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Journal Abstract Search

162 related items for PubMed ID: 22634100

  • 1. 335.4 kb microduplication in chromosome band Xp11.2p11.3 associated with developmental delay, growth retardation, autistic disorder and dysmorphic features.
    Alesi V, Bertoli M, Barrano G, Torres B, Pusceddu S, Pastorino M, Perria C, Nardone AM, Novelli A, Serra G.
    Gene; 2012 Sep 01; 505(2):384-7. PubMed ID: 22634100
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  • 2. Microduplication of Xp11.23p11.3 with effects on cognition, behavior, and craniofacial development.
    El-Hattab AW, Bournat J, Eng PA, Wu JB, Walker BA, Stankiewicz P, Cheung SW, Brown CW.
    Clin Genet; 2011 Jun 01; 79(6):531-8. PubMed ID: 20662849
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  • 5. Clustered organization of Krüppel zinc-finger genes at Xp11.23, flanking a translocation breakpoint at OATL1: a physical map with locus assignments for ZNF21, ZNF41, ZNF81, and ELK1.
    Knight JC, Grimaldi G, Thiesen HJ, Bech-Hansen NT, Fletcher CD, Coleman MP.
    Genomics; 1994 May 01; 21(1):180-7. PubMed ID: 8088786
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  • 6. Xq26.2-q26.3 microduplication in two brothers with intellectual disabilities: clinical and molecular characterization.
    Madrigal I, Fernández-Burriel M, Rodriguez-Revenga L, Cabrera JC, Martí M, Mur A, Milà M.
    J Hum Genet; 2010 Dec 01; 55(12):822-6. PubMed ID: 20861843
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  • 7. ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation.
    Lugtenberg D, Yntema HG, Banning MJ, Oudakker AR, Firth HV, Willatt L, Raynaud M, Kleefstra T, Fryns JP, Ropers HH, Chelly J, Moraine C, Gecz J, van Reeuwijk J, Nabuurs SB, de Vries BB, Hamel BC, de Brouwer AP, van Bokhoven H.
    Am J Hum Genet; 2006 Feb 01; 78(2):265-78. PubMed ID: 16385466
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  • 8. X chromosome array-CGH for the identification of novel X-linked mental retardation genes.
    Bauters M, Van Esch H, Marynen P, Froyen G.
    Eur J Med Genet; 2005 Feb 01; 48(3):263-75. PubMed ID: 16179222
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  • 10. X-chromosome duplications in males with mental retardation: pathogenic or benign variants?
    Gijsbers AC, den Hollander NS, Helderman-van de Enden AT, Schuurs-Hoeijmakers JH, Vijfhuizen L, Bijlsma EK, van Haeringen A, Hansson KB, Bakker E, Breuning MH, Ruivenkamp CA.
    Clin Genet; 2011 Jan 01; 79(1):71-8. PubMed ID: 20486941
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  • 11. Copy-number variations on the X chromosome in Japanese patients with mental retardation detected by array-based comparative genomic hybridization analysis.
    Honda S, Hayashi S, Imoto I, Toyama J, Okazawa H, Nakagawa E, Goto Y, Inazawa J.
    J Hum Genet; 2010 Sep 01; 55(9):590-9. PubMed ID: 20613765
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  • 12. A child with mild X-linked intellectual disability and a microduplication at Xp22.12 including RPS6KA3.
    Tejada MI, Martínez-Bouzas C, García-Ribes A, Larrucea S, Acquadro F, Cigudosa JC, Belet S, Froyen G, López-Aríztegui MA.
    Pediatrics; 2011 Oct 01; 128(4):e1029-33. PubMed ID: 21930553
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  • 13. Interstitial microduplication of Xp22.31: Causative of intellectual disability or benign copy number variant?
    Li F, Shen Y, Köhler U, Sharkey FH, Menon D, Coulleaux L, Malan V, Rio M, McMullan DJ, Cox H, Fagan KA, Gaunt L, Metcalfe K, Heinrich U, Hislop G, Maye U, Sutcliffe M, Wu BL, Thiel BD, Mulchandani S, Conlin LK, Spinner NB, Murphy KM, Batista DA.
    Eur J Med Genet; 2010 Oct 01; 53(2):93-9. PubMed ID: 20132918
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  • 14. Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation.
    Lugtenberg D, Zangrande-Vieira L, Kirchhoff M, Whibley AC, Oudakker AR, Kjaergaard S, Vianna-Morgante AM, Kleefstra T, Ruiter M, Jehee FS, Ullmann R, Schwartz CE, Stratton M, Raymond FL, Veltman JA, Vrijenhoek T, Pfundt R, Schuurs-Hoeijmakers JH, Hehir-Kwa JY, Froyen G, Chelly J, Ropers HH, Moraine C, Gècz J, Knijnenburg J, Kant SG, Hamel BC, Rosenberg C, van Bokhoven H, de Brouwer AP.
    Am J Med Genet A; 2010 Mar 01; 152A(3):638-45. PubMed ID: 20186789
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  • 16. Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy.
    Lugtenberg D, Kleefstra T, Oudakker AR, Nillesen WM, Yntema HG, Tzschach A, Raynaud M, Rating D, Journel H, Chelly J, Goizet C, Lacombe D, Pedespan JM, Echenne B, Tariverdian G, O'Rourke D, King MD, Green A, van Kogelenberg M, Van Esch H, Gecz J, Hamel BC, van Bokhoven H, de Brouwer AP.
    Eur J Hum Genet; 2009 Apr 01; 17(4):444-53. PubMed ID: 18985075
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  • 18. Fine mapping of Xq11.1-q21.33 and mutation screening of RPS6KA6, ZNF711, ACSL4, DLG3, and IL1RAPL2 for autism spectrum disorders (ASD).
    Kantojärvi K, Kotala I, Rehnström K, Ylisaukko-Oja T, Vanhala R, von Wendt TN, von Wendt L, Järvelä I.
    Autism Res; 2011 Jun 01; 4(3):228-33. PubMed ID: 21384559
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  • 19. X-linked mental retardation, short stature, microcephaly and hypogonadism maps to Xp22.1-p21.3 in a Belgian family.
    Van Esch H, Zanni G, Holvoet M, Borghgraef M, Chelly J, Fryns JP, Devriendt K.
    Eur J Med Genet; 2005 Jun 01; 48(2):145-52. PubMed ID: 16053905
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