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.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

175 related items for PubMed ID: 17438524

  • 1. Low prevalence of lecithin retinol acyltransferase mutations in patients with Leber congenital amaurosis and autosomal recessive retinitis pigmentosa.
    Sweeney MO, McGee TL, Berson EL, Dryja TP.
    Mol Vis; 2007 Apr 05; 13():588-93. PubMed ID: 17438524
    [Abstract] [Full Text] [Related]

  • 2.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 3. Evaluation of the ELOVL4 gene in patients with autosomal recessive retinitis pigmentosa and Leber congenital amaurosis.
    Rivolta C, Ayyagari R, Sieving PA, Berson EL, Dryja TP.
    Mol Vis; 2003 Feb 18; 9():49-51. PubMed ID: 12592226
    [Abstract] [Full Text] [Related]

  • 4. A novel LRAT mutation affecting splicing in a family with early onset retinitis pigmentosa.
    Chen Y, Huang L, Jiao X, Riazuddin S, Riazuddin SA, Fielding Hetmancik J.
    Hum Genomics; 2018 Jul 04; 12(1):35. PubMed ID: 29973277
    [Abstract] [Full Text] [Related]

  • 5. Novel high-throughput SNP genotyping cosegregation analysis for genetic diagnosis of autosomal recessive retinitis pigmentosa and Leber congenital amaurosis.
    Pomares E, Marfany G, Brión MJ, Carracedo A, Gonzàlez-Duarte R.
    Hum Mutat; 2007 May 04; 28(5):511-6. PubMed ID: 17279538
    [Abstract] [Full Text] [Related]

  • 6. Mutation screen of the TUB gene in patients with retinitis pigmentosa and Leber congenital amaurosis.
    Xi Q, Pauer GJ, Traboulsi EI, Hagstrom SA.
    Exp Eye Res; 2006 Sep 04; 83(3):569-73. PubMed ID: 16643894
    [Abstract] [Full Text] [Related]

  • 7.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 8.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 9. Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis.
    Bowne SJ, Sullivan LS, Mortimer SE, Hedstrom L, Zhu J, Spellicy CJ, Gire AI, Hughbanks-Wheaton D, Birch DG, Lewis RA, Heckenlively JR, Daiger SP.
    Invest Ophthalmol Vis Sci; 2006 Jan 04; 47(1):34-42. PubMed ID: 16384941
    [Abstract] [Full Text] [Related]

  • 10. Genomic organization and mutation analysis of the gene encoding lecithin retinol acyltransferase in human retinal pigment epithelium.
    Ruiz A, Kuehn MH, Andorf JL, Stone E, Hageman GS, Bok D.
    Invest Ophthalmol Vis Sci; 2001 Jan 04; 42(1):31-7. PubMed ID: 11133845
    [Abstract] [Full Text] [Related]

  • 11. Mutation screening of 299 Spanish families with retinal dystrophies by Leber congenital amaurosis genotyping microarray.
    Vallespin E, Cantalapiedra D, Riveiro-Alvarez R, Wilke R, Aguirre-Lamban J, Avila-Fernandez A, Lopez-Martinez MA, Gimenez A, Trujillo-Tiebas MJ, Ramos C, Ayuso C.
    Invest Ophthalmol Vis Sci; 2007 Dec 04; 48(12):5653-61. PubMed ID: 18055816
    [Abstract] [Full Text] [Related]

  • 12. Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays.
    den Hollander AI, Lopez I, Yzer S, Zonneveld MN, Janssen IM, Strom TM, Hehir-Kwa JY, Veltman JA, Arends ML, Meitinger T, Musarella MA, van den Born LI, Fishman GA, Maumenee IH, Rohrschneider K, Cremers FP, Koenekoop RK.
    Invest Ophthalmol Vis Sci; 2007 Dec 04; 48(12):5690-8. PubMed ID: 18055821
    [Abstract] [Full Text] [Related]

  • 13.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 14. Mutation screening of patients with Leber Congenital Amaurosis or the enhanced S-Cone Syndrome reveals a lack of sequence variations in the NRL gene.
    Acar C, Mears AJ, Yashar BM, Maheshwary AS, Andreasson S, Baldi A, Sieving PA, Iannaccone A, Musarella MA, Jacobson SG, Swaroop A.
    Mol Vis; 2003 Jan 24; 9():14-7. PubMed ID: 12552256
    [Abstract] [Full Text] [Related]

  • 15. Dominant Leber congenital amaurosis, cone-rod degeneration, and retinitis pigmentosa caused by mutant versions of the transcription factor CRX.
    Rivolta C, Berson EL, Dryja TP.
    Hum Mutat; 2001 Dec 24; 18(6):488-98. PubMed ID: 11748842
    [Abstract] [Full Text] [Related]

  • 16. Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis.
    Morimura H, Fishman GA, Grover SA, Fulton AB, Berson EL, Dryja TP.
    Proc Natl Acad Sci U S A; 1998 Mar 17; 95(6):3088-93. PubMed ID: 9501220
    [Abstract] [Full Text] [Related]

  • 17. Exome sequencing identifies RDH12 compound heterozygous mutations in a family with severe retinitis pigmentosa.
    Chacon-Camacho OF, Jitskii S, Buentello-Volante B, Quevedo-Martinez J, Zenteno JC.
    Gene; 2013 Oct 10; 528(2):178-82. PubMed ID: 23900199
    [Abstract] [Full Text] [Related]

  • 18. A G1103R mutation in CRB1 is co-inherited with high hyperopia and Leber congenital amaurosis.
    Abouzeid H, Li Y, Maumenee IH, Dharmaraj S, Sundin O.
    Ophthalmic Genet; 2006 Mar 10; 27(1):15-20. PubMed ID: 16543197
    [Abstract] [Full Text] [Related]

  • 19. RPE65 gene: multiplex PCR and mutation screening in patients from India with retinal degenerative diseases.
    Joseph B, Srinivasan A, Soumittra N, Vidhya A, Shetty NS, Uthra S, Kumaramanickavel G.
    J Genet; 2002 Apr 10; 81(1):19-23. PubMed ID: 12357075
    [Abstract] [Full Text] [Related]

  • 20. A homozygosity-based search for mutations in patients with autosomal recessive retinitis pigmentosa, using microsatellite markers.
    Kondo H, Qin M, Mizota A, Kondo M, Hayashi H, Hayashi K, Oshima K, Tahira T, Hayashi K.
    Invest Ophthalmol Vis Sci; 2004 Dec 10; 45(12):4433-9. PubMed ID: 15557452
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 9.