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

212 related items for PubMed ID: 22791502

  • 1. TRPV4-associated skeletal dysplasias.
    Nishimura G, Lausch E, Savarirayan R, Shiba M, Spranger J, Zabel B, Ikegawa S, Superti-Furga A, Unger S.
    Am J Med Genet C Semin Med Genet; 2012 Aug 15; 160C(3):190-204. PubMed ID: 22791502
    [Abstract] [Full Text] [Related]

  • 2. TRPV4-pathy, a novel channelopathy affecting diverse systems.
    Dai J, Cho TJ, Unger S, Lausch E, Nishimura G, Kim OH, Superti-Furga A, Ikegawa S.
    J Hum Genet; 2010 Jul 15; 55(7):400-2. PubMed ID: 20505684
    [Abstract] [Full Text] [Related]

  • 3.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, McCray BA, Schindler A, Hoover-Fong JE, Sumner CJ.
    ; 1993 Jul 15. PubMed ID: 24830047
    [Abstract] [Full Text] [Related]

  • 4. Natural history of TRPV4-Related disorders: From skeletal dysplasia to neuromuscular phenotype.
    Ürel-Demir G, Şimşek-Kiper PÖ, Öncel İ, Utine GE, Haliloğlu G, Boduroğlu K.
    Eur J Paediatr Neurol; 2021 May 15; 32():46-55. PubMed ID: 33774370
    [Abstract] [Full Text] [Related]

  • 5. Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family.
    Dai J, Kim OH, Cho TJ, Schmidt-Rimpler M, Tonoki H, Takikawa K, Haga N, Miyoshi K, Kitoh H, Yoo WJ, Choi IH, Song HR, Jin DK, Kim HT, Kamasaki H, Bianchi P, Grigelioniene G, Nampoothiri S, Minagawa M, Miyagawa SI, Fukao T, Marcelis C, Jansweijer MC, Hennekam RC, Bedeschi F, Mustonen A, Jiang Q, Ohashi H, Furuichi T, Unger S, Zabel B, Lausch E, Superti-Furga A, Nishimura G, Ikegawa S.
    J Med Genet; 2010 Oct 15; 47(10):704-9. PubMed ID: 20577006
    [Abstract] [Full Text] [Related]

  • 6. 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 15; 158A(4):795-802. PubMed ID: 22419508
    [Abstract] [Full Text] [Related]

  • 7. TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families.
    Andreucci E, Aftimos S, Alcausin M, Haan E, Hunter W, Kannu P, Kerr B, McGillivray G, McKinlay Gardner RJ, Patricelli MG, Sillence D, Thompson E, Zacharin M, Zankl A, Lamandé SR, Savarirayan R.
    Orphanet J Rare Dis; 2011 Jun 09; 6():37. PubMed ID: 21658220
    [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 09; 84(3):307-15. PubMed ID: 19232556
    [Abstract] [Full Text] [Related]

  • 9. Fetal akinesia in metatropic dysplasia: The combined phenotype of chondrodysplasia and neuropathy?
    Unger S, Lausch E, Stanzial F, Gillessen-Kaesbach G, Stefanova I, Di Stefano CM, Bertini E, Dionisi-Vici C, Nilius B, Zabel B, Superti-Furga A.
    Am J Med Genet A; 2011 Nov 09; 155A(11):2860-4. PubMed ID: 21964829
    [Abstract] [Full Text] [Related]

  • 10. 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 09; 152A(6):1443-9. PubMed ID: 20503319
    [Abstract] [Full Text] [Related]

  • 11. Phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathy.
    Echaniz-Laguna A, Dubourg O, Carlier P, Carlier RY, Sabouraud P, Péréon Y, Chapon F, Thauvin-Robinet C, Laforêt P, Eymard B, Latour P, Stojkovic T.
    Neurology; 2014 May 27; 82(21):1919-26. PubMed ID: 24789864
    [Abstract] [Full Text] [Related]

  • 12. TRPV4 axonal neuropathy spectrum disorder.
    McEntagart M.
    J Clin Neurosci; 2012 Jul 27; 19(7):927-33. PubMed ID: 22617546
    [Abstract] [Full Text] [Related]

  • 13. Dominant TRPV4 mutations in nonlethal and lethal metatropic dysplasia.
    Camacho N, Krakow D, Johnykutty S, Katzman PJ, Pepkowitz S, Vriens J, Nilius B, Boyce BF, Cohn DH.
    Am J Med Genet A; 2010 May 27; 152A(5):1169-77. PubMed ID: 20425821
    [Abstract] [Full Text] [Related]

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

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

  • 16.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 17. Somatic mosaicism for a lethal TRPV4 mutation results in non-lethal metatropic dysplasia.
    Weinstein MM, Kang T, Lachman RS, Bamshad M, Nickerson DA, Krakow D, Cohn DH.
    Am J Med Genet A; 2016 Dec 27; 170(12):3298-3302. PubMed ID: 27530454
    [Abstract] [Full Text] [Related]

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

  • 19.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 20. Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia.
    Rock MJ, Prenen J, Funari VA, Funari TL, Merriman B, Nelson SF, Lachman RS, Wilcox WR, Reyno S, Quadrelli R, Vaglio A, Owsianik G, Janssens A, Voets T, Ikegawa S, Nagai T, Rimoin DL, Nilius B, Cohn DH.
    Nat Genet; 2008 Aug 27; 40(8):999-1003. PubMed ID: 18587396
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 11.