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PUBMED FOR HANDHELDS

Journal Abstract Search


296 related items for PubMed ID: 22639464

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  • 3. Genotype/phenotype correlation in a female patient with 21q22.3 and 12p13.33 duplications.
    Mekkawy MK, Mazen IM, Kamel AK, Vater I, Zaki MS.
    Am J Med Genet A; 2016 Apr; 170A(4):1050-8. PubMed ID: 26749249
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  • 4. Subtelomeric 6.7 Mb trisomy 10p and 5.6 Mb monosomy 21q detected by FISH and array-CGH in three related patients.
    Szabó GP, Knegt AC, Ujfalusi A, Balogh E, Szabó T, Oláh É.
    Am J Med Genet A; 2012 Apr; 158A(4):869-76. PubMed ID: 22407767
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  • 9. Phenotype-genotype correlation of a patient with a "balanced" translocation 9;15 and cryptic 9q34 duplication and 15q21q25 deletion.
    Papadopoulou E, Sismani C, Christodoulou C, Ioannides M, Kalmanti M, Patsalis P.
    Am J Med Genet A; 2010 Jun; 152A(6):1515-22. PubMed ID: 20503328
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  • 11. [Genetic diagnosis and analysis of related genes for a pedigree with 2p25 and 12p13 cryptic rearrangements].
    Tu X, Zeng J, Cong X, Yan A, Lin Y, Zhang X, Qiu L, Zhou Y, Lan F.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2014 Aug; 31(4):444-8. PubMed ID: 25119907
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  • 13. Clinical characteristics in patients with interstitial deletions of chromosome region 12q21-q22 and identification of a critical region associated with keratosis pilaris.
    Al-Maawali A, Marshall CR, Scherer SW, Dupuis L, Mendoza-Londono R, Stavropoulos DJ.
    Am J Med Genet A; 2014 Mar; 164A(3):796-800. PubMed ID: 24375972
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  • 15. Complex rearrangement involving 9p deletion and duplication in a syndromic patient: genotype/phenotype correlation and review of the literature.
    Recalcati MP, Bellini M, Norsa L, Ballarati L, Caselli R, Russo S, Larizza L, Giardino D.
    Gene; 2012 Jul 01; 502(1):40-5. PubMed ID: 22537675
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  • 17. Array-CGH in patients with Kabuki-like phenotype: identification of two patients with complex rearrangements including 2q37 deletions and no other recurrent aberration.
    Cuscó I, del Campo M, Vilardell M, González E, Gener B, Galán E, Toledo L, Pérez-Jurado LA.
    BMC Med Genet; 2008 Apr 11; 9():27. PubMed ID: 18405349
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  • 18. Pure trisomy 2p syndrome in two siblings with an unbalanced translocation and minimal terminal 12q monosomy characterized by high-density microarray.
    Martínez-Juárez A, Uribe-Figueroa L, Quintana-Palma M, Razo-Aguilera G, Sevilla-Montoya R.
    Cytogenet Genome Res; 2014 Apr 11; 142(4):249-54. PubMed ID: 24751616
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  • 19. [Paternally originated Wolf-Hirschhorn syndrome detected by multiplex ligation-dependent probe amplification and microarray comparative genomic hybridization].
    Zhu CJ, Huang ZY, Wu WQ, Zhao Q, Jiang HY, Xie JS.
    Zhonghua Er Ke Za Zhi; 2012 Jun 11; 50(6):460-4. PubMed ID: 22931946
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  • 20. Analysis of invdupdel(8p) rearrangement: Clinical, cytogenetic and molecular characterization.
    García-Santiago FA, Martínez-Glez V, Santos F, García-Miñaur S, Mansilla E, Meneses AG, Rosell J, Granero ÁP, Vallespín E, Fernández L, Sierra B, Oliver-Bonet M, Palomares M, de Torres ML, Mori MÁ, Nevado J, Heath KE, Delicado A, Lapunzina P.
    Am J Med Genet A; 2015 May 11; 167A(5):1018-25. PubMed ID: 25712135
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