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.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

118 related articles for article (PubMed ID: 26823048)

  • 1. Metatropic dysplasia is associated with increased fracture risk.
    Bober MB; Duker AL; Carney M; Ditro CP; Rogers K; Mackenzie WG
    Am J Med Genet A; 2016 May; 170A(5):1373-6. PubMed ID: 26823048
    [No Abstract]   [Full Text] [Related]  

  • 2. Metatropic Dysplasia with a Novel Mutation in TRPV4.
    Narayanan DL; Bhavani GS; Girisha KM; Phadke SR
    Indian Pediatr; 2016 Aug; 53(8):735-7. PubMed ID: 27567651
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Metatropic dysplasia in third trimester of pregnancy and a novel causative variant in the TRPV4 gene.
    Bargiacchi S; Della Monica M; Biagiotti R; Andreucci E; Ciabattoni S; Poggi P; Di Maurizio M; Defilippi C; Cariati E; Giglio S
    Eur J Med Genet; 2017 Jul; 60(7):365-368. PubMed ID: 28414187
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [Metatropic dysplasia in a girl with c.1811_1812delinsAT mutation in exon 11 of the TRPV4 gene not previously reported].
    Cammarata-Scalisi F; Matysiak-Scholze U; Heinze J; Barrera A; Lacruz-Rengel MA; Bracho A; Guerrero Y
    Arch Argent Pediatr; 2015 Jan; 113(1):e10-3. PubMed ID: 25622169
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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; 170(12):3298-3302. PubMed ID: 27530454
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A mutation in TRPV4 results in altered chondrocyte calcium signaling in severe metatropic dysplasia.
    Hurd L; Kirwin SM; Boggs M; Mackenzie WG; Bober MB; Funanage VL; Duncan RL
    Am J Med Genet A; 2015 Oct; 167A(10):2286-93. PubMed ID: 26249260
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Accelerated osteoblastic differentiation in patient-derived dental pulp stem cells carrying a gain-of-function mutation of TRPV4 associated with metatropic dysplasia.
    Han X; Kato H; Sato H; Hirofuji Y; Fukumoto S; Masuda K
    Biochem Biophys Res Commun; 2020 Mar; 523(4):841-846. PubMed ID: 31954514
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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; 47(10):704-9. PubMed ID: 20577006
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Metatropic Dysplasia of Nonlethal Variant in a Chinese Child - A Case Report.
    Tchio Tchoumba MA; Bai Y; Jin R; Yu X; Male M
    Orthop Surg; 2020 Feb; 12(1):333-336. PubMed ID: 31808622
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Campomelic dysplasia: case report and review.
    Gimovsky M; Rosa E; Tolbert T; Guzman G; Nazir M; Koscica K
    J Perinatol; 2008 Jan; 28(1):71-3. PubMed ID: 18165831
    [TBL] [Abstract][Full Text] [Related]  

  • 11. [Metatropic dysplasia as the cause of atlantoaxial instability, spinal stenosis and myelopathy: case report and literature review].
    Barna M; Stulík J; Fencl F
    Acta Chir Orthop Traumatol Cech; 2012; 79(2):169-74. PubMed ID: 22538111
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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; 6():37. PubMed ID: 21658220
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [Metatropic dysplasia: two cases in siblings].
    Ech-Cherif El Kettani N; Chat L; Najid A; Dafiri R
    Arch Pediatr; 2003 Nov; 10(11):989-93. PubMed ID: 14613694
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Metatropic dwarfism, the Kniest syndrome and the pseudoachondroplastic dysplasias.
    Rimoin DL; Siggers DC; Lachman RS; Silberberg R
    Clin Orthop Relat Res; 1976; (114):70-82. PubMed ID: 177239
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Chondrodystrophic dwarfism and multiple malformations in two sisters.
    Pazzaglia UE; Pedrotti L; Beluffi G; Ceciliani L
    Pediatr Radiol; 1988; 19(1):41-4. PubMed ID: 3222061
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Schmid Type Metaphyseal Chondrodysplasia with a Novel COL10A1 Mutation.
    Goyal M; Gupta A; Choudhary A; Bhandari A
    Indian J Pediatr; 2019 Feb; 86(2):183-185. PubMed ID: 30209734
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Mesomelic dwarfism as the homozygous expression of dyschondrosteosis.
    Espiritu C; Chen H; Woolley PV
    Am J Dis Child; 1975 Mar; 129(3):375-7. PubMed ID: 1121969
    [No Abstract]   [Full Text] [Related]  

  • 19. Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia.
    Barraza-García J; Rivera-Pedroza CI; Hisado-Oliva A; Belinchón-Martínez A; Sentchordi-Montané L; Duncan EL; Clark GR; Del Pozo A; Ibáñez-Garikano K; Offiah A; Prieto-Matos P; Cormier-Daire V; Heath KE
    Clin Genet; 2017 Jul; 92(1):91-98. PubMed ID: 28067412
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Human skeletal dysplasia caused by a constitutive activated transient receptor potential vanilloid 4 (TRPV4) cation channel mutation.
    Kang SS; Shin SH; Auh CK; Chun J
    Exp Mol Med; 2012 Dec; 44(12):707-22. PubMed ID: 23143559
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.