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 *

234 related articles for article (PubMed ID: 38956727)

  • 21. Genetic and clinical characteristics of PROM1-related retinal degeneration in Korean.
    Hwang S; Kang SW; Jang JH; Kim SJ
    Sci Rep; 2023 Dec; 13(1):21877. PubMed ID: 38072963
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Consanguinity-based analysis of exome sequencing yields likely genetic causes in patients with inherited retinal dystrophy.
    Shen RJ; Wang JG; Li Y; Jin ZB
    Orphanet J Rare Dis; 2021 Jun; 16(1):278. PubMed ID: 34130719
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Novel CERKL variant in consanguineous Jordanian pedigrees with inherited retinal dystrophies.
    Azab B; Barham R; Ali D; Dardas Z; Rashdan L; Bijawi M; Maswadi R; Awidi A; Jafar H; Abu-Ameerh M; Al-Bdour M; Amr S; Awidi A
    Can J Ophthalmol; 2019 Feb; 54(1):51-59. PubMed ID: 30851774
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Novel mutation in
    Ahn J; Chiang J; Gorin MB
    Ophthalmic Genet; 2020 Aug; 41(4):386-389. PubMed ID: 32594822
    [TBL] [Abstract][Full Text] [Related]  

  • 25. The phenotypic variability of HK1-associated retinal dystrophy.
    Yuan Z; Li B; Xu M; Chang EY; Li H; Yang L; Wu S; Soens ZT; Li Y; Wong LC; Lewis RA; Sui R; Chen R
    Sci Rep; 2017 Aug; 7(1):7051. PubMed ID: 28765615
    [TBL] [Abstract][Full Text] [Related]  

  • 26. A Description of the Yield of Genetic Reinvestigation in Patients with Inherited Retinal Dystrophies and Previous Inconclusive Genetic Testing.
    Areblom M; Kjellström S; Andréasson S; Öhberg A; Gränse L; Kjellström U
    Genes (Basel); 2023 Jul; 14(7):. PubMed ID: 37510321
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies.
    Riera M; Navarro R; Ruiz-Nogales S; Méndez P; Burés-Jelstrup A; Corcóstegui B; Pomares E
    Sci Rep; 2017 Feb; 7():42078. PubMed ID: 28181551
    [TBL] [Abstract][Full Text] [Related]  

  • 28. 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]  

  • 29. Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis.
    Biswas P; Villanueva AL; Soto-Hermida A; Duncan JL; Matsui H; Borooah S; Kurmanov B; Richard G; Khan SY; Branham K; Huang B; Suk J; Bakall B; Goldberg JL; Gabriel L; Khan NW; Raghavendra PB; Zhou J; Devalaraja S; Huynh A; Alapati A; Zawaydeh Q; Weleber RG; Heckenlively JR; Hejtmancik JF; Riazuddin S; Sieving PA; Riazuddin SA; Frazer KA; Ayyagari R
    PLoS Genet; 2021 Oct; 17(10):e1009848. PubMed ID: 34662339
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Retinal Phenotype of Patients With Isolated Retinal Degeneration Due to CLN3 Pathogenic Variants in a French Retinitis Pigmentosa Cohort.
    Smirnov VM; Nassisi M; Solis Hernandez C; Méjécase C; El Shamieh S; Condroyer C; Antonio A; Meunier I; Andrieu C; Defoort-Dhellemmes S; Mohand-Said S; Sahel JA; Audo I; Zeitz C
    JAMA Ophthalmol; 2021 Mar; 139(3):278-291. PubMed ID: 33507216
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Genotypes Predispose Phenotypes-Clinical Features and Genetic Spectrum of
    Sung YC; Yang CH; Yang CM; Lin CW; Huang DS; Huang YS; Hu FR; Chen PL; Chen TC
    Genes (Basel); 2020 Nov; 11(12):. PubMed ID: 33261146
    [TBL] [Abstract][Full Text] [Related]  

  • 32. A Report on Molecular Diagnostic Testing for Inherited Retinal Dystrophies by Targeted Genetic Analyses.
    Ramkumar HL; Gudiseva HV; Kishaba KT; Suk JJ; Verma R; Tadimeti K; Thorson JA; Ayyagari R
    Genet Test Mol Biomarkers; 2017 Feb; 21(2):66-73. PubMed ID: 28005406
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Generation of gene corrected human isogenic iPSC lines (IDVi003-A_CR13, IDVi003-A_CR21, IDVi003-A_CR24) from an inherited retinal dystrophy patient-derived IPSC line ITM2B-5286-3 (IDVi003-A) carrying the ITM2B c.782A > C variant using CRISPR/Cas9.
    Ben Yacoub T; Letellier C; Wohlschlegel J; Condroyer C; Slembrouck-Brec A; Goureau O; Zeitz C; Audo I
    Stem Cell Res; 2023 Sep; 71():103166. PubMed ID: 37473460
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies.
    Bouzidi A; Charoute H; Charif M; Amalou G; Kandil M; Barakat A; Lenaers G
    Orphanet J Rare Dis; 2022 May; 17(1):197. PubMed ID: 35551639
    [TBL] [Abstract][Full Text] [Related]  

  • 35. 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]  

  • 36. Next-generation sequencing--based genetic testing and phenotype correlation in retinitis pigmentosa patients from India.
    Sen P; Srikrupa N; Maitra P; Srilekha S; Porkodi P; Gnanasekaran H; Bhende M; Khetan V; Mathavan S; Bhende P; Ratra D; Raman R; Rao C; Sripriya S
    Indian J Ophthalmol; 2023 Jun; 71(6):2512-2520. PubMed ID: 37322672
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort: The RD5000 Consortium.
    Heutinck PAT; van den Born LI; Vermeer M; Iglesias Gonzales AI; Hoyng CB; Pott JWR; Kroes HY; van Schooneveld MJ; Boon CJF; van Genderen MM; Plomp AS; de Jong-Hesse Y; van Egmond-Ebbeling MB; Hoefsloot LH; A Bergen A; Klaver CCW; Meester-Smoor MA; Thiadens AAHJ; Verhoeven VJM
    Invest Ophthalmol Vis Sci; 2024 Aug; 65(10):40. PubMed ID: 39189993
    [TBL] [Abstract][Full Text] [Related]  

  • 38. The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone, and macular dystrophy.
    Michaelides M; Gaillard MC; Escher P; Tiab L; Bedell M; Borruat FX; Barthelmes D; Carmona R; Zhang K; White E; McClements M; Robson AG; Holder GE; Bradshaw K; Hunt DM; Webster AR; Moore AT; Schorderet DF; Munier FL
    Invest Ophthalmol Vis Sci; 2010 Sep; 51(9):4771-80. PubMed ID: 20393116
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Spectrum of Genetic Variants in the Most Common Genes Causing Inherited Retinal Disease in a Large Molecularly Characterized United Kingdom Cohort.
    Lin S; Vermeirsch S; Pontikos N; Martin-Gutierrez MP; Daich Varela M; Malka S; Schiff E; Knight H; Wright G; Jurkute N; Simcoe MJ; Yu-Wai-Man P; Moosajee M; Michaelides M; Mahroo OA; Webster AR; Arno G
    Ophthalmol Retina; 2024 Jul; 8(7):699-709. PubMed ID: 38219857
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Pathogenic variants in
    Olivier G; Corton M; Intartaglia D; Verbakel SK; Sergouniotis PI; Le Meur G; Dhaenens CM; Naacke H; Avila-Fernández A; Hoyng CB; Klevering J; Bocquet B; Roubertie A; Sénéchal A; Banfi S; Muller A; Hamel CL; Black GC; Conte I; Roosing S; Zanlonghi X; Ayuso C; Meunier I; Manes G
    J Med Genet; 2021 Aug; 58(8):570-578. PubMed ID: 32817297
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 12.