BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

1357 related articles for article (PubMed ID: 24938718)

  • 1. Mutations of 60 known causative genes in 157 families with retinitis pigmentosa based on exome sequencing.
    Xu Y; Guan L; Shen T; Zhang J; Xiao X; Jiang H; Li S; Yang J; Jia X; Yin Y; Guo X; Wang J; Zhang Q
    Hum Genet; 2014 Oct; 133(10):1255-71. PubMed ID: 24938718
    [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. Mutation analysis in 129 genes associated with other forms of retinal dystrophy in 157 families with retinitis pigmentosa based on exome sequencing.
    Xu Y; Guan L; Xiao X; Zhang J; Li S; Jiang H; Jia X; Yang J; Guo X; Yin Y; Wang J; Zhang Q
    Mol Vis; 2015; 21():477-86. PubMed ID: 25999675
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Mutation screening in genes known to be responsible for Retinitis Pigmentosa in 98 Small Han Chinese Families.
    Huang L; Zhang Q; Huang X; Qu C; Ma S; Mao Y; Yang J; Li Y; Li Y; Tan C; Zhao P; Yang Z
    Sci Rep; 2017 May; 7(1):1948. PubMed ID: 28512305
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Identification of two novel RHO mutations in Chinese retinitis pigmentosa patients.
    Wang J; Xu D; Zhu T; Zhou Y; Chen X; Wang F; Zhang J; Tian H; Gao F; Zhang J; Jin C; Xu J; Lu L; Liu Q; Xu GT
    Exp Eye Res; 2019 Nov; 188():107726. PubMed ID: 31319082
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 8. Application of targeted panel sequencing and whole exome sequencing for 76 Chinese families with retinitis pigmentosa.
    Dan H; Huang X; Xing Y; Shen Y
    Mol Genet Genomic Med; 2020 Mar; 8(3):e1131. PubMed ID: 31960602
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Identification of CRB1 mutations in two Chinese consanguineous families exhibiting autosomal recessive retinitis pigmentosa.
    Guo X; Li J; Wang Q; Shu Y; Wang J; Chen L; Zhang H; Shi Y; Yang J; Lu F; Jiang L; Qu C; Gong B
    Mol Med Rep; 2019 Sep; 20(3):2922-2928. PubMed ID: 31322236
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Identification of novel USH2A mutations in patients with autosomal recessive retinitis pigmentosa via targeted next‑generation sequencing.
    Zhu X; Li X; Tian W; Yang Y; Sun K; Li S; Zhu X
    Mol Med Rep; 2020 Jul; 22(1):193-200. PubMed ID: 32319668
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Comprehensive mutation analysis by whole-exome sequencing in 41 Chinese families with Leber congenital amaurosis.
    Chen Y; Zhang Q; Shen T; Xiao X; Li S; Guan L; Zhang J; Zhu Z; Yin Y; Wang P; Guo X; Wang J; Zhang Q
    Invest Ophthalmol Vis Sci; 2013 Jun; 54(6):4351-7. PubMed ID: 23661368
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Mutations in AGBL5, Encoding α-Tubulin Deglutamylase, Are Associated With Autosomal Recessive Retinitis Pigmentosa.
    Astuti GD; Arno G; Hull S; Pierrache L; Venselaar H; Carss K; Raymond FL; Collin RW; Faradz SM; van den Born LI; Webster AR; Cremers FP
    Invest Ophthalmol Vis Sci; 2016 Nov; 57(14):6180-6187. PubMed ID: 27842159
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Variants in
    Yang J; Xiao X; Sun W; Li S; Jia X; Zhang Q
    Curr Eye Res; 2021 Jun; 46(6):839-844. PubMed ID: 33104391
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Whole-exome sequencing identifies a novel homozygous frameshift mutation in the PROM1 gene as a causative mutation in two patients with sporadic retinitis pigmentosa.
    Liu S; Xie L; Yue J; Ma T; Peng C; Qiu B; Yang Z; Yang J
    Int J Mol Med; 2016 Jun; 37(6):1528-34. PubMed ID: 27082927
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned.
    Almoguera B; Li J; Fernandez-San Jose P; Liu Y; March M; Pellegrino R; Golhar R; Corton M; Blanco-Kelly F; López-Molina MI; García-Sandoval B; Guo Y; Tian L; Liu X; Guan L; Zhang J; Keating B; Xu X; Hakonarson H; Ayuso C
    PLoS One; 2015; 10(7):e0133624. PubMed ID: 26197217
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Two novel mutations in PRPF3 causing autosomal dominant retinitis pigmentosa.
    Zhong Z; Yan M; Sun W; Wu Z; Han L; Zhou Z; Zheng F; Chen J
    Sci Rep; 2016 Nov; 6():37840. PubMed ID: 27886254
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Identification of a novel homozygous nonsense mutation in the CDHR1 gene in a Chinese family with autosomal recessive retinitis pigmentosa.
    Gan L; Yang C; Shu Y; Liu F; Sun R; Deng B; Xu J; Huang G; Qu C; Gong B; Li J
    Clin Chim Acta; 2020 Aug; 507():17-22. PubMed ID: 32277948
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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; 528(2):178-82. PubMed ID: 23900199
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Genetic and clinical analysis in Chinese patients with retinitis pigmentosa caused by EYS mutations.
    Sun Y; Li JK; He W; Wang ZS; Bai JY; Xu L; Xing B; Zhang JG; Wang L; Li W; Chen F
    Mol Genet Genomic Med; 2020 Mar; 8(3):e1117. PubMed ID: 31944634
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 68.