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 *

145 related articles for article (PubMed ID: 17156103)

  • 1. A novel genetic study of Chinese families with autosomal recessive retinitis pigmentosa.
    Abd El-Aziz MM; El-Ashry MF; Chan WM; Chong KL; Barragan I; Antiñolo G; Pang CP; Bhattacharya SS
    Ann Hum Genet; 2007 May; 71(Pt 3):281-94. PubMed ID: 17156103
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Linkage validation of RP25 Using the 10K genechip array and further refinement of the locus by new linked families.
    Barragán I; Abd El-Aziz MM; Borrego S; El-Ashry MF; O'Driscoll C; Bhattacharya SS; Antiñolo G
    Ann Hum Genet; 2008 Jul; 72(Pt 4):454-62. PubMed ID: 18510647
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Identification of a novel homozygous nonsense mutation in EYS in a Chinese family with autosomal recessive retinitis pigmentosa.
    Huang Y; Zhang J; Li C; Yang G; Liu M; Wang QK; Tang Z
    BMC Med Genet; 2010 Aug; 11():121. PubMed ID: 20696082
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa.
    Azam M; Khan MI; Gal A; Hussain A; Shah ST; Khan MS; Sadeque A; Bokhari H; Collin RW; Orth U; van Genderen MM; den Hollander AI; Cremers FP; Qamar R
    Mol Vis; 2009 Dec; 15():2526-34. PubMed ID: 19960070
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Homozygosity mapping of autosomal recessive retinitis pigmentosa locus (RP22) on chromosome 16p12.1-p12.3.
    Finckh U; Xu S; Kumaramanickavel G; Schürmann M; Mukkadan JK; Fernandez ST; John S; Weber JL; Denton MJ; Gal A
    Genomics; 1998 Mar; 48(3):341-5. PubMed ID: 9545639
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Association of pathogenic mutations in TULP1 with retinitis pigmentosa in consanguineous Pakistani families.
    Iqbal M; Naeem MA; Riazuddin SA; Ali S; Farooq T; Qazi ZA; Khan SN; Husnain T; Riazuddin S; Sieving PA; Hejtmancik JF; Riazuddin S
    Arch Ophthalmol; 2011 Oct; 129(10):1351-7. PubMed ID: 21987678
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Large-scale molecular analysis of a 34 Mb interval on chromosome 6q: major refinement of the RP25 interval.
    Abd El-Aziz MM; Barragan I; O'Driscoll C; Borrego S; Abu-Safieh L; Pieras JI; El-Ashry MF; Prigmore E; Carter N; Antinolo G; Bhattacharya SS
    Ann Hum Genet; 2008 Jul; 72(Pt 4):463-77. PubMed ID: 18510646
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Genetic analysis of FAM46A in Spanish families with autosomal recessive retinitis pigmentosa: characterisation of novel VNTRs.
    Barragán I; Borrego S; Abd El-Aziz MM; El-Ashry MF; Abu-Safieh L; Bhattacharya SS; Antiñolo G
    Ann Hum Genet; 2008 Jan; 72(Pt 1):26-34. PubMed ID: 17803723
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Seven novel mutations in the long isoform of the USH2A gene in Chinese families with nonsyndromic retinitis pigmentosa and Usher syndrome Type II.
    Xu W; Dai H; Lu T; Zhang X; Dong B; Li Y
    Mol Vis; 2011; 17():1537-52. PubMed ID: 21686329
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Application of a high-throughput genotyping method for loci exclusion in non-consanguineous Australian pedigrees with autosomal recessive retinitis pigmentosa.
    Paterson RL; De Roach JN; McLaren TL; Hewitt AW; Hoffmann L; Lamey TM
    Mol Vis; 2012; 18():2043-52. PubMed ID: 22876132
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Pathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases.
    Ullah I; Kabir F; Iqbal M; Gottsch CB; Naeem MA; Assir MZ; Khan SN; Akram J; Riazuddin S; Ayyagari R; Hejtmancik JF; Riazuddin SA
    Mol Vis; 2016; 22():797-815. PubMed ID: 27440997
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Mutation of CERKL, a novel human ceramide kinase gene, causes autosomal recessive retinitis pigmentosa (RP26).
    Tuson M; Marfany G; Gonzàlez-Duarte R
    Am J Hum Genet; 2004 Jan; 74(1):128-38. PubMed ID: 14681825
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Autosomal recessive retinitis pigmentosa locus RP28 maps between D2S1337 and D2S286 on chromosome 2p11-p15 in an Indian family.
    Gu S; Kumaramanickavel G; Srikumari CR; Denton MJ; Gal A
    J Med Genet; 1999 Sep; 36(9):705-7. PubMed ID: 10507729
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Homozygosity Mapping in Leber Congenital Amaurosis and Autosomal Recessive Retinitis Pigmentosa in South Indian Families.
    Srilekha S; Arokiasamy T; Srikrupa NN; Umashankar V; Meenakshi S; Sen P; Kapur S; Soumittra N
    PLoS One; 2015; 10(7):e0131679. PubMed ID: 26147992
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A new autosomal recessive retinitis pigmentosa locus maps on chromosome 2q31-q33.
    Bayés M; Goldaracena B; Martínez-Mir A; Iragui-Madoz MI; Solans T; Chivelet P; Bussaglia E; Ramos-Arroyo MA; Baiget M; Vilageliu L; Balcells S; Gonzàlez-Duarte R; Grinberg D
    J Med Genet; 1998 Feb; 35(2):141-5. PubMed ID: 9507394
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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; 45(12):4433-9. PubMed ID: 15557452
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Molecular analysis of RIM1 in autosomal recessive Retinitis pigmentosa.
    Barragan I; Marcos I; Borrego S; Antiñolo G
    Ophthalmic Res; 2005; 37(2):89-93. PubMed ID: 15746564
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mapping.
    Siemiatkowska AM; Arimadyo K; Moruz LM; Astuti GD; de Castro-Miro M; Zonneveld MN; Strom TM; de Wijs IJ; Hoefsloot LH; Faradz SM; Cremers FP; den Hollander AI; Collin RW
    Mol Vis; 2011; 17():3013-24. PubMed ID: 22128245
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Molecular genetic analysis of two functional candidate genes in the autosomal recessive retinitis pigmentosa, RP25, locus.
    Abd El-Aziz MM; El-Ashry MF; Barragan I; Marcos I; Borrego S; Antiñolo G; Bhattacharya SS
    Curr Eye Res; 2005 Dec; 30(12):1081-7. PubMed ID: 16354621
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Genetic analysis of Indian families with autosomal recessive retinitis pigmentosa by homozygosity screening.
    Singh HP; Jalali S; Narayanan R; Kannabiran C
    Invest Ophthalmol Vis Sci; 2009 Sep; 50(9):4065-71. PubMed ID: 19339744
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.