BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

149 related articles for article (PubMed ID: 2149936)

  • 1. Clinical, cytogenetic, and molecular evaluation of a patient with partial trisomy 21 (21q11-q22) lacking the classical Down syndrome phenotype.
    Williams CA; Frias JL; McCormick MK; Antonarakis SE; Cantu ES
    Am J Med Genet Suppl; 1990; 7():110-4. PubMed ID: 2149936
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Maternal balanced translocation (4;21) leading to an offspring with partial duplication of 4q and 21q without phenotypic manifestations of Down syndrome.
    El-Ruby M; Hemly NA; Zaki MS
    Genet Couns; 2007; 18(2):217-26. PubMed ID: 17710874
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Clinical, cytogenetic, and molecular characterization of a girl with some clinical features of Down syndrome resulting from a pure partial trisomy 21q22.11-qter due to a de novo intrachromosomal duplication.
    Vaglio A; Milunsky A; Quadrelli A; Huang XL; Maher T; Mechoso B; Martínez S; Pagano S; Bellini S; Costabel M; Quadrelli R
    Genet Test Mol Biomarkers; 2010 Feb; 14(1):57-65. PubMed ID: 20143912
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Prenatal diagnosis of partial monosomy 18p(18p11.2-->pter) and trisomy 21q(21q22.3-->qter) with alobar holoprosencephaly and premaxillary agenesis.
    Chen CP; Chern SR; Wang W; Lee CC; Chen WL; Chen LF; Chang TY; Tzen CY
    Prenat Diagn; 2001 May; 21(5):346-50. PubMed ID: 11360273
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Clinical, cytogenetic, and molecular genetic characterization of two unrelated patients with different duplications of 21q.
    Petersen MB; Tranebjaerg L; McCormick MK; Michelsen N; Mikkelsen M; Antonarakis SE
    Am J Med Genet Suppl; 1990; 7():104-9. PubMed ID: 2149934
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Molecular genetic approach to the characterization of the "Down syndrome region" of chromosome 21.
    McCormick MK; Schinzel A; Petersen MB; Stetten G; Driscoll DJ; Cantu ES; Tranebjaerg L; Mikkelsen M; Watkins PC; Antonarakis SE
    Genomics; 1989 Aug; 5(2):325-31. PubMed ID: 2529205
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A de novo duplication of chromosome 21q22.11→qter associated with Down syndrome: prenatal diagnosis, molecular cytogenetic characterization and fetal ultrasound findings.
    Chen CP; Huang HK; Ling PY; Su YN; Chen M; Tsai FJ; Wu PC; Chern SR; Chen YT; Lee CC; Wang W
    Taiwan J Obstet Gynecol; 2011 Dec; 50(4):492-8. PubMed ID: 22212323
    [TBL] [Abstract][Full Text] [Related]  

  • 8. No significant effect of monosomy for distal 21q22.3 on the Down syndrome phenotype in "mirror" duplications of chromosome 21.
    Pangalos C; Théophile D; Sinet PM; Marks A; Stamboulieh-Abazis D; Chettouh Z; Prieur M; Verellen C; Rethoré MO; Lejeune J
    Am J Hum Genet; 1992 Dec; 51(6):1240-50. PubMed ID: 1463008
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Down syndrome: toward a molecular definition of the phenotype.
    Korenberg JR; Kawashima H; Pulst SM; Allen L; Magenis E; Epstein CJ
    Am J Med Genet Suppl; 1990; 7():91-7. PubMed ID: 2149983
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Molecular definition of a region of chromosome 21 that causes features of the Down syndrome phenotype.
    Korenberg JR; Kawashima H; Pulst SM; Ikeuchi T; Ogasawara N; Yamamoto K; Schonberg SA; West R; Allen L; Magenis E
    Am J Hum Genet; 1990 Aug; 47(2):236-46. PubMed ID: 2143053
    [TBL] [Abstract][Full Text] [Related]  

  • 11. YAC and cosmid FISH mapping of an unbalanced chromosomal translocation causing partial trisomy 21 and Down syndrome.
    Nadal M; Milà M; Pritchard M; Mur A; Pujals J; Blouin JL; Antonarakis SE; Ballesta F; Estivill X
    Hum Genet; 1996 Oct; 98(4):460-6. PubMed ID: 8792823
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Down syndrome consequent to a cryptic maternal 12p;21q chromosome translocation.
    Scott JA; Wenger SL; Steele MW; Chakravarti A
    Am J Med Genet; 1995 Mar; 56(1):67-71. PubMed ID: 7747789
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Partial trisomy and tetrasomy of chromosome 21 without Down Syndrome phenotype and short overview of genotype-phenotype correlation. A case report.
    Capkova P; Misovicova N; Vrbicka D
    Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub; 2014 Jun; 158(2):321-5. PubMed ID: 24145769
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Partial trisomy and monosomy 21 in an infant with an unusual de novo 21/21 translocation.
    Cantu JM; Hernandez A; Plascencia L; Vaca G; Moller M; Rivera H
    Ann Genet; 1980; 23(3):183-6. PubMed ID: 6448566
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Hypoplastic left heart in a female infant with partial trisomy 4q due to de novo 4;21 translocation.
    Velinov M; Gu H; Yeboa K; Warburton D; Tubo T; Dhuper S; Lanter S; Delprino D; Kupchik G; Jenkins EC
    Am J Med Genet; 2002 Feb; 107(4):330-3. PubMed ID: 11840491
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Prenatal diagnosis of a fetus affected with Down syndrome and deletion 1p36 syndrome by fluorescence in situ hybridization and spectral karyotyping.
    Hsieh LJ; Hsieh TC; Yeh GP; Lin MI; Chen M; Wang BB
    Fetal Diagn Ther; 2004; 19(4):356-60. PubMed ID: 15192296
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Submicroscopic duplication of chromosome 21 and trisomy 21 phenotype (Down syndrome).
    Delabar JM; Sinet PM; Chadefaux B; Nicole A; Gegonne A; Stehelin D; Fridlansky F; Créau-Goldberg N; Turleau C; de Grouchy J
    Hum Genet; 1987 Jul; 76(3):225-9. PubMed ID: 3036686
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Analysis of DNA polymorphisms suggests that most de novo dup(21q) chromosomes in patients with Down syndrome are isochromosomes and not translocations.
    Antonarakis SE; Adelsberger PA; Petersen MB; Binkert F; Schinzel AA
    Am J Hum Genet; 1990 Dec; 47(6):968-72. PubMed ID: 1978562
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A patient with partial trisomy 21 and 7q deletion expresses mild Down syndrome phenotype.
    Papoulidis I; Papageorgiou E; Siomou E; Oikonomidou E; Thomaidis L; Vetro A; Zuffardi O; Liehr T; Manolakos E; Vassilis P
    Gene; 2014 Feb; 536(2):441-3. PubMed ID: 24334122
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.