BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

500 related articles for article (PubMed ID: 31630094)

  • 21. 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]  

  • 22. An assessment of the apex microarray technology in genotyping patients with Leber congenital amaurosis and early-onset severe retinal dystrophy.
    Henderson RH; Waseem N; Searle R; van der Spuy J; Russell-Eggitt I; Bhattacharya SS; Thompson DA; Holder GE; Cheetham ME; Webster AR; Moore AT
    Invest Ophthalmol Vis Sci; 2007 Dec; 48(12):5684-9. PubMed ID: 18055820
    [TBL] [Abstract][Full Text] [Related]  

  • 23. RPE65 mutation frequency and phenotypic variation according to exome sequencing in a tertiary centre for genetic eye diseases in China.
    Li S; Xiao X; Yi Z; Sun W; Wang P; Zhang Q
    Acta Ophthalmol; 2020 Mar; 98(2):e181-e190. PubMed ID: 31273949
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Extending the phenotypic spectrum of PRPF8, PRPH2, RP1 and RPGR, and the genotypic spectrum of early-onset severe retinal dystrophy.
    Georgiou M; Ali N; Yang E; Grewal PS; Rotsos T; Pontikos N; Robson AG; Michaelides M
    Orphanet J Rare Dis; 2021 Mar; 16(1):128. PubMed ID: 33712029
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa.
    Walia S; Fishman GA; Jacobson SG; Aleman TS; Koenekoop RK; Traboulsi EI; Weleber RG; Pennesi ME; Heon E; Drack A; Lam BL; Allikmets R; Stone EM
    Ophthalmology; 2010 Jun; 117(6):1190-8. PubMed ID: 20079931
    [TBL] [Abstract][Full Text] [Related]  

  • 26. RPE65 and retinal dystrophy: Report of new and recurrent mutations.
    Safari S; Zare-Abdollahi D; Bushehri A; Safari MR; Dehghani A; Tahmasebi Z; Khorram Khorshid HR; Ghadami M
    J Gene Med; 2020 Mar; 22(3):e3154. PubMed ID: 31957135
    [TBL] [Abstract][Full Text] [Related]  

  • 27. A novel mutation in the RPE65 gene causing Leber congenital amaurosis and its transcriptional expression in vitro.
    Mo G; Ding Q; Chen Z; Li Y; Yan M; Bu L; Song Y; Yin G
    PLoS One; 2014; 9(11):e112400. PubMed ID: 25383945
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Targeted next generation sequencing identified novel mutations in RPGRIP1 associated with both retinitis pigmentosa and Leber's congenital amaurosis in unrelated Chinese patients.
    Huang H; Wang Y; Chen H; Chen Y; Wu J; Chiang PW; Fan N; Su Y; Deng J; Chen D; Li Y; Zhang X; Zhang M; Liang S; Banerjee S; Qi M; Liu X
    Oncotarget; 2017 May; 8(21):35176-35183. PubMed ID: 28456785
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Homozygosity Mapping in Leber Congenital Amaurosis and Autosomal Recessive Retinitis Pigmentosa in South Indian Families.
    Srilekha S; Arokiasamy T; Srikrupa NN; Umashankar V; Meenakshi S; Sen P; Kapur S; Soumittra N
    PLoS One; 2015; 10(7):e0131679. PubMed ID: 26147992
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Clinical and Molecular Features of a Chinese Cohort With Syndromic and Nonsyndromic Retinal Dystrophies Related to the CEP290 Gene.
    Zhu T; Shen Y; Sun Z; Han X; Wei X; Li W; Lu C; Cheng T; Zou X; Li H; Cao Z; Gao H; Ma X; Luo M; Sui R
    Am J Ophthalmol; 2023 Apr; 248():96-106. PubMed ID: 36493848
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis.
    Li L; Xiao X; Li S; Jia X; Wang P; Guo X; Jiao X; Zhang Q; Hejtmancik JF
    PLoS One; 2011; 6(5):e19458. PubMed ID: 21602930
    [TBL] [Abstract][Full Text] [Related]  

  • 32. 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]  

  • 33. CRB1-Associated Retinal Dystrophies: Genetics, Clinical Characteristics, and Natural History.
    Daich Varela M; Georgiou M; Alswaiti Y; Kabbani J; Fujinami K; Fujinami-Yokokawa Y; Khoda S; Mahroo OA; Robson AG; Webster AR; AlTalbishi A; Michaelides M
    Am J Ophthalmol; 2023 Feb; 246():107-121. PubMed ID: 36099972
    [TBL] [Abstract][Full Text] [Related]  

  • 34. 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]  

  • 35. Involvement of LCA5 in Leber congenital amaurosis and retinitis pigmentosa in the Spanish population.
    Corton M; Avila-Fernandez A; Vallespín E; López-Molina MI; Almoguera B; Martín-Garrido E; Tatu SD; Khan MI; Blanco-Kelly F; Riveiro-Alvarez R; Brión M; García-Sandoval B; Cremers FPM; Carracedo A; Ayuso C
    Ophthalmology; 2014 Jan; 121(1):399-407. PubMed ID: 24144451
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes.
    Coppieters F; Casteels I; Meire F; De Jaegere S; Hooghe S; van Regemorter N; Van Esch H; Matuleviciene A; Nunes L; Meersschaut V; Walraedt S; Standaert L; Coucke P; Hoeben H; Kroes HY; Vande Walle J; de Ravel T; Leroy BP; De Baere E
    Hum Mutat; 2010 Oct; 31(10):E1709-66. PubMed ID: 20683928
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Screening of SPATA7 in patients with Leber congenital amaurosis and severe childhood-onset retinal dystrophy reveals disease-causing mutations.
    Mackay DS; Ocaka LA; Borman AD; Sergouniotis PI; Henderson RH; Moradi P; Robson AG; Thompson DA; Webster AR; Moore AT
    Invest Ophthalmol Vis Sci; 2011 May; 52(6):3032-8. PubMed ID: 21310915
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Mutation screening of 299 Spanish families with retinal dystrophies by Leber congenital amaurosis genotyping microarray.
    Vallespin E; Cantalapiedra D; Riveiro-Alvarez R; Wilke R; Aguirre-Lamban J; Avila-Fernandez A; Lopez-Martinez MA; Gimenez A; Trujillo-Tiebas MJ; Ramos C; Ayuso C
    Invest Ophthalmol Vis Sci; 2007 Dec; 48(12):5653-61. PubMed ID: 18055816
    [TBL] [Abstract][Full Text] [Related]  

  • 39.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

  • 40.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 25.