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Journal Abstract Search

476 related items for PubMed ID: 22283495

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  • 3. The usefulness of array comparative genomic hybridization in clinical diagnostics of intellectual disability in children.
    Bartnik M, Wiśniowiecka-Kowalnik B, Nowakowska B, Smyk M, Kędzior M, Sobecka K, Kutkowska-Kaźmierczak A, Klapecki J, Szczałuba K, Castañeda J, Własienko P, Bezniakow N, Obersztyn E, Bocian E.
    Dev Period Med; 2014; 18(3):307-17. PubMed ID: 25182394
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  • 5. The clinical benefit of array-based comparative genomic hybridization for detection of copy number variants in Czech children with intellectual disability and developmental delay.
    Wayhelova M, Smetana J, Vallova V, Hladilkova E, Filkova H, Hanakova M, Vilemova M, Nikolova P, Gromesova B, Gaillyova R, Kuglik P.
    BMC Med Genomics; 2019 Jul 23; 12(1):111. PubMed ID: 31337399
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  • 7. Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes.
    Di Gregorio E, Riberi E, Belligni EF, Biamino E, Spielmann M, Ala U, Calcia A, Bagnasco I, Carli D, Gai G, Giordano M, Guala A, Keller R, Mandrile G, Arduino C, Maffè A, Naretto VG, Sirchia F, Sorasio L, Ungari S, Zonta A, Zacchetti G, Talarico F, Pappi P, Cavalieri S, Giorgio E, Mancini C, Ferrero M, Brussino A, Savin E, Gandione M, Pelle A, Giachino DF, De Marchi M, Restagno G, Provero P, Cirillo Silengo M, Grosso E, Buxbaum JD, Pasini B, De Rubeis S, Brusco A, Ferrero GB.
    Clin Genet; 2017 Oct 23; 92(4):415-422. PubMed ID: 28295210
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  • 11. SNP arrays: comparing diagnostic yields for four platforms in children with developmental delay.
    D'Amours G, Langlois M, Mathonnet G, Fetni R, Nizard S, Srour M, Tihy F, Phillips MS, Michaud JL, Lemyre E.
    BMC Med Genomics; 2014 Dec 24; 7():70. PubMed ID: 25539807
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  • 12. Array-CGH in children with mild intellectual disability: a population-based study.
    Coutton C, Dieterich K, Satre V, Vieville G, Amblard F, David M, Cans C, Jouk PS, Devillard F.
    Eur J Pediatr; 2015 Jan 24; 174(1):75-83. PubMed ID: 24985125
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  • 16. Predictive diagnostic value for the clinical features accompanying intellectual disability in children with pathogenic copy number variations: a multivariate analysis.
    Caramaschi E, Stanghellini I, Magini P, Giuffrida MG, Scullin S, Giuva T, Bergonzini P, Guerra A, Paolucci P, Percesepe A.
    Ital J Pediatr; 2014 Apr 28; 40():39. PubMed ID: 24775911
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  • 18. Sporadic male patients with intellectual disability: contribution of X-chromosome copy number variants.
    Isrie M, Froyen G, Devriendt K, de Ravel T, Fryns JP, Vermeesch JR, Van Esch H.
    Eur J Med Genet; 2012 Nov 28; 55(11):577-85. PubMed ID: 22659343
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  • 20. [Analysis of copy number variations in 66 children with unexplained mental retardation/developmental delay using chromosomal microarrays].
    Li Y, Qiu W, Ye J, Han L, Zhang H, Gu X.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2014 Dec 28; 31(6):703-7. PubMed ID: 25449071
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