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Journal Abstract Search

166 related items for PubMed ID: 1770529

  • 1. X linked alpha thalassaemia/mental retardation: spectrum of clinical features in three related males.
    Wilkie AO, Gibbons RJ, Higgs DR, Pembrey ME.
    J Med Genet; 1991 Nov; 28(11):738-41. PubMed ID: 1770529
    [Abstract] [Full Text] [Related]

  • 2. The non-deletion alpha thalassaemia/mental retardation syndrome: further support for X linkage.
    Donnai D, Clayton-Smith J, Gibbons RJ, Higgs DR.
    J Med Genet; 1991 Nov; 28(11):742-5. PubMed ID: 1770530
    [Abstract] [Full Text] [Related]

  • 3. Alpha thalassaemia/mental retardation syndrome (non-deletional type): report of a family supporting X linked inheritance.
    Cole TR, May A, Hughes HE.
    J Med Genet; 1991 Nov; 28(11):734-7. PubMed ID: 1770528
    [Abstract] [Full Text] [Related]

  • 4. A newly defined X linked mental retardation syndrome associated with alpha thalassaemia.
    Gibbons RJ, Wilkie AO, Weatherall DJ, Higgs DR.
    J Med Genet; 1991 Nov; 28(11):729-33. PubMed ID: 1770527
    [No Abstract] [Full Text] [Related]

  • 5. Alpha thalassaemia mental retardation (ATR-X): an atypical family.
    Logie LJ, Gibbons RJ, Higgs DR, Brown JK, Porteous ME.
    Arch Dis Child; 1994 May; 70(5):439-40. PubMed ID: 8017970
    [Abstract] [Full Text] [Related]

  • 6. X linked alpha thalassaemia/mental retardation (ATR-X) syndrome.
    Chudley AE, Lowry RB.
    J Med Genet; 1992 May; 29(5):357. PubMed ID: 1583667
    [No Abstract] [Full Text] [Related]

  • 7. The non-deletion type of alpha thalassaemia/mental retardation: a recognisable dysmorphic syndrome with X linked inheritance.
    Wilkie AO, Pembrey ME, Gibbons RJ, Higgs DR, Porteous ME, Burn J, Winter RM.
    J Med Genet; 1991 Oct; 28(10):724. PubMed ID: 1941971
    [No Abstract] [Full Text] [Related]

  • 8. X linked mental retardation with non-deletional alpha thalassaemia (ATR-X): further delineation of the phenotype.
    Ogle R, DeSouza M, Cunningham C, Kerr B, Sillence D.
    J Med Genet; 1994 Mar; 31(3):245-7. PubMed ID: 8014976
    [Abstract] [Full Text] [Related]

  • 9. 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
    [Abstract] [Full Text] [Related]

  • 10. 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 18; 58(3):499-505. PubMed ID: 8644709
    [Abstract] [Full Text] [Related]

  • 11. X-linked mental retardation syndrome with characteristic "coarse" facial appearance, brachydactyly, and short stature maps to proximal Xq.
    Carpenter NJ, Qu Y, Curtis M, Patil SR.
    Am J Med Genet; 1999 Jul 30; 85(3):230-5. PubMed ID: 10398234
    [Abstract] [Full Text] [Related]

  • 12. Clinical and hematologic aspects of the X-linked alpha-thalassemia/mental retardation syndrome (ATR-X).
    Gibbons RJ, Brueton L, Buckle VJ, Burn J, Clayton-Smith J, Davison BC, Gardner RJ, Homfray T, Kearney L, Kingston HM.
    Am J Med Genet; 1995 Jan 30; 55(3):288-99. PubMed ID: 7726225
    [Abstract] [Full Text] [Related]

  • 13. 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
    [Abstract] [Full Text] [Related]

  • 14. A new X linked syndrome with mental retardation and craniofacial dysmorphism?
    Hyde-Forster I, McCarthy G, Berry AC.
    J Med Genet; 1992 Oct 30; 29(10):736-8. PubMed ID: 1433236
    [Abstract] [Full Text] [Related]

  • 15. X-linked mental retardation and characteristic physical features in two brothers with duplication Xp22-Xpter.
    Cianchetti C, Muntoni F, Falchi AM, Nucaro A, Sannio-Fancello G, Cao A, Marrosu MG.
    Am J Med Genet; 1992 Oct 30; 43(1-2):475-8. PubMed ID: 1605229
    [Abstract] [Full Text] [Related]

  • 16. 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 30; 173(5):1390-1395. PubMed ID: 28371217
    [Abstract] [Full Text] [Related]

  • 17. Arch fingerprints, hypotonia, and areflexia associated with X linked mental retardation.
    Stevenson RE, Häne B, Arena JF, May M, Lawrence L, Lubs HA, Schwartz CE.
    J Med Genet; 1997 Jun 30; 34(6):465-9. PubMed ID: 9192265
    [Abstract] [Full Text] [Related]

  • 18. Fried syndrome is a distinct X linked mental retardation syndrome mapping to Xp22.
    Strain L, Wright AF, Bonthron DT.
    J Med Genet; 1997 Jul 30; 34(7):535-40. PubMed ID: 9222959
    [Abstract] [Full Text] [Related]

  • 19. [Alpha-thalassemia/mental retardation syndrome (ATR-X) in two brothers - clinical characteristics, diagnostics and genetic counselling issues].
    Szczałuba K, Obersztyn E, Nowakowska B, Bernaciak J, Fisher C, Gibbons R, Mazurczak T, Bocian E.
    Med Wieku Rozwoj; 2011 Jul 30; 15(4):437-44. PubMed ID: 22516698
    [Abstract] [Full Text] [Related]

  • 20. X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysis.
    Gibbons RJ, Suthers GK, Wilkie AO, Buckle VJ, Higgs DR.
    Am J Hum Genet; 1992 Nov 30; 51(5):1136-49. PubMed ID: 1415255
    [Abstract] [Full Text] [Related]

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