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Journal Abstract Search

215 related items for PubMed ID: 14684697

  • 1. Greenberg dysplasia (HEM) and lethal X linked dominant Conradi-Hünermann chondrodysplasia punctata (CDPX2): presentation of two cases with overlapping phenotype.
    Offiah AC, Mansour S, Jeffrey I, Nash R, Whittock N, Pyper R, Bewley S, Clayton PT, Hall CM.
    J Med Genet; 2003 Dec; 40(12):e129. PubMed ID: 14684697
    [No Abstract] [Full Text] [Related]

  • 2. Serum lipid analysis confirms the diagnosis of X-linked dominant chondrodysplasia punctata - Conradi-Hünermann-Happle syndrome.
    Lindenthal B, Repgen R, Emons D, Lentze MJ, von Bergmann K, Lütjohann D.
    Klin Padiatr; 2004 Dec; 216(2):67-9. PubMed ID: 15106076
    [Abstract] [Full Text] [Related]

  • 3. Ichthyosis and keratotic follicular plugs containing dystrophic calcification in newborns: distinctive histopathologic features of x-linked dominant chondrodysplasia punctata (Conradi-Hünermann-Happle syndrome).
    Hoang MP, Carder KR, Pandya AG, Bennett MJ.
    Am J Dermatopathol; 2004 Feb; 26(1):53-8. PubMed ID: 14726822
    [Abstract] [Full Text] [Related]

  • 4. [Prenatal diagnosis of skeletal dysplasia in first trimester of pregnancy X-linked dominant chondrodysplasia punctata].
    Polák P, Baxová A, Křepelová A, Balák M.
    Ceska Gynekol; 2014 Jun; 79(3):193-7. PubMed ID: 25054955
    [Abstract] [Full Text] [Related]

  • 5. Adult presentation of X-linked Conradi-Hünermann-Happle syndrome.
    Posey JE, Burrage LC, Campeau PM, Lu JT, Eble TN, Kratz L, Schlesinger AE, Gibbs RA, Lee BH, Nagamani SC.
    Am J Med Genet A; 2015 Jun; 167(6):1309-14. PubMed ID: 25846959
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  • 6. Detailed ultrasonographic findings in Greenberg dysplasia.
    Madazli R, Aksoy F, Ocak V, Atasü T.
    Prenat Diagn; 2001 Jan; 21(1):65-7. PubMed ID: 11180245
    [Abstract] [Full Text] [Related]

  • 7. Clinical, molecular and biochemical characterization of nine Spanish families with Conradi-Hünermann-Happle syndrome: new insights into X-linked dominant chondrodysplasia punctata with a comprehensive review of the literature.
    Cañueto J, Girós M, Ciria S, Pi-Castán G, Artigas M, García-Dorado J, García-Patos V, Virós A, Vendrell T, Torrelo A, Hernández-Martín A, Martín-Hernández E, Garcia-Silva MT, Fernández-Burriel M, Rosell J, Tejedor M, Martínez F, Valero J, García JL, Sánchez-Tapia EM, Unamuno P, González-Sarmiento R.
    Br J Dermatol; 2012 Apr; 166(4):830-8. PubMed ID: 22121851
    [Abstract] [Full Text] [Related]

  • 8. Conradi-Hünermann-Happle syndrome.
    Hartman RD, Molho-Pessach V, Schaffer JV.
    Dermatol Online J; 2010 Nov 15; 16(11):4. PubMed ID: 21163155
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  • 10. Guess what! X-linked dominant chondrodysplasia punctata (Conradi-Hünermann-Happle Syndrome).
    Krisp A, König A, Hoffmann R, Happle R.
    Eur J Dermatol; 2001 Nov 15; 11(4):389-91. PubMed ID: 11458930
    [No Abstract] [Full Text] [Related]

  • 11. The role of the abnormalities in the distal pathway of cholesterol biosynthesis in the Conradi-Hünermann-Happle syndrome.
    Cañueto J, Girós M, González-Sarmiento R.
    Biochim Biophys Acta; 2014 Mar 15; 1841(3):336-44. PubMed ID: 24036494
    [Abstract] [Full Text] [Related]

  • 12. Novel and recurrent EBP mutations in X-linked dominant chondrodysplasia punctata.
    Ikegawa S, Ohashi H, Ogata T, Honda A, Tsukahara M, Kubo T, Kimizuka M, Shimode M, Hasegawa T, Nishimura G, Nakamura Y.
    Am J Med Genet; 2000 Oct 02; 94(4):300-5. PubMed ID: 11038443
    [Abstract] [Full Text] [Related]

  • 13. A severely affected female infant with x-linked dominant chondrodysplasia punctata: a case report and a brief review of the literature.
    Rakheja D, Read CP, Hull D, Boriack RL, Timmons CF.
    Pediatr Dev Pathol; 2007 Oct 02; 10(2):142-8. PubMed ID: 17378690
    [Abstract] [Full Text] [Related]

  • 14. The nature of cartilage stippling in chondrodysplasia punctata: histopathological study of Conradi-Hünermann syndrome.
    Pazzaglia UE, Zarattini G, Donzelli C, Benetti A, Bondioni MP, Groli C.
    Fetal Pediatr Pathol; 2008 Oct 02; 27(2):71-81. PubMed ID: 18568995
    [Abstract] [Full Text] [Related]

  • 15. [Conradi-Hünermann-Happle syndrome with unilateral distribution].
    Hello M, David A, Barbarot S.
    Ann Dermatol Venereol; 2010 Jan 02; 137(1):44-7. PubMed ID: 20110068
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  • 17. Conradi-Hünermann-Happle syndrome: a novel heterozygous missense mutation, c.204G>T (p.W68C).
    Lambrecht C, Wouters C, Van Esch H, Moens P, Casteels I, Morren MA.
    Pediatr Dermatol; 2014 Jan 02; 31(4):493-6. PubMed ID: 24915996
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