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Journal Abstract Search

123 related items for PubMed ID: 39225643

  • 21. 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. PubMed ID: 15108285
    [Abstract] [Full Text] [Related]

  • 22. Liver pathology and biochemistry in patients with mutations in TRIM37 gene (Mulibrey nanism).
    Sivunen J, Karlberg S, Kivisaari R, Lohi J, Karlberg N, Jokinen E, Sarkola T, Jahnukainen T, Lipsanen-Nyman M, Jalanko H.
    Liver Int; 2022 Jun; 42(6):1369-1378. PubMed ID: 35220664
    [Abstract] [Full Text] [Related]

  • 23. A stone was lifted from her heart: pericardial constriction in 28-year-old patient with Mulibrey nanism.
    Baczewski K, Czajkowski M, Olszewski K, Stadnik A, Stążka J.
    Kardiol Pol; 2016 Jun; 74(2):192. PubMed ID: 27150563
    [No Abstract] [Full Text] [Related]

  • 24. Characterisation of the mulibrey nanism-associated TRIM37 gene: transcription initiation, promoter region and alternative splicing.
    Hämäläinen RH, Joensuu T, Kallijärvi J, Lehesjoki AE.
    Gene; 2006 Jan 17; 366(1):180-8. PubMed ID: 16310976
    [Abstract] [Full Text] [Related]

  • 25. Whole Exome Sequencing Identified the Causative Mutation in a 4-Year-Old Female with Mulibrey Nanism: A Case Report.
    Zeinaloo AA, Mirzaei Ilali H, Aghaei Moghadam E, Khorram Khorshid HR, Esmaeilzadeh E.
    Iran J Public Health; 2022 Dec 17; 51(12):2826-2830. PubMed ID: 36742244
    [Abstract] [Full Text] [Related]

  • 26. TRIM37 prevents formation of centriolar protein assemblies by regulating Centrobin.
    Balestra FR, Domínguez-Calvo A, Wolf B, Busso C, Buff A, Averink T, Lipsanen-Nyman M, Huertas P, Ríos RM, Gönczy P.
    Elife; 2021 Jan 25; 10():. PubMed ID: 33491649
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  • 29. The TRIM37 variants in Mulibrey nanism patients paralyze follicular helper T cell differentiation.
    Gu W, Zhang J, Li Q, Zhang Y, Lin X, Wu B, Yin Q, Sun J, Lu Y, Sun X, Jia C, Li C, Zhang Y, Wang M, Yin X, Wang S, Xu J, Wang R, Zhu S, Cheng S, Chen S, Liu L, Zhu L, Yan C, Yi C, Li X, Lian Q, Lin G, Ling Z, Ma L, Zhou M, Xiao K, Wei H, Hu R, Zhou W, Ye L, Wang H, Li J, Sun B.
    Cell Discov; 2023 Aug 01; 9(1):82. PubMed ID: 37528081
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  • 31. 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. PubMed ID: 12756154
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  • 32. [Ascites in Mulibrey syndrome].
    Husová L, Husa P.
    Vnitr Lek; 2009 Jun 10; 55(6):604-7. PubMed ID: 19662894
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  • 33. 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 10; 70(5):1215-28. PubMed ID: 11938494
    [Abstract] [Full Text] [Related]

  • 34. Report of two Syrian siblings with Mulibrey nanism.
    Al Saadi T, Alkhatib M, Turk T, Turkmani K, Abbas F, Khouri L.
    Oxf Med Case Reports; 2015 Dec 10; 2015(12):367-70. PubMed ID: 26664725
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  • 36. Trim37-deficient mice recapitulate several features of the multi-organ disorder Mulibrey nanism.
    Kettunen KM, Karikoski R, Hämäläinen RH, Toivonen TT, Antonenkov VD, Kulesskaya N, Voikar V, Hölttä-Vuori M, Ikonen E, Sainio K, Jalanko A, Karlberg S, Karlberg N, Lipsanen-Nyman M, Toppari J, Jauhiainen M, Hiltunen JK, Jalanko H, Lehesjoki AE.
    Biol Open; 2016 May 15; 5(5):584-95. PubMed ID: 27044324
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  • 38. Renal findings in patients with Mulibrey nanism.
    Sivunen J, Karlberg S, Lohi J, Karlberg N, Lipsanen-Nyman M, Jalanko H.
    Pediatr Nephrol; 2017 Sep 15; 32(9):1531-1536. PubMed ID: 28432469
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  • 39. Mulibrey nanism.
    Balg S, Stengel-Rutkowski S, Döhlemann C, Boergen K.
    Clin Dysmorphol; 1995 Jan 15; 4(1):63-9. PubMed ID: 7735507
    [Abstract] [Full Text] [Related]

  • 40. Premature ovarian insufficiency and early depletion of the ovarian reserve in the monogenic Mulibrey nanism disorder.
    Karlberg S, Tiitinen A, Alfthan H, Lipsanen-Nyman M.
    Hum Reprod; 2018 Jul 01; 33(7):1254-1261. PubMed ID: 29860321
    [Abstract] [Full Text] [Related]

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