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Journal Abstract Search

144 related items for PubMed ID: 17100991

  • 1. Wilms' tumor and novel TRIM37 mutations in an Australian patient with mulibrey nanism.
    Hämäläinen RH, Mowat D, Gabbett MT, O'brien TA, Kallijärvi J, Lehesjoki AE.
    Clin Genet; 2006 Dec; 70(6):473-9. PubMed ID: 17100991
    [Abstract] [Full Text] [Related]

  • 2. A novel mutation in TRIM37 is associated with mulibrey nanism in a Turkish boy.
    Doğancı T, Yüksel Konuk BE, Alpan N, Konuk O, Hämäläinen RH, Lehesjoki AE, Tekin M.
    Clin Dysmorphol; 2007 Jul; 16(3):173-176. PubMed ID: 17551331
    [Abstract] [Full Text] [Related]

  • 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. PubMed ID: 19329943
    [Abstract] [Full Text] [Related]

  • 4. New intragenic rearrangements in non-Finnish mulibrey nanism.
    Jobic F, Morin G, Vincent-Delorme C, Cadet E, Cabry R, Mathieu-Dramard M, Copin H, Rochette J, Jedraszak G.
    Am J Med Genet A; 2017 Oct; 173(10):2782-2788. PubMed ID: 28815877
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. Mulibrey nanism and immunological complications: a comprehensive case report and literature review.
    Gazzin A, Pala F, Bosticardo M, Niemela J, Stoddard J, Biasin E, Quarello P, Carli D, Ferroni F, Delmonte OM, Montin D, Rosenzweig SD, Licciardi F, Notarangelo LD.
    Front Immunol; 2023 May; 14():1303251. PubMed ID: 38116000
    [Abstract] [Full Text] [Related]

  • 7. 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 01; 308(1):146-55. PubMed ID: 15885686
    [Abstract] [Full Text] [Related]

  • 8. TRIMming down to TRIM37: Relevance to Inflammation, Cardiovascular Disorders, and Cancer in MULIBREY Nanism.
    Brigant B, Metzinger-Le Meuth V, Rochette J, Metzinger L.
    Int J Mol Sci; 2018 Dec 24; 20(1):. PubMed ID: 30586926
    [Abstract] [Full Text] [Related]

  • 9. Tissue expression of the mulibrey nanism-associated Trim37 protein in embryonic and adult mouse tissues.
    Kallijärvi J, Hämäläinen RH, Karlberg N, Sainio K, Lehesjoki AE.
    Histochem Cell Biol; 2006 Sep 24; 126(3):325-34. PubMed ID: 16514549
    [Abstract] [Full Text] [Related]

  • 10. Wilms tumor with Mulibrey Nanism: A case report and review of literature.
    Upasana K, Thakkar D, Gautam D, Sachdev MS, Yadav A, Kapoor R, Raghunathan V, Dhaliwal MS, Bhargava K, Nair S, Sharma J, Rastogi N, Yadav SP.
    Cancer Rep (Hoboken); 2022 May 24; 5(5):e1512. PubMed ID: 34309235
    [Abstract] [Full Text] [Related]

  • 11. Refractory congestive heart failure following delayed pericardectomy in a 12-year-old child with Mulibrey nanism due to a novel mutation in TRIM37.
    Kumpf M, Hämäläinen RH, Hofbeck M, Baden W.
    Eur J Pediatr; 2013 Oct 24; 172(10):1415-8. PubMed ID: 23385855
    [Abstract] [Full Text] [Related]

  • 12. CD4+ T Cell Defects in a Mulibrey Patient With Specific TRIM37 Mutations.
    Bruzzaniti S, Cirillo E, Prencipe R, Giardino G, Lepore MT, Garziano F, Perna F, Procaccini C, Mascolo L, Pagano C, Fattorusso V, Mozzillo E, Bifulco M, Matarese G, Franzese A, Pignata C, Galgani M.
    Front Immunol; 2020 Oct 24; 11():1742. PubMed ID: 33042106
    [Abstract] [Full Text] [Related]

  • 13. 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 24; 70(5):1215-28. PubMed ID: 11938494
    [Abstract] [Full Text] [Related]

  • 14. Mulibrey nanism: Two novel mutations in a child identified by Array CGH and DNA sequencing.
    Mozzillo E, Cozzolino C, Genesio R, Melis D, Frisso G, Orrico A, Lombardo B, Fattorusso V, Discepolo V, Della Casa R, Simonelli F, Nitsch L, Salvatore F, Franzese A.
    Am J Med Genet A; 2016 Aug 24; 170(8):2196-9. PubMed ID: 27256967
    [Abstract] [Full Text] [Related]

  • 15. Renal findings in patients with Mulibrey nanism.
    Sivunen J, Karlberg S, Lohi J, Karlberg N, Lipsanen-Nyman M, Jalanko H.
    Pediatr Nephrol; 2017 Sep 24; 32(9):1531-1536. PubMed ID: 28432469
    [Abstract] [Full Text] [Related]

  • 16. High frequency of tumours in Mulibrey nanism.
    Karlberg N, Karlberg S, Karikoski R, Mikkola S, Lipsanen-Nyman M, Jalanko H.
    J Pathol; 2009 Jun 24; 218(2):163-71. PubMed ID: 19334051
    [Abstract] [Full Text] [Related]

  • 17. TRIM37: a critical orchestrator of centrosome function.
    Domínguez-Calvo A, Gönczy P, Holland AJ, Balestra FR.
    Cell Cycle; 2021 Dec 24; 20(23):2443-2451. PubMed ID: 34672905
    [Abstract] [Full Text] [Related]

  • 18. Mulibrey Nanism: A Case with Heart Failure.
    Temizhan AY, Çolakoğlu MN, Kara M, Köprücü E, Korkmaz A, Topaloğlu S, Altay FP, Köroğlu EY, Erbahçeci Timur İE, Uğurlu N, Temizhan A.
    Turk Kardiyol Dern Ars; 2024 Sep 24; 52(6):464-467. PubMed ID: 39225643
    [Abstract] [Full Text] [Related]

  • 19. 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]

  • 20. 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
    [Abstract] [Full Text] [Related]

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