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Journal Abstract Search

175 related items for PubMed ID: 9695621

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  • 2. A Japanese patient with X-linked alpha-thalassemia/mental retardation syndrome: an additional case report.
    Kurosawa K, Asoh M, Akatsuka A, Matsuo T, Ochiai Y, Maekawa K.
    Jpn J Hum Genet; 1996 Sep; 41(3):329-32. PubMed ID: 8996969
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  • 3. 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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  • 5. A case of X-linked alpha-thalassemia/mental retardation syndrome: analysis of hemoglobin by an automated glycated hemoglobin analyzer.
    Kuno T, Ideguchi H, Yoshida N, Masuyama T, Ohta M, Nishimura S, Tasaki H, Miyazaki S, Hara H, Matsumoto K.
    Acta Paediatr Jpn; 1997 Oct 18; 39(5):615-8. PubMed ID: 9363663
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  • 6. Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome).
    Gibbons RJ, Picketts DJ, Villard L, Higgs DR.
    Cell; 1995 Mar 24; 80(6):837-45. PubMed ID: 7697714
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  • 7. Alpha thalassaemia mental retardation (ATR-X): an atypical family.
    Logie LJ, Gibbons RJ, Higgs DR, Brown JK, Porteous ME.
    Arch Dis Child; 1994 May 24; 70(5):439-40. PubMed ID: 8017970
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  • 11. X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: a new kindred with severe genital anomalies and mild hematologic expression.
    McPherson EW, Clemens MM, Gibbons RJ, Higgs DR.
    Am J Med Genet; 1995 Jan 30; 55(3):302-6. PubMed ID: 7726227
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  • 14. Splicing mutation in the ATR-X gene can lead to a dysmorphic mental retardation phenotype without alpha-thalassemia.
    Villard L, Toutain A, Lossi AM, Gecz J, Houdayer C, Moraine C, Fontès M.
    Am J Hum Genet; 1996 Mar 30; 58(3):499-505. PubMed ID: 8644709
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  • 17. Syndromal mental retardation due to mutations in a regulator of gene expression.
    Gibbons RJ, Picketts DJ, Higgs DR.
    Hum Mol Genet; 1995 Mar 30; 4 Spec No():1705-9. PubMed ID: 8541868
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  • 19. Alpha-thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation - c.109C>T (p.R37X).
    Basehore MJ, Michaelson-Cohen R, Levy-Lahad E, Sismani C, Bird LM, Friez MJ, Walsh T, Abidi F, Holloway L, Skinner C, McGee S, Alexandrou A, Syrrou M, Patsalis PC, Raymond G, Wang T, Schwartz CE, King MC, Stevenson RE.
    Clin Genet; 2015 May 30; 87(5):461-6. PubMed ID: 24805811
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  • 20. First case of dizygous twins with X-linked alpha-thalassemia/mental retardation syndrome showing wide clinical variability.
    Pavone P, Taibi R, Lionetti E, Incorpora G, Fisher CA.
    Pediatr Int; 2010 Apr 30; 52(2):e72-5. PubMed ID: 20500465
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