BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

199 related articles for article (PubMed ID: 36917121)

  • 21. Confirming and expanding the phenotypes of
    Jiang Y; Ouyang J; Li S; Xiao X; Sun W; Zhang Q
    Mol Vis; 2021; 27():50-60. PubMed ID: 33633439
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma.
    Pierrache LHM; Kimchi A; Ratnapriya R; Roberts L; Astuti GDN; Obolensky A; Beryozkin A; Tjon-Fo-Sang MJH; Schuil J; Klaver CCW; Bongers EMHF; Haer-Wigman L; Schalij N; Breuning MH; Fischer GM; Banin E; Ramesar RS; Swaroop A; van den Born LI; Sharon D; Cremers FPM
    Ophthalmology; 2017 Jul; 124(7):992-1003. PubMed ID: 28412069
    [TBL] [Abstract][Full Text] [Related]  

  • 23. CPSF1 mutations are associated with early-onset high myopia and involved in retinal ganglion cell axon projection.
    Ouyang J; Sun W; Xiao X; Li S; Jia X; Zhou L; Wang P; Zhang Q
    Hum Mol Genet; 2019 Jun; 28(12):1959-1970. PubMed ID: 30689892
    [TBL] [Abstract][Full Text] [Related]  

  • 24. PHENOTYPIC VARIABILITY OF RECESSIVE RDH12-ASSOCIATED RETINAL DYSTROPHY.
    Zou X; Fu Q; Fang S; Li H; Ge Z; Yang L; Xu M; Sun Z; Li H; Li Y; Dong F; Chen R; Sui R
    Retina; 2019 Oct; 39(10):2040-2052. PubMed ID: 30134391
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Evaluation of 12 myopia-associated genes in Chinese patients with high myopia.
    Li J; Jiang D; Xiao X; Li S; Jia X; Sun W; Guo X; Zhang Q
    Invest Ophthalmol Vis Sci; 2015 Jan; 56(2):722-9. PubMed ID: 25587058
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Mutation survey and genotype-phenotype analysis of COL2A1 and COL11A1 genes in 16 Chinese patients with Stickler syndrome.
    Wang X; Jia X; Xiao X; Li S; Li J; Li Y; Wei Y; Liang X; Guo X
    Mol Vis; 2016; 22():697-704. PubMed ID: 27390512
    [TBL] [Abstract][Full Text] [Related]  

  • 27. LOXL3 Function Beyond Amino Oxidase and Role in Pathologies, Including Cancer.
    Laurentino TS; Soares RDS; Marie SKN; Oba-Shinjo SM
    Int J Mol Sci; 2019 Jul; 20(14):. PubMed ID: 31340433
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Autosomal Recessive Stickler Syndrome.
    Nixon TRW; Richards AJ; Martin H; Alexander P; Snead MP
    Genes (Basel); 2022 Jun; 13(7):. PubMed ID: 35885918
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Coexistence of GNAT1 and ABCA4 variants associated with Nougaret-type congenital stationary night blindness and childhood-onset cone-rod dystrophy.
    Hayashi T; Hosono K; Kurata K; Katagiri S; Mizobuchi K; Ueno S; Kondo M; Nakano T; Hotta Y
    Doc Ophthalmol; 2020 Apr; 140(2):147-157. PubMed ID: 31583501
    [TBL] [Abstract][Full Text] [Related]  

  • 30. 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]  

  • 31. Novel Splicing Variants in the ARR3 Gene Cause the Female-Limited Early-Onset High Myopia.
    Niu J; Zhu W; Jin X; Teng X; Zhang J
    Invest Ophthalmol Vis Sci; 2024 Mar; 65(3):32. PubMed ID: 38517428
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Progressive degeneration of the retina in Loxl3 mutant mouse model of Stickler syndrome.
    Liu Z; Mo F; Dong X; Chen G; Gao J; Zhang J
    Dev Biol; 2023 Mar; 495():54-62. PubMed ID: 36610533
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Novel
    Zhou L; Li T; Xing YQ; Li Y; Wu QS; Zhang MJ
    Int J Ophthalmol; 2016; 9(10):1396-1402. PubMed ID: 27803854
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Molecular and Clinical Findings in Patients With Knobloch Syndrome.
    Hull S; Arno G; Ku CA; Ge Z; Waseem N; Chandra A; Webster AR; Robson AG; Michaelides M; Weleber RG; Davagnanam I; Chen R; Holder GE; Pennesi ME; Moore AT
    JAMA Ophthalmol; 2016 Jul; 134(7):753-62. PubMed ID: 27259167
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Exome Sequence Analysis of 14 Families With High Myopia.
    Kloss BA; Tompson SW; Whisenhunt KN; Quow KL; Huang SJ; Pavelec DM; Rosenberg T; Young TL
    Invest Ophthalmol Vis Sci; 2017 Apr; 58(4):1982-1990. PubMed ID: 28384719
    [TBL] [Abstract][Full Text] [Related]  

  • 36. BEST1 novel mutation causes Bestrophinopathies in six families with distinct phenotypic diversity.
    Yang S; Li Z; Cheng W; Ma M; Qi R; Rui X; Ren Y; Sheng X; Rong W
    Mol Genet Genomic Med; 2023 Jan; 11(1):e2095. PubMed ID: 36378562
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Cone-rod dysfunction is a sign of early-onset high myopia.
    Wang P; Xiao X; Huang L; Guo X; Zhang Q
    Optom Vis Sci; 2013 Nov; 90(11):1327-30. PubMed ID: 24100477
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Mutation Spectrum and De Novo Mutation Analysis in Stickler Syndrome Patients with High Myopia or Retinal Detachment.
    Huang L; Chen C; Wang Z; Sun L; Li S; Zhang T; Luo X; Ding X
    Genes (Basel); 2020 Aug; 11(8):. PubMed ID: 32756486
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Mutation screening of 17 candidate genes in a cohort of 67 probands with early-onset high myopia.
    Liu F; Wang J; Xing Y; Li T
    Ophthalmic Physiol Opt; 2020 May; 40(3):271-280. PubMed ID: 32215939
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Clinical and Genetic Analysis of 63 Families Demonstrating Early and Advanced Characteristic Fundus as the Signature of CRB1 Mutations.
    Wang Y; Sun W; Xiao X; Li S; Jia X; Wang P; Zhang Q
    Am J Ophthalmol; 2021 Mar; 223():160-168. PubMed ID: 33342761
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 10.