BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

156 related articles for article (PubMed ID: 24390061)

  • 1. Two Japanese familial cases of Caffey disease with and without the common COL1A1 mutation and normal bone density, and review of the literature.
    Kitaoka T; Miyoshi Y; Namba N; Miura K; Kubota T; Ohata Y; Fujiwara M; Takagi M; Hasegawa T; Jüppner H; Ozono K
    Eur J Pediatr; 2014 Jun; 173(6):799-804. PubMed ID: 24390061
    [TBL] [Abstract][Full Text] [Related]  

  • 2. The c.3040C > T mutation in COL1A1 is recurrent in Korean patients with infantile cortical hyperostosis (Caffey disease).
    Cho TJ; Moon HJ; Cho DY; Park MS; Lee DY; Yoo WJ; Chung CY; Choi IH
    J Hum Genet; 2008; 53(10):947. PubMed ID: 18704262
    [TBL] [Abstract][Full Text] [Related]  

  • 3. COL1A1 mutation in an Indian child with Caffey disease.
    Ranganath P; Laine CM; Gupta D; Mäkitie O; Phadke SR
    Indian J Pediatr; 2011 Jul; 78(7):877-9. PubMed ID: 21249479
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders.
    Gensure RC; Mäkitie O; Barclay C; Chan C; Depalma SR; Bastepe M; Abuzahra H; Couper R; Mundlos S; Sillence D; Ala Kokko L; Seidman JG; Cole WG; Jüppner H
    J Clin Invest; 2005 May; 115(5):1250-7. PubMed ID: 15864348
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Hyperostosis in siblings.
    Spranger JW; Lausch E
    S Afr Med J; 2016 May; 106(6 Suppl 1):S98-9. PubMed ID: 27245539
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Expanding the phenotypic spectrum of Caffey disease.
    Suphapeetiporn K; Tongkobpetch S; Mahayosnond A; Shotelersuk V
    Clin Genet; 2007 Mar; 71(3):280-4. PubMed ID: 17309652
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Recurrence of infantile cortical hyperostosis: a case report and review of the literature.
    Navarre P; Pehlivanov I; Morin B
    J Pediatr Orthop; 2013 Mar; 33(2):e10-7. PubMed ID: 23389580
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Caffey disease is associated with distinct arginine to cysteine substitutions in the proα1(I) chain of type I procollagen.
    Dhooge T; Syx D; Hermanns-Lê T; Hausser I; Mortier G; Zonana J; Symoens S; Byers PH; Malfait F
    Genet Med; 2021 Dec; 23(12):2378-2385. PubMed ID: 34272483
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Caffey disease: an unlikely collagenopathy.
    Glorieux FH
    J Clin Invest; 2005 May; 115(5):1142-4. PubMed ID: 15864344
    [TBL] [Abstract][Full Text] [Related]  

  • 10. The IFITM5 Ser40Leu variant can manifest as prenatal Caffey disease.
    Yap JYC; Lim JY; Bhatia A; Tan VKJ; Koo S; Nishimura G; Moosa S; Koh AL; Tan EC; Fong N; Jamuar SS
    Am J Med Genet A; 2024 Feb; 194(2):358-362. PubMed ID: 37799085
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Familial occurrence of Caffey-Silverman syndrome.
    Szwed A; Kołban M; Romanowska H; Baryła-Pankiewicz E
    Ortop Traumatol Rehabil; 2012; 14(1):75-83. PubMed ID: 22408114
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Prenatal cortical hyperostosis with COL1A1 gene mutation.
    Kamoun-Goldrat A; Martinovic J; Saada J; Sonigo-Cohen P; Razavi F; Munnich A; Le Merrer M
    Am J Med Genet A; 2008 Jul; 146A(14):1820-4. PubMed ID: 18553566
    [TBL] [Abstract][Full Text] [Related]  

  • 13. The identification of novel mutations in COL1A1, COL1A2, and LEPRE1 genes in Chinese patients with osteogenesis imperfecta.
    Zhang ZL; Zhang H; Ke YH; Yue H; Xiao WJ; Yu JB; Gu JM; Hu WW; Wang C; He JW; Fu WZ
    J Bone Miner Metab; 2012 Jan; 30(1):69-77. PubMed ID: 21667357
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Infantile cortical hyperostosis and COL1A1 mutation in four generations.
    Cerruti-Mainardi P; Venturi G; Spunton M; Favaron E; Zignani M; Provera S; Dallapiccola B
    Eur J Pediatr; 2011 Nov; 170(11):1385-90. PubMed ID: 21567126
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Radiographic overlap of recurrent Caffey disease and chronic recurrent multifocal osteomyelitis (CRMO) with considerations of molecular origins.
    Chapman T; Menashe SJ; Taragin BH
    Pediatr Radiol; 2020 May; 50(5):618-627. PubMed ID: 31873763
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Infantile cortical hyperostosis (Caffey disease): a review.
    Kamoun-Goldrat A; le Merrer M
    J Oral Maxillofac Surg; 2008 Oct; 66(10):2145-50. PubMed ID: 18848116
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Familial infantile cortical hyperostosis.
    Emmery L; Timmermans J; Christens J; Fryns JP
    Eur J Pediatr; 1983 Oct; 141(1):56-8. PubMed ID: 6357801
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Familial mutation in Caffey disease with reduced penetrance: A case report.
    Özdemir ÖMA; Tancer-Elçi H; Polat A; Güçtürk İ; Tepeli E; Zeybek S; Ayaz A
    Turk J Pediatr; 2016; 58(6):650-653. PubMed ID: 29090879
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Autosomal dominant inheritance with incomplete penetrance of Caffey disease (infantile cortical hyperostosis).
    Fried K; Manor A; Pajewski M; Starinsky R; Vure E
    Clin Genet; 1981 Apr; 19(4):271-4. PubMed ID: 7023758
    [No Abstract]   [Full Text] [Related]  

  • 20. [Mutation analysis and prenatal diagnosis of COL1A1 gene in a Chinese family with type I osteogenesis imperfecta].
    Zhang H; Wu D; Hou Q; Liu Z; Qin L; Liao S
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2014 Dec; 31(6):730-2. PubMed ID: 25449076
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.