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Journal Abstract Search

117 related items for PubMed ID: 7573139

  • 1. CHARGE association in a child with de novo inverted duplication (14)(q22-->q24.3).
    North KN, Wu BL, Cao BN, Whiteman DA, Korf BR.
    Am J Med Genet; 1995 Jul 17; 57(4):610-4. PubMed ID: 7573139
    [Abstract] [Full Text] [Related]

  • 2. 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 Jul 17; 39(1):5-9. PubMed ID: 9297445
    [Abstract] [Full Text] [Related]

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  • 4. U-type exchange in a paracentric inversion as a possible mechanism of origin of an inverted tandem duplication of chromosome 8.
    Mitchell JJ, Vekemans M, Luscombe S, Hayden M, Weber B, Richter A, Sparkes R, Kojis T, Watters G, Der Kaloustian VM.
    Am J Med Genet; 1994 Feb 15; 49(4):384-7. PubMed ID: 8160729
    [Abstract] [Full Text] [Related]

  • 5. Precise mapping of a de novo duplication 18(q21-->q22) utilizing cytogenetic, biochemical, and molecular techniques.
    Wolff DJ, Schwartz MF, Cohen MM, Schwartz S.
    Am J Med Genet; 1993 Jun 15; 46(5):520-3. PubMed ID: 8322813
    [Abstract] [Full Text] [Related]

  • 6. De novo paracentric inversion 14q13q24.1 in a patient with severe involuntary movements, epilepsy, oligodontia and dysmorphic features.
    Peippo M, Tengström C, Arvio M, Valanne L, Oksanen V, Kaakkola S, Ignatius J.
    Genet Couns; 2004 Jun 15; 15(3):341-6. PubMed ID: 15517827
    [Abstract] [Full Text] [Related]

  • 7. de novo inversion-duplication of 2q35-2qter without growth retardation.
    Dahoun-Hadorn S, Bretton-Chappuis B.
    Ann Genet; 1992 Jun 15; 35(1):55-7. PubMed ID: 1610122
    [Abstract] [Full Text] [Related]

  • 8. Protelomeric sequences are deleted in cases of short arm inverted duplication of chromosome 8.
    Barber JC, James RS, Patch C, Temple IK.
    Am J Med Genet; 1994 Apr 15; 50(3):296-9. PubMed ID: 8042676
    [Abstract] [Full Text] [Related]

  • 9. Further contribution to the description of phenotypes associated with partial 4q duplication.
    Zollino M, Zampino G, Torrioli G, Pomponi MG, Neri G.
    Am J Med Genet; 1995 May 22; 57(1):69-73. PubMed ID: 7645603
    [Abstract] [Full Text] [Related]

  • 10. Inverted duplication of chromosome 5p14p15.3 confirmed with in situ hybridization.
    Zenger-Hain JL, Van Dyke DL, Wiktor A, Walker H, Feldman GL.
    Am J Med Genet; 1993 Dec 01; 47(8):1198-201. PubMed ID: 8291556
    [Abstract] [Full Text] [Related]

  • 11. Prenatal detection of de novo paracentric inversion 46, XX inv (14) (q22q32.1) in a normal child: report and review of the literature.
    Hales HA, Peterson CM, Carey J, Hecht BK, Hecht F.
    Am J Med Genet; 1993 Nov 01; 47(6):848-51. PubMed ID: 8279482
    [Abstract] [Full Text] [Related]

  • 12. Rare interstitial deletion (2)(p11.2p13) in a child with pericentric inversion (2)(p11.2q13) of paternal origin.
    Lacbawan FL, White BJ, Anguiano A, Rigdon DT, Ball KD, Bromage GB, Yang X, DiFazio MP, Levin SW.
    Am J Med Genet; 1999 Nov 19; 87(2):139-42. PubMed ID: 10533028
    [Abstract] [Full Text] [Related]

  • 13. Distinct phenotype in maternal uniparental disomy of chromosome 14.
    Healey S, Powell F, Battersby M, Chenevix-Trench G, McGill J.
    Am J Med Genet; 1994 Jun 01; 51(2):147-9. PubMed ID: 8092191
    [Abstract] [Full Text] [Related]

  • 14. A case with de novo interstitial deletion of chromosome 7q21.1-q22.
    Manguoğlu E, Berker-Karaüzüm S, Baumer A, Mihçi E, Taçoy S, Lüleci G, Schinzel A.
    Genet Couns; 2005 Jun 01; 16(2):155-9. PubMed ID: 16080295
    [Abstract] [Full Text] [Related]

  • 15. Interstitial duplication of proximal 22q: phenotypic overlap with cat eye syndrome.
    Knoll JH, Asamoah A, Pletcher BA, Wagstaff J.
    Am J Med Genet; 1995 Jan 16; 55(2):221-4. PubMed ID: 7717422
    [Abstract] [Full Text] [Related]

  • 16. Chromosome 10p11.2-p12.2 duplication: report of a patient and review of the literature.
    Mégarbané A, Gosset P, Souraty N, Lapierre JM, Korban R, Zahed L, Samaras L, Vekemans M, Prieur M.
    Am J Med Genet; 2001 Dec 01; 104(3):204-8. PubMed ID: 11754045
    [Abstract] [Full Text] [Related]

  • 17. Pure direct duplication (12)(q24.1-->q24.2) in a child with Marcus Gunn phenomenon and multiple congenital anomalies.
    Doco-Fenzy M, Mauran P, Lebrun JM, Bock S, Bednarek N, Struski S, Albuisson J, Ardalan A, Collot N, Schneider A, Dastot-Le Moal F, Gaillard D, Goossens M.
    Am J Med Genet A; 2006 Feb 01; 140(3):212-21. PubMed ID: 16411218
    [Abstract] [Full Text] [Related]

  • 18. Prenatal diagnosis of de novo t(2;18;14)(q33.1;q12.2;q31.2), dup(5)(q34q34), del(7)(p21.1p21.1), and del(10)(q25.3q25.3) and a review of the prenatally ascertained de novo apparently balanced complex and multiple chromosomal rearrangements.
    Chen CP, Chern SR, Lee CC, Lin CC, Li YC, Hsieh LJ, Chen WL, Wang W.
    Prenat Diagn; 2006 Feb 01; 26(2):138-46. PubMed ID: 16470734
    [Abstract] [Full Text] [Related]

  • 19. A case of de novo translocation 7; 10 and the duplication 7p, deletion 10p phenotype.
    Park JP, McDermet MK, Moeschler JB, Wurster-Hill DH.
    Ann Genet; 1993 Feb 01; 36(4):217-20. PubMed ID: 8166428
    [Abstract] [Full Text] [Related]

  • 20. Duplication of part of chromosome 1q: clinical report and review of literature.
    Michels VV, Berseth CL, O'Brien JF, Dewald G.
    Am J Med Genet; 1984 May 01; 18(1):125-34. PubMed ID: 6430083
    [Abstract] [Full Text] [Related]

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