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Journal Abstract Search

78 related items for PubMed ID: 7493115

  • 1. Ocular anomalies in an unbalanced translocation between chromosomes 7 and 8.
    Vereecken G, Leroy B, Speleman F, Hanssens M, Meire F.
    Bull Soc Belge Ophtalmol; 1994; 254():147-55. PubMed ID: 7493115
    [Abstract] [Full Text] [Related]

  • 2. Identification of a subtle chromosomal translocation in a family with recurrent miscarriages and a child with multiple congenital anomalies. A case report.
    Shaffer LG, Spikes AS, Macha M, Dunn R.
    J Reprod Med; 1996 May; 41(5):367-71. PubMed ID: 8725766
    [Abstract] [Full Text] [Related]

  • 3. Two cases of partial trisomy 10q syndrome due to a familial 10;20 translocation.
    Tüysüz B, Hacihanefioglu S, Silahtaroglu A, Yilmaz S, Deviren A, Cenani A.
    Genet Couns; 2000 May; 11(4):355-61. PubMed ID: 11140413
    [Abstract] [Full Text] [Related]

  • 4. Familial translocation resulting in Wolf-Hirschhorn syndrome in two related unbalanced individuals: clinical evaluation of a 39-year-old man with Wolf-Hirschhorn syndrome.
    Wheeler PG, Weaver DD, Palmer CG.
    Am J Med Genet; 1995 Feb 13; 55(4):462-5. PubMed ID: 7762587
    [Abstract] [Full Text] [Related]

  • 5. Cyclopia and cebocephaly in two newborn infants with unbalanced segregation of a familial translocation rcp (1;7)(q32;q34).
    Schinzel A.
    Am J Med Genet; 1984 May 13; 18(1):153-61. PubMed ID: 6430085
    [Abstract] [Full Text] [Related]

  • 6. 8q22-->qter duplication in a child with multiple congenital malformations: case report.
    Sasiadek M, Stembalska A, Schlade K, Zych M.
    Med Sci Monit; 2000 May 13; 6(1):141-4. PubMed ID: 11208302
    [Abstract] [Full Text] [Related]

  • 7. Inheritance of a translocation between chromosomes 12 and 16 in a family with recurrent miscarriages and a newborn with Down syndrome carrying the same translocation.
    Pazarbaşi A, Demirhan O, Turgut M, Güzel I, Taştemir D.
    Genet Couns; 2008 May 13; 19(3):301-8. PubMed ID: 18990986
    [Abstract] [Full Text] [Related]

  • 8. Identification of an unbalanced cryptic translocation between the chromosomes 8 and 13 in two sisters with mild mental retardation accompanied by mild dysmorphic features.
    Kleefstra T, van de Zande G, Merkx G, Mieloo H, Hoovers JM, Smeets D.
    Eur J Hum Genet; 2000 Aug 13; 8(8):637-40. PubMed ID: 10951526
    [Abstract] [Full Text] [Related]

  • 9. Detection of an unbalanced t(4;15) by FISH in a child with multiple congenital anomalies.
    Celep F, Acar H, Aynaci O, Aynaci FM, Karagüzel A.
    Genet Couns; 2001 Aug 13; 12(4):319-26. PubMed ID: 11837600
    [Abstract] [Full Text] [Related]

  • 10. [Minor ocular manifestations in a case of D trisomy by 13-14 translocation. Coloboma of the iris, congenital retinal fold, without microphthalmia or choroid coloboma].
    Seringe P, Dhermy P, Loewe-Lyon S, Despres P, Aron JJ.
    Arch Ophtalmol Rev Gen Ophtalmol; 1971 Aug 13; 31(6):497-516. PubMed ID: 4255267
    [No Abstract] [Full Text] [Related]

  • 11. High risk for unbalanced segregation of some reciprocal translocations: a large pedigree containing distal 4q trisomy from t(4;7)(q28;p22).
    Francisco-Bagnariolli AM, Payão SL, Kawasaki-Oyama RS, Sabbag Filho D, Segato R, de Labio RW, Chauffaille ML, Priest JH.
    Am J Med Genet; 2001 Nov 01; 103(4):302-7. PubMed ID: 11746010
    [Abstract] [Full Text] [Related]

  • 12. De novo translocation involving chromosomes 1 and 4 resulting in partial duplication of 4q and partial deletion of 1p.
    Legare JM, Sekhon GS, Laxova R.
    Am J Med Genet; 1994 Nov 15; 53(3):216-21. PubMed ID: 7856655
    [Abstract] [Full Text] [Related]

  • 13. Partial trisomy 1p due to paternal t(1;9) translocation in a family with recurrent miscarriages.
    Demirhan O, Tastemir D.
    Fertil Steril; 2006 Jul 15; 86(1):219.e15-9. PubMed ID: 16818035
    [Abstract] [Full Text] [Related]

  • 14. Trisomy 17p11-pter: unbalanced pericentric inversion, inv(17)(p11q25) in two patients, unbalanced translocations t(4;17)(q27;p11) in a newborn and t(4;17) (p16;p11.2) in a fetus.
    Lurie IW, Gurevich DB, Binkert F, Schinzel A.
    Clin Dysmorphol; 1995 Jan 15; 4(1):25-32. PubMed ID: 7735502
    [Abstract] [Full Text] [Related]

  • 15. [Reciprocal translocation t (5p--;19p+) in three generations (author's transl)].
    Majewski F, Kim MA, Haberlandt WF, Niemczyk HM.
    Z Kinderheilkd; 1975 Sep 11; 120(3):223-30. PubMed ID: 1179795
    [Abstract] [Full Text] [Related]

  • 16. Delineation of a supernumerary marker chromosome utilizing a multimodal approach of G-banding, fluorescent in situ hybridization, confirmatory P1 artificial chromosome fluorescent in situ hybridization, and high-resolution comparative genomic hybridization.
    Mark HF, Wyandt H, Huang XL, Milunsky JM.
    Clin Genet; 2005 Aug 11; 68(2):146-51. PubMed ID: 15996211
    [Abstract] [Full Text] [Related]

  • 17. Monosomy 11q: report of two familial cases and review of the literature.
    Hustinx R, Verloes A, Grattagliano B, Herens C, Jamar M, Soyeur D, Schaaps JP, Koulischer L.
    Am J Med Genet; 1993 Sep 01; 47(3):312-7. PubMed ID: 8135272
    [Abstract] [Full Text] [Related]

  • 18. A dysmorphic newborn infant with a complex rearrangement involving chromosomes 2, 4, and 6 detected by fluorescence in situ hybridization (FISH).
    Hoffman DJ, Punnett HH, Pyeritz RE.
    Am J Perinatol; 2004 Feb 01; 21(2):69-71. PubMed ID: 15017469
    [Abstract] [Full Text] [Related]

  • 19. Unbalanced mosaic karyotypes with different structural abnormalities involving a common chromosome region: report of two cases.
    Pettenati MJ, Teot LA, Smith C, Hayworth R, Thomas IT, Veille JC, Rao PN.
    Am J Med Genet; 1993 Feb 01; 45(3):365-9. PubMed ID: 8434625
    [Abstract] [Full Text] [Related]

  • 20. Unbalanced translocation in a mother and her son in one of two 5;10 translocation families.
    Barber JC, Temple IK, Campbell PL, Collinson MN, Campbell CM, Renshaw RM, Dennis NR.
    Am J Med Genet; 1996 Mar 01; 62(1):84-90. PubMed ID: 8779332
    [Abstract] [Full Text] [Related]

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