BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

196 related articles for article (PubMed ID: 7532356)

  • 1. Tetrasomy 21 pter-->q22.1 and Down syndrome: molecular definition of the region.
    Daumer-Haas C; Schuffenhauer S; Walther JU; Schipper RD; Porstmann T; Korenberg JR
    Am J Med Genet; 1994 Dec; 53(4):359-65. PubMed ID: 7532356
    [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. Molecular analysis of chromosome 21 in a patient with a phenotype of Down syndrome and apparently normal karyotype.
    Ahlbom BE; Goetz P; Korenberg JR; Pettersson U; Seemanova E; Wadelius C; Zech L; Annerén G
    Am J Med Genet; 1996 Jun; 63(4):566-72. PubMed ID: 8826436
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Down syndrome--a gene dosage disease caused by trisomy of genes within a small segment of the long arm of chromosome 21, exemplified by the study of effects from the superoxide-dismutase type 1 (SOD-1) gene.
    Annerén G; Edman B
    APMIS Suppl; 1993; 40():71-9. PubMed ID: 8311993
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. 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]  

  • 7. Refining chromosomal region critical for Down syndrome-related heart defects with a case of cryptic 21q22.2 duplication.
    Kosaki R; Kosaki K; Matsushima K; Mitsui N; Matsumoto N; Ohashi H
    Congenit Anom (Kyoto); 2005 Jun; 45(2):62-4. PubMed ID: 15904434
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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]  

  • 10. Isolation of human and murine homologues of the Drosophila minibrain gene: human homologue maps to 21q22.2 in the Down syndrome "critical region".
    Song WJ; Sternberg LR; Kasten-Sportès C; Keuren ML; Chung SH; Slack AC; Miller DE; Glover TW; Chiang PW; Lou L; Kurnit DM
    Genomics; 1996 Dec; 38(3):331-9. PubMed ID: 8975710
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Molecular and cytogenetic characterization of a recurrent unbalanced translocation (4;21)(p16.3;q22.1): relevance to the Wolf-Hirschhorn and Down syndrome critical regions.
    Sebastio G; Perone L; Guzzetta V; Sebastio L; Vicari L; Della Casa R; Gurrieri F; Zappata S; Pomponi MG; Mazzei A; Neri G; Andria G; Brahe C
    Am J Med Genet; 1996 May; 63(2):366-72. PubMed ID: 8725787
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Down syndrome critical region around D21S55 on proximal 21q22.3.
    Rahmani Z; Blouin JL; Créau-Goldberg N; Watkins PC; Mattei JF; Poissonnier M; Prieur M; Chettouh Z; Nicole A; Aurias A
    Am J Med Genet Suppl; 1990; 7():98-103. PubMed ID: 2149984
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 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 of chromosome 6q: an interstitial duplication of the long arm.
    Zneimer SM; Ziel B; Bachman R
    Am J Med Genet; 1998 Nov; 80(2):133-5. PubMed ID: 9805129
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Molecular mapping of twenty-four features of Down syndrome on chromosome 21.
    Delabar JM; Theophile D; Rahmani Z; Chettouh Z; Blouin JL; Prieur M; Noel B; Sinet PM
    Eur J Hum Genet; 1993; 1(2):114-24. PubMed ID: 8055322
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Precise mapping of a de novo duplication 18(q21-->q22) utilizing cytogenetic, biochemical, and molecular techniques.
    Wolff DJ; Schwartz MF; Cohen MM; Schwartz S
    Am J Med Genet; 1993 Jun; 46(5):520-3. PubMed ID: 8322813
    [TBL] [Abstract][Full Text] [Related]  

  • 18. BAC and PAC contigs covering 3.5 Mb of the Down syndrome congenital heart disease region between D21S55 and MX1 on chromosome 21.
    Hubert RS; Mitchell S; Chen XN; Ekmekji K; Gadomski C; Sun Z; Noya D; Kim UJ; Chen C; Shizuya H; Simon M; de Jong PJ; Korenberg JR
    Genomics; 1997 Apr; 41(2):218-26. PubMed ID: 9143497
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Duplication of 7p21.2-->pter due to maternal 7p;21q translocation: implications for critical segment assignment in the 7p duplication syndrome.
    Cai T; Yu P; Tagle DA; Xia J
    Am J Med Genet; 1999 Oct; 86(4):305-11. PubMed ID: 10494083
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Unusual chromosome aberrations in 3 children with Down syndrome.
    Osztovics M; Tóth S; Wilhelm O
    Acta Paediatr Acad Sci Hung; 1982; 23(3):283-9. PubMed ID: 6217717
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.