AE, Lipsanen-Nyman M.

    Adv Exp Med Biol. 2003;544:31-7. Review. No abstract available. PMID: 14713209 [PubMed - indexed for MEDLINE]Related articles

    23.

    Mulibrey heart disease: clinical manifestations, long-term course, and results of pericardiectomy in a series of 49 patients born before 1985.

    Lipsanen-Nyman M, Perheentupa J, Rapola J, Sovijärvi A, Kupari M.

    Circulation. 2003 Jun 10;107(22):2810-5. Epub 2003 May 19.PMID: 12756154 [PubMed - indexed for MEDLINE]Related articlesFree article

    24.

    The TRIM37 gene encodes a peroxisomal RING-B-box-coiled-coil protein: classification of mulibrey nanism as a new peroxisomal disorder.

    Kallijärvi J, Avela K, Lipsanen-Nyman M, Ulmanen I, Lehesjoki AE.

    Am J Hum Genet. 2002 May;70(5):1215-28. Epub 2002 Apr 5.PMID: 11938494 [PubMed - indexed for MEDLINE]Related articlesFree article

    25.

    Genetic screening for maternal uniparental disomy of chromosome 7 in prenatal and postnatal growth retardation of unknown cause.

    Hannula K, Lipsanen-Nyman M, Kristo P, Kaitila I, Simola KO, Lenko HL, Tapanainen P, Holmberg C, Kere J.

    Pediatrics. 2002 Mar;109(3):441-8.PMID: 11875139 [PubMed - indexed for MEDLINE]Related articlesFree article

    26.

    [Adolescence--a challenge for the therapy of diabetes]

    Lipsanen-Nyman M.

    Duodecim. 1999;115(5):485-6. Finnish. No abstract available. PMID: 11830898 [PubMed - indexed for MEDLINE]Related articles

    27.

    Do patients with maternal uniparental disomy for chromosome 7 have a distinct mild Silver-Russell phenotype?

    Hannula K, Kere J, Pirinen S, Holmberg C, Lipsanen-Nyman M.

    J Med Genet. 2001 Apr;38(4):273-8. No abstract available. PMID: 11370636 [PubMed - indexed for MEDLINE]Related articlesFree article

    28.

    Maternal and paternal chromosomes 7 show differential methylation of many genes in lymphoblast DNA.

    Hannula K, Lipsanen-Nyman M, Scherer SW, Holmberg C, Höglund P, Kere J.

    Genomics. 2001 Apr 1;73(1):1-9.PMID: 11352560 [PubMed - indexed for MEDLINE]Related articles

    29.

    Assessment of mulibrey nanism cardiopathy with functional magnetic resonance imaging.

    Kokki S, Lauerma K, Kupari M, Lipsanen-Nyman M, Hekali P.

    MAGMA. 2000 Nov;11(1-2):84-6. No abstract available. PMID: 11187000 [PubMed - indexed for MEDLINE]Related articles

    30.

    A narrow segment of maternal uniparental disomy of chromosome 7q31-qter in Silver-Russell syndrome delimits a candidate gene region.

    Hannula K, Lipsanen-Nyman M, Kontiokari T, Kere J.

    Am J Hum Genet. 2001 Jan;68(1):247-53. Epub 2000 Dec 8.PMID: 11112662 [PubMed - indexed for MEDLINE]Related articlesFree article

    31.

    Impaired glucose tolerance and dyslipidaemia as late effects after bone-marrow transplantation in childhood.

    Taskinen M, Saarinen-Pihkala UM, Hovi L, Lipsanen-Nyman M.

    Lancet. 2000 Sep 16;356(9234):993-7.PMID: 11041401 [PubMed - indexed for MEDLINE]Related articles

    32.

    Gene encoding a new RING-B-box-Coiled-coil protein is mutated in mulibrey nanism.

    Avela K, Lipsanen-Nyman M, Idänheimo N, Seemanová E, Rosengren S, Mäkelä TP, Perheentupa J, Chapelle AD, Lehesjoki AE.

    Nat Genet. 2000 Jul;25(3):298-301.PMID: 10888877 [PubMed - indexed for MEDLINE]Related articles

    33.

    Cohen syndrome: evaluation of its cardiac, endocrine and radiological features.

    Kivitie-Kallio S, Eronen M, Lipsanen-Nyman M, Marttinen E, Norio R.

    Clin Genet. 1999 Jul;56(1):41-50. Review.PMID: 10466416 [PubMed - indexed for MEDLINE]Related articles

    34.

    High frequency of mutations in MODY and mitochondrial genes in Scandinavian patients with familial early-onset diabetes.

    Lehto M, Wipemo C, Ivarsson SA, Lindgren C, Lipsanen-Nyman M, Weng J, Wibell L, Widén E, Tuomi T, Groop L.

    Diabetologia. 1999 Sep;42(9):1131-7.PMID: 10447526 [PubMed - indexed for MEDLINE]Related articles

    35.

    Growth hormone treatment of short children born small-for-gestational-age: the Nordic Multicentre Trial.

    Boguszewski M, Albertsson-Wikland K, Aronsson S, Gustafsson J, Hagenäs L, Westgren U, Westphal O, Lipsanen-Nyman M, Sipilä I, Gellert P, Müller J, Madsen B.

    Acta Paediatr. 1998 Mar;87(3):257-63.PMID: 9560030 [PubMed - indexed for MEDLINE]Related articles

    36.

    Assignment of the mulibrey nanism gene to 17q by linkage and linkage-disequilibrium analysis.

    Avela K, Lipsanen-Nyman M, Perheentupa J, Wallgren-Pettersson C, Marchand S, Fauré S, Sistonen P, de la Chapelle A, Lehesjoki AE.

    Am J Hum Genet. 1997 Apr;60(4):896-902.PMID: 9106536 [PubMed - indexed for MEDLINE]Related articlesFree article

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