BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

79 related articles for article (PubMed ID: 12239721)

  • 1. De novo complete trisomy 5p: clinical and neuroradiological findings.
    Grosso S; Cioni M; Garibaldi G; Pucci L; Galluzzi P; Canapicchi R; Morgese G; Balestri P
    Am J Med Genet; 2002 Sep; 112(1):56-60. PubMed ID: 12239721
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Proximal 5p trisomy resulting from a marker chromosome implicates band 5p13 in 5p trisomy syndrome.
    Avansino JR; Dennis TR; Spallone P; Stock AD; Levin ML
    Am J Med Genet; 1999 Nov; 87(1):6-11. PubMed ID: 10528239
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 6. Gain of an isochromosome 5p: a rare recurrent abnormality in acute myeloid leukemia.
    Panani AD
    In Vivo; 2006; 20(3):359-60. PubMed ID: 16724670
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Trisomy 6q syndrome: a case with a << de novo >> 6q23 tandem duplication.
    Causio F; Fischetto R; Carnevale F; Pansini A; Rocchi M
    Genet Couns; 2001; 12(2):145-50. PubMed ID: 11491309
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A de novo subtelomeric monosomy 11q (11q24.2-qter) and trisomy 20q (20q13.3-qter) in a girl with findings compatible with Jacobsen syndrome: case report and review.
    Courtens W; Wauters J; Wojciechowski M; Reyniers E; Scheers S; van Luijk R; Rooms L; Kooy F; Wuyts W
    Clin Dysmorphol; 2007 Oct; 16(4):231-9. PubMed ID: 17786114
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Two cases with partial trisomy 9p: molecular cytogenetic characterization and clinical follow-up.
    Littooij AS; Hochstenbach R; Sinke RJ; van Tintelen P; Giltay JC
    Am J Med Genet; 2002 Apr; 109(2):125-32. PubMed ID: 11977161
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A variant Cri du Chat phenotype and autism spectrum disorder in a subject with de novo cryptic microdeletions involving 5p15.2 and 3p24.3-25 detected using whole genomic array CGH.
    Harvard C; Malenfant P; Koochek M; Creighton S; Mickelson EC; Holden JJ; Lewis ME; Rajcan-Separovic E
    Clin Genet; 2005 Apr; 67(4):341-51. PubMed ID: 15733271
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Phenotypic and cytogenetic spectrum of 9p trisomy.
    Temtamy SA; Kamel AK; Ismail S; Helmy NA; Aglan MS; El Gammal M; El Ruby M; Mohamed AM
    Genet Couns; 2007; 18(1):29-48. PubMed ID: 17515299
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [Molecular-cytogenetic identification of partial trisomy of a short arm of chromosome 8].
    Zerova-Liubimova TE; Rigel M; Smul'skaia NA; Evseenkova EG; Gorovenko NG; Shintzel A
    Tsitol Genet; 2004; 38(4):55-61. PubMed ID: 15715166
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. 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]  

  • 15. Prenatal detection of a de novo terminal inverted duplication 4p in a fetus with the Wolf-Hirschhorn syndrome phenotype.
    Beaujard MP; Jouannic JM; Bessières B; Borie C; Martin-Luis I; Fallet-Bianco C; Portnoï MF
    Prenat Diagn; 2005 Jun; 25(6):451-5. PubMed ID: 15966060
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Fluorescence in situ hybridization improves the detection of 5q31 deletion in myelodysplastic syndromes without cytogenetic evidence of 5q-.
    Mallo M; Arenillas L; Espinet B; Salido M; Hernández JM; Lumbreras E; del Rey M; Arranz E; Ramiro S; Font P; González O; Renedo M; Cervera J; Such E; Sanz GF; Luño E; Sanzo C; González M; Calasanz MJ; Mayans J; García-Ballesteros C; Amigo V; Collado R; Oliver I; Carbonell F; Bureo E; Insunza A; Yañez L; Muruzabal MJ; Gómez-Beltrán E; Andreu R; León P; Gómez V; Sanz A; Casasola N; Moreno E; Alegre A; Martín ML; Pedro C; Serrano S; Florensa L; Solé F
    Haematologica; 2008 Jul; 93(7):1001-8. PubMed ID: 18591625
    [TBL] [Abstract][Full Text] [Related]  

  • 17. De novo complete trisomy 5p: clinical report and FISH studies.
    Reichenbach H; Holland H; Dalitz E; Demandt C; Meiner A; Chudoba I; Lemke J; Claussen U; Froster UG
    Am J Med Genet; 1999 Aug; 85(5):447-51. PubMed ID: 10405440
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 4.