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Journal Abstract Search

151 related items for PubMed ID: 22213401

  • 1. A novel X-linked disorder with developmental delay and autistic features.
    Kaya N, Colak D, Albakheet A, Al-Owain M, Abu-Dheim N, Al-Younes B, Al-Zahrani J, Mukaddes NM, Dervent A, Al-Dosari N, Al-Odaib A, Kayaalp IV, Al-Sayed M, Al-Hassnan Z, Nester MJ, Al-Dosari M, Al-Dhalaan H, Chedrawi A, Gunoz H, Karakas B, Sakati N, Alkuraya FS, Gascon GG, Ozand PT.
    Ann Neurol; 2012 Apr; 71(4):498-508. PubMed ID: 22213401
    [Abstract] [Full Text] [Related]

  • 2. Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions.
    El-Hattab AW, Fang P, Jin W, Hughes JR, Gibson JB, Patel GS, Grange DK, Manwaring LP, Patel A, Stankiewicz P, Cheung SW.
    J Med Genet; 2011 Dec; 48(12):840-50. PubMed ID: 21984752
    [Abstract] [Full Text] [Related]

  • 3. 15q duplication associated with autism in a multiplex family with a familial cryptic translocation t(14;15)(q11.2;q13.3) detected using array-CGH.
    Koochek M, Harvard C, Hildebrand MJ, Van Allen M, Wingert H, Mickelson E, Holden JJ, Rajcan-Separovic E, Lewis ME.
    Clin Genet; 2006 Feb; 69(2):124-34. PubMed ID: 16433693
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  • 5. Autism in two females with duplications involving Xp11.22-p11.23.
    Edens AC, Lyons MJ, Duron RM, Dupont BR, Holden KR.
    Dev Med Child Neurol; 2011 May; 53(5):463-6. PubMed ID: 21418194
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  • 6. Xq12-q13.3 duplication: evidence of a recurrent syndrome.
    Prontera P, Ottaviani V, Isidori I, Stangoni G, Donti E.
    Ann Neurol; 2012 Nov; 72(5):821-2; author reply 822-3. PubMed ID: 23280798
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  • 7. Array comparative genomic hybridisation analysis of boys with X linked hypopituitarism identifies a 3.9 Mb duplicated critical region at Xq27 containing SOX3.
    Solomon NM, Ross SA, Morgan T, Belsky JL, Hol FA, Karnes PS, Hopwood NJ, Myers SE, Tan AS, Warne GL, Forrest SM, Thomas PQ.
    J Med Genet; 2004 Sep; 41(9):669-78. PubMed ID: 15342697
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  • 8. 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; 128(4):e1029-33. PubMed ID: 21930553
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  • 9. Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder.
    Fernandez BA, Roberts W, Chung B, Weksberg R, Meyn S, Szatmari P, Joseph-George AM, Mackay S, Whitten K, Noble B, Vardy C, Crosbie V, Luscombe S, Tucker E, Turner L, Marshall CR, Scherer SW.
    J Med Genet; 2010 Mar; 47(3):195-203. PubMed ID: 19755429
    [Abstract] [Full Text] [Related]

  • 10. Chromosome Xq28 duplication encompassing MECP2: Clinical and molecular analysis of 16 new patients from 10 families in China.
    Yi Z, Pan H, Li L, Wu H, Wang S, Ma Y, Qi Y.
    Eur J Med Genet; 2016 Jun; 59(6-7):347-53. PubMed ID: 27180140
    [Abstract] [Full Text] [Related]

  • 11. 9 Mb familial duplication in chromosome band Xp22.2-22.13 associated with mental retardation, hypotonia and developmental delay, scoliosis, cardiovascular problems and mild dysmorphic facial features.
    Sismani C, Anastasiadou V, Kousoulidou L, Parkel S, Koumbaris G, Zilina O, Bashiardes S, Spanou E, Kurg A, Patsalis PC.
    Eur J Med Genet; 2011 Jun; 54(5):e510-5. PubMed ID: 21684358
    [Abstract] [Full Text] [Related]

  • 12. Copy number and sequence variants implicate APBA2 as an autism candidate gene.
    Babatz TD, Kumar RA, Sudi J, Dobyns WB, Christian SL.
    Autism Res; 2009 Dec; 2(6):359-64. PubMed ID: 20029827
    [Abstract] [Full Text] [Related]

  • 13. Autism-associated familial microdeletion of Xp11.22.
    Qiao Y, Liu X, Harvard C, Hildebrand MJ, Rajcan-Separovic E, Holden JJ, Lewis ME.
    Clin Genet; 2008 Aug; 74(2):134-44. PubMed ID: 18498374
    [Abstract] [Full Text] [Related]

  • 14. Identification and molecular characterization of two novel chromosomal deletions associated with autism.
    Chien WH, Gau SS, Wu YY, Huang YS, Fang JS, Chen YJ, Soong WT, Chiu YN, Chen CH.
    Clin Genet; 2010 Nov; 78(5):449-56. PubMed ID: 20236125
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  • 17. Screening of subtle copy number changes in Aicardi syndrome patients with a high resolution X chromosome array-CGH.
    Yilmaz S, Fontaine H, Brochet K, Grégoire MJ, Devignes MD, Schaff JL, Philippe C, Nemos C, McGregor JL, Jonveaux P.
    Eur J Med Genet; 2007 Nov; 50(5):386-91. PubMed ID: 17625997
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  • 19. Etiologic yield of autistic spectrum disorders: a prospective study.
    Battaglia A, Carey JC.
    Am J Med Genet C Semin Med Genet; 2006 Feb 15; 142C(1):3-7. PubMed ID: 16419094
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