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Journal Abstract Search

357 related items for PubMed ID: 7468644

  • 41. [4 cases of trisomy for the short arm of chromosome 9. Individualization of a new morbid entity].
    Rethoré MO, Larget-Piet L, Abonyi D, Boeswillwald M, Berger R, Carpentier S, Cruveiller J, Dutrillau B, Lafourcade J, Penneau M, Lejeune J.
    Ann Genet; 1970 Dec; 13(4):217-32. PubMed ID: 5313386
    [No Abstract] [Full Text] [Related]

  • 42. Constellation of congenital abnormalities in an infant: a new syndrome or tissue-specific mosaicism for trisomy 18?
    Shashi V, Golden WL, von Kap-Herr C, Wilson WG.
    Am J Med Genet; 1996 Mar 01; 62(1):38-41. PubMed ID: 8779322
    [Abstract] [Full Text] [Related]

  • 43. Pallister-Killian Syndrome (PKS) as a Cause of Mental Retardation.
    Shamdeen A, Meyer S, Gottschling S, Oehl-Jaschkowitz B, Gortner L, Shamdeen MG.
    Klin Padiatr; 2009 Mar 01; 221(2):97-9. PubMed ID: 19067289
    [Abstract] [Full Text] [Related]

  • 44. A case of mosaic trisomy 14 due to an isochromosome, i(14q).
    Ozawa N, Xu ZD, Soh K, Takabayashi T, Sato S, Yajima A, Suzuki M, Ikeuchi T, Tonomura A.
    Jinrui Idengaku Zasshi; 1984 Mar 01; 29(1):69-76. PubMed ID: 6748330
    [No Abstract] [Full Text] [Related]

  • 45. Unusual mosaicism of de novo structural abnormalities and ocular anomalies in a male with 13 trisomy syndrome.
    Reardon PC, Greenstein RM, Howard RO, Gianacopolos EK, Breg WR.
    Am J Med Genet; 1981 Mar 01; 10(2):113-8. PubMed ID: 7315868
    [Abstract] [Full Text] [Related]

  • 46. Molecular analysis of chromosome 21 in a patient with a phenotype of Down syndrome and apparently normal karyotype.
    Ahlbom BE, Goetz P, Korenberg JR, Pettersson U, Seemanova E, Wadelius C, Zech L, Annerén G.
    Am J Med Genet; 1996 Jun 28; 63(4):566-72. PubMed ID: 8826436
    [Abstract] [Full Text] [Related]

  • 47. Trisomy 8: an international study of 70 patients.
    Riccardi VM.
    Birth Defects Orig Artic Ser; 1977 Jun 28; 13(3C):171-84. PubMed ID: 890109
    [Abstract] [Full Text] [Related]

  • 48. Duplication 6q24 leads to 6qter in an infant from a balanced paternal translocation.
    Chase TR, Jalal SM, Martsolf JT, Wasdahl WA.
    Am J Med Genet; 1983 Feb 28; 14(2):347-51. PubMed ID: 6837629
    [Abstract] [Full Text] [Related]

  • 49. A fourteen years follow-up of a case of partial trisomy 12q and monosomy 12p recombinants of a familial pericentric inversion of chromosome 12: clinical, cytogenetic and molecular observations.
    Vaglio A, Milunsky A, Huang XL, Quadrelli A, Mechoso B, Quadrelli R.
    Eur J Med Genet; 2007 Feb 28; 50(3):224-32. PubMed ID: 17329177
    [Abstract] [Full Text] [Related]

  • 50. Trisomy 9 mosaicism syndrome. A case report and review of the literature.
    Tarani L, Colloridi F, Raguso G, Rizzuti A, Bruni L, Tozzi MC, Palermo D, Panero A, Vignetti P.
    Ann Genet; 1994 Feb 28; 37(1):14-20. PubMed ID: 8010707
    [Abstract] [Full Text] [Related]

  • 51. C8 trisomy mosaicism syndrome.
    Bijlsma JB, Wijffels JC, Tegelaers WH.
    Helv Paediatr Acta; 1972 Jul 28; 27(3):281-98. PubMed ID: 4645654
    [No Abstract] [Full Text] [Related]

  • 52. The characteristic phenotype of distal 9q3 trisomy is due to duplication of band 9q32.
    Kleczkowska A, Fryns JP, Lemay P, Van den Berghe H.
    Genet Couns; 1993 Jul 28; 4(3):217-21. PubMed ID: 8267931
    [Abstract] [Full Text] [Related]

  • 53. Duplication 8p syndrome: studies in a family with a reciprocal translocation between chromosomes 8 and 12.
    Moreno Fuenmayor HM, Meilinger KL, Rucknagel DL, Mohrenweiser HL, Chu EH.
    Am J Med Genet; 1980 Jul 28; 7(3):361-8. PubMed ID: 7468661
    [Abstract] [Full Text] [Related]

  • 54. Molecular and cytogenetic characterisation of an unusual case of partial trisomy/partial monosomy 13 mosaicism: 46,XX,r(13)(p11q14)/46,XX,der(13)t(13;13)(q10;q14).
    Gentile M, Buonadonna AL, Cariola F, Fiorente P, Valenzano MC, Guanti G.
    J Med Genet; 1999 Jan 28; 36(1):77-82. PubMed ID: 9950374
    [Abstract] [Full Text] [Related]

  • 55. Cytogenetic and molecular analysis in trisomy 12p.
    Allen TL, Brothman AR, Carey JC, Chance PF.
    Am J Med Genet; 1996 May 03; 63(1):250-6. PubMed ID: 8723118
    [Abstract] [Full Text] [Related]

  • 56. 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
    [Abstract] [Full Text] [Related]

  • 57. Partial 3q trisomy due to an unbalanced 3/10 translocation.
    Blumberg B, Moore R, Mohandas T.
    Am J Med Genet; 1980 May 22; 7(3):335-9. PubMed ID: 7468658
    [Abstract] [Full Text] [Related]

  • 58. Trisomy 8 mosaicism: a further five cases illustrating marked clinical and cytogenetic variability.
    Jordan MA, Marques I, Rosendorff J, de Ravel TJ.
    Genet Couns; 1998 May 22; 9(2):139-46. PubMed ID: 9664211
    [Abstract] [Full Text] [Related]

  • 59. Cytogenetic findings in 200 children with mental retardation and multiple congenital anomalies of unknown cause.
    Coco R, Penchaszadeh VB.
    Am J Med Genet; 1982 Jun 22; 12(2):155-73. PubMed ID: 7102722
    [Abstract] [Full Text] [Related]

  • 60. [Ring chromosomes in mosaicism 46, XY, Cr-46, XY].
    Ferrier S, Freund M, Grétillat A.
    Arch Genet (Zur); 1973 Jun 22; 46(1):1-14. PubMed ID: 4731928
    [No Abstract] [Full Text] [Related]

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