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 *

170 related articles for article (PubMed ID: 38399542)

  • 1.
    D'Esposito F; Randazzo V; Vega MI; Esposito G; Maltese PE; Torregrossa S; Scibetta P; Listì F; Gagliano C; Scalia L; Pioppo A; Marino A; Piergentili M; Malvone E; Fioretti T; Vitrano A; Piccione M; Avitabile T; Salvatore F; Bertelli M; Costagliola C; Cordeiro MF; Maggio A; D'Alcamo E
    Medicina (Kaunas); 2024 Feb; 60(2):. PubMed ID: 38399542
    [No Abstract]   [Full Text] [Related]  

  • 2. Macular Dystrophy and Cone-Rod Dystrophy Caused by Mutations in the RP1 Gene: Extending the RP1 Disease Spectrum.
    Verbakel SK; van Huet RAC; den Hollander AI; Geerlings MJ; Kersten E; Klevering BJ; Klaver CCW; Plomp AS; Wesseling NL; Bergen AAB; Nikopoulos K; Rivolta C; Ikeda Y; Sonoda KH; Wada Y; Boon CJF; Nakazawa T; Hoyng CB; Nishiguchi KM
    Invest Ophthalmol Vis Sci; 2019 Mar; 60(4):1192-1203. PubMed ID: 30913292
    [TBL] [Abstract][Full Text] [Related]  

  • 3. RP1 and autosomal dominant rod-cone dystrophy: novel mutations, a review of published variants, and genotype-phenotype correlation.
    Audo I; Mohand-Saïd S; Dhaenens CM; Germain A; Orhan E; Antonio A; Hamel C; Sahel JA; Bhattacharya SS; Zeitz C
    Hum Mutat; 2012 Jan; 33(1):73-80. PubMed ID: 22052604
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Expanding the retinal phenotype of
    Riera M; Abad-Morales V; Navarro R; Ruiz-Nogales S; Méndez-Vendrell P; Corcostegui B; Pomares E
    Br J Ophthalmol; 2020 Feb; 104(2):173-181. PubMed ID: 31079053
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Identification of an RP1 prevalent founder mutation and related phenotype in Spanish patients with early-onset autosomal recessive retinitis.
    Avila-Fernandez A; Corton M; Nishiguchi KM; Muñoz-Sanz N; Benavides-Mori B; Blanco-Kelly F; Riveiro-Alvarez R; Garcia-Sandoval B; Rivolta C; Ayuso C
    Ophthalmology; 2012 Dec; 119(12):2616-21. PubMed ID: 22917891
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Biallelic
    Huckfeldt RM; Grigorian F; Place E; Comander JI; Vavvas D; Young LH; Yang P; Shurygina M; Pierce EA; Pennesi ME
    Mol Vis; 2020; 26():423-433. PubMed ID: 32565670
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Novel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigree.
    Méndez-Vidal C; Bravo-Gil N; González-Del Pozo M; Vela-Boza A; Dopazo J; Borrego S; Antiñolo G
    BMC Genet; 2014 Dec; 15():143. PubMed ID: 25494902
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Next-generation sequencing to solve complex inherited retinal dystrophy: A case series of multiple genes contributing to disease in extended families.
    Jones KD; Wheaton DK; Bowne SJ; Sullivan LS; Birch DG; Chen R; Daiger SP
    Mol Vis; 2017; 23():470-481. PubMed ID: 28761320
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Clinical heterogeneity in retinitis pigmentosa caused by variants in
    Al-Bdour M; Pauleck S; Dardas Z; Barham R; Ali D; Amr S; Mustafa L; Abu-Ameerh M; Maswadi R; Azab B; Awidi A
    Mol Vis; 2020; 26():445-458. PubMed ID: 32587456
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations.
    Mackay DS; Borman AD; Sui R; van den Born LI; Berson EL; Ocaka LA; Davidson AE; Heckenlively JR; Branham K; Ren H; Lopez I; Maria M; Azam M; Henkes A; Blokland E; Qamar R; Webster AR; Cremers FPM; Moore AT; Koenekoop RK; ; Andreasson S; de Baere E; Bennett J; Chader GJ; Berger W; Golovleva I; Greenberg J; den Hollander AI; Klaver CCW; Klevering BJ; Lorenz B; Preising MN; Ramsear R; Roberts L; Roepman R; Rohrschneider K; Wissinger B
    Hum Mutat; 2013 Nov; 34(11):1537-1546. PubMed ID: 23946133
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Clinical and genetic findings of a Japanese patient with RP1-related autosomal recessive retinitis pigmentosa.
    Kurata K; Hosono K; Hotta Y
    Doc Ophthalmol; 2018 Aug; 137(1):47-56. PubMed ID: 30027431
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A founder Alu insertion in RP1 gene in Japanese patients with retinitis pigmentosa.
    Nishiguchi KM; Fujita K; Ikeda Y; Kunikata H; Koyanagi Y; Akiyama M; Abe T; Wada Y; Sonoda KH; Nakazawa T
    Jpn J Ophthalmol; 2020 Jul; 64(4):346-350. PubMed ID: 32193659
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Variant Profiling of a Large Cohort of 138 Chinese Families With Autosomal Dominant Retinitis Pigmentosa.
    Xiao T; Xie Y; Zhang X; Xu K; Zhang X; Jin ZB; Li Y
    Front Cell Dev Biol; 2020; 8():629994. PubMed ID: 33598457
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Hypomorphic
    Farag S; Yusuf IH; Kaukonen M; Taylor LJ; Charbel Issa P; MacLaren RE
    Ophthalmic Genet; 2024 Apr; 45(2):201-206. PubMed ID: 37728066
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Variants of RP1 gene in Chinese patients with autosomal dominant retinitis pigmentosa.
    Sheng X; Zhang X; Wu W; Zhuang W; Meng R; Rong W
    Can J Ophthalmol; 2008 Apr; 43(2):208-12. PubMed ID: 18347624
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Three novel and the common Arg677Ter RP1 protein truncating mutations causing autosomal dominant retinitis pigmentosa in a Spanish population.
    Gamundi MJ; Hernan I; Martínez-Gimeno M; Maseras M; García-Sandoval B; Ayuso C; Antiñolo G; Baiget M; Carballo M
    BMC Med Genet; 2006 Apr; 7():35. PubMed ID: 16597330
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa.
    Bowne SJ; Daiger SP; Hims MM; Sohocki MM; Malone KA; McKie AB; Heckenlively JR; Birch DG; Inglehearn CF; Bhattacharya SS; Bird A; Sullivan LS
    Hum Mol Genet; 1999 Oct; 8(11):2121-8. PubMed ID: 10484783
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole-exome sequencing.
    Suga A; Yoshitake K; Minematsu N; Tsunoda K; Fujinami K; Miyake Y; Kuniyoshi K; Hayashi T; Mizobuchi K; Ueno S; Terasaki H; Kominami T; Nao-I N; Mawatari G; Mizota A; Shinoda K; Kondo M; Kato K; Sekiryu T; Nakamura M; Kusuhara S; Yamamoto H; Yamamoto S; Mochizuki K; Kondo H; Matsushita I; Kameya S; Fukuchi T; Hatase T; Horiguchi M; Shimada Y; Tanikawa A; Yamamoto S; Miura G; Ito N; Murakami A; Fujimaki T; Hotta Y; Tanaka K; Iwata T
    Hum Mutat; 2022 Dec; 43(12):2251-2264. PubMed ID: 36284460
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Longitudinal Clinical Follow-up and Genetic Spectrum of Patients With Rod-Cone Dystrophy Associated With Mutations in PDE6A and PDE6B.
    Khateb S; Nassisi M; Bujakowska KM; Méjécase C; Condroyer C; Antonio A; Foussard M; Démontant V; Mohand-Saïd S; Sahel JA; Zeitz C; Audo I
    JAMA Ophthalmol; 2019 Jun; 137(6):669-679. PubMed ID: 30998820
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Genotype-Phenotype Correlations in
    Mizobuchi K; Hayashi T; Oishi N; Kubota D; Kameya S; Higasa K; Futami T; Kondo H; Hosono K; Kurata K; Hotta Y; Yoshitake K; Iwata T; Matsuura T; Nakano T
    J Clin Med; 2021 May; 10(11):. PubMed ID: 34073704
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.