BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

569 related articles for article (PubMed ID: 17329177)

  • 1. 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; 50(3):224-32. PubMed ID: 17329177
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Two cousins with partial trisomy 12q and monosomy 12p recombinants of a familial pericentric inversion of the chromosome 12.
    Lagier-Tourenne C; Ginglinger E; Alembik Y; De Saint Martin A; Peter MO; Dulucq P; Jonveaux P; Jeandidier E
    Am J Med Genet A; 2004 Feb; 125A(1):77-85. PubMed ID: 14755471
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Spectral karyotyping and fluorescence in situ hybridization analysis of de novo partial trisomy 7p (7p21.2-->pter) and partial monosomy 12q (12q24.33-->qter).
    Chen CP; Lin SP; Lin CC; Li YC; Hsieh LJ; Huang JK; Lee CC; Wang W
    Genet Couns; 2006; 17(1):57-63. PubMed ID: 16719278
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Beckwith-Wiedemann syndrome due to 11p15.5 paternal duplication associated with Klinefelter syndrome and a "de novo" pericentric inversion of chromosome Y.
    Delicado A; Lapunzina P; Palomares M; Molina MA; Galán E; López Pajares I
    Eur J Med Genet; 2005; 48(2):159-66. PubMed ID: 16053907
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Monosomy 19pter and trisomy 19q13-qter in two siblings arising from a maternal pericentric inversion: clinical data and molecular characterization.
    Schluth-Bolard C; Till M; Rafat A; Labalme A; Le Lorc'h M; Banquart E; Angei C; Cordier MP; Romana SP; Edery P; Sanlaville D
    Eur J Med Genet; 2008; 51(6):622-30. PubMed ID: 18674648
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Partial 18q trisomy and 18p monosomy resulting from a maternal pericentric inversion, inv(18)(p11.2q21.3).
    Asano T; Ikeuchi T; Shinohara T; Enokido H; Hashimoto K
    Jinrui Idengaku Zasshi; 1991 Sep; 36(3):257-65. PubMed ID: 1753439
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A 21 years follow-up of a girl patient with a pseudodicentric bisatellited chromosome 22 associated with partial trisomy 22pter-->22q12.1: clinical, cytogenetic and molecular observations.
    Vaglio A; Milunsky A; Huang XL; Quadrelli A; Mechoso B; Maher TA; Quadrelli R
    Eur J Med Genet; 2008; 51(4):332-42. PubMed ID: 18316257
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Partial monosomy 5p and partial trisomy 5q due to paternal pericentric inversion of chromosome 5.
    Ono K; Ohashi Y; Nakano H; Togashi H; Kannari Y; Isono S
    Jpn J Hum Genet; 1993 Sep; 38(3):319-28. PubMed ID: 8260723
    [TBL] [Abstract][Full Text] [Related]  

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

  • 10. Segregation of a paternal insertional translocation results in partial 4q monosomy or 4q trisomy in two siblings.
    Hegmann KM; Spikes AS; Orr-Urtreger A; Shaffer LG
    Am J Med Genet; 1996 Jan; 61(1):10-5. PubMed ID: 8741910
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Prenatal findings and molecular cytogenetic analyses of partial trisomy 12q (12q24.32-->qter) and partial monosomy 21q (21q22.2-->qter).
    Chen CP; Chern SR; Lin CC; Wang TH; Li YC; Hsieh LJ; Lee CC; Hua HM; Wang W
    Prenat Diagn; 2006 Apr; 26(4):313-20. PubMed ID: 16506269
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A familial complex chromosome translocation resulting in duplication of 6p25.
    Vermeesch JR; Thoelen R; Fryns JP
    Ann Genet; 2004; 47(3):275-80. PubMed ID: 15337473
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Recombinant 4 syndrome due to an unbalanced pericentric inversion of chromosome 4.
    Battaglia A; Brothman AR; Carey JC
    Am J Med Genet; 2002 Sep; 112(1):103-6. PubMed ID: 12239731
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Clinical and molecular cytogenetic studies in a case with partial trisomy 12p due to a de novo supernumerary ring chromosome.
    Ausems MG; Schuil J; Van Raveswaaij-Arts C; De Pater JM
    Genet Couns; 2004; 15(4):405-10. PubMed ID: 15658615
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Partial 6q monosomy/partial 12q trisomy in a child with features of Kabuki make-up syndrome.
    Jardine PE; Burvill-Holmes LC; Schutt WH; Lunt PW
    Clin Dysmorphol; 1993 Jul; 2(3):269-73. PubMed ID: 8287190
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Clinical and molecular cytogenetic observations in three cases of "trisomy 12p syndrome".
    Rauch A; Trautmann U; Pfeiffer RA
    Am J Med Genet; 1996 May; 63(1):243-9. PubMed ID: 8723117
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Tetrasomy 12pter-12p13.31 in a girl with partial Pallister-Killian syndrome phenotype.
    Vermeesch JR; Melotte C; Salden I; Riegel M; Trifnov V; Polityko A; Rumyantseva N; Naumchik I; Starke H; Matthijs G; Schinzel A; Fryns JP; Liehr T
    Eur J Med Genet; 2005; 48(3):319-27. PubMed ID: 16179227
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Familial 10p trisomy resulting from a maternal pericentric inversion.
    Kozma C; Meck JM
    Am J Med Genet; 1994 Feb; 49(3):281-7. PubMed ID: 8209887
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Pericentric inversion with partial 7(q35-->qter) duplication and 7pter deletion: diagnosis by cytogenetic and fish analysis in a 29-year-old male patient.
    Lukusa T; Van Buggenhout G; Devriendt K; Fryns JP
    Genet Couns; 2002; 13(1):1-10. PubMed ID: 12017231
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Recurrent proximal 18p monosomy and 18q trisomy in a family with a maternal pericentric inversion of chromosome 18.
    Prabhakara K; Wyandt HE; Huang XL; Prasad KS; Ramadevi AR
    Ann Genet; 2004; 47(3):297-303. PubMed ID: 15337476
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 29.