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Journal Abstract Search

314 related items for PubMed ID: 23956117

  • 1.
    ; . PubMed ID:
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  • 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
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  • 3. Report of two siblings with spondylodysplastic Ehlers-Danlos syndrome and B4GALT7 deficiency.
    Lorenz D, Kress W, Zaum AK, Speer CP, Hebestreit H.
    BMC Pediatr; 2021 Jun 30; 21(1):293. PubMed ID: 34193099
    [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 30; 84(7):583-94. PubMed ID: 16583246
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  • 6. 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 30; 124():14-21. PubMed ID: 30914273
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  • 7. Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome.
    Cartault F, Munier P, Jacquemont ML, Vellayoudom J, Doray B, Payet C, Randrianaivo H, Laville JM, Munnich A, Cormier-Daire V.
    Eur J Hum Genet; 2015 Jan 30; 23(1):49-53. PubMed ID: 24755949
    [Abstract] [Full Text] [Related]

  • 8. 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 30; 89():59-75. PubMed ID: 31862401
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  • 9. 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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  • 10. 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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  • 11. 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
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  • 12. Ehlers-Danlos syndrome associated with glycosaminoglycan abnormalities.
    Miyake N, Kosho T, Matsumoto N.
    Adv Exp Med Biol; 2014 Sep 07; 802():145-59. PubMed ID: 24443026
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  • 13. 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
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  • 14. Galactosyltransferase I is a gene responsible for progeroid variant of Ehlers-Danlos syndrome: molecular cloning and identification of mutations.
    Furukawa K, Okajima T.
    Biochim Biophys Acta; 2002 Dec 19; 1573(3):377-81. PubMed ID: 12417421
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  • 15. Prenatal and neonatal phenotype of Larsen of La Réunion Island syndrome (B4GALT7-linkeropathy).
    Alessandri JL, Celse T, Spodenkiewicz M, Calaya A, Dumont C, Jacquemont ML, Bertaut-Nativel B, Boumahni B, Rémy M, Ferroul F, Guilly S, Huby T, Irabé M, Laurens T, Munier P, Morel G, Payet F, Randrianaivo H, Doray B, Dospeux J.
    Eur J Med Genet; 2024 Jun 19; 69():104940. PubMed ID: 38705458
    [Abstract] [Full Text] [Related]

  • 16. Broadening the phenotypic spectrum of Beta3GalT6-associated phenotypes.
    Leoni C, Tedesco M, Radio FC, Chillemi G, Leone A, Bruselles A, Ciolfi A, Stellacci E, Pantaleoni F, Butera G, Rigante D, Onesimo R, Tartaglia M, Zampino G.
    Am J Med Genet A; 2021 Oct 19; 185(10):3153-3160. PubMed ID: 34159694
    [Abstract] [Full Text] [Related]

  • 17. 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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  • 18. 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
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  • 19. Defective glycosaminoglycan substitution of decorin in a patient with progeroid syndrome is a direct consequence of two point mutations in the galactosyltransferase I (beta4GalT-7) gene.
    Götte M, Kresse H.
    Biochem Genet; 2005 Feb 24; 43(1-2):65-77. PubMed ID: 15859521
    [Abstract] [Full Text] [Related]

  • 20. Biochemical and thermodynamic characterization of mutated β1,4-galactosyltransferase 7 involved in the progeroid form of the Ehlers-Danlos syndrome.
    Rahuel-Clermont S, Daligault F, Piet MH, Gulberti S, Netter P, Branlant G, Magdalou J, Lattard V.
    Biochem J; 2010 Dec 01; 432(2):303-11. PubMed ID: 20809901
    [Abstract] [Full Text] [Related]

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