BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

333 related articles for article (PubMed ID: 9741467)

  • 1. Partial tetrasomy with triplication of chromosome (5) (p14-p15.33) in a patient with severe multiple congenital anomalies.
    Harrison KJ; Teshima IE; Silver MM; Jay V; Unger S; Robinson WP; James A; Levin A; Chitayat D
    Am J Med Genet; 1998 Sep; 79(2):103-7. PubMed ID: 9741467
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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; 47(8):1198-201. PubMed ID: 8291556
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A patient with an interstitial duplication of chromosome 5p11-p13.3 further confirming a critical region for 5p duplication syndrome.
    Loscalzo ML; Becker TA; Sutcliffe M
    Eur J Med Genet; 2008; 51(1):54-60. PubMed ID: 18006398
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Two sibs with different phenotypes due to adjacent-1 segregation of a subtle translocation t(4;5)(p16.3;p15.3)mat.
    Qumsiyeh MB; Stevens CA
    Am J Med Genet; 1993 Sep; 47(3):387-91. PubMed ID: 8135287
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Characterization of a complex chromosomal rearrangement in a patient with a typical catlike cry and no other clinical findings of cri-du-chat syndrome.
    Sreekantaiah C; Kronn D; Marinescu RC; Goldin B; Overhauser J
    Am J Med Genet; 1999 Sep; 86(3):264-8. PubMed ID: 10482877
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Partial trisomy of the distal part of 10q: a report of two Egyptian cases.
    Aglan MS; Kamel AK; Helmy NA
    Genet Couns; 2008; 19(2):199-209. PubMed ID: 18618995
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Duplication 9q34-->qter identified by chromosome painting.
    Spinner NB; Lucas JN; Poggensee M; Jacquette M; Schneider A
    Am J Med Genet; 1993 Mar; 45(5):609-13. PubMed ID: 8456834
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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; 55(2):221-4. PubMed ID: 7717422
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Use of fluorescence in situ hybridization to clarify a complex chromosomal rearrangement in a child with multiple congenital anomalies.
    Spikes AS; Hegmann K; Smith JL; Shaffer LG
    Am J Med Genet; 1995 May; 57(1):31-4. PubMed ID: 7645595
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Molecular and cytogenetic characterization of 9p- abnormalities.
    Teebi AS; Gibson L; McGrath J; Meyn MS; Breg WR; Yang-Feng TL
    Am J Med Genet; 1993 May; 46(3):288-92. PubMed ID: 8488873
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Partial trisomy 15q: report of a patient and literature review.
    Chandler K; Schrander-Stumpel CT; Engelen J; Theunissen P; Fryns JP
    Genet Couns; 1997; 8(2):91-7. PubMed ID: 9219006
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Boy with an interstitial 1q (q31q41) duplication confirmed by fluorescent in situ hybridisation.
    Sillén A; Wadelius C; Annerén G
    Am J Med Genet; 1998 Nov; 80(2):163-8. PubMed ID: 9805135
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Tetrasomy 15q25-->qter: cytogenetic and molecular characterization of an analphoid supernumerary marker chromosome.
    Rowe AG; Abrams L; Qu Y; Chen E; Cotter PD
    Am J Med Genet; 2000 Aug; 93(5):393-8. PubMed ID: 10951463
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Duplication of 11p14.3-p15.1 in a mentally retarded proband and his mother detected by G-banding and confirmed by high-resolution CGH and BAC FISH.
    Wyandt HE; Shim SH; Mark HF; Huang XL; Milunsky JM
    Exp Mol Pathol; 2006 Jun; 80(3):262-6. PubMed ID: 16516886
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 17p11.2p12 triplication and del(17)q11.2q12 in a severely affected child with dup(17)p11.2p12 syndrome.
    Girirajan S; Williams S; Garbern J; Nowak N; Hatchwell E; Elsea S
    Clin Genet; 2007 Jul; 72(1):47-58. PubMed ID: 17594399
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A complex chromosome rearrangement with at least five breakpoints studied by fluorescence in situ hybridization.
    Gibson LH; McGrath J; Yang-Feng TL
    Am J Med Genet; 1997 Feb; 68(4):417-20. PubMed ID: 9021014
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Identification of an unusual marker chromosome by spectral karyotyping.
    Huang B; Ning Y; Lamb AN; Sandlin CJ; Jamehdor M; Ried T; Bartley J
    Am J Med Genet; 1998 Dec; 80(4):368-72. PubMed ID: 9856565
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Molecular studies of segmental aneusomy: FISHing for the atypical cry in del(5)(p15.3).
    Hodge JC; Lawson-Yuen A; Stoler JM; Ligon AH
    Cytogenet Genome Res; 2007; 119(1-2):15-20. PubMed ID: 18160776
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Cri du chat mosaicism: an unusual case of partial deletion and partial deletion/ duplication of the short arm of chromosome 5, leading to an unusual cri du chat phenotype.
    Murru D; Boccone L; Ristaldi MS; Nucaro AL
    Genet Couns; 2008; 19(4):381-6. PubMed ID: 19239081
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 17.