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 *

103 related articles for article (PubMed ID: 8069314)

  • 21. Norrie disease as part of a complex syndrome explained by a submicroscopic deletion of the X chromosome.
    Bleeker-Wagemakers EM; Zweije-Hofman I; Gal A
    Ophthalmic Paediatr Genet; 1988 Nov; 9(3):137-42. PubMed ID: 3231429
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Two new missense mutations (A105T and C110G) in the norrin gene in two Italian families with Norrie disease and familial exudative vitreoretinopathy.
    Torrente I; Mangino M; Gennarelli M; Novelli G; Giannotti A; Vadalà P; Dallapiccola B
    Am J Med Genet; 1997 Oct; 72(2):242-4. PubMed ID: 9382152
    [No Abstract]   [Full Text] [Related]  

  • 23. 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]  

  • 24. Mutations in the Norrie disease gene: a new mutation in a Japanese family.
    Isashiki Y; Ohba N; Yanagita T; Hokita N; Hotta Y; Hayakawa M; Fujiki K; Tanabe U
    Br J Ophthalmol; 1995 Jul; 79(7):703-4. PubMed ID: 7662640
    [No Abstract]   [Full Text] [Related]  

  • 25. Molecular modelling of the Norrie disease protein predicts a cystine knot growth factor tertiary structure.
    Meitinger T; Meindl A; Bork P; Rost B; Sander C; Haasemann M; Murken J
    Nat Genet; 1993 Dec; 5(4):376-80. PubMed ID: 8298646
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Norrie's disease: close linkage with genetic markers from the proximal short arm of the X chromosome.
    Gal A; Stolzenberger C; Wienker T; Wieacker P; Ropers HH; Friedrich U; Bleeker-Wagemakers L; Pearson P; Warburg M
    Clin Genet; 1985 Mar; 27(3):282-3. PubMed ID: 3857130
    [No Abstract]   [Full Text] [Related]  

  • 27. Norrie disease caused by a gene deletion allowing carrier detection and prenatal diagnosis.
    de la Chapelle A; Sankila EM; Lindlöf M; Aula P; Norio R
    Clin Genet; 1985 Oct; 28(4):317-20. PubMed ID: 2998655
    [TBL] [Abstract][Full Text] [Related]  

  • 28. A novel mutation in the Norrie disease gene predicted to disrupt the cystine knot growth factor motif.
    Strasberg P; Liede HA; Stein T; Warren I; Sutherland J; Ray PN
    Hum Mol Genet; 1995 Nov; 4(11):2179-80. PubMed ID: 8589700
    [No Abstract]   [Full Text] [Related]  

  • 29. A novel mutation in the Norrie disease gene.
    Ott S; Patel RJ; Appukuttan B; Wang X; Stout JT
    J AAPOS; 2000 Apr; 4(2):125-6. PubMed ID: 10773814
    [TBL] [Abstract][Full Text] [Related]  

  • 30. X-linked hydrocephalus and MASA syndrome present in one family are due to a single missense mutation in exon 28 of the L1CAM gene.
    Fransen E; Schrander-Stumpel C; Vits L; Coucke P; Van Camp G; Willems PJ
    Hum Mol Genet; 1994 Dec; 3(12):2255-6. PubMed ID: 7881431
    [No Abstract]   [Full Text] [Related]  

  • 31. X-linked exudative vitreoretinopathy caused by an arginine to leucine substitution (R121L) in the Norrie disease protein.
    Johnson K; Mintz-Hittner HA; Conley YP; Ferrell RE
    Clin Genet; 1996 Sep; 50(3):113-5. PubMed ID: 8946107
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Mutations in the Norrie disease gene.
    Schuback DE; Chen ZY; Craig IW; Breakefield XO; Sims KB
    Hum Mutat; 1995; 5(4):285-92. PubMed ID: 7627181
    [TBL] [Abstract][Full Text] [Related]  

  • 33. A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22.
    Tranebjaerg L; Schwartz C; Eriksen H; Andreasson S; Ponjavic V; Dahl A; Stevenson RE; May M; Arena F; Barker D
    J Med Genet; 1995 Apr; 32(4):257-63. PubMed ID: 7643352
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD).
    Fuchs S; Sarde CO; Wedemann H; Schwinger E; Mandel JL; Gal A
    Hum Mol Genet; 1994 Oct; 3(10):1903-5. PubMed ID: 7849723
    [No Abstract]   [Full Text] [Related]  

  • 35. Norrie disease. Diagnosis of a simplex case by DNA analysis.
    Chynn EW; Walton DS; Hahn LB; Dryja TP
    Arch Ophthalmol; 1996 Sep; 114(9):1136-8. PubMed ID: 8790105
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4.
    de Kok YJ; van der Maarel SM; Bitner-Glindzicz M; Huber I; Monaco AP; Malcolm S; Pembrey ME; Ropers HH; Cremers FP
    Science; 1995 Feb; 267(5198):685-8. PubMed ID: 7839145
    [TBL] [Abstract][Full Text] [Related]  

  • 37. 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]  

  • 38. A silent mutation, C924T (G308G), in the L1CAM gene results in X linked hydrocephalus (HSAS).
    Du YZ; Dickerson C; Aylsworth AS; Schwartz CE
    J Med Genet; 1998 Jun; 35(6):456-62. PubMed ID: 9643285
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Localisation of the gene for Norrie disease to between DXS7 and DXS426 on Xp.
    Lindsay S; Thiselton DL; Bateman JB; Ngo JT; Sparkes RS; Coleman M; Davies KE; Bhattacharya SS
    Hum Genet; 1992 Jan; 88(3):349-50. PubMed ID: 1733838
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Study of the Norrie disease gene in 2 patients with bilateral persistent hyperplastic primary vitreous.
    Pendergast SD; Trese MT; Liu X; Shastry BS
    Arch Ophthalmol; 1998 Mar; 116(3):381-2. PubMed ID: 9514496
    [No Abstract]   [Full Text] [Related]  

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