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Journal Abstract Search

282 related items for PubMed ID: 11755100

  • 21. Trisomy 1q43 syndrome: a consistent phenotype with macrocephaly, characteristic face, developmental delay and cardiac anomalies.
    Morava E, Jackson KE, Tsien F, Marble MR.
    Genet Couns; 2004; 15(4):449-53. PubMed ID: 15658621
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  • 22. Partial trisomy 1(q42-->qter): a new case with a mild phenotype.
    Concolino D, Cinti R, Ferraro L, Moricca MT, Strisciuglio P.
    J Med Genet; 1998 Jan; 35(1):75-7. PubMed ID: 9475102
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  • 24. Trisomy 4p and partial monosomy 18q due to paternal translocation t(4;18) (p11; q21.3).
    Thanemozhi G, Santhiya ST, Chandra N, Palka G, Jayam S, Gopinath PM.
    Indian J Pediatr; 2000 Aug; 67(8):601-4. PubMed ID: 10985005
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  • 25. Gardner-Silengo-Wachtel or genito-palato-cadiac syndrome with associated autosomal aneuploidy.
    Golabi M, James AW, Desai N, Culver K, Cotter PD.
    Am J Med Genet A; 2009 Feb 15; 149A(4):693-7. PubMed ID: 19283856
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  • 29. Detection of a de novo duplication of 1q32-qter by fluorescence in situ hybridisation in a boy with multiple malformations: further delineation of the trisomy 1q syndrome.
    Duba HC, Erdel M, Löffler J, Bereuther L, Fischer H, Utermann B, Utermann G.
    J Med Genet; 1997 Apr 15; 34(4):309-13. PubMed ID: 9138155
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  • 33. Clinical and cytogenetic features of a patient with partial trisomy 8q and partial monosomy 13q delineated by array comparative genomic hybridization.
    Sohn YB, Yun JN, Park SJ, Park MS, Kim SH, Lee JH.
    Ann Clin Lab Sci; 2013 Apr 15; 43(3):332-6. PubMed ID: 23884231
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  • 38. Partial trisomy 13q identified by sequential fluorescence in situ hybridization.
    Rao VV, Carpenter NJ, Gucsavas M, Coldwell J, Say B.
    Am J Med Genet; 1995 Jul 31; 58(1):50-3. PubMed ID: 7573156
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  • 39. Partial trisomy 2p24-->pter and monosomy 18q22.1- qter resulting from parental translocation.
    Atik T, Durmaz B, Yorganci OU, Cogulu O, Kioutsouk M, Ozkinay F.
    Genet Couns; 2013 Jul 31; 24(2):179-84. PubMed ID: 24032288
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