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Journal Abstract Search

194 related items for PubMed ID: 31368252

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  • 5. 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; 39(9):1246-1261. PubMed ID: 29924900
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  • 6. 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; 173(3):790-800. PubMed ID: 28160419
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  • 8. 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; 112(3):e108-12. PubMed ID: 24862819
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  • 9. A novel variant in DOCK6 gene associated with Adams-Oliver syndrome type 2.
    Alzahem T, Alsalamah AK, Mura M, Alsulaiman SM.
    Ophthalmic Genet; 2020 Aug; 41(4):377-380. PubMed ID: 32498638
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  • 12. Autosomal recessive Adams-Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specific O-GlcNAc transferase.
    Cohen I, Silberstein E, Perez Y, Landau D, Elbedour K, Langer Y, Kadir R, Volodarsky M, Sivan S, Narkis G, Birk OS.
    Eur J Hum Genet; 2014 Mar; 22(3):374-8. PubMed ID: 23860037
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  • 13. Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome.
    Meester JA, Southgate L, Stittrich AB, Venselaar H, Beekmans SJ, den Hollander N, Bijlsma EK, Helderman-van den Enden A, Verheij JB, Glusman G, Roach JC, Lehman A, Patel MS, de Vries BB, Ruivenkamp C, Itin P, Prescott K, Clarke S, Trembath R, Zenker M, Sukalo M, Van Laer L, Loeys B, Wuyts W.
    Am J Hum Genet; 2015 Sep 03; 97(3):475-82. PubMed ID: 26299364
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  • 14. 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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  • 16. 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 05; 188(2):658-664. PubMed ID: 34755929
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  • 17. Adams-Oliver syndrome associated with refractory glaucoma.
    Pillai MR, Pabolu C, R R, Chaudhary S, Sr K, Puthuran GV.
    J AAPOS; 2024 Aug 05; 28(4):103950. PubMed ID: 38866321
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    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Lehman A, Wuyts W, Patel MS.
    ; 1993 Aug 05. PubMed ID: 27077170
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  • 20. Diffuse angiopathy in Adams-Oliver syndrome associated with truncating DOCK6 mutations.
    Lehman A, Stittrich AB, Glusman G, Zong Z, Li H, Eydoux P, Senger C, Lyons C, Roach JC, Patel M.
    Am J Med Genet A; 2014 Oct 05; 164A(10):2656-62. PubMed ID: 25091416
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