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Journal Abstract Search

586 related items for PubMed ID: 10631922

  • 21. Joubert syndrome co-existing with partial Xp trisomy: review of the literature.
    Güven GS, Fenerci EY, Deviren A, Ozkiliç A, Yüksel A, Hacihanefioğlu S.
    Genet Couns; 2004; 15(3):321-8. PubMed ID: 15517825
    [Abstract] [Full Text] [Related]

  • 22. Distal trisomy 10q/partial monosomy 14q: an unusual clinical picture.
    Bregant L, Gersak K, Veble A.
    Genet Couns; 2005; 16(1):59-63. PubMed ID: 15844780
    [Abstract] [Full Text] [Related]

  • 23. [Rethoré syndrome (9p trisomy) with unusual karyotype: 46,XX,-9, + der 9p, t(9;9)mat].
    Di Cesare D, Paludetto R, Casullo C, Pagano L, Stabile M, Sicolo A, Ventruto V.
    Minerva Pediatr; 1980 Dec 15; 32(23):1349-52. PubMed ID: 7219376
    [No Abstract] [Full Text] [Related]

  • 24.
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  • 25. New chromosome aberration: duplication of a large part of chromosome 4q and partial deletion of chromosome 1q.
    Merlob P, Kohn G, Litwin A, Nissenkorn I, Katznelson MB, Reisner SH.
    Am J Med Genet; 1989 Jan 15; 32(1):22-6. PubMed ID: 2705479
    [Abstract] [Full Text] [Related]

  • 26. Dynamic mosaicism involving an unstable supernumerary der(22) chromosome in cat eye syndrome.
    Urioste M, Visedo G, Sanchís A, Sentís C, Villa A, Ludeña P, Hortigüela JL, Martínez-Frías ML, Fernández-Piqueras J.
    Am J Med Genet; 1994 Jan 01; 49(1):77-82. PubMed ID: 8172255
    [Abstract] [Full Text] [Related]

  • 27. 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]

  • 28. Partial X chromosome trisomy with functional disomy of Xp due to failure of X inactivation.
    Gustashaw KM, Zurcher V, Dickerman LH, Stallard R, Willard HF.
    Am J Med Genet; 1994 Oct 15; 53(1):39-45. PubMed ID: 7802034
    [Abstract] [Full Text] [Related]

  • 29. Trisomy 18q: 46,XX,-10,+der(10) t(10;18) (p15;q12) pat: a case report.
    Murthy SK, Kar B, Prabhakara K, Krishnamurthy DS.
    Ann Genet; 1992 Oct 15; 35(3):174-7. PubMed ID: 1466569
    [Abstract] [Full Text] [Related]

  • 30. Mosaic 13 trisomy due to de novo 13/13 translocation with subsequent fission. Karyotype: 46,XX,-13, +t(13;13)(p11;q11)/46,XX,del(13)(p11). A second example.
    Fryns JP, Kleczkowska A, Jaeken J, Van Herck K, Van den Berghe MH.
    Ann Genet; 1989 Oct 15; 32(3):177-9. PubMed ID: 2486064
    [Abstract] [Full Text] [Related]

  • 31. A case of partial 9p monosomy with some unusual clinical features.
    Rutten FJ, Hustinx TW, Dunk-Tillemans AA, Scheres JM, Tjon YS.
    Ann Genet; 1978 Mar 15; 21(1):51-5. PubMed ID: 308344
    [Abstract] [Full Text] [Related]

  • 32. Unusual mosaic trisomy 13 through 13/13 translocation and monosomy 13 with a small ring.
    Jalal SM, Martin JA, Benjamin TR, Kukolich MK, Townsend-Parcham JK.
    Ann Genet; 1990 Mar 15; 33(3):173-5. PubMed ID: 2288463
    [Abstract] [Full Text] [Related]

  • 33. 46,XX,-12,+der(12),rcp(3;12)(p25.1;p13.31)pat karyotype in a girl. Probable subregional assignment of glyceraldehyde-3-phosphate dehydrogenase locus to 12p13.1----p13.31 by exclusion mapping.
    Rivas F, Vaca G, Zúñiga G, González RM, Ruiz C, Rivera H, Moller M, Cantu JM.
    Ann Genet; 1985 Mar 15; 28(3):189-92. PubMed ID: 3879156
    [Abstract] [Full Text] [Related]

  • 34. [A new case of trisomy 5p].
    Antonenko VG, Levina LIa, Chudnova VI.
    Genetika; 1985 Dec 15; 21(12):2066-70. PubMed ID: 4085794
    [Abstract] [Full Text] [Related]

  • 35. Clinical and cytogenetic features of a patient with partial trisomy 8q and partial monosomy 13q delineated by array comparative genomic hybridization.
    Sohn YB, Yun JN, Park SJ, Park MS, Kim SH, Lee JH.
    Ann Clin Lab Sci; 2013 Dec 15; 43(3):332-6. PubMed ID: 23884231
    [Abstract] [Full Text] [Related]

  • 36. Unique case of trisomy 2p24.3-pter with no associated monosomy.
    Roggenbuck JA, Fink JM, Mendelsohn NJ.
    Am J Med Genet; 2001 Jun 01; 101(1):50-4. PubMed ID: 11343338
    [Abstract] [Full Text] [Related]

  • 37. Follow-up of a patient with partial trisomy 9p and partial monosomy 8p; description of physical and psychosocial development.
    Ausems MG, Van Spijker HG, Dijkhuis HJ, Swanenburg De Veye HF, Bijlsma JB.
    Genet Couns; 1996 Jun 01; 7(1):61-5. PubMed ID: 8652090
    [Abstract] [Full Text] [Related]

  • 38. Partial 3p trisomy and different rearrangements involving chromosome 3 in the proposita's family.
    de Pina Neto JM, Ferrari I.
    Am J Med Genet; 1980 Jun 01; 5(1):25-33. PubMed ID: 7395898
    [Abstract] [Full Text] [Related]

  • 39. Partial monosomy 22pter leads to q11 in a newborn with the clinical features of trisomy 13 syndrome.
    Back E, Stier R, Böhm N, Adlung A, Hameister H.
    Ann Genet; 1980 Jun 01; 23(4):244-8. PubMed ID: 6971606
    [Abstract] [Full Text] [Related]

  • 40. Nonrandom chromosomal changes in retinoblastomas.
    Pogosianz HE, Kuznetsova LE.
    Arch Geschwulstforsch; 1986 Jun 01; 56(2):135-43. PubMed ID: 3707294
    [Abstract] [Full Text] [Related]

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