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Journal Abstract Search

303 related items for PubMed ID: 31614862

  • 1. 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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  • 3. 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 12; 185(10):3153-3160. PubMed ID: 34159694
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  • 7. Further Defining the Phenotypic Spectrum of B3GAT3 Mutations and Literature Review on Linkeropathy Syndromes.
    Ritelli M, Cinquina V, Giacopuzzi E, Venturini M, Chiarelli N, Colombi M.
    Genes (Basel); 2019 Aug 21; 10(9):. PubMed ID: 31438591
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  • 11. A Case of Spondylodysplastic Ehlers-Danlos Syndrome With Comorbid Hypophosphatasia.
    Dattagupta A, Williamson S, El Nihum LI, Petak S.
    AACE Clin Case Rep; 2022 Aug 21; 8(6):255-258. PubMed ID: 36447830
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  • 12. 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 21; 170(6):1556-63. PubMed ID: 26940150
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  • 16. A novel missense mutation in the galactosyltransferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers-Danlos syndrome resembling the progeroid type.
    Faiyaz-Ul-Haque M, Zaidi SH, Al-Ali M, Al-Mureikhi MS, Kennedy S, Al-Thani G, Tsui LC, Teebi AS.
    Am J Med Genet A; 2004 Jul 01; 128A(1):39-45. PubMed ID: 15211654
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  • 17. Insights in the etiopathology of galactosyltransferase II (GalT-II) deficiency from transcriptome-wide expression profiling of skin fibroblasts of two sisters with compound heterozygosity for two novel B3GALT6 mutations.
    Ritelli M, Chiarelli N, Zoppi N, Dordoni C, Quinzani S, Traversa M, Venturini M, Calzavara-Pinton P, Colombi M.
    Mol Genet Metab Rep; 2015 Mar 01; 2():1-15. PubMed ID: 28649518
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