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Journal Abstract Search

188 related items for PubMed ID: 3943858

  • 41. Familial Wolf's syndrome with a hidden 4p deletion by translocation of an 8p segment. Unbalanced inheritance from a maternal translocation (4;8)(p15.3;p22). Case report, review and risk estimates.
    Stengel-Rutkowski S, Warkotsch A, Schimanek P, Stene J.
    Clin Genet; 1984 Jun; 25(6):500-21. PubMed ID: 6539659
    [Abstract] [Full Text] [Related]

  • 42. De novo simultaneous reciprocal translocation and deletion.
    Fries K, Mundel G, Rosenblatt M.
    J Med Genet; 1978 Apr; 15(2):152-4. PubMed ID: 641951
    [Abstract] [Full Text] [Related]

  • 43. Genetic risks for familial reciprocal translocations with special emphasis on those leading to 9p, 10p and 12p trisomies.
    Stene J, Stengel-Rutkowski S.
    Ann Hum Genet; 1982 Jan 01; 46(1):41-74. PubMed ID: 7103412
    [Abstract] [Full Text] [Related]

  • 44. Mental retardation in association with a balanced X-autosome translocation and random inactivation of the X chromosomes.
    Sands ME.
    Clin Genet; 1980 May 01; 17(5):309-16. PubMed ID: 7438488
    [Abstract] [Full Text] [Related]

  • 45. Mental retardation associated with "balanced" chromosome rearrangements.
    Funderburk SJ, Spence MA, Sparkes RS.
    Am J Hum Genet; 1977 Mar 01; 29(2):136-41. PubMed ID: 848489
    [Abstract] [Full Text] [Related]

  • 46. [Pedigree analysis of childless families of reciprocal chromosome translocation carriers].
    Stasiewicz-Jarocka B, Panasiuk B, Sawicka A, Leśniewicz R, Midro AT.
    Ginekol Pol; 1998 Dec 01; 69(12):1183-90. PubMed ID: 10224801
    [Abstract] [Full Text] [Related]

  • 47. De novo balanced 5;21 translocation in a child with acrobrachycephaly, ventriculomegaly, pulmonary stenosis, ectopic anus and mental retardation.
    Hordnes K, Engebretsen LF, Knudtzon J.
    Clin Genet; 1995 Dec 01; 48(6):321-3. PubMed ID: 8835329
    [Abstract] [Full Text] [Related]

  • 48. Meiotic segregation analysis in male translocation carriers by using fluorescent in situ hybridization.
    Nishikawa N, Sato T, Suzumori N, Sonta S, Suzumori K.
    Int J Androl; 2008 Feb 01; 31(1):60-6. PubMed ID: 17459123
    [Abstract] [Full Text] [Related]

  • 49. Clinical application of whole-genome low-coverage next-generation sequencing to detect and characterize balanced chromosomal translocations.
    Liang D, Wang Y, Ji X, Hu H, Zhang J, Meng L, Lin Y, Ma D, Jiang T, Jiang H, Asan, Song L, Guo J, Hu P, Xu Z.
    Clin Genet; 2017 Apr 01; 91(4):605-610. PubMed ID: 27491356
    [Abstract] [Full Text] [Related]

  • 50. Mental retardation with 45 chromosomes 45,XX,--5,--14,+der(5) t(5,14)(p15;q13) mat due to familial balanced reciprocal translocation.
    Fried K, Tieder M, Beer S, Rosenblatt M, Krespin HI.
    J Med Genet; 1977 Feb 01; 14(1):68-72. PubMed ID: 839506
    [Abstract] [Full Text] [Related]

  • 51. Multiple occurrence of psychomotor retardation and recurrent miscarriages in a family with a submicroscopic reciprocal translocation t(7;17)(p22;p13.2).
    Pasińska M, Łazarczyk E, Jułga K, Bartnik-Głaska M, Nowakowska B, Haus O.
    BMC Med Genomics; 2018 Aug 20; 11(1):69. PubMed ID: 30126420
    [Abstract] [Full Text] [Related]

  • 52. Nonreciprocal and jumping translocations of 15q1----qter in Prader-Willi syndrome.
    Rivera H, Zuffardi O, Gargantini L.
    Am J Med Genet; 1990 Nov 20; 37(3):311-7. PubMed ID: 2260556
    [Abstract] [Full Text] [Related]

  • 53. Molecular analysis of a constitutional complex genome rearrangement with 11 breakpoints involving chromosomes 3, 11, 12, and 21 and a approximately 0.5-Mb submicroscopic deletion in a patient with mild mental retardation.
    Borg K, Stankiewicz P, Bocian E, Kruczek A, Obersztyn E, Lupski JR, Mazurczak T.
    Hum Genet; 2005 Nov 20; 118(2):267-75. PubMed ID: 16160854
    [Abstract] [Full Text] [Related]

  • 54. [Analysis of synaptonemal complex from a carrier with 46,XY,t(11;18) balanced translocation].
    Liu JY, Wang XR, Zeng XL, Zhang CS, Song YC.
    Yi Chuan Xue Bao; 2004 Feb 20; 31(2):125-31. PubMed ID: 15473301
    [Abstract] [Full Text] [Related]

  • 55. Two reciprocal translocations associated with microcephaly and retardation.
    Bell EF, Warburton D.
    J Med Genet; 1977 Apr 20; 14(2):141-2. PubMed ID: 853319
    [Abstract] [Full Text] [Related]

  • 56. Balanced and unbalanced reciprocal translocation: an overview of a 30-year experience in a single tertiary medical center in Taiwan.
    Chang YW, Wang PH, Li WH, Chen LC, Chang CM, Sung PL, Yang MJ, Cheng LY, Lai YL, Cheng YY, Yeh CC, Chang WH, Wang SY, Chen SR, Yen MS, Chao KC.
    J Chin Med Assoc; 2013 Mar 20; 76(3):153-7. PubMed ID: 23497968
    [Abstract] [Full Text] [Related]

  • 57. Unbalanced karyotype with normal phenotype in a family with translocation (8;13)(p21;q22).
    Bröcker-Vriends AH, van de Kamp JJ, Geraedts JP, Bos SE, Nijenhuis TA.
    Clin Genet; 1985 May 20; 27(5):487-95. PubMed ID: 4006274
    [Abstract] [Full Text] [Related]

  • 58. [Pregnancy outcomes of 194 couples with balanced translocations].
    Zhang YP, Xu JZ, Yin M, Chen MF, Ren DL.
    Zhonghua Fu Chan Ke Za Zhi; 2006 Sep 20; 41(9):592-6. PubMed ID: 17181967
    [Abstract] [Full Text] [Related]

  • 59. At least nine cases of trisomy 11q23-->qter in one generation as a result of familial t(11;13) translocation.
    Smeets D, van Ravenswaaij C, de Pater J, Gerssen-Schoorl K, Van Hemel J, Janssen G, Smits A.
    J Med Genet; 1997 Jan 20; 34(1):18-23. PubMed ID: 9032644
    [Abstract] [Full Text] [Related]

  • 60. Balanced rearrangements of the autosomes: results of a longitudinal study of a newborn survey population.
    Tierney I, Axworthy D, Smith L, Ratcliffe SG.
    J Med Genet; 1984 Feb 20; 21(1):45-51. PubMed ID: 6694184
    [Abstract] [Full Text] [Related]

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