BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

166 related articles for article (PubMed ID: 18704262)

  • 1. 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]  

  • 2. 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]  

  • 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. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 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. 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]  

  • 11. 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]  

  • 12. 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]  

  • 13. Caffey disease: new perspectives on old questions.
    Nistala H; Mäkitie O; Jüppner H
    Bone; 2014 Mar; 60():246-51. PubMed ID: 24389367
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Familial infantile cortical hyperostosis: an update.
    Newberg AH; Tampas JP
    AJR Am J Roentgenol; 1981 Jul; 137(1):93-6. PubMed ID: 6787897
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Fetuin-A deficiency is associated with infantile cortical hyperostosis (Caffey disease).
    Merdler-Rabinowicz R; Grinberg A; Jacobson JM; Somekh I; Klein C; Lev A; Ihsan S; Habib A; Somech R; Simon AJ
    Pediatr Res; 2019 Nov; 86(5):603-607. PubMed ID: 31288248
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Case report 363: Infantile cortical hyperostosis (Caffey disease ICH) iliac bones, femora, tibiae and left fibula.
    Langer R; Kaufmann HJ
    Skeletal Radiol; 1986; 15(5):377-82. PubMed ID: 3526563
    [No Abstract]   [Full Text] [Related]  

  • 19. Infantile cortical hyperostosis of the ribs (Caffey's disease) without mandibular involvement.
    Gentry RR; Rust RS; Lohr JA; Alford BA
    Pediatr Radiol; 1983; 13(4):236-8. PubMed ID: 6351005
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Caffey disease (infantile cortical hyperostosis). Apropos of a familial form].
    Castel Y; Toudic L; Crenn P; Le Fur JM
    Ann Pediatr (Paris); 1985 Feb; 32(2):143-7. PubMed ID: 3883874
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 9.