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 *

189 related articles for article (PubMed ID: 36115989)

  • 1. A novel nonsense variant (c.1499C>G) in CRB1 caused Leber congenital amaurosis-8 in a Chinese family and a literature review.
    Duan W; Zhou T; Jiang H; Zhang M; Hu M; Zhang L
    BMC Med Genomics; 2022 Sep; 15(1):197. PubMed ID: 36115989
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Lack of phenotypic effect of triallelic variation in SPATA7 in a family with Leber congenital amaurosis resulting from CRB1 mutations.
    Li L; Xiao X; Li S; Jiao X; Hejtmancik JF; Zhang Q
    Mol Vis; 2011; 17():3326-32. PubMed ID: 22219627
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Molecular genetics with clinical characteristics of Leber congenital amaurosis in the Han population of western China.
    Zhu L; Ouyang W; Zhang M; Wang H; Li S; Meng X; Yin ZQ
    Ophthalmic Genet; 2021 Aug; 42(4):392-401. PubMed ID: 33970760
    [No Abstract]   [Full Text] [Related]  

  • 4. CRB1-Related Leber Congenital Amaurosis: Reporting Novel Pathogenic Variants and a Brief Review on Mutations Spectrum.
    Saberi M; Golchehre Z; Karamzade A; Entezam M; Eshaghkhani Y; Alavinejad E; Khojasteh Jafari H; Keramatipour M
    Iran Biomed J; 2019 Sep; 23(5):362-8. PubMed ID: 31103025
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Novel gene variants in Polish patients with Leber congenital amaurosis (LCA).
    Skorczyk-Werner A; Niedziela Z; Stopa M; Krawczyński MR
    Orphanet J Rare Dis; 2020 Dec; 15(1):345. PubMed ID: 33308271
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Novel CRB1 pathogenic variant in Chuuk families with Leber congenital amaurosis.
    Albakri A; Pisuchpen P; Capasso JE; Schneider A; Kopinsky S; Glaser T; Chiang JP; Yomai AA; McNear D; Levin AV
    Am J Med Genet A; 2023 Apr; 191(4):1007-1012. PubMed ID: 36595661
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A novel pathogenic CRB1 variant presenting as Leber Congenital Amaurosis 8 and evaluation of gene editing feasibility.
    Sylla MM; Kolesinkova M; da Costa BL; Maumenee IH; Tsang SH; Quinn PMJ
    Doc Ophthalmol; 2023 Dec; 147(3):217-224. PubMed ID: 37804373
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Clinical and genetic characteristics of Leber congenital amaurosis with novel mutations in known genes based on a Chinese eastern coast Han population.
    Wang S; Zhang Q; Zhang X; Wang Z; Zhao P
    Graefes Arch Clin Exp Ophthalmol; 2016 Nov; 254(11):2227-2238. PubMed ID: 27422788
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy.
    Xu K; Xie Y; Sun T; Zhang X; Chen C; Li Y
    Br J Ophthalmol; 2020 Jul; 104(7):932-937. PubMed ID: 31630094
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A G1103R mutation in CRB1 is co-inherited with high hyperopia and Leber congenital amaurosis.
    Abouzeid H; Li Y; Maumenee IH; Dharmaraj S; Sundin O
    Ophthalmic Genet; 2006 Mar; 27(1):15-20. PubMed ID: 16543197
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Molecular background of Leber congenital amaurosis in a Polish cohort of patients-novel variants discovered by NGS.
    Skorczyk-Werner A; Sowińska-Seidler A; Wawrocka A; Walczak-Sztulpa J; Krawczyński MR
    J Appl Genet; 2023 Feb; 64(1):89-104. PubMed ID: 36369640
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Coat's like vasculopathy in leber congenital amaurosis secondary to homozygous mutations in CRB1: a case report and discussion of the management options.
    Hasan SM; Azmeh A; Mostafa O; Megarbane A
    BMC Res Notes; 2016 Feb; 9():91. PubMed ID: 26872607
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Targeted deletion of Crb1/Crb2 in the optic vesicle models key features of leber congenital amaurosis 8.
    Cho SH; Nahar A; Kim JH; Lee M; Kozmik Z; Kim S
    Dev Biol; 2019 Sep; 453(2):141-154. PubMed ID: 31145883
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Current perspectives in Leber congenital amaurosis type 8 mouse modeling.
    Nahar A; Cho SH
    Dev Dyn; 2022 Jul; 251(7):1094-1106. PubMed ID: 35150033
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Leber congenital amaurosis: first genotyped Hungarian patients and report of 2 novel mutations in the CRB1 and CEP290 genes.
    Vámos R; Külm M; Szabó V; Ahman A; Lesch B; Schneider M; Varsányi B; Nagy ZZ; Németh J; Farkas Á
    Eur J Ophthalmol; 2016; 26(1):78-84. PubMed ID: 26165328
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Loss of CRB2 in Müller glial cells modifies a CRB1-associated retinitis pigmentosa phenotype into a Leber congenital amaurosis phenotype.
    Quinn PM; Mulder AA; Henrique Alves C; Desrosiers M; de Vries SI; Klooster J; Dalkara D; Koster AJ; Jost CR; Wijnholds J
    Hum Mol Genet; 2019 Jan; 28(1):105-123. PubMed ID: 30239717
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Molecular Diagnosis of 34 Japanese Families with Leber Congenital Amaurosis Using Targeted Next Generation Sequencing.
    Hosono K; Nishina S; Yokoi T; Katagiri S; Saitsu H; Kurata K; Miyamichi D; Hikoya A; Mizobuchi K; Nakano T; Minoshima S; Fukami M; Kondo H; Sato M; Hayashi T; Azuma N; Hotta Y
    Sci Rep; 2018 May; 8(1):8279. PubMed ID: 29844330
    [TBL] [Abstract][Full Text] [Related]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 10.