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Journal Abstract Search

281 related items for PubMed ID: 28371217

  • 21. Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes.
    Giorgio E, Brussino A, Biamino E, Belligni EF, Bruselles A, Ciolfi A, Caputo V, Pizzi S, Calcia A, Di Gregorio E, Cavalieri S, Mancini C, Pozzi E, Ferrero M, Riberi E, Borelli I, Amoroso A, Ferrero GB, Tartaglia M, Brusco A.
    Eur J Paediatr Neurol; 2017 May; 21(3):475-484. PubMed ID: 28027854
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  • 22. Partial duplications of the ATRX gene cause the ATR-X syndrome.
    Thienpont B, de Ravel T, Van Esch H, Van Schoubroeck D, Moerman P, Vermeesch JR, Fryns JP, Froyen G, Lacoste C, Badens C, Devriendt K.
    Eur J Hum Genet; 2007 Oct; 15(10):1094-7. PubMed ID: 17579672
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  • 27. Molecular genetic study of japanese patients with X-linked alpha-thalassemia/mental retardation syndrome (ATR-X).
    Wada T, Kubota T, Fukushima Y, Saitoh S.
    Am J Med Genet; 2000 Sep 18; 94(3):242-8. PubMed ID: 10995512
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  • 30. The first case of X-linked Alpha-thalassemia/mental retardation (ATR-X) syndrome in Korea.
    Yun KW, Chae SA, Lee JJ, Yun SW, Yoo BH, Lim IS, Choi ES, Lee MK.
    J Korean Med Sci; 2011 Jan 18; 26(1):146-9. PubMed ID: 21218045
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  • 31. [ATR-X syndrome: a new mutation in the XNP/ATRX gene near the helicase domain].
    Giuliano F, Badens C, Richelme C, Levy N, Lambert JC.
    Arch Pediatr; 2005 Sep 18; 12(9):1372-5. PubMed ID: 16125058
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  • 33. [Mutation analysis for a Chinese family featuring X-linked alpha thalassemia/mental retardation syndrome].
    Lin SB, Sun HY, Song XM, Chen LM, Du ML, Chen Z.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2013 Dec 18; 30(6):654-8. PubMed ID: 24327140
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  • 34. A novel mutation in the putative DNA helicase XH2 is responsible for male-to-female sex reversal associated with an atypical form of the ATR-X syndrome.
    Ion A, Telvi L, Chaussain JL, Galacteros F, Valayer J, Fellous M, McElreavey K.
    Am J Hum Genet; 1996 Jun 18; 58(6):1185-91. PubMed ID: 8651295
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  • 36. X-linked mental retardation-hypotonic facies syndrome: Exome sequencing identifies novel clinical characteristics associated with c.5182G>C mutation in the ATRX gene.
    Shakarami F, Jahani M, Nouri Z, Tabatabaiefar MA.
    Mol Genet Genomic Med; 2022 Oct 18; 10(10):e2034. PubMed ID: 35962714
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  • 38. [Osteosarcoma and ATR-16 syndrome: association or coincidence?].
    Regueiro García A, Saborido Fiaño R, González Calvete L, Vázquez Donsión M, Couselo Sánchez JM, Fernández Sanmartín M.
    An Pediatr (Barc); 2015 Jan 18; 82(1):e189-91. PubMed ID: 24631100
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  • 39. ATRX mutation in two adult brothers with non-specific moderate intellectual disability identified by exome sequencing.
    Moncini S, Bedeschi MF, Castronovo P, Crippa M, Calvello M, Garghentino RR, Scuvera G, Finelli P, Venturin M.
    Meta Gene; 2013 Dec 18; 1():102-8. PubMed ID: 25606380
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  • 40. A new detection method for ATRX gene mutations using a mismatch-specific endonuclease.
    Wada T, Fukushima Y, Saitoh S.
    Am J Med Genet A; 2006 Jul 15; 140(14):1519-23. PubMed ID: 16763962
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