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Journal Abstract Search

178 related items for PubMed ID: 24668619

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  • 5. Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies.
    Southgate L, Machado RD, Snape KM, Primeau M, Dafou D, Ruddy DM, Branney PA, Fisher M, Lee GJ, Simpson MA, He Y, Bradshaw TY, Blaumeiser B, Winship WS, Reardon W, Maher ER, FitzPatrick DR, Wuyts W, Zenker M, Lamarche-Vane N, Trembath RC.
    Am J Hum Genet; 2011 May 13; 88(5):574-85. PubMed ID: 21565291
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  • 10. 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 13; 173(3):790-800. PubMed ID: 28160419
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  • 12. Novel compound heterozygous mutations of the DOCK6 gene in a familial case of Adams-Oliver syndrome 2.
    Wang Z, Wang X, Guiyu Lou, Litao Qin, Shasha Bian, Tang X, Hongjie Zhu, Shengran Wang, Bingtao Hao, Shixiu Liao.
    Gene; 2019 Jun 05; 700():65-69. PubMed ID: 30898718
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  • 13. Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies.
    Southgate L, Sukalo M, Karountzos ASV, Taylor EJ, Collinson CS, Ruddy D, Snape KM, Dallapiccola B, Tolmie JL, Joss S, Brancati F, Digilio MC, Graul-Neumann LM, Salviati L, Coerdt W, Jacquemin E, Wuyts W, Zenker M, Machado RD, Trembath RC.
    Circ Cardiovasc Genet; 2015 Aug 05; 8(4):572-581. PubMed ID: 25963545
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  • 14. 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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  • 15. 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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  • 16. Two AOS genes attributed to familial exudative vitreoretinopathy with microcephaly: Two case reports.
    Tao Z, Bu S, Lu F.
    Medicine (Baltimore); 2021 Mar 05; 100(9):e24633. PubMed ID: 33655927
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  • 17. Adams-Oliver syndrome caused by mutations of the EOGT gene.
    Schröder KC, Duman D, Tekin M, Schanze D, Sukalo M, Meester J, Wuyts W, Zenker M.
    Am J Med Genet A; 2019 Nov 05; 179(11):2246-2251. PubMed ID: 31368252
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  • 18. Epileptic Encephalopathy in Adams-Oliver Syndrome Associated to a New DOCK6 Mutation: A Peculiar Behavioral Phenotype.
    Pisciotta L, Capra V, Accogli A, Giacomini T, Prato G, Tavares P, Pinto-Basto J, Morana G, Mancardi MM.
    Neuropediatrics; 2018 Jun 05; 49(3):217-221. PubMed ID: 29631299
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  • 19. Novel missense mutation in DLL4 in a Japanese sporadic case of Adams-Oliver syndrome.
    Nagasaka M, Taniguchi-Ikeda M, Inagaki H, Ouchi Y, Kurokawa D, Yamana K, Harada R, Nozu K, Sakai Y, Mishra SK, Yamaguchi Y, Morioka I, Toda T, Kurahashi H, Iijima K.
    J Hum Genet; 2017 Sep 05; 62(9):851-855. PubMed ID: 28446798
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  • 20. Genetic cause of rare disease may be involved in more common birth defects.
    Am J Med Genet A; 2011 Aug 05; 155A(8):ix-x. PubMed ID: 21774070
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