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Journal Abstract Search

455 related items for PubMed ID: 28027854

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  • 8. Inherited germline ATRX mutation in two brothers with ATR-X syndrome and osteosarcoma.
    Ji J, Quindipan C, Parham D, Shen L, Ruble D, Bootwalla M, Maglinte DT, Gai X, Saitta SC, Biegel JA, Mascarenhas L.
    Am J Med Genet A; 2017 May; 173(5):1390-1395. PubMed ID: 28371217
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  • 10. De novo MECP2 duplications in two females with intellectual disability and unfavorable complete skewed X-inactivation.
    Fieremans N, Bauters M, Belet S, Verbeeck J, Jansen AC, Seneca S, Roelens F, De Baere E, Marynen P, Froyen G.
    Hum Genet; 2014 Nov; 133(11):1359-67. PubMed ID: 25037250
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  • 13. MED12 missense mutation in a three-generation family. Clinical characterization of MED12-related disorders and literature review.
    Rubinato E, Rondeau S, Giuliano F, Kossorotoff M, Parodi M, Gherbi S, Steffan J, Jonard L, Marlin S.
    Eur J Med Genet; 2020 Mar; 63(3):103768. PubMed ID: 31536828
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  • 14. Targeted Next-Generation Sequencing in Patients with Suggestive X-Linked Intellectual Disability.
    Ibarluzea N, Hoz AB, Villate O, Llano I, Ocio I, Martí I, Guitart M, Gabau E, Andrade F, Gener B, Tejada MI.
    Genes (Basel); 2020 Jan 02; 11(1):. PubMed ID: 31906484
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  • 16. Identification of a Novel Frameshift variant of the ATRX gene: a Case Report and Review of the genotype-phenotype relationship.
    Wang Y, Ma Q, Chen J, Li S, Zheng F, Shi L, Li X, Li S, Tong G, Li H.
    BMC Pediatr; 2024 Oct 03; 24(1):631. PubMed ID: 39363269
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  • 17. Skewed X-inactivation in a family with DLG3-associated X-linked intellectual disability.
    Gieldon L, Mackenroth L, Betcheva-Krajcir E, Rump A, Beck-Wödl S, Schallner J, Di Donato N, Schröck E, Tzschach A.
    Am J Med Genet A; 2017 Sep 03; 173(9):2545-2550. PubMed ID: 28777483
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  • 18. Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental retardation.
    Field M, Tarpey P, Boyle J, Edkins S, Goodship J, Luo Y, Moon J, Teague J, Stratton MR, Futreal PA, Wooster R, Raymond FL, Turner G.
    Clin Genet; 2006 Dec 03; 70(6):509-15. PubMed ID: 17100996
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  • 19. ATRX syndrome in a girl with a heterozygous mutation in the ATRX Zn finger domain and a totally skewed X-inactivation pattern.
    Badens C, Martini N, Courrier S, DesPortes V, Touraine R, Levy N, Edery P.
    Am J Med Genet A; 2006 Oct 15; 140(20):2212-5. PubMed ID: 16955409
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  • 20. 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 15; 170(7):1772-9. PubMed ID: 27108886
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