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Journal Abstract Search

110 related items for PubMed ID: 29443383

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  • 4. 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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  • 5. A newborn with complex skeletal abnormalities, joint contractures, and bilateral corneal clouding with sclerocornea.
    Sellars EA, Bosanko KA, Lepard T, Garnica A, Schaefer GB.
    Semin Pediatr Neurol; 2014 Jun 12; 21(2):84-7. PubMed ID: 25149931
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  • 6. Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders.
    Nakajima M, Mizumoto S, Miyake N, Kogawa R, Iida A, Ito H, Kitoh H, Hirayama A, Mitsubuchi H, Miyazaki O, Kosaki R, Horikawa R, Lai A, Mendoza-Londono R, Dupuis L, Chitayat D, Howard A, Leal GF, Cavalcanti D, Tsurusaki Y, Saitsu H, Watanabe S, Lausch E, Unger S, Bonafé L, Ohashi H, Superti-Furga A, Matsumoto N, Sugahara K, Nishimura G, Ikegawa S.
    Am J Hum Genet; 2013 Jun 06; 92(6):927-34. PubMed ID: 23664117
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  • 7. 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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  • 8. 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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  • 9. Anterior segment anomalies of the eye associated with multiple skeletal abnormalities and early lethality: confirmation of an autosomal recessive syndrome.
    al-Gazali LI, Bakir M, Sadaghatian MR, Nath R, Haas D.
    Clin Dysmorphol; 1999 Apr 07; 8(2):87-92. PubMed ID: 10319196
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  • 10. Ehlers Danlos Syndrome with Glycosaminoglycan Abnormalities.
    Miyake N, Kosho T, Matsumoto N.
    Adv Exp Med Biol; 2021 Apr 07; 1348():235-249. PubMed ID: 34807422
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  • 11. Further delineation of Al-Gazali syndrome (multiple skeletal abnormalities with anterior segment anomalies of the eye and early lethality) in a Malaysian family.
    Thong MK, Chan LG, Ting HS.
    Clin Dysmorphol; 2005 Jan 07; 14(1):1-5. PubMed ID: 15602085
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  • 12. B3GALT6-linkeropathy: Three illustrative patients spanning the disease spectrum.
    Coetzer KC, Dieckerhoff J, Wollnik B, Moosa S.
    Eur J Med Genet; 2023 Oct 07; 66(10):104829. PubMed ID: 37657630
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  • 13. 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 07; 2():1-15. PubMed ID: 28649518
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  • 14. Macrocephaly with multiple epiphyseal dysplasia: a second example of Al Gazali-Bakalinova syndrome?
    Karaer K, Rosti RO, Torun D, Sanal HT, Guran S.
    Genet Couns; 2012 Mar 07; 23(4):457-63. PubMed ID: 23431744
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  • 15. Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders.
    Batkovskyte D, McKenzie F, Taylan F, Simsek-Kiper PO, Nikkel SM, Ohashi H, Stevenson RE, Ha T, Cavalcanti DP, Miyahara H, Skinner SA, Aguirre MA, Akçören Z, Utine GE, Chiu T, Shimizu K, Hammarsjö A, Boduroglu K, Moore HW, Louie RJ, Arts P, Merrihew AN, Babic M, Jackson MR, Papadogiannakis N, Lindstrand A, Nordgren A, Barnett CP, Scott HS, Chagin AS, Nishimura G, Grigelioniene G.
    J Bone Miner Res; 2023 May 07; 38(5):692-706. PubMed ID: 36896612
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  • 16. 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 07; 2023(1):omac107. PubMed ID: 36727144
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  • 17. 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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  • 18. Ehlers-Danlos syndrome associated with glycosaminoglycan abnormalities.
    Miyake N, Kosho T, Matsumoto N.
    Adv Exp Med Biol; 2014 Aug 21; 802():145-59. PubMed ID: 24443026
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  • 19. Spondyloepimetaphyseal dysplasia with joint laxity (Beighton type); mutation analysis in eight affected South African families.
    Vorster AA, Beighton P, Ramesar RS.
    Clin Genet; 2015 May 21; 87(5):492-5. PubMed ID: 24766538
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  • 20. Glycosaminoglycan linkage region of urinary bikunin as a potentially useful biomarker for β3GalT6-deficient spondylodysplastic Ehlers-Danlos syndrome.
    Nikpour M, Noborn F, Nilsson J, Van Damme T, Kaye O, Syx D, Malfait F, Larson G.
    JIMD Rep; 2022 Sep 21; 63(5):462-467. PubMed ID: 36101818
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