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 *

252 related articles for article (PubMed ID: 36369640)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. Genetic and Clinical Profile of Retinopathies Due to Disease-Causing Variants in Leber Congenital Amaurosis (LCA)-Associated Genes in a Large German Cohort.
    Zobor D; Brühwiler B; Zrenner E; Weisschuh N; Kohl S
    Int J Mol Sci; 2023 May; 24(10):. PubMed ID: 37240262
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Diagnostic application of clinical exome sequencing in Leber congenital amaurosis.
    Han J; Rim JH; Hwang IS; Kim J; Shin S; Lee ST; Choi JR
    Mol Vis; 2017; 23():649-659. PubMed ID: 28966547
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. The genetic profile of Leber congenital amaurosis in an Australian cohort.
    Thompson JA; De Roach JN; McLaren TL; Montgomery HE; Hoffmann LH; Campbell IR; Chen FK; Mackey DA; Lamey TM
    Mol Genet Genomic Med; 2017 Nov; 5(6):652-667. PubMed ID: 29178642
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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]  

  • 10. Copy number variations and multiallelic variants in Korean patients with Leber congenital amaurosis.
    Surl D; Shin S; Lee ST; Choi JR; Lee J; Byeon SH; Han SH; Lim HT; Han J
    Mol Vis; 2020; 26():26-35. PubMed ID: 32165824
    [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. Advantage of Whole Exome Sequencing over Allele-Specific and Targeted Segment Sequencing in Detection of Novel TULP1 Mutation in Leber Congenital Amaurosis.
    Guo Y; Prokudin I; Yu C; Liang J; Xie Y; Flaherty M; Tian L; Crofts S; Wang F; Snyder J; Donaldson C; Abdel-Magid N; Vazquez L; Keating B; Hakonarson H; Wang J; Jamieson RV
    Ophthalmic Genet; 2015; 36(4):333-8. PubMed ID: 24547928
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Clinical course of a Japanese girl with Leber congenital amaurosis associated with a novel nonsense pathogenic variant in
    Kayazawa T; Kuniyoshi K; Hatsukawa Y; Fujinami K; Yoshitake K; Tsunoda K; Shimojo H; Iwata T; Kusaka S
    Ophthalmic Genet; 2022 Jun; 43(3):400-408. PubMed ID: 35026968
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Clinical and genetic studies for a cohort of patients with Leber congenital amaurosis.
    Zhou Y; Huang L; Xie Y; Liu W; Zhang S; Liu L; Lin P; Li N
    Graefes Arch Clin Exp Ophthalmol; 2024 Sep; 262(9):3029-3038. PubMed ID: 38662103
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Molecular genetics of Leber congenital amaurosis in Chinese: New data from 66 probands and mutation overview of 159 probands.
    Xu Y; Xiao X; Li S; Jia X; Xin W; Wang P; Sun W; Huang L; Guo X; Zhang Q
    Exp Eye Res; 2016 Aug; 149():93-99. PubMed ID: 27375279
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Clinical and molecular findings in a cohort of 152 Brazilian severe early onset inherited retinal dystrophy patients.
    Sallum JMF; Motta FL; Arno G; Porto FBO; Resende RG; Belfort R
    Am J Med Genet C Semin Med Genet; 2020 Sep; 184(3):728-752. PubMed ID: 32865313
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Clinical and genetic findings in a family with NMNAT1-associated Leber congenital amaurosis: case report and review of the literature.
    Hedergott A; Volk AE; Herkenrath P; Thiele H; Fricke J; Altmüller J; Nürnberg P; Kubisch C; Neugebauer A
    Graefes Arch Clin Exp Ophthalmol; 2015 Dec; 253(12):2239-46. PubMed ID: 26464178
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. 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]  

  • 20. Whole Exome Sequencing in Eight Thai Patients With Leber Congenital Amaurosis Reveals Mutations in the CTNNA1 and CYP4V2 Genes.
    Jinda W; Taylor TD; Suzuki Y; Thongnoppakhun W; Limwongse C; Lertrit P; Trinavarat A; Atchaneeyasakul LO
    Invest Ophthalmol Vis Sci; 2017 Apr; 58(4):2413-2420. PubMed ID: 28453600
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.