These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

200 related items for PubMed ID: 33774370

  • 1.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 2.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, McCray BA, Schindler A, Hoover-Fong JE, Sumner CJ.
    ; 1993. PubMed ID: 24830047
    [Abstract] [Full Text] [Related]

  • 3. TRPV4-pathy manifesting both skeletal dysplasia and peripheral neuropathy: a report of three patients.
    Cho TJ, Matsumoto K, Fano V, Dai J, Kim OH, Chae JH, Yoo WJ, Tanaka Y, Matsui Y, Takigami I, Monges S, Zabel B, Shimizu K, Nishimura G, Lausch E, Ikegawa S.
    Am J Med Genet A; 2012 Apr; 158A(4):795-802. PubMed ID: 22419508
    [Abstract] [Full Text] [Related]

  • 4.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 5.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 6.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 7.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 8. Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia.
    Krakow D, Vriens J, Camacho N, Luong P, Deixler H, Funari TL, Bacino CA, Irons MB, Holm IA, Sadler L, Okenfuss EB, Janssens A, Voets T, Rimoin DL, Lachman RS, Nilius B, Cohn DH.
    Am J Hum Genet; 2009 Mar; 84(3):307-15. PubMed ID: 19232556
    [Abstract] [Full Text] [Related]

  • 9. Combined Phenotypes of Spondylometaphyseal Dysplasia-Kozlowski Type and Charcot-Marie-Tooth Disease Type 2C Secondary to a TRPV4 Pathogenic Variant.
    Faye E, Modaff P, Pauli R, Legare J.
    Mol Syndromol; 2019 May; 10(3):154-160. PubMed ID: 31191204
    [Abstract] [Full Text] [Related]

  • 10. Spondyloepimetaphyseal dysplasia-Maroteaux type due to dominant TRPV4 mutation: expanding the phenotype with a case report.
    Uzman CY, Çankaya T, Güleryüz H, Ülgenalp A, Bozkaya ÖG.
    Skeletal Radiol; 2023 Jan; 52(1):115-118. PubMed ID: 35776137
    [Abstract] [Full Text] [Related]

  • 11. Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations.
    Nishimura G, Dai J, Lausch E, Unger S, Megarbané A, Kitoh H, Kim OH, Cho TJ, Bedeschi F, Benedicenti F, Mendoza-Londono R, Silengo M, Schmidt-Rimpler M, Spranger J, Zabel B, Ikegawa S, Superti-Furga A.
    Am J Med Genet A; 2010 Jun; 152A(6):1443-9. PubMed ID: 20503319
    [Abstract] [Full Text] [Related]

  • 12.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 13. Incidence and Clinical Features of TRPV4-Linked Axonal Neuropathies in a USA Cohort of Charcot-Marie-Tooth Disease Type 2.
    Deng S, Feely SME, Shi Y, Zhai H, Zhan L, Siddique T, Deng HX, Shy ME.
    Neuromolecular Med; 2020 Mar; 22(1):68-72. PubMed ID: 31468327
    [Abstract] [Full Text] [Related]

  • 14.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 15.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 16. Protein informatics combined with multiple data sources enriches the clinical characterization of novel TRPV4 variant causing an intermediate skeletal dysplasia.
    Hines SL, Richter JE, Mohammad AN, Mahim J, Atwal PS, Caulfield TR.
    Mol Genet Genomic Med; 2019 Mar; 7(3):e566. PubMed ID: 30693671
    [Abstract] [Full Text] [Related]

  • 17.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 18.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 19. A TRPV4 mutation caused Charcot-Marie-Tooth disease type 2C with scapuloperoneal muscular atrophy overlap syndrome and scapuloperoneal spinal muscular atrophy in one family: a case report and literature review.
    Chen H, Sun C, Zheng Y, Yin J, Gao M, Zhao C, Lin J.
    BMC Neurol; 2023 Jun 30; 23(1):250. PubMed ID: 37391745
    [Abstract] [Full Text] [Related]

  • 20. The remarkable phenotypic variability of the p.Arg269HiS variant in the TRPV4 gene.
    Jędrzejowska M, Dębek E, Kowalczyk B, Halat P, Kostera-Pruszczyk A, Ciara E, Jezela-Stanek A, Rydzanicz M, Gasperowicz P, Gos M.
    Muscle Nerve; 2019 Jan 30; 59(1):129-133. PubMed ID: 30230566
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 10.