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Journal Abstract Search

193 related items for PubMed ID: 23860037

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  • 2. Impaired O-linked N-acetylglucosaminylation in the endoplasmic reticulum by mutated epidermal growth factor (EGF) domain-specific O-linked N-acetylglucosamine transferase found in Adams-Oliver syndrome.
    Ogawa M, Sawaguchi S, Kawai T, Nadano D, Matsuda T, Yagi H, Kato K, Furukawa K, Okajima T.
    J Biol Chem; 2015 Jan 23; 290(4):2137-49. PubMed ID: 25488668
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  • 3. Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome.
    Shaheen R, Aglan M, Keppler-Noreuil K, Faqeih E, Ansari S, Horton K, Ashour A, Zaki MS, Al-Zahrani F, Cueto-González AM, Abdel-Salam G, Temtamy S, Alkuraya FS.
    Am J Hum Genet; 2013 Apr 04; 92(4):598-604. PubMed ID: 23522784
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  • 4. N-acetylglucosamine modification in the lumen of the endoplasmic reticulum.
    Ogawa M, Sawaguchi S, Furukawa K, Okajima T.
    Biochim Biophys Acta; 2015 Jun 04; 1850(6):1319-24. PubMed ID: 25791024
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  • 9. Adams-Oliver Syndrome Type 2 in Association with Compound Heterozygous DOCK6 Mutations.
    Jones KM, Silfvast-Kaiser A, Leake DR, Diaz LZ, Levy ML.
    Pediatr Dermatol; 2017 Sep 04; 34(5):e249-e253. PubMed ID: 28884918
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  • 11. Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome.
    Shaheen R, Faqeih E, Sunker A, Morsy H, Al-Sheddi T, Shamseldin HE, Adly N, Hashem M, Alkuraya FS.
    Am J Hum Genet; 2011 Aug 12; 89(2):328-33. PubMed ID: 21820096
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  • 13. Mutations in NOTCH1 cause Adams-Oliver syndrome.
    Stittrich AB, Lehman A, Bodian DL, Ashworth J, Zong Z, Li H, Lam P, Khromykh A, Iyer RK, Vockley JG, Baveja R, Silva ES, Dixon J, Leon EL, Solomon BD, Glusman G, Niederhuber JE, Roach JC, Patel MS.
    Am J Hum Genet; 2014 Sep 04; 95(3):275-84. PubMed ID: 25132448
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  • 14. Congenital diseases caused by defective O-glycosylation of Notch receptors.
    Tashima Y, Okajima T.
    Nagoya J Med Sci; 2018 Aug 04; 80(3):299-307. PubMed ID: 30214079
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  • 15. [Adams-Oliver syndrome].
    Bayou F, Boussofara L, Bennani ZL, Ghariani N, Saïdi W, Belajouza C, Denguezli M, Nouira R.
    Ann Dermatol Venereol; 2011 Oct 04; 138(10):712-4. PubMed ID: 21978514
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  • 16. Adams-Oliver syndrome review of the literature: Refining the diagnostic phenotype.
    Hassed S, Li S, Mulvihill J, Aston C, Palmer S.
    Am J Med Genet A; 2017 Mar 04; 173(3):790-800. PubMed ID: 28160419
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  • 17. A novel DLL4 mutation in Adams-Oliver syndrome with absence of the right pulmonary artery in newborn.
    Rojnueangnit K, Phawan T, Khetkham T, Techasatid W, Sirichongkolthong B.
    Am J Med Genet A; 2022 Feb 04; 188(2):658-664. PubMed ID: 34755929
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  • 18. Severe phenotype in two half-sibs with Adams Oliver syndrome.
    Sevilla-Montoya R, Ríos-Flores B, Moreno-Verduzco E, Domínguez-Castro M, Rivera-Pedroza CI, Aguinaga-Ríos DM.
    Arch Argent Pediatr; 2014 Jun 04; 112(3):e108-12. PubMed ID: 24862819
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  • 20. Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort.
    Meester JAN, Sukalo M, Schröder KC, Schanze D, Baynam G, Borck G, Bramswig NC, Duman D, Gilbert-Dussardier B, Holder-Espinasse M, Itin P, Johnson DS, Joss S, Koillinen H, McKenzie F, Morton J, Nelle H, Reardon W, Roll C, Salih MA, Savarirayan R, Scurr I, Splitt M, Thompson E, Titheradge H, Travers CP, Van Maldergem L, Whiteford M, Wieczorek D, Vandeweyer G, Trembath R, Van Laer L, Loeys BL, Zenker M, Southgate L, Wuyts W.
    Hum Mutat; 2018 Sep 04; 39(9):1246-1261. PubMed ID: 29924900
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