BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

123 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 7.