BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

132 related articles for article (PubMed ID: 37643966)

  • 1. [Analysis of a patient with early-onset retinitis pigmentosa due to novel variants of CRB1 gene].
    Yi M; Tao D; Yang Y; Liu Y
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Sep; 40(9):1160-1164. PubMed ID: 37643966
    [TBL] [Abstract][Full Text] [Related]  

  • 2. [Analysis of a patient with Retinitis pigmentosa due to a novel variant of IMPDH1 gene].
    Yang R; Hui L; Zhang C; Zhang Q; Wang Y; Hao S
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Apr; 41(4):456-460. PubMed ID: 38565512
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A novel homozygous R764H mutation in crumbs homolog 1 causes autosomal recessive retinitis pigmentosa.
    Tiab L; Largueche L; Chouchane I; Derouiche K; Munier FL; El Matri L; Schorderet DF
    Mol Vis; 2013; 19():829-34. PubMed ID: 23592920
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [Analysis of C2ORF71 gene variant in a Chinese patient with retinitis pigmentosa].
    Liu M; Lu Y; Ma Y
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Jan; 39(1):52-55. PubMed ID: 34964967
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. Clinical and genetic investigations of three Moroccan families with retinitis pigmentosa phenotypes.
    Bouzidi A; Charif M; Bouzidi A; Amalou G; Kandil M; Barakat A; Lenaers G
    Mol Vis; 2021; 27():17-25. PubMed ID: 33633436
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa.
    Booij JC; Florijn RJ; ten Brink JB; Loves W; Meire F; van Schooneveld MJ; de Jong PT; Bergen AA
    J Med Genet; 2005 Nov; 42(11):e67. PubMed ID: 16272259
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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]  

  • 10. Novel mutations of CRB1 in Chinese families presenting with retinal dystrophies.
    Yang L; Wu L; Yin X; Chen N; Li G; Ma Z
    Mol Vis; 2014; 20():359-67. PubMed ID: 24715753
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Envisioning the development of a CRISPR-Cas mediated base editing strategy for a patient with a novel pathogenic
    Bellingrath JS; McClements ME; Shanks M; Clouston P; Fischer MD; MacLaren RE
    Ophthalmic Genet; 2022 Oct; 43(5):661-670. PubMed ID: 35538629
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Phenotypic features of CRB1-associated early-onset severe retinal dystrophy and the different molecular approaches to identifying the disease-causing variants.
    Kousal B; Dudakova L; Gaillyova R; Hejtmankova M; Diblik P; Michaelides M; Liskova P
    Graefes Arch Clin Exp Ophthalmol; 2016 Sep; 254(9):1833-9. PubMed ID: 27113771
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Detection of CRB1 mutations in families with retinal dystrophy through phenotype-oriented mutational screening.
    Li S; Shen T; Xiao X; Guo X; Zhang Q
    Int J Mol Med; 2014 Apr; 33(4):913-8. PubMed ID: 24535598
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Homozygosity mapping identifies the Crumbs homologue 1 (Crb1) gene as responsible for a recessive syndrome of retinitis pigmentosa and nanophthalmos.
    Zenteno JC; Buentello-Volante B; Ayala-Ramirez R; Villanueva-Mendoza C
    Am J Med Genet A; 2011 May; 155A(5):1001-6. PubMed ID: 21484995
    [TBL] [Abstract][Full Text] [Related]  

  • 15. In Silico Analysis of Pathogenic
    Bellingrath JS; McClements ME; Kaukonen M; Fischer MD; MacLaren RE
    Genes (Basel); 2021 Nov; 12(12):. PubMed ID: 34946856
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [Analysis of genetic variants in a patient with Familial hemophagocytic lymphohistiocytosis].
    Zhang Z; Yu X; Wang Z
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Mar; 40(3):282-286. PubMed ID: 36854401
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Molecular analysis of ABCA4 and CRB1 genes in a Spanish family segregating both Stargardt disease and autosomal recessive retinitis pigmentosa.
    Riveiro-Alvarez R; Vallespin E; Wilke R; Garcia-Sandoval B; Cantalapiedra D; Aguirre-Lamban J; Avila-Fernandez A; Gimenez A; Trujillo-Tiebas MJ; Ayuso C
    Mol Vis; 2008 Feb; 14():262-7. PubMed ID: 18334942
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Novel homozygous loss-of-function mutations in
    Albarry MA; Hashmi JA; Alreheli AQ; Albalawi AM; Khan B; Ramzan K; Basit S
    Ophthalmic Genet; 2019 Dec; 40(6):507-513. PubMed ID: 31833436
    [No Abstract]   [Full Text] [Related]  

  • 19. 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]  

  • 20. LONG-TERM FOLLOW-UP OF PATIENTS WITH RETINITIS PIGMENTOSA TYPE 12 CAUSED BY CRB1 MUTATIONS: A Severe Phenotype With Considerable Interindividual Variability.
    Mathijssen IB; Florijn RJ; van den Born LI; Zekveld-Vroon RC; Ten Brink JB; Plomp AS; Baas F; Meijers-Heijboer H; Bergen AA; van Schooneveld MJ
    Retina; 2017 Jan; 37(1):161-172. PubMed ID: 27380427
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.