These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

183 related articles for article (PubMed ID: 2951317)

  • 1. Down syndrome with duplication of a region of chromosome 21 containing the CuZn superoxide dismutase gene without detectable karyotypic abnormality.
    Huret JL; Delabar JM; Marlhens F; Aurias A; Nicole A; Berthier M; Tanzer J; Sinet PM
    Hum Genet; 1987 Mar; 75(3):251-7. PubMed ID: 2951317
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. Moderate Down's syndrome in three siblings having partial trisomy 21q22.2 to qter and therefore no SOD-1 excess.
    Habedank M; Rodewald A
    Hum Genet; 1982; 60(1):74-7. PubMed ID: 6210617
    [No Abstract]   [Full Text] [Related]  

  • 7. 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]  

  • 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. Neuronal-specific expression of human copper-zinc superoxide dismutase gene in transgenic mice: animal model of gene dosage effects in Down's syndrome.
    Ceballos-Picot I; Nicole A; Briand P; Grimber G; Delacourte A; Defossez A; Javoy-Agid F; Lafon M; Blouin JL; Sinet PM
    Brain Res; 1991 Jun; 552(2):198-214. PubMed ID: 1717112
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Atypical Down syndrome and partial trisomy 21.
    Jenkins EC; Duncan CJ; Wright CE; Giordano FM; Wilbur L; Wisniewski K; Sklower SL; French JH; Jones C; Brown WT
    Clin Genet; 1983 Aug; 24(2):97-102. PubMed ID: 6225574
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A boy with Down's syndrome having recombinant chromosome 21 but no SOD-1 excess.
    Miyazaki K; Yamanaka T; Ogasawara N
    Clin Genet; 1987 Dec; 32(6):383-7. PubMed ID: 2963715
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Normal superoxide dismutase-1 (SOD-1) activity with deletion of chromosome band 21q21 supports localization of SOD-1 locus to 21q22.
    Wulfsberg EA; Carrel RE; Klisak IJ; O'Brien TJ; Sykes JA; Sparkes RS
    Hum Genet; 1983; 64(3):271-2. PubMed ID: 6885070
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Trisomy 21q223 and Down's phenotype correlation evidenced by in situ hybridization.
    Pellissier MC; Laffage M; Philip N; Passage E; Mattei MG; Mattei JF
    Hum Genet; 1988 Nov; 80(3):277-81. PubMed ID: 2973430
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Overexpression of copper-zinc superoxide dismutase in trisomy 21.
    De La Torre R; Casado A; López-Fernández E; Carrascosa D; Ramírez V; Sáez J
    Experientia; 1996 Sep; 52(9):871-3. PubMed ID: 8841514
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Critical role of the D21S55 region on chromosome 21 in the pathogenesis of Down syndrome.
    Rahmani Z; Blouin JL; Creau-Goldberg N; Watkins PC; Mattei JF; Poissonnier M; Prieur M; Chettouh Z; Nicole A; Aurias A
    Proc Natl Acad Sci U S A; 1989 Aug; 86(15):5958-62. PubMed ID: 2527368
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Increased superoxide dismutase and Down's syndrome.
    Turrens JF
    Med Hypotheses; 2001 Jun; 56(6):617-9. PubMed ID: 11399108
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Human cytoplasmic superoxide dismutase cDNA clone: a probe for studying the molecular biology of Down syndrome.
    Lieman-Hurwitz J; Dafni N; Lavie V; Groner Y
    Proc Natl Acad Sci U S A; 1982 May; 79(9):2808-11. PubMed ID: 6211674
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.