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Journal Abstract Search

369 related items for PubMed ID: 28119487

  • 1. STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability.
    Lehalle D, Mosca-Boidron AL, Begtrup A, Boute-Benejean O, Charles P, Cho MT, Clarkson A, Devinsky O, Duffourd Y, Duplomb-Jego L, Gérard B, Jacquette A, Kuentz P, Masurel-Paulet A, McDougall C, Moutton S, Olivié H, Park SM, Rauch A, Revencu N, Rivière JB, Rubin K, Simonic I, Shears DJ, Smol T, Taylor Tavares AL, Terhal P, Thevenon J, Van Gassen K, Vincent-Delorme C, Willemsen MH, Wilson GN, Zackai E, Zweier C, Callier P, Thauvin-Robinet C, Faivre L.
    J Med Genet; 2017 Jul; 54(7):479-488. PubMed ID: 28119487
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  • 3. Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.
    Yuan B, Neira J, Pehlivan D, Santiago-Sim T, Song X, Rosenfeld J, Posey JE, Patel V, Jin W, Adam MP, Baple EL, Dean J, Fong CT, Hickey SE, Hudgins L, Leon E, Madan-Khetarpal S, Rawlins L, Rustad CF, Stray-Pedersen A, Tveten K, Wenger O, Diaz J, Jenkins L, Martin L, McGuire M, Pietryga M, Ramsdell L, Slattery L, DDD Study, Abid F, Bertuch AA, Grange D, Immken L, Schaaf CP, Van Esch H, Bi W, Cheung SW, Breman AM, Smith JL, Shaw C, Crosby AH, Eng C, Yang Y, Lupski JR, Xiao R, Liu P.
    Genet Med; 2019 Mar; 21(3):663-675. PubMed ID: 30158690
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  • 4. A Novel De Novo STAG1 Variant in Monozygotic Twins with Neurodevelopmental Disorder: New Insights in Clinical Heterogeneity.
    Cipriano L, Russo R, Andolfo I, Manno M, Piscopo R, Iolascon A, Piscopo C.
    Genes (Basel); 2024 Sep 09; 15(9):. PubMed ID: 39336775
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  • 5. Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples.
    Giorgio E, Ciolfi A, Biamino E, Caputo V, Di Gregorio E, Belligni EF, Calcia A, Gaidolfi E, Bruselles A, Mancini C, Cavalieri S, Molinatto C, Cirillo Silengo M, Ferrero GB, Tartaglia M, Brusco A.
    Am J Med Genet A; 2016 Jul 09; 170(7):1772-9. PubMed ID: 27108886
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  • 7. Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism.
    Kim HG, Rosenfeld JA, Scott DA, Bénédicte G, Labonne JD, Brown J, McGuire M, Mahida S, Naidu S, Gutierrez J, Lesca G, des Portes V, Bruel AL, Sorlin A, Xia F, Capri Y, Muller E, McKnight D, Torti E, Rüschendorf F, Hummel O, Islam Z, Kolatkar PR, Layman LC, Ryu D, Kong IK, Madan-Khetarpal S, Kim CH.
    Mol Autism; 2019 Jul 09; 10():35. PubMed ID: 31649809
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  • 10. Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.
    Tham E, Lindstrand A, Santani A, Malmgren H, Nesbitt A, Dubbs HA, Zackai EH, Parker MJ, Millan F, Rosenbaum K, Wilson GN, Nordgren A.
    Am J Hum Genet; 2015 Mar 05; 96(3):507-13. PubMed ID: 25728777
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  • 12. Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy.
    Moortgat S, Désir J, Benoit V, Boulanger S, Pendeville H, Nassogne MC, Lederer D, Maystadt I.
    Am J Med Genet A; 2016 Nov 05; 170(11):2927-2933. PubMed ID: 27333055
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  • 13. Distinct and overlapping roles of STAG1 and STAG2 in cohesin localization and gene expression in embryonic stem cells.
    Arruda NL, Carico ZM, Justice M, Liu YF, Zhou J, Stefan HC, Dowen JM.
    Epigenetics Chromatin; 2020 Aug 10; 13(1):32. PubMed ID: 32778134
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  • 14. A novel STAG1 variant associated with congenital clubfoot and microphthalmia: A case report.
    Bregvadze K, Sukhiashvili A, Lartsuliani M, Melikidze E, Tkemaladze T.
    SAGE Open Med Case Rep; 2024 Aug 10; 12():2050313X241277123. PubMed ID: 39224759
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  • 20. Mutations in STAG2 cause an X-linked cohesinopathy associated with undergrowth, developmental delay, and dysmorphia: Expanding the phenotype in males.
    Mullegama SV, Klein SD, Signer RH, UCLA Clinical Genomics CenterDepartment of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California., Vilain E, Martinez-Agosto JA.
    Mol Genet Genomic Med; 2019 Feb 10; 7(2):e00501. PubMed ID: 30447054
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