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Journal Abstract Search

210 related items for PubMed ID: 10494096

  • 1. Detection of a cryptic translocation t(13;20)(q34;p13) in an unexplained case of MCA/MR: value of FISH over high resolution banding.
    de Die-Smulders CE, Engelen JJ, Albrechts JC, Hamers GJ.
    Am J Med Genet; 1999 Oct 08; 86(4):385-8. PubMed ID: 10494096
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  • 6. Patient with rheumatoid arthritis and MCA/MR syndrome due to unbalanced der(18) transmission of a paternal translocation t(18;20)(p11.1;p11.1).
    Czakó M, Riegel M, Morava E, Schinzel A, Kosztolányi G.
    Am J Med Genet; 2002 Mar 15; 108(3):226-8. PubMed ID: 11891691
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  • 7. Submicroscopic unbalanced translocation resulting in del10p/dup13q detected by subtelomere FISH.
    Roos A, Rudnik-Schöneborn S, Eggermann K, Eggermann T, Senderek J, Schwanitz G, Zerres K, Schüler HM.
    Eur J Med Genet; 2006 Mar 15; 49(6):505-10. PubMed ID: 16905374
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  • 10. Familial translocation t(10;14) (q26.1;q32.3): report of three offspring with 10q deletion and 14q duplication.
    Huang TH, Peckham D, Batanian JR, Martin MB, Kouba M, Caldwell CW, Miles JH.
    Clin Genet; 1994 Oct 15; 46(4):299-303. PubMed ID: 7834895
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  • 11. Detection of cryptic chromosome aberrations in a patient with a balanced t(1;9)(p34.2;p24) by array-based comparative genomic hybridization.
    Hayashi S, Kurosawa K, Imoto I, Mizutani S, Inazawa J.
    Am J Med Genet A; 2005 Nov 15; 139(1):32-6. PubMed ID: 16222686
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  • 12. Subtelomeric chromosomal rearrangements detected in patients with idiopathic mental retardation and dysmorphic features.
    Caliskan MO, Karauzum SB, Mihci E, Tacoy S, Luleci G.
    Genet Couns; 2005 Nov 15; 16(2):129-38. PubMed ID: 16080292
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  • 15. Cryptic unbalanced translocation t(17;18)(p13.2;q22.3) identified by subtelomeric FISH and defined by array-based comparative genomic hybridization in a patient with mental retardation and dysmorphic features.
    Hwang KS, Pearson MA, Stankiewicz P, Lennon PA, Cooper ML, Wu J, Ou Z, Cai WW, Patel A, Cheung SW.
    Am J Med Genet A; 2005 Aug 15; 137(1):88-93. PubMed ID: 16015583
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  • 16. A FEMALE PATIENT WITH DUPLICATION OF 7p13-pter ASSOCIATED WITH DEL 20p13pter RESULTING FROM MALSEGREGATED PATERNAL 7;20 BALANCED TRANSLOCATION.
    Eid MO, Eid MM, Kamel AK, El-Ruby M, Abdel-Salam GM.
    Genet Couns; 2015 Aug 15; 26(2):153-61. PubMed ID: 26349184
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  • 17. Need for search for cryptic translocation in parents with several children affected with MCA: report of a cryptic translocation (10;14) detected by FISH.
    Delneste D, Vamos E, Pierquin G, Hayez-Delatte F, Van Regemorter N.
    Genet Couns; 1998 Aug 15; 9(2):97-102. PubMed ID: 9664205
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  • 18. [A case with partial trisomy 7 (q34→qter) derived from a paternal reciprocal translocation t(7;14)(q34;q32)].
    Xiao B, Ji X, Jiang WT, Zhang JM, Hu Q, Tao J.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2011 Dec 15; 28(6):654-7. PubMed ID: 22161098
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  • 19. A case of insertional translocation resulting in partial trisomy 16p.
    Kokalj-Vokac N, Medica I, Zagorac A, Zagradisnik B, Erjavec A, Gregoric A.
    Ann Genet; 2000 Dec 15; 43(3-4):131-5. PubMed ID: 11164194
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  • 20. Boy with seizures (West syndrome) and distal 7q duplication syndrome due to an unbalanced 7q;9p translocation.
    Tüysüz B, Demirel A, Uysal S, Beyer V, Bartsch O.
    Genet Couns; 2008 Dec 15; 19(1):29-35. PubMed ID: 18564498
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