BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

210 related articles for article (PubMed ID: 21215339)

  • 1. An unusual chromosome 22q11 deletion associated with an apparent complementary ring chromosome in a phenotypically normal woman.
    Toutain J; Taine L; Morice-Picard F; Hallal H; Dai ZQ; Arveiler B; Lacombe D; Horovitz J; Saura R
    Eur J Med Genet; 2011; 54(3):292-4. PubMed ID: 21215339
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Dual-probe fluorescence in situ hybridization assay for detecting deletions associated with VCFS/DiGeorge syndrome I and DiGeorge syndrome II loci.
    Berend SA; Spikes AS; Kashork CD; Wu JM; Daw SC; Scambler PJ; Shaffer LG
    Am J Med Genet; 2000 Apr; 91(4):313-7. PubMed ID: 10766989
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Supernumerary ring chromosome in a Bednar tumor (pigmented dermatofibrosarcoma protuberans) is composed of interspersed sequences from chromosomes 17 and 22: a fluorescence in situ hybridization and comparative genomic hybridization analysis.
    Nishio J; Iwasaki H; Ishiguro M; Ohjimi Y; Yo S; Isayama T; Naito M; Kikuchi M
    Genes Chromosomes Cancer; 2001 Mar; 30(3):305-9. PubMed ID: 11170290
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Ring chromosome 21 and reproductive pattern: a familial case and review of the literature.
    Bertini V; Valetto A; Uccelli A; Tarantino E; Simi P
    Fertil Steril; 2008 Nov; 90(5):2004.e1-5. PubMed ID: 18371955
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Deletion of 22q11 in two brothers with different phenotype.
    Kasprzak L; Der Kaloustian VM; Elliott AM; Shevell M; Lejtenyi C; Eydoux P
    Am J Med Genet; 1998 Jan; 75(3):288-91. PubMed ID: 9475599
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Prenatal detection and characterization of a small supernumerary marker chromosome (sSMC) derived from chromosome 22 with apparently normal phenotype.
    Lin CC; Hsieh YY; Wang CH; Li YC; Hsieh LJ; Lee CC; Tsai CH; Tsai FJ
    Prenat Diagn; 2006 Oct; 26(10):898-902. PubMed ID: 16915592
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Ring chromosome formation as a novel escape mechanism in patients with inverted duplication and terminal deletion.
    Knijnenburg J; van Haeringen A; Hansson KB; Lankester A; Smit MJ; Belfroid RD; Bakker E; Rosenberg C; Tanke HJ; Szuhai K
    Eur J Hum Genet; 2007 May; 15(5):548-55. PubMed ID: 17342151
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 22q11.2 microduplication in a family with recurrent fetal congenital heart disease.
    Hu P; Ji X; Yang C; Zhang J; Lin Y; Cheng J; Ma D; Cao L; Yi L; Xu Z
    Eur J Med Genet; 2011; 54(4):e433-6. PubMed ID: 21473936
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation.
    Koolen DA; Reardon W; Rosser EM; Lacombe D; Hurst JA; Law CJ; Bongers EM; van Ravenswaaij-Arts CM; Leisink MA; van Kessel AG; Veltman JA; de Vries BB
    Eur J Hum Genet; 2005 Sep; 13(9):1019-24. PubMed ID: 15986041
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Genomic findings in patients with clinical suspicion of 22q11.2 deletion syndrome.
    Koczkowska M; Wierzba J; Śmigiel R; Sąsiadek M; Cabała M; Ślężak R; Iliszko M; Kardaś I; Limon J; Lipska-Ziętkiewicz BS
    J Appl Genet; 2017 Feb; 58(1):93-98. PubMed ID: 27629806
    [TBL] [Abstract][Full Text] [Related]  

  • 11. CGH and direct diagnosis of mosaic structural chromosomal abnormalities: description of a mosaic ring chromosome 17 and review of the literature.
    Dupont C; Pipiras E; Chantot-Bastaraud S; Verloes A; Baumann C; Wolf JP; Benzacken B
    Eur J Hum Genet; 2003 Jun; 11(6):452-6. PubMed ID: 12774038
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Prenatal diagnosis of an unexpected interstitial 22q11.2 deletion causing truncus arteriosus and thymic hypoplasia in a ring 22 chromosome derived from a maternally inherited paracentric inversion.
    McClarren J; Donnenfeld AE; Ravnan JB
    Prenat Diagn; 2006 Dec; 26(13):1212-5. PubMed ID: 17099929
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Prenatal diagnosis of a karyotypically normal pregnancy in a mother with a supernumerary neocentric 13q21 -->13q22 chromosome and balancing reciprocal deletion.
    Knegt AC; Li S; Engelen JJ; Bijlsma EK; Warburton PE
    Prenat Diagn; 2003 Mar; 23(3):215-20. PubMed ID: 12627422
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Clinical, cytogenetic and molecular study in a case of r(3) with 3p deletion and review of the literature.
    Guilherme RS; Bragagnolo S; Pellegrino R; Christofolini DM; Takeno SS; Carvolheira GM; Kulikowski LD; Melaragno MI
    Cytogenet Genome Res; 2011; 134(4):325-30. PubMed ID: 21849783
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Newborn infant with inherited ring and de novo interstitial deletion on homologous chromosome 22s.
    Wenger SL; Boone LY; Cummins JH; Del Vecchio MA; Bay CA; Hummel M; Mowery-Rushton PA
    Am J Med Genet; 2000 Apr; 91(5):351-4. PubMed ID: 10766997
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Mechanism and genotype-phenotype correlation of two proximal 6q deletions characterized using mBAND, FISH, array CGH, and DNA sequencing.
    Vlckova M; Trkova M; Zemanova Z; Hancarova M; Novotna D; Raskova D; Puchmajerova A; Drabova J; Zmitkova Z; Tan Y; Sedlacek Z
    Cytogenet Genome Res; 2012; 136(1):15-20. PubMed ID: 22156400
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 22q11.2 microduplication in two patients with bladder exstrophy and hearing impairment.
    Lundin J; Söderhäll C; Lundén L; Hammarsjö A; White I; Schoumans J; Läckgren G; Kockum CC; Nordenskjöld A
    Eur J Med Genet; 2010; 53(2):61-5. PubMed ID: 20045748
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Ring chromosome 15: characterization by array CGH.
    Glass IA; Rauen KA; Chen E; Parkes J; Alberston DG; Pinkel D; Cotter PD
    Hum Genet; 2006 Jan; 118(5):611-7. PubMed ID: 16267671
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Molecular cytogenetic characterization of a small, familial supernumerary ring chromosome 7 associated with mental retardation and an abnormal phenotype.
    Tan-Sindhunata G; Castedo S; Leegte B; Mulder I; vd Veen AY; vd Hout AH; Wiersma TJ; van Essen AJ
    Am J Med Genet; 2000 May; 92(2):147-52. PubMed ID: 10797441
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Meiotic origin of two ring chromosomes 18 in a girl with developmental delay.
    Baumer A; Giovannucci Uzielli ML; Guarducci S; Lapi E; Röthlisberger B; Schinzel A
    Am J Med Genet; 2002 Nov; 113(1):101-4. PubMed ID: 12400074
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.