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Journal Abstract Search

226 related items for PubMed ID: 11426460

  • 1. Manifestations in four males with and an obligate carrier of the Lenz microphthalmia syndrome.
    Forrester S, Kovach MJ, Reynolds NM, Urban R, Kimonis V.
    Am J Med Genet; 2001 Jan 01; 98(1):92-100. PubMed ID: 11426460
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  • 2. Genetic heterogeneity of syndromic X-linked recessive microphthalmia-anophthalmia: is Lenz microphthalmia a single disorder?
    Ng D, Hadley DW, Tifft CJ, Biesecker LG.
    Am J Med Genet; 2002 Jul 15; 110(4):308-14. PubMed ID: 12116202
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  • 3. Lenz microphthalmia syndrome: three additional cases with rare associated anomalies.
    Temtamy SA, Ismail SI, Meguid NA.
    Genet Couns; 2000 Jul 15; 11(2):147-52. PubMed ID: 10893665
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  • 4. Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome.
    Horn D, Chyrek M, Kleier S, Lüttgen S, Bolz H, Hinkel GK, Korenke GC, Riess A, Schell-Apacik C, Tinschert S, Wieczorek D, Gillessen-Kaesbach G, Kutsche K.
    Eur J Hum Genet; 2005 May 15; 13(5):563-9. PubMed ID: 15770227
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  • 7. Apparent Lenz microphthalmia syndrome: a patient with unusual manifestations.
    Okumus N, Zenciroglu A, Demirel N, Bas AY, Ceylaner S.
    Genet Couns; 2008 May 15; 19(2):177-82. PubMed ID: 18618992
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  • 8. A form of X-linked mental retardation with marfanoid habitus.
    Lujan JE, Carlin ME, Lubs HA.
    Am J Med Genet; 1984 Jan 15; 17(1):311-22. PubMed ID: 6711603
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  • 10. Börjeson-Forssman-Lehmann syndrome: clinical manifestations and gene localization to Xq26-27.
    Turner G, Gedeon A, Mulley J, Sutherland G, Rae J, Power K, Arthur I.
    Am J Med Genet; 1989 Dec 15; 34(4):463-9. PubMed ID: 2624253
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  • 11. X-linked recessive inheritance of radial ray deficiencies in a family with four affected males.
    Galjaard RJ, Kostakoglu N, Hoogeboom JJ, Breedveld GJ, van der Linde HC, Hovius SE, Oostra BA, Sandkuijl LA, Akarsu AN, Heutink P.
    Eur J Hum Genet; 2001 Sep 15; 9(9):653-8. PubMed ID: 11571552
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  • 12. New X-linked mental retardation (XLMR) syndrome with distinct facial appearance and growth retardation.
    Brooks SS, Wisniewski K, Brown WT.
    Am J Med Genet; 1994 Jul 15; 51(4):586-90. PubMed ID: 7943044
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  • 13. Microcephaly and digital anomalies: a newly recognized syndrome of recessively inherited mental retardation.
    Kelly TE, Kirson L, Wyatt J.
    Am J Med Genet; 1993 Feb 01; 45(3):353-5. PubMed ID: 8434622
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  • 17. Regional localization of a gene for nonspecific XLMR to Xp11.3-p11. 23 (MRX51) and tentative localization of an MRX gene to Xq23-q26.1.
    Claes S, Volcke P, Devriendt K, Holvoet M, Raeymaekers P, Cassiman JJ, Fryns JP.
    Am J Med Genet; 1999 Jul 30; 85(3):283-7. PubMed ID: 10398244
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  • 18. Mutchinick syndrome in a Japanese girl.
    Tonoki H, Hattori T, Kamoshida H, Ohta Y, Niikawa N.
    Am J Med Genet; 1999 Mar 12; 83(2):96-9. PubMed ID: 10190479
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  • 19. Homozygosity mapping in a family with microcephaly, mental retardation, and short stature to a Cohen syndrome region on 8q21.3-8q22.1: redefining a clinical entity.
    Horn D, Krebsová A, Kunze J, Reis A.
    Am J Med Genet; 2000 Jun 05; 92(4):285-92. PubMed ID: 10842298
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  • 20. X-linked mental retardation, microcephaly, and growth delay associated with hereditary bullous dystrophy macular type: report of a second family.
    Lungarotti MS, Martello C, Barboni G, Mezzetti D, Mariotti G, Calabro A.
    Am J Med Genet; 1994 Jul 15; 51(4):598-601. PubMed ID: 7943046
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