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 *

107 related articles for article (PubMed ID: 10773814)

  • 21. 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]  

  • 22. [A literature review of Norrie disease].
    Ohba N; Isashiki Y
    Nippon Ganka Gakkai Zasshi; 1996 Feb; 100(2):101-10. PubMed ID: 8851148
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Novel mutation at the initiation codon in the Norrie disease gene in two Japanese families.
    Isashiki Y; Ohba N; Yanagita T; Hokita N; Doi N; Nakagawa M; Ozawa M; Kuroda N
    Hum Genet; 1995 Jan; 95(1):105-8. PubMed ID: 7814011
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Cochlear Implants and Psychiatric Assessments: a Norrie Disease Case Report.
    Jacques D; Dubois T; Zdanowicz N; Gilain C; Garin P
    Psychiatr Danub; 2017 Sep; 29(Suppl 3):259-261. PubMed ID: 28953773
    [TBL] [Abstract][Full Text] [Related]  

  • 25. A missense point mutation (Leu13Arg) of the Norrie disease gene in a large Cuban kindred with Norrie disease.
    Fuchs S; Xu SY; Caballero M; Salcedo M; La O A; Wedemann H; Gal A
    Hum Mol Genet; 1994 Apr; 3(4):655-6. PubMed ID: 8069314
    [No Abstract]   [Full Text] [Related]  

  • 26. 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]  

  • 27. Identification of a recurrent missense mutation in the Norrie disease gene associated with a simplex case of exudative vitreoretinopathy.
    Shastry BS
    Biochem Biophys Res Commun; 1998 May; 246(1):35-8. PubMed ID: 9618247
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Clinical and genetic analysis of Indian patients with NDP-related retinopathies.
    Sudha D; Ganapathy A; Mohan P; Mannan AU; Krishna S; Neriyanuri S; Swaminathan M; Rishi P; Chidambaram S; Arunachalam JP
    Int Ophthalmol; 2018 Jun; 38(3):1251-1260. PubMed ID: 28602015
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Characterization and mapping of the mouse NDP (Norrie disease) locus (Ndp).
    Battinelli EM; Boyd Y; Craig IW; Breakefield XO; Chen ZY
    Mamm Genome; 1996 Feb; 7(2):93-7. PubMed ID: 8835523
    [TBL] [Abstract][Full Text] [Related]  

  • 30. NDP gene mutations in 14 French families with Norrie disease.
    Royer G; Hanein S; Raclin V; Gigarel N; Rozet JM; Munnich A; Steffann J; Dufier JL; Kaplan J; Bonnefont JP
    Hum Mutat; 2003 Dec; 22(6):499. PubMed ID: 14635119
    [TBL] [Abstract][Full Text] [Related]  

  • 31. A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness.
    Jin H; May M; Tranebjaerg L; Kendall E; Fontán G; Jackson J; Subramony SH; Arena F; Lubs H; Smith S; Stevenson R; Schwartz C; Vetrie D
    Nat Genet; 1996 Oct; 14(2):177-80. PubMed ID: 8841189
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Epilepsy phenotypes in siblings with Norrie disease.
    Okumura A; Arai E; Kitamura Y; Abe S; Ikeno M; Fujimaki T; Yamamoto T; Shimizu T
    Brain Dev; 2015 Nov; 37(10):978-82. PubMed ID: 25944760
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Isolation and characterization of a candidate gene for Norrie disease.
    Chen ZY; Hendriks RW; Jobling MA; Powell JF; Breakefield XO; Sims KB; Craig IW
    Nat Genet; 1992 Jun; 1(3):204-8. PubMed ID: 1303236
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Identification of A Novel Missense Mutation in The Norrie Disease Gene: The First Molecular Genetic Analysis and Prenatal Diagnosis of Norrie Disease in An Iranian Family.
    Talebi F; Ghanbari Mardasi F; Mohammadi Asl J; Lashgari A; Farhadi F
    Cell J; 2018 Jul; 20(2):290-292. PubMed ID: 29633608
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Bilateral persistent fetal vasculature due to a mutation in the Norrie disease protein gene.
    Payabvash S; Anderson JS; Nascene DR
    Neuroradiol J; 2015 Dec; 28(6):623-7. PubMed ID: 26459204
    [TBL] [Abstract][Full Text] [Related]  

  • 36. 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]  

  • 37. Norrie disease: extraocular clinical manifestations in 56 patients.
    Smith SE; Mullen TE; Graham D; Sims KB; Rehm HL
    Am J Med Genet A; 2012 Aug; 158A(8):1909-17. PubMed ID: 22786811
    [TBL] [Abstract][Full Text] [Related]  

  • 38. A novel Norrie disease pseudoglioma gene mutation, c.-1_2delAAT, responsible for Norrie disease in a Chinese family.
    Zhang XY; Jiang WY; Chen LM; Chen SQ
    Int J Ophthalmol; 2013; 6(6):739-43. PubMed ID: 24392318
    [TBL] [Abstract][Full Text] [Related]  

  • 39. 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]  

  • 40. [Norrie syndrome (author's transl)].
    Schmitz-Valckenberg P; Scholz W
    Klin Monbl Augenheilkd; 1977 Oct; 171(4):562-7. PubMed ID: 412993
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 6.