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Journal Abstract Search

149 related items for PubMed ID: 20196399

  • 21.
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  • 23. Complex chromosomal rearrangement involving chromosomes 11, 13, 14 and 18 resulting in monosomy for 13q32----qter.
    Al-Awadi SA, Teebi AS, Sundareshan TS.
    Ann Genet; 1985; 28(3):181-4. PubMed ID: 3879154
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  • 26. Characterization of a de novo unbalanced translocation t(14q18q) using microdissection and fluorescence in situ hybridization.
    Engelen JJ, Loots WJ, Albrechts JC, Plomp AS, van der Meer SB, Vles JS, Hamers GJ, Geraedts JP.
    Am J Med Genet; 1998 Feb 03; 75(4):409-13. PubMed ID: 9482648
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  • 27. Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: array CGH study of 47 unrelated cases.
    Schluth-Bolard C, Delobel B, Sanlaville D, Boute O, Cuisset JM, Sukno S, Labalme A, Duban-Bedu B, Plessis G, Jaillard S, Dubourg C, Henry C, Lucas J, Odent S, Pasquier L, Copin H, Latour P, Cordier MP, Nadeau G, Till M, Edery P, Andrieux J.
    Eur J Med Genet; 2009 Feb 03; 52(5):291-6. PubMed ID: 19505601
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  • 28. Cytogenetic and molecular characterization of a de-novo cryptic deletion of 7p21 associated with an apparently balanced translocation and complex craniosynostosis.
    Shetty S, Boycott KM, Gillan TL, Bowser K, Parboosingh JS, McInnes B, Chernos JE, Bernier FP.
    Clin Dysmorphol; 2007 Oct 03; 16(4):253-6. PubMed ID: 17786117
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  • 30. Characterization of a de novo complex chromosome rearrangement (CCR) involving chromosomes 2 and 12, associated with mental retardation and impaired speech development.
    Schwarzbraun T, Ullmann R, Schubert M, Ledinegg M, Ofner L, Windpassinger C, Wagner K, Kroisel PM, Petek E.
    Cytogenet Genome Res; 2006 Oct 03; 115(1):84-9. PubMed ID: 16974087
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  • 33. Untreated growth hormone deficiency with extremely short stature, bone dysplasia, cleft lip--palate and severe mental retardation in a 26-year-old man with a de novo unbalanced translocation t(1;12)(q24;q24).
    Callier P, Faivre L, Marle N, Thauvin-Robinet C, Mosca AL, Masurel-Paulet A, Borgnon J, Falcon-Eicher S, Danino A, Malka G, Le Merrer M, Huet F, Mugneret F.
    Eur J Med Genet; 2007 Oct 03; 50(6):455-64. PubMed ID: 17720646
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  • 34. A de novo 11p12-p15.4 duplication in a patient with pharmacoresistant epilepsy, mental retardation, and dysmorphisms.
    Coppola A, Striano P, Gimelli S, Ciampa C, Santulli L, Caranci F, Zuffardi O, Gimelli G, Striano S, Zara F.
    Brain Dev; 2010 Mar 03; 32(3):248-52. PubMed ID: 19216040
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  • 36. Prenatal diagnosis of a fetus with two balanced de novo chromosome rearrangements.
    Cotter PD, Caggana M, Willner JP, Babu A, Desnick RJ.
    Am J Med Genet; 1996 Dec 11; 66(2):197-9. PubMed ID: 8958330
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  • 37. Characterization of a de novo balanced translocation t(9;18)(p23;q12.2) in a patient with oculoauriculovertebral spectrum.
    Rooryck C, VuPhi Y, Souakri N, Burgelin I, Saura R, Lacombe D, Arveiler B, Taine L.
    Eur J Med Genet; 2010 Dec 11; 53(2):104-7. PubMed ID: 20132917
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  • 39. Syndromal frontonasal dysostosis in a child with a complex translocation involving chromosomes 3, 7, and 11.
    Stevens CA, Qumsiyeh MB.
    Am J Med Genet; 1995 Feb 13; 55(4):494-7. PubMed ID: 7762593
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