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Journal Abstract Search


148 related items for PubMed ID: 22258158

  • 21. Array-CGH revealed one of the smallest 16q21q22.1 microdeletions in a female patient with psychomotor retardation.
    Tsoutsou E, Tzetis M, Giannikou K, Syrmou A, Oikonomakis V, Kosma K, Kanioura A, Kanavakis E, Fryssira H.
    Eur J Paediatr Neurol; 2013 May; 17(3):316-20. PubMed ID: 23352671
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  • 22. New cases and refinement of the critical region in the 1q41q42 microdeletion syndrome.
    Rosenfeld JA, Lacassie Y, El-Khechen D, Escobar LF, Reggin J, Heuer C, Chen E, Jenkins LS, Collins AT, Zinner S, Babcock M, Morrow B, Schultz RA, Torchia BS, Ballif BC, Tsuchiya KD, Shaffer LG.
    Eur J Med Genet; 2011 May; 54(1):42-9. PubMed ID: 20951845
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  • 24. A further patient with van Maldergem syndrome.
    Neuhann TM, Müller D, Hackmann K, Holzinger S, Schrock E, Di Donato N.
    Eur J Med Genet; 2012 Jun; 55(6-7):423-8. PubMed ID: 22469822
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  • 25. Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1.
    Rajcan-Separovic E, Harvard C, Liu X, McGillivray B, Hall JG, Qiao Y, Hurlburt J, Hildebrand J, Mickelson EC, Holden JJ, Lewis ME.
    J Med Genet; 2007 Apr; 44(4):269-76. PubMed ID: 16963482
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  • 26. A single gene deletion on 4q28.3: PCDH18--a new candidate gene for intellectual disability?
    Kasnauskiene J, Ciuladaite Z, Preiksaitiene E, Matulevičienė A, Alexandrou A, Koumbaris G, Sismani C, Pepalytė I, Patsalis PC, Kučinskas V.
    Eur J Med Genet; 2012 Apr; 55(4):274-7. PubMed ID: 22450339
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  • 29. Chromosome 10p11.2-p12.2 duplication: report of a patient and review of the literature.
    Mégarbané A, Gosset P, Souraty N, Lapierre JM, Korban R, Zahed L, Samaras L, Vekemans M, Prieur M.
    Am J Med Genet; 2001 Dec 01; 104(3):204-8. PubMed ID: 11754045
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  • 31. Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene.
    Klopocki E, Neumann LM, Tönnies H, Ropers HH, Mundlos S, Ullmann R.
    Eur J Hum Genet; 2006 Dec 01; 14(12):1274-9. PubMed ID: 16896345
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  • 32. 19q13.32 microdeletion syndrome: three new cases.
    Castillo A, Kramer N, Schwartz CE, Miles JH, DuPont BR, Rosenfeld JA, Graham JM.
    Eur J Med Genet; 2014 Dec 01; 57(11-12):654-8. PubMed ID: 25230004
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  • 35. Kabuki syndrome and trisomy 10p.
    Utine GE, Alanay Y, Atkaş D, Boduroğlu K, Alikaşifoğlu M, Tunçbilek E.
    Genet Couns; 2008 Dec 01; 19(3):291-300. PubMed ID: 18990985
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  • 36. Additional patient with del(12)(q21.2q22): further evidence for a candidate region for cardio-facio-cutaneous syndrome?
    Rauen KA, Albertson DG, Pinkel D, Cotter PD.
    Am J Med Genet; 2002 Jun 01; 110(1):51-6. PubMed ID: 12116271
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  • 37. Interstitial deletion of 18q: comparative genomic hybridization array analysis of 46, XX,del(18)(q21.2.q21.33).
    Kato Z, Morimoto W, Kimura T, Matsushima A, Kondo N.
    Birth Defects Res A Clin Mol Teratol; 2010 Feb 01; 88(2):132-5. PubMed ID: 19813260
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  • 38. Contribution of SNP arrays in diagnosis of deletion 2p11.2-p12.
    Rocca MS, Fabretto A, Faletra F, Carlet O, Skabar A, Gasparini P, Pecile V.
    Gene; 2012 Jan 15; 492(1):315-8. PubMed ID: 22062632
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  • 39. Partial deletion of ANKRD11 results in the KBG phenotype distinct from the 16q24.3 microdeletion syndrome.
    Khalifa M, Stein J, Grau L, Nelson V, Meck J, Aradhya S, Duby J.
    Am J Med Genet A; 2013 Apr 15; 161A(4):835-40. PubMed ID: 23494856
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  • 40. 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 15; 67(4):341-51. PubMed ID: 15733271
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