BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

120 related articles for article (PubMed ID: 1308352)

  • 1. Clinical, biochemical, and neuropsychiatric evaluation of a patient with a contiguous gene syndrome due to a microdeletion Xp11.3 including the Norrie disease locus and monoamine oxidase (MAOA and MAOB) genes.
    Collins FA; Murphy DL; Reiss AL; Sims KB; Lewis JG; Freund L; Karoum F; Zhu D; Maumenee IH; Antonarakis SE
    Am J Med Genet; 1992 Jan; 42(1):127-34. PubMed ID: 1308352
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Abnormal protein in the cerebrospinal fluid of patients with a submicroscopic X-chromosomal deletion associated with Norrie disease: preliminary report.
    Joy JE; Poglod R; Murphy DL; Sims KB; de la Chapelle A; Sankila EM; Norio R; Merril CR
    Appl Theor Electrophor; 1991; 2(1):3-5. PubMed ID: 1932207
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Specific genetic deficiencies of the A and B isoenzymes of monoamine oxidase are characterized by distinct neurochemical and clinical phenotypes.
    Lenders JW; Eisenhofer G; Abeling NG; Berger W; Murphy DL; Konings CH; Wagemakers LM; Kopin IJ; Karoum F; van Gennip AH; Brunner HG
    J Clin Invest; 1996 Feb; 97(4):1010-9. PubMed ID: 8613523
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Sequence analysis and transcript identification within 1.5 MB of DNA deleted together with the NDP and MAO genes in atypical Norrie disease patients presenting with a profound phenotype.
    Suárez-Merino B; Bye J; McDowall J; Ross M; Craig IW
    Hum Mutat; 2001 Jun; 17(6):523. PubMed ID: 11385715
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Isolation of a candidate gene for Norrie disease by positional cloning.
    Berger W; Meindl A; van de Pol TJ; Cremers FP; Ropers HH; Döerner C; Monaco A; Bergen AA; Lebo R; Warburg M
    Nat Genet; 1992 Jun; 1(3):199-203. PubMed ID: 1303235
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A novel contiguous deletion involving NDP, MAOB and EFHC2 gene in a patient with familial Norrie disease: bilateral blindness and leucocoria without other deficits.
    Jia B; Huang L; Chen Y; Liu S; Chen C; Xiong K; Song L; Zhou Y; Yang X; Zhong M
    J Genet; 2017 Dec; 96(6):1015-1020. PubMed ID: 29321361
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Norrie disease and MAO genes: nearest neighbors.
    Chen ZY; Denney RM; Breakefield XO
    Hum Mol Genet; 1995; 4 Spec No():1729-37. PubMed ID: 8541872
    [TBL] [Abstract][Full Text] [Related]  

  • 8. The Norrie disease gene maps to a 150 kb region on chromosome Xp11.3.
    Sims KB; Lebo RV; Benson G; Shalish C; Schuback D; Chen ZY; Bruns G; Craig IW; Golbus MS; Breakefield XO
    Hum Mol Genet; 1992 May; 1(2):83-9. PubMed ID: 1301161
    [TBL] [Abstract][Full Text] [Related]  

  • 9. The importance of biochemical and genetic findings in the diagnosis of atypical Norrie disease.
    Rodríguez-Muñoz A; García-García G; Menor F; Millán JM; Tomás-Vila M; Jaijo T
    Clin Chem Lab Med; 2018 Jan; 56(2):229-235. PubMed ID: 28742514
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Plasma amine oxidase activities in Norrie disease patients with an X-chromosomal deletion affecting monoamine oxidase.
    Murphy DL; Sims KB; Karoum F; Garrick NA; de la Chapelle A; Sankila EM; Norio R; Breakefield XO
    J Neural Transm Gen Sect; 1991; 83(1-2):1-12. PubMed ID: 2018626
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Marked amine and amine metabolite changes in Norrie disease patients with an X-chromosomal deletion affecting monoamine oxidase.
    Murphy DL; Sims KB; Karoum F; de la Chapelle A; Norio R; Sankila EM; Breakefield XO
    J Neurochem; 1990 Jan; 54(1):242-7. PubMed ID: 2293615
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Contiguous deletion of the NDP, MAOA, MAOB, and EFHC2 genes in a patient with Norrie disease, severe psychomotor retardation and myoclonic epilepsy.
    Rodriguez-Revenga L; Madrigal I; Alkhalidi LS; Armengol L; González E; Badenas C; Estivill X; Milà M
    Am J Med Genet A; 2007 May; 143A(9):916-20. PubMed ID: 17431911
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Norrie disease gene mutation in a large Costa Rican kindred with a novel phenotype including venous insufficiency.
    Rehm HL; Gutiérrez-Espeleta GA; Garcia R; Jiménez G; Khetarpal U; Priest JM; Sims KB; Keats BJ; Morton CC
    Hum Mutat; 1997; 9(5):402-8. PubMed ID: 9143918
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Inversion (X)(p11.4q22) associated with Norrie disease in a four generation family.
    Pettenati MJ; Rao PN; Weaver RG; Thomas IT; McMahan MR
    Am J Med Genet; 1993 Mar; 45(5):577-80. PubMed ID: 8456827
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Monoamine oxidase deficiency in males with an X chromosome deletion.
    Sims KB; de la Chapelle A; Norio R; Sankila EM; Hsu YP; Rinehart WB; Corey TJ; Ozelius L; Powell JF; Bruns G
    Neuron; 1989 Jan; 2(1):1069-76. PubMed ID: 2483108
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Submicroscopic interstitial deletion of the X chromosome explains a complex genetic syndrome dominated by Norrie disease.
    Gal A; Wieringa B; Smeets DF; Bleeker-Wagemakers L; Ropers HH
    Cytogenet Cell Genet; 1986; 42(4):219-24. PubMed ID: 3502689
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mental retardation locus in Xp21 chromosome microdeletion.
    Fries MH; Lebo RV; Schonberg SA; Golabi M; Seltzer WK; Gitelman SE; Golbus MS
    Am J Med Genet; 1993 Jun; 46(4):363-8. PubMed ID: 8357005
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Hereditary variations in monoamine oxidase as a risk factor for Parkinson's disease.
    Hotamisligil GS; Girmen AS; Fink JS; Tivol E; Shalish C; Trofatter J; Baenziger J; Diamond S; Markham C; Sullivan J
    Mov Disord; 1994 May; 9(3):305-10. PubMed ID: 7913737
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Deletion of MAOA and MAOB in a male patient causes severe developmental delay, intermittent hypotonia and stereotypical hand movements.
    Whibley A; Urquhart J; Dore J; Willatt L; Parkin G; Gaunt L; Black G; Donnai D; Raymond FL
    Eur J Hum Genet; 2010 Oct; 18(10):1095-9. PubMed ID: 20485326
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Microdeletion in the X-chromosome and prenatal diagnosis in a family with Norrie disease.
    Zhu DP; Antonarakis SE; Schmeckpeper BJ; Diergaarde PJ; Greb AE; Maumenee IH
    Am J Med Genet; 1989 Aug; 33(4):485-8. PubMed ID: 2596510
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.