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Journal Abstract Search

710 related items for PubMed ID: 12457405

  • 1. Molecular characterization of partial trisomy 16q24.1-qter: clinical report and review of the literature.
    Brisset S, Joly G, Ozilou C, Lapierre JM, Gosset P, LeLorc'h M, Raoul O, Turleau C, Vekemans M, Romana SP.
    Am J Med Genet; 2002 Dec 15; 113(4):339-45. PubMed ID: 12457405
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  • 2. Distal monosomy 16p13.3/distal trisomy 2p24.2-pter: molecular-cytogenetic characterisation and phenotype.
    Mach M, Windpassinger C, Wagner K, Kroisel PM, Petek E.
    Genet Couns; 2007 Dec 15; 18(1):9-16. PubMed ID: 17515297
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  • 3. [Phenotype positioning on chromosomes in a patient with the syndrome of partial trisomy 7p21.2-->pter].
    Liang DS, Wu LQ, Cai F, Xia K, Long ZG, Pan Q, Dai HP, Xia JH.
    Yi Chuan Xue Bao; 2005 Feb 15; 32(2):124-9. PubMed ID: 15759858
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  • 6. Spectral karyotyping and fluorescence in situ hybridization analysis of de novo partial trisomy 7p (7p21.2-->pter) and partial monosomy 12q (12q24.33-->qter).
    Chen CP, Lin SP, Lin CC, Li YC, Hsieh LJ, Huang JK, Lee CC, Wang W.
    Genet Couns; 2006 Feb 15; 17(1):57-63. PubMed ID: 16719278
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  • 7. Maternal balanced translocation (4;21) leading to an offspring with partial duplication of 4q and 21q without phenotypic manifestations of Down syndrome.
    El-Ruby M, Hemly NA, Zaki MS.
    Genet Couns; 2007 Feb 15; 18(2):217-26. PubMed ID: 17710874
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  • 8. Partial trisomy of the distal part of 10q: a report of two Egyptian cases.
    Aglan MS, Kamel AK, Helmy NA.
    Genet Couns; 2008 Feb 15; 19(2):199-209. PubMed ID: 18618995
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  • 9. Partial trisomy 8p (8p11.2-->pTER) and deletion of 13q (13q32-->qTER): case report.
    Yeşilyurt A, Dilli D, Oguz S, Dilmen U, Altug N, Candemir Z.
    Genet Couns; 2011 Feb 15; 22(1):35-40. PubMed ID: 21614986
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  • 10. Pericentric inversion with partial 7(q35-->qter) duplication and 7pter deletion: diagnosis by cytogenetic and fish analysis in a 29-year-old male patient.
    Lukusa T, Van Buggenhout G, Devriendt K, Fryns JP.
    Genet Couns; 2002 Feb 15; 13(1):1-10. PubMed ID: 12017231
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  • 11. De novo monosomy 9p24.3-pter and trisomy 17q24.3-qter characterised by microarray comparative genomic hybridisation in a fetus with an increased nuchal translucency.
    Brisset S, Kasakyan S, L'Herminé AC, Mairovitz V, Gautier E, Aubry MC, Benkhalifa M, Tachdjian G.
    Prenat Diagn; 2006 Mar 15; 26(3):206-13. PubMed ID: 16450348
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  • 12. A de novo 8q22.2-24.3 duplication in a patient with mild phenotype.
    Concolino D, Iembo MA, Moricca MT, Rapsomaniki M, Marotta R, Galesi O, Fichera M, Romano C, Strisciuglio P.
    Eur J Med Genet; 2012 Jan 15; 55(1):67-70. PubMed ID: 21971480
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  • 13. Subtelomeric FISH uncovers trisomy 14q32: lessons for imprinted regions, cryptic rearrangements and variant acrocentric short arms.
    Sutton VR, Coveler KJ, Lalani SR, Kashork CD, Shaffer LG.
    Am J Med Genet; 2002 Sep 15; 112(1):23-7. PubMed ID: 12239715
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  • 14. De novo direct duplication 7p (p11.2-->pter) in an Arab child with MCA/MR syndrome: trisomy 7p a delineated syndrome?
    Redha MA, Krishna Murthy DS, al-Awadi SA, al-Sulaiman IS, Sabry MA, el-Bahey SA, Farag TI.
    Ann Genet; 1996 Sep 15; 39(1):5-9. PubMed ID: 9297445
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  • 15. Monosomy 9p24-->pter and trisomy 5q31-->qter: case report and review of two cases.
    Schimmenti LA, Higgins RR, Mendelsohn NJ, Casey TM, Steinberger J, Mammel MC, Wiesner GL.
    Am J Med Genet; 1995 May 22; 57(1):52-6. PubMed ID: 7645598
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  • 18. Perinatal findings and molecular cytogenetic analysis of de novo partial trisomy 16q (16q22.1-->qter) and partial monosomy 20q (20q13.3-->qter).
    Chen CP, Lin SP, Lin CC, Li YC, Chern SR, Chen WM, Lee CC, Hsieh LJ, Wang W.
    Prenat Diagn; 2005 Feb 22; 25(2):112-8. PubMed ID: 15712324
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  • 19. A child with multiple congenital anomalies due to partial trisomy 7q22.1 → qter resulting from a maternally inherited balanced translocation: a case report and review of literature.
    Paththinige CS, Sirisena ND, Kariyawasam UGIU, Ediriweera RC, Kruszka P, Muenke M, Dissanayake VHW.
    BMC Med Genomics; 2018 May 08; 11(1):44. PubMed ID: 29739404
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