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Journal Abstract Search

152 related items for PubMed ID: 11836360

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  • 3. Molecular cloning of Xp11 breakpoints in two unrelated mentally retarded females with X;autosome translocations.
    Nothwang HG, Schröer A, van der Maarel S, Kübart S, Schneider S, Riesselmann L, Menzel C, Hinzmann B, Vogt D, Rosenthal A, Fryns J, Tommerup N, Haaf T, Ropers HH, Wirth J.
    Cytogenet Cell Genet; 2000; 90(1-2):126-33. PubMed ID: 11060462
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  • 4. Gene for incontinentia pigmenti maps to band Xp11 with an (X;10) (p11;q22) translocation.
    Cannizzaro LA, Hecht F.
    Clin Genet; 1987 Jul; 32(1):66-9. PubMed ID: 3621656
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  • 6. Two unrelated patients with inversions of the X chromosome and non-specific mental retardation: physical and transcriptional mapping of their common breakpoint region in Xq13.1.
    Villard L, Briault S, Lossi AM, Paringaux C, Belougne J, Colleaux L, Pincus DR, Woollatt E, Lespinasse J, Munnich A, Moraine C, Fontès M, Gecz J.
    J Med Genet; 1999 Oct; 36(10):754-8. PubMed ID: 10528854
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  • 7. Characterization of ARHGEF6, a guanine nucleotide exchange factor for Rho GTPases and a candidate gene for X-linked mental retardation: mutation screening in Börjeson-Forssman-Lehmann syndrome and MRX27.
    Lower KM, Gecz J.
    Am J Med Genet; 2001 Apr 15; 100(1):43-8. PubMed ID: 11337747
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  • 8. Submicroscopic Xpter deletion in a boy with growth and mental retardation caused by a familial t(X;14).
    de Vries BB, Eussen BH, van Diggelen OP, van Der Heide A, Deelen WH, Govaerts LC, Lindhout D, Wouters CH, Van Hemel JO.
    Am J Med Genet; 1999 Nov 19; 87(2):189-94. PubMed ID: 10533035
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  • 11. Fibroblast growth factor homologous factor 2 (FHF2): gene structure, expression and mapping to the Börjeson-Forssman-Lehmann syndrome region in Xq26 delineated by a duplication breakpoint in a BFLS-like patient.
    Gecz J, Baker E, Donnelly A, Ming JE, McDonald-McGinn DM, Spinner NB, Zackai EH, Sutherland GR, Mulley JC.
    Hum Genet; 1999 Jan 19; 104(1):56-63. PubMed ID: 10071193
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  • 12. Mapping of the X-breakpoint involved in a balanced X;12 translocation in a female with mild mental retardation.
    Bienvenu T, Der-Sarkissian H, Billuart P, Tissot M, Des Portes V, Brüls T, Chabrolle JP, Chauveau P, Cherry M, Kahn A, Cohen D, Beldjord C, Chelly J, Cherif D.
    Eur J Hum Genet; 1997 Jan 19; 5(2):105-9. PubMed ID: 9195162
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  • 14. Mental retardation in association with a balanced X-autosome translocation and random inactivation of the X chromosomes.
    Sands ME.
    Clin Genet; 1980 May 19; 17(5):309-16. PubMed ID: 7438488
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  • 16. [Balanced X-autosomal translocation and mental retardation. Mapping mental retardation linked to X (excluding fragile X)].
    Teboul M, Mujica P, Chery M, Leotard B, Gilgenkrantz S.
    J Genet Hum; 1989 Sep 19; 37(3):179-95. PubMed ID: 2625622
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  • 19. Sorting nexin 3 (SNX3) is disrupted in a patient with a translocation t(6;13)(q21;q12) and microcephaly, microphthalmia, ectrodactyly, prognathism (MMEP) phenotype.
    Vervoort VS, Viljoen D, Smart R, Suthers G, DuPont BR, Abbott A, Schwartz CE.
    J Med Genet; 2002 Dec 19; 39(12):893-9. PubMed ID: 12471201
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  • 20. Characterisation of X;17(q12;p13) translocation breakpoints in a female patient with hypomelanosis of Ito and choroid plexus papilloma.
    Zajac V, Kirchhoff T, Levy ER, Horsley SW, Miller A, Steichen-Gersdorf E, Monaco AP.
    Eur J Hum Genet; 1997 Dec 19; 5(2):61-8. PubMed ID: 9195154
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