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Journal Abstract Search

372 related items for PubMed ID: 23727450

  • 1. Genotype-phenotype analysis of 18q12.1-q12.2 copy number variation in autism.
    Wang P, Carrion P, Qiao Y, Tyson C, Hrynchak M, Calli K, Lopez-Rangel E, Andrieux J, Delobel B, Duban-Bedu B, Thuresson AC, Annerén G, Liu X, Rajcan-Separovic E, Suzanne Lewis ME.
    Eur J Med Genet; 2013 Aug; 56(8):420-5. PubMed ID: 23727450
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  • 2. Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features.
    Battaglia A, Doccini V, Bernardini L, Novelli A, Loddo S, Capalbo A, Filippi T, Carey JC.
    Eur J Paediatr Neurol; 2013 Nov; 17(6):589-99. PubMed ID: 23711909
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  • 4. Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder.
    Chung BH, Drmic I, Marshall CR, Grafodatskaya D, Carter M, Fernandez BA, Weksberg R, Roberts W, Scherer SW.
    Eur J Med Genet; 2011 Nov; 54(5):e516-20. PubMed ID: 21689796
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  • 10. Dysfunction of SHANK2 and CHRNA7 in a patient with intellectual disability and language impairment supports genetic epistasis of the two loci.
    Chilian B, Abdollahpour H, Bierhals T, Haltrich I, Fekete G, Nagel I, Rosenberger G, Kutsche K.
    Clin Genet; 2013 Dec; 84(6):560-5. PubMed ID: 23350639
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  • 11. A variant Cri du Chat phenotype and autism spectrum disorder in a subject with de novo cryptic microdeletions involving 5p15.2 and 3p24.3-25 detected using whole genomic array CGH.
    Harvard C, Malenfant P, Koochek M, Creighton S, Mickelson EC, Holden JJ, Lewis ME, Rajcan-Separovic E.
    Clin Genet; 2005 Apr; 67(4):341-51. PubMed ID: 15733271
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  • 13. Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder.
    Mullegama SV, Rosenfeld JA, Orellana C, van Bon BW, Halbach S, Repnikova EA, Brick L, Li C, Dupuis L, Rosello M, Aradhya S, Stavropoulos DJ, Manickam K, Mitchell E, Hodge JC, Talkowski ME, Gusella JF, Keller K, Zonana J, Schwartz S, Pyatt RE, Waggoner DJ, Shaffer LG, Lin AE, de Vries BB, Mendoza-Londono R, Elsea SH.
    Eur J Hum Genet; 2014 Jan; 22(1):57-63. PubMed ID: 23632792
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  • 14. A case with a ring chromosome 13 in a cohort of 203 children with non-syndromic autism and review of the cytogenetic literature.
    Charalsawadi C, Maisrikhaw W, Praphanphoj V, Wirojanan J, Hansakunachai T, Roongpraiwan R, Sombuntham T, Ruangdaraganon N, Limprasert P.
    Cytogenet Genome Res; 2014 Jan; 144(1):1-8. PubMed ID: 25171325
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  • 15. [Analysis of de novo copy number variations in a family affected with autism spectrum disorders using high-resolution array-based comparative genomic hybridization].
    He WZ, Liu WQ, Zhong XQ, Chen XL, Li SY, Zhang HM, Li Q, Cui QL, Sun XF.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2012 Jun; 29(3):266-9. PubMed ID: 22678785
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  • 16. Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services.
    Roberts JL, Hovanes K, Dasouki M, Manzardo AM, Butler MG.
    Gene; 2014 Feb 01; 535(1):70-8. PubMed ID: 24188901
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  • 19. New insights in the interpretation of array-CGH: autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants.
    Cappuccio G, Vitiello F, Casertano A, Fontana P, Genesio R, Bruzzese D, Ginocchio VM, Mormile A, Nitsch L, Andria G, Melis D.
    Ital J Pediatr; 2016 Apr 12; 42():39. PubMed ID: 27072107
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  • 20. Association between deletion size and important phenotypes expands the genomic region of interest in Phelan-McDermid syndrome (22q13 deletion syndrome).
    Sarasua SM, Dwivedi A, Boccuto L, Rollins JD, Chen CF, Rogers RC, Phelan K, DuPont BR, Collins JS.
    J Med Genet; 2011 Nov 12; 48(11):761-6. PubMed ID: 21984749
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