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 *

97 related articles for article (PubMed ID: 9848314)

  • 21. Dyskeratosis congenita associated with elevated fetal hemoglobin, X-linked ocular albinism, and juvenile-onset diabetes mellitus.
    Reichel M; Grix AC; Isseroff RR
    Pediatr Dermatol; 1992 Jun; 9(2):103-6. PubMed ID: 1376473
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Albinism: an update.
    Orlow SJ
    Semin Cutan Med Surg; 1997 Mar; 16(1):24-9. PubMed ID: 9125762
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Clinical and molecular characterization of a family affected with X-linked ocular albinism (OA1).
    Lam BL; Fingert JH; Shutt BC; Singleton EM; Merin LM; Brown HH; Sheffield VC; Stone EM
    Ophthalmic Genet; 1997 Dec; 18(4):175-84. PubMed ID: 9457748
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Linkage analysis in X-linked ocular albinism.
    Schnur RE; Nussbaum RL; Anson-Cartwright L; McDowell C; Worton RG; Musarella MA
    Genomics; 1991 Apr; 9(4):605-13. PubMed ID: 1674724
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Clinical features of affected males with X linked ocular albinism.
    Charles SJ; Green JS; Grant JW; Yates JR; Moore AT
    Br J Ophthalmol; 1993 Apr; 77(4):222-7. PubMed ID: 8494858
    [TBL] [Abstract][Full Text] [Related]  

  • 26. X-Linked ocular albinism; Nettleship-Falls ocular albinism.
    Booth AV; Soldano AC; Levine J; Pomeranz M
    Dermatol Online J; 2008 May; 14(5):4. PubMed ID: 18627740
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Intragenic TaqI restriction fragment length polymorphism (RFLP) in CICN4, between the loci for X-linked ocular albinism (OA1) and microphthalmia with linear skin defects syndrome (MLS).
    Schnur RE; Wick PA
    Hum Genet; 1995 May; 95(5):594-5. PubMed ID: 7759088
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Multipoint linkage analysis in X-linked ocular albinism of the Nettleship-Falls type.
    Bergen AA; Samanns C; Schuurman EJ; van Osch L; van Dorp DB; Pinckers AJ; Bakker E; Gal A; van Ommen GJ; Bleeker-Wagemakers EM
    Hum Genet; 1991 Dec; 88(2):162-6. PubMed ID: 1684563
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism.
    Lee ST; Nicholls RD; Bundey S; Laxova R; Musarella M; Spritz RA
    N Engl J Med; 1994 Feb; 330(8):529-34. PubMed ID: 8302318
    [TBL] [Abstract][Full Text] [Related]  

  • 30. A submicroscopic deletion in a patient with isolated X-linked ocular albinism (OA1).
    Bassi MT; Bergen AA; Wapenaar MC; Schiaffino MV; van Schooneveld M; Yates JR; Charles SJ; Meitinger T; Ballabio A
    Hum Mol Genet; 1994 Apr; 3(4):647-8. PubMed ID: 8069311
    [No Abstract]   [Full Text] [Related]  

  • 31. Genetic mapping of X-linked ocular albinism: linkage analysis in a large Newfoundland kindred.
    Charles SJ; Green JS; Moore AT; Barton DE; Yates JR
    Genomics; 1993 Apr; 16(1):259-61. PubMed ID: 8486368
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Genetic screening of prospective oocyte donors.
    Wallerstein R; Jansen V; Grifo JA; Berkeley AS; Noyes N; Licker J; Licciardi F
    Fertil Steril; 1998 Jul; 70(1):52-5. PubMed ID: 9660420
    [TBL] [Abstract][Full Text] [Related]  

  • 33. X linked ocular albinism in Japanese patients.
    Shiono T; Tsunoda M; Chida Y; Nakazawa M; Tamai M
    Br J Ophthalmol; 1995 Feb; 79(2):139-43. PubMed ID: 7696233
    [TBL] [Abstract][Full Text] [Related]  

  • 34. A novel splicing site mutation of the GPR143 gene in a Chinese X-linked ocular albinism pedigree.
    Cai CY; Zhu H; Shi W; Su L; Shi O; Cai CQ; Ling C; Li WD
    Genet Mol Res; 2013 Nov; 12(4):5673-9. PubMed ID: 24301936
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Identification of three novel OA1 gene mutations identified in three families misdiagnosed with congenital nystagmus and carrier status determination by real-time quantitative PCR assay.
    Faugère V; Tuffery-Giraud S; Hamel C; Claustres M
    BMC Genet; 2003 Jan; 4():1. PubMed ID: 12515581
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Deletion analysis maps ocular albinism proximal to the steroid sulphatase locus.
    Bouloux PM; Kirk J; Munroe P; Duke V; Meindl A; Hilson A; Grant D; Carter N; Betts D; Meitinger T
    Clin Genet; 1993 Apr; 43(4):169-73. PubMed ID: 8330450
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Fundal findings in a female carrier of X-linked ocular albinism.
    Mansour AM; Greenwald MJ; Jampol LM; Hrisomalos N
    Arch Ophthalmol; 1987 Jun; 105(6):750-1. PubMed ID: 3579700
    [No Abstract]   [Full Text] [Related]  

  • 38. Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism.
    Schiaffino MV; Bassi MT; Galli L; Renieri A; Bruttini M; De Nigris F; Bergen AA; Charles SJ; Yates JR; Meindl A
    Hum Mol Genet; 1995 Dec; 4(12):2319-25. PubMed ID: 8634705
    [TBL] [Abstract][Full Text] [Related]  

  • 39. The genes for X-linked ocular albinism (OA1) and microphthalmia with linear skin defects (MLS): cloning and characterization of the critical regions.
    Wapenaar MC; Bassi MT; Schaefer L; Grillo A; Ferrero GB; Chinault AC; Ballabio A; Zoghbi HY
    Hum Mol Genet; 1993 Jul; 2(7):947-52. PubMed ID: 8364577
    [TBL] [Abstract][Full Text] [Related]  

  • 40. X-linked ocular albinism: prevalence and mutations--a national study.
    Rosenberg T; Schwartz M
    Eur J Hum Genet; 1998; 6(6):570-7. PubMed ID: 9887374
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 5.