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Journal Abstract Search

352 related items for PubMed ID: 16380922

  • 1. Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation.
    Schüle B, Oviedo A, Johnston K, Pai S, Francke U.
    Am J Hum Genet; 2005 Dec; 77(6):1117-28. PubMed ID: 16380922
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  • 2. Roberts syndrome in an Indian patient with humeroradial synostosis, congenital elbow contractures and a novel homozygous splice variant in ESCO2.
    Schneeberger PE, Nayak SS, Fuchs S, Kutsche K, Girisha KM.
    Am J Med Genet A; 2020 Nov; 182(11):2793-2796. PubMed ID: 32783269
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  • 3. Expanding the mutation and clinical spectrum of Roberts syndrome.
    Afifi HH, Abdel-Salam GM, Eid MM, Tosson AM, Shousha WG, Abdel Azeem AA, Farag MK, Mehrez MI, Gaber KR.
    Congenit Anom (Kyoto); 2016 Jul; 56(4):154-62. PubMed ID: 26710928
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  • 5. Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome.
    Vega H, Trainer AH, Gordillo M, Crosier M, Kayserili H, Skovby F, Uzielli ML, Schnur RE, Manouvrier S, Blair E, Hurst JA, Forzano F, Meins M, Simola KO, Raas-Rothschild A, Hennekam RC, Jabs EW.
    J Med Genet; 2010 Jan; 47(1):30-7. PubMed ID: 19574259
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  • 6. The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity.
    Gordillo M, Vega H, Trainer AH, Hou F, Sakai N, Luque R, Kayserili H, Basaran S, Skovby F, Hennekam RC, Uzielli ML, Schnur RE, Manouvrier S, Chang S, Blair E, Hurst JA, Forzano F, Meins M, Simola KO, Raas-Rothschild A, Schultz RA, McDaniel LD, Ozono K, Inui K, Zou H, Jabs EW.
    Hum Mol Genet; 2008 Jul 15; 17(14):2172-80. PubMed ID: 18411254
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  • 7. Establishment and characterization of Roberts syndrome and SC phocomelia model medaka (Oryzias latipes).
    Morita A, Nakahira K, Hasegawa T, Uchida K, Taniguchi Y, Takeda S, Toyoda A, Sakaki Y, Shimada A, Takeda H, Yanagihara I.
    Dev Growth Differ; 2012 Jun 15; 54(5):588-604. PubMed ID: 22694322
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  • 8. ROBERTS SYNDROME: CLINICAL AND CYTOGENETIC STUDIES IN 8 EGYPTIAN PATIENTS AND MOLECULAR STUDIES IN 4 PATIENTS WITH GENOTYPE/PHENOTYPE CORRELATION.
    Ismail S, Essawi M, Sedky N, Hassan H, Fayez A, Helmy N, Shehab M, Farouk D, Elruby M, Otaify G, Eldarsh A, Hosny L, Gaber K, Aboul-Ezz EHA, Ramzy MI, Mehrez MI, Hassib NF, Elhadidi SMA, Aglan MS, Temtamy SA.
    Genet Couns; 2016 Jun 15; 27(3):305-323. PubMed ID: 30204960
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  • 11. A homozygous frameshift mutation in the ESCO2 gene: evidence of intertissue and interindividual variation in Nmd efficiency.
    Resta N, Susca FC, Di Giacomo MC, Stella A, Bukvic N, Bagnulo R, Simone C, Guanti G.
    J Cell Physiol; 2006 Oct 15; 209(1):67-73. PubMed ID: 16775838
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  • 12. A Roberts Syndrome Individual With Differential Genotoxin Sensitivity and a DNA Damage Response Defect.
    McKay MJ, Craig J, Kalitsis P, Kozlov S, Verschoor S, Chen P, Lobachevsky P, Vasireddy R, Yan Y, Ryan J, McGillivray G, Savarirayan R, Lavin MF, Ramsay RG, Xu H.
    Int J Radiat Oncol Biol Phys; 2019 Apr 01; 103(5):1194-1202. PubMed ID: 30508616
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  • 13. Juberg-Hayward syndrome and Roberts syndrome are allelic, caused by mutations in ESCO2.
    Kantaputra PN, Dejkhamron P, Tongsima S, Ngamphiw C, Intachai W, Ngiwsara L, Sawangareetrakul P, Svasti J, Olsen B, Cairns JRK, Bumroongkit K.
    Arch Oral Biol; 2020 Nov 01; 119():104918. PubMed ID: 32977150
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  • 16. Prenatal diagnosis of Roberts syndrome and detection of an ESCO2 frameshift mutation in a Pakistani family.
    Schulz S, Gerloff C, Ledig S, Langer D, Volleth M, Shirneshan K, Wieacker P.
    Prenat Diagn; 2008 Jan 01; 28(1):42-5. PubMed ID: 18186147
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