BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

395 related articles for article (PubMed ID: 25268133)

  • 1. Whole exome analysis identifies frequent CNGA1 mutations in Japanese population with autosomal recessive retinitis pigmentosa.
    Katagiri S; Akahori M; Sergeev Y; Yoshitake K; Ikeo K; Furuno M; Hayashi T; Kondo M; Ueno S; Tsunoda K; Shinoda K; Kuniyoshi K; Tsurusaki Y; Matsumoto N; Tsuneoka H; Iwata T
    PLoS One; 2014; 9(9):e108721. PubMed ID: 25268133
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Whole exome sequencing reveals novel
    Xiao X; Cao Y; Chen S; Chen M; Mai X; Zheng Y; Zhuang X; Ng TK; Chen H
    Mol Vis; 2019; 25():35-46. PubMed ID: 30804660
    [TBL] [Abstract][Full Text] [Related]  

  • 3. The first USH2A mutation analysis of Japanese autosomal recessive retinitis pigmentosa patients: a totally different mutation profile with the lack of frequent mutations found in Caucasian patients.
    Zhao Y; Hosono K; Suto K; Ishigami C; Arai Y; Hikoya A; Hirami Y; Ohtsubo M; Ueno S; Terasaki H; Sato M; Nakanishi H; Endo S; Mizuta K; Mineta H; Kondo M; Takahashi M; Minoshima S; Hotta Y
    J Hum Genet; 2014 Sep; 59(9):521-8. PubMed ID: 25078356
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Whole-exome Sequencing Analysis Identifies Mutations in the EYS Gene in Retinitis Pigmentosa in the Indian Population.
    Di Y; Huang L; Sundaresan P; Li S; Kim R; Ballav Saikia B; Qu C; Zhu X; Zhou Y; Jiang Z; Zhang L; Lin Y; Zhang D; Li Y; Zhang H; Yin Y; Lu F; Zhu X; Yang Z
    Sci Rep; 2016 Jan; 6():19432. PubMed ID: 26787102
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Autosomal recessive retinitis pigmentosa in a Pakistani family mapped to CNGA1 with identification of a novel mutation.
    Zhang Q; Zulfiqar F; Riazuddin SA; Xiao X; Ahmad Z; Riazuddin S; Hejtmancik JF
    Mol Vis; 2004 Nov; 10():884-9. PubMed ID: 15570217
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Impact of whole exome sequencing among Iranian patients with autosomal recessive retinitis pigmentosa.
    Beheshtian M; Saee Rad S; Babanejad M; Mohseni M; Hashemi H; Eshghabadi A; Hajizadeh F; Akbari MR; Kahrizi K; Riazi Esfahani M; Najmabadi H
    Arch Iran Med; 2015 Nov; 18(11):776-85. PubMed ID: 26497376
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Whole-exome sequencing identifies novel compound heterozygous mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa.
    Méndez-Vidal C; González-Del Pozo M; Vela-Boza A; Santoyo-López J; López-Domingo FJ; Vázquez-Marouschek C; Dopazo J; Borrego S; Antiñolo G
    Mol Vis; 2013; 19():2187-95. PubMed ID: 24227914
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Two novel mutations in the EYS gene are possible major causes of autosomal recessive retinitis pigmentosa in the Japanese population.
    Hosono K; Ishigami C; Takahashi M; Park DH; Hirami Y; Nakanishi H; Ueno S; Yokoi T; Hikoya A; Fujita T; Zhao Y; Nishina S; Shin JP; Kim IT; Yamamoto S; Azuma N; Terasaki H; Sato M; Kondo M; Minoshima S; Hotta Y
    PLoS One; 2012; 7(2):e31036. PubMed ID: 22363543
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Whole-exome sequencing reveals a novel frameshift mutation in the FAM161A gene causing autosomal recessive retinitis pigmentosa in the Indian population.
    Zhou Y; Saikia BB; Jiang Z; Zhu X; Liu Y; Huang L; Kim R; Yang Y; Qu C; Hao F; Gong B; Tai Z; Niu L; Yang Z; Sundaresan P; Zhu X
    J Hum Genet; 2015 Oct; 60(10):625-30. PubMed ID: 26246154
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Five major sequence variants and copy number variants in the
    Iwanami M; Oishi A; Ogino K; Seko Y; Nishida-Shimizu T; Yoshimura N; Kato S
    Mol Vis; 2019; 25():766-779. PubMed ID: 31814702
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. High prevalence of mutations in the EYS gene in Japanese patients with autosomal recessive retinitis pigmentosa.
    Iwanami M; Oshikawa M; Nishida T; Nakadomari S; Kato S
    Invest Ophthalmol Vis Sci; 2012 Feb; 53(2):1033-40. PubMed ID: 22302105
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Homozygosity mapping in autosomal recessive retinitis pigmentosa families detects novel mutations.
    Bocquet B; Marzouka NA; Hebrard M; Manes G; Sénéchal A; Meunier I; Hamel CP
    Mol Vis; 2013; 19():2487-500. PubMed ID: 24339724
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Novel compound heterozygous EYS variants may be associated with arRP in a large Chinese pedigree.
    Wei C; Xiao T; Cheng J; Fu J; Zhou Q; Yang L; Lv H; Fu J
    Biosci Rep; 2020 Jun; 40(6):. PubMed ID: 32436957
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Identification of a novel homozygous variant in the CNGA1 gene in a Chinese family with autosomal recessive retinitis pigmentosa.
    Wang L; Zou T; Lin Y; Li L; Zhang P; Gong B; Hao J; Zhang H
    Mol Med Rep; 2020 Sep; 22(3):2516-2520. PubMed ID: 32705276
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A case of retinitis pigmentosa homozygous for a rare CNGA1 causal variant.
    Saito K; Gotoh N; Kang I; Shimada T; Usui T; Terao C
    Sci Rep; 2021 Feb; 11(1):4681. PubMed ID: 33633220
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Whole-exome sequencing identified genes known to be responsible for retinitis pigmentosa in 28 Chinese families.
    Shen C; You B; Chen YN; Li Y; Li W; Wei WB
    Mol Vis; 2022; 28():96-113. PubMed ID: 35814500
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 20.