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Journal Abstract Search

164 related items for PubMed ID: 31654484

  • 1. Expanding the phenotype in Adams-Oliver syndrome correlating with the genotype.
    Dudoignon B, Huber C, Michot C, Di Rocco F, Girard M, Lyonnet S, Rio M, Rabia SH, Daire VC, Baujat G.
    Am J Med Genet A; 2020 Jan; 182(1):29-37. PubMed ID: 31654484
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  • 2. 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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  • 3. 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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  • 4. 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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  • 10. Cutaneous squamous cell carcinoma in an autosomal-recessive Adams-Oliver syndrome patient with a novel frameshift pathogenic variant in the EOGT gene.
    Lukas ML, Harald G, Sanz J, Trippel M, Sabina G, Jochen R.
    Am J Med Genet A; 2022 Nov 03; 188(11):3318-3323. PubMed ID: 36059114
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  • 12. 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 03; 164A(10):2656-62. PubMed ID: 25091416
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  • 14. 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 03; 8(4):572-581. PubMed ID: 25963545
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  • 17. 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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  • 20. 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 05; 112(3):e108-12. PubMed ID: 24862819
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