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PUBMED FOR HANDHELDS

Journal Abstract Search

158 related items for PubMed ID: 31862401

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  • 2. 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
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  • 3. 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
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  • 7. 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 12; 170(6):1556-63. PubMed ID: 26940150
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  • 8. Phenotype and response to growth hormone therapy in siblings with B4GALT7 deficiency.
    Sandler-Wilson C, Wambach JA, Marshall BA, Wegner DJ, McAlister W, Cole FS, Shinawi M.
    Bone; 2019 Jul 12; 124():14-21. PubMed ID: 30914273
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  • 9. A Case of Spondylodysplastic Ehlers-Danlos Syndrome With Comorbid Hypophosphatasia.
    Dattagupta A, Williamson S, El Nihum LI, Petak S.
    AACE Clin Case Rep; 2022 Jul 12; 8(6):255-258. PubMed ID: 36447830
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  • 10. 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 12; 84(7):583-94. PubMed ID: 16583246
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  • 11. Ehlers-Danlos syndrome associated with glycosaminoglycan abnormalities.
    Miyake N, Kosho T, Matsumoto N.
    Adv Exp Med Biol; 2014 Jul 12; 802():145-59. PubMed ID: 24443026
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  • 13. Alterations in glycosaminoglycan biosynthesis associated with the Ehlers-Danlos syndromes.
    Syx D, Delbaere S, Bui C, De Clercq A, Larson G, Mizumoto S, Kosho T, Fournel-Gigleux S, Malfait F.
    Am J Physiol Cell Physiol; 2022 Dec 01; 323(6):C1843-C1859. PubMed ID: 35993517
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  • 14. A case of Ehlers-Danlos syndrome presenting as short stature: a novel mutation in SLC39A13 causing spondylodysplastic Ehlers-Danlos syndrome.
    Agrawal P, Kaur H, Kondekar A, Rathi S.
    Oxf Med Case Reports; 2023 Jan 01; 2023(1):omac107. PubMed ID: 36727144
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  • 16. 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
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  • 18. Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome.
    Van Damme T, Pang X, Guillemyn B, Gulberti S, Syx D, De Rycke R, Kaye O, de Die-Smulders CEM, Pfundt R, Kariminejad A, Nampoothiri S, Pierquin G, Bulk S, Larson AA, Chatfield KC, Simon M, Legrand A, Gerard M, Symoens S, Fournel-Gigleux S, Malfait F.
    Hum Mol Genet; 2018 Oct 15; 27(20):3475-3487. PubMed ID: 29931299
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  • 19. Changes in heparan sulfate are associated with delayed wound repair, altered cell migration, adhesion and contractility in the galactosyltransferase I (beta4GalT-7) deficient form of Ehlers-Danlos syndrome.
    Götte M, Spillmann D, Yip GW, Versteeg E, Echtermeyer FG, van Kuppevelt TH, Kiesel L.
    Hum Mol Genet; 2008 Apr 01; 17(7):996-1009. PubMed ID: 18158310
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  • 20. 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
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