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.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

231 related items for PubMed ID: 15211654

  • 1.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 2. Further defining the phenotypic spectrum of B4GALT7 mutations.
    Salter CG, Davies JH, Moon RJ, Fairhurst J, Bunyan D, DDD Study, Foulds N.
    Am J Med Genet A; 2016 Jun; 170(6):1556-63. PubMed ID: 26940150
    [Abstract] [Full Text] [Related]

  • 3. Redefining the progeroid form of Ehlers-Danlos syndrome: report of the fourth patient with B4GALT7 deficiency and review of the literature.
    Guo MH, Stoler J, Lui J, Nilsson O, Bianchi DW, Hirschhorn JN, Dauber A.
    Am J Med Genet A; 2013 Oct; 161A(10):2519-27. PubMed ID: 23956117
    [Abstract] [Full Text] [Related]

  • 4. Defective glycosylation of decorin and biglycan, altered collagen structure, and abnormal phenotype of the skin fibroblasts of an Ehlers-Danlos syndrome patient carrying the novel Arg270Cys substitution in galactosyltransferase I (beta4GalT-7).
    Seidler DG, Faiyaz-Ul-Haque M, Hansen U, Yip GW, Zaidi SH, Teebi AS, Kiesel L, Götte M.
    J Mol Med (Berl); 2006 Jul; 84(7):583-94. PubMed ID: 16583246
    [Abstract] [Full Text] [Related]

  • 5. Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic-EDS-B3GALT6.
    Caraffi SG, Maini I, Ivanovski I, Pollazzon M, Giangiobbe S, Valli M, Rossi A, Sassi S, Faccioli S, Rocco MD, Magnani C, Campos-Xavier B, Unger S, Superti-Furga A, Garavelli L.
    Genes (Basel); 2019 Oct 12; 10(10):. PubMed ID: 31614862
    [Abstract] [Full Text] [Related]

  • 6. Ehlers-Danlos syndrome associated with glycosaminoglycan abnormalities.
    Miyake N, Kosho T, Matsumoto N.
    Adv Exp Med Biol; 2014 Oct 12; 802():145-59. PubMed ID: 24443026
    [Abstract] [Full Text] [Related]

  • 7. Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome.
    Ritelli M, Dordoni C, Cinquina V, Venturini M, Calzavara-Pinton P, Colombi M.
    Orphanet J Rare Dis; 2017 Sep 07; 12(1):153. PubMed ID: 28882145
    [Abstract] [Full Text] [Related]

  • 8.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 9. Ehlers Danlos Syndrome with Glycosaminoglycan Abnormalities.
    Miyake N, Kosho T, Matsumoto N.
    Adv Exp Med Biol; 2021 Sep 07; 1348():235-249. PubMed ID: 34807422
    [Abstract] [Full Text] [Related]

  • 10. Hypomorphic zebrafish models mimic the musculoskeletal phenotype of β4GalT7-deficient Ehlers-Danlos syndrome.
    Delbaere S, Van Damme T, Syx D, Symoens S, Coucke P, Willaert A, Malfait F.
    Matrix Biol; 2020 Jul 07; 89():59-75. PubMed ID: 31862401
    [Abstract] [Full Text] [Related]

  • 11. Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlos-syndrome-like connective tissue disorder.
    Malfait F, Kariminejad A, Van Damme T, Gauche C, Syx D, Merhi-Soussi F, Gulberti S, Symoens S, Vanhauwaert S, Willaert A, Bozorgmehr B, Kariminejad MH, Ebrahimiadib N, Hausser I, Huysseune A, Fournel-Gigleux S, De Paepe A.
    Am J Hum Genet; 2013 Jun 06; 92(6):935-45. PubMed ID: 23664118
    [Abstract] [Full Text] [Related]

  • 12.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 13. Dwarfism with joint laxity in Friesian horses is associated with a splice site mutation in B4GALT7.
    Leegwater PA, Vos-Loohuis M, Ducro BJ, Boegheim IJ, van Steenbeek FG, Nijman IJ, Monroe GR, Bastiaansen JW, Dibbits BW, van de Goor LH, Hellinga I, Back W, Schurink A.
    BMC Genomics; 2016 Oct 28; 17(1):839. PubMed ID: 27793082
    [Abstract] [Full Text] [Related]

  • 14.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 15. Molecular characterization of β1,4-galactosyltransferase 7 genetic mutations linked to the progeroid form of Ehlers-Danlos syndrome (EDS).
    Bui C, Talhaoui I, Chabel M, Mulliert G, Coughtrie MW, Ouzzine M, Fournel-Gigleux S.
    FEBS Lett; 2010 Sep 24; 584(18):3962-8. PubMed ID: 20691685
    [Abstract] [Full Text] [Related]

  • 16. A family with Classical Ehlers-Danlos Syndrome (cEDS), mild bone fragility and without vascular complications, caused by the p.Arg312Cys mutation in COL1A1.
    Duong J, Rideout A, MacKay S, Beis J, Parkash S, Schwarze U, Horne SG, Vandersteen A.
    Eur J Med Genet; 2020 Feb 24; 63(2):103730. PubMed ID: 31323331
    [Abstract] [Full Text] [Related]

  • 17. Molecular basis for the progeroid variant of Ehlers-Danlos syndrome. Identification and characterization of two mutations in galactosyltransferase I gene.
    Okajima T, Fukumoto S, Furukawa K, Urano T.
    J Biol Chem; 1999 Oct 08; 274(41):28841-4. PubMed ID: 10506123
    [Abstract] [Full Text] [Related]

  • 18. Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome.
    Sheen VL, Jansen A, Chen MH, Parrini E, Morgan T, Ravenscroft R, Ganesh V, Underwood T, Wiley J, Leventer R, Vaid RR, Ruiz DE, Hutchins GM, Menasha J, Willner J, Geng Y, Gripp KW, Nicholson L, Berry-Kravis E, Bodell A, Apse K, Hill RS, Dubeau F, Andermann F, Barkovich J, Andermann E, Shugart YY, Thomas P, Viri M, Veggiotti P, Robertson S, Guerrini R, Walsh CA.
    Neurology; 2005 Jan 25; 64(2):254-62. PubMed ID: 15668422
    [Abstract] [Full Text] [Related]

  • 19.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 20.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 12.