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 *

182 related articles for article (PubMed ID: 38474159)

  • 1.
    Fernández-Caballero L; Martín-Merida I; Blanco-Kelly F; Avila-Fernandez A; Carreño E; Fernandez-San Jose P; Irigoyen C; Jimenez-Rolando B; Lopez-Grondona F; Mahillo I; Martin-Gutierrez MP; Minguez P; Perea-Romero I; Del Pozo-Valero M; Riveiro-Alvarez R; Rodilla C; Rodriguez-Peña L; Sánchez-Barbero AI; Swafiri ST; Trujillo-Tiebas MJ; Zurita O; García-Sandoval B; Corton M; Ayuso C
    Int J Mol Sci; 2024 Mar; 25(5):. PubMed ID: 38474159
    [No Abstract]   [Full Text] [Related]  

  • 2. PRPH2-Associated Retinopathy: Novel Variants and Genotype-Phenotype Correlations.
    Bianco L; Arrigo A; Antropoli A; Saladino A; Spiga I; Patricelli MG; Bandello F; Carrera P; Battaglia Parodi M
    Ophthalmol Retina; 2023 May; 7(5):450-461. PubMed ID: 36563963
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Founder Effect of a c.828+3A>T Splice Site Mutation in Peripherin 2 (PRPH2) Causing Autosomal Dominant Retinal Dystrophies.
    Shankar SP; Birch DG; Ruiz RS; Hughbanks-Wheaton DK; Sullivan LS; Bowne SJ; Stone EM; Daiger SP
    JAMA Ophthalmol; 2015 May; 133(5):511-7. PubMed ID: 25675413
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Genetic and Phenotypic Landscape of
    Oishi A; Fujinami K; Mawatari G; Naoi N; Ikeda Y; Ueno S; Kuniyoshi K; Hayashi T; Kondo H; Mizota A; Shinoda K; Kusuhara S; Nakamura M; Iwata T; Tsujikawa A; Tsunoda K
    Genes (Basel); 2021 Nov; 12(11):. PubMed ID: 34828423
    [No Abstract]   [Full Text] [Related]  

  • 5. New Insight into the Genotype-Phenotype Correlation of
    Wang Y; Wang J; Jiang Y; Zhu D; Ouyang J; Yi Z; Li S; Jia X; Xiao X; Sun W; Wang P; Zhang Q
    Int J Mol Sci; 2023 Apr; 24(7):. PubMed ID: 37047703
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Autosomal Dominant Retinal Dystrophies Caused by a Founder Splice Site Mutation, c.828+3A>T, in PRPH2 and Protein Haplotypes in trans as Modifiers.
    Shankar SP; Hughbanks-Wheaton DK; Birch DG; Sullivan LS; Conneely KN; Bowne SJ; Stone EM; Daiger SP
    Invest Ophthalmol Vis Sci; 2016 Feb; 57(2):349-59. PubMed ID: 26842753
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Genotype-phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing.
    Huang XF; Huang F; Wu KC; Wu J; Chen J; Pang CP; Lu F; Qu J; Jin ZB
    Genet Med; 2015 Apr; 17(4):271-8. PubMed ID: 25356976
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Next-generation sequencing targeted disease panel in rod-cone retinal dystrophies in Māori and Polynesian reveals novel changes and a common founder mutation.
    Vincent AL; Abeysekera N; van Bysterveldt KA; Oliver VF; Ellingford JM; Barton S; Black GC
    Clin Exp Ophthalmol; 2017 Dec; 45(9):901-910. PubMed ID: 28488341
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Genetics of Retinitis Pigmentosa and Other Hereditary Retinal Disorders in Western Switzerland.
    Conti GM; Vaclavik V; Rivolta C; Escher P; Schorderet DF; Munier FL; Tran HV
    Ophthalmic Res; 2024; 67(1):172-182. PubMed ID: 38160664
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Expanded Phenotypic Spectrum of Retinopathies Associated with Autosomal Recessive and Dominant Mutations in PROM1.
    Del Pozo-Valero M; Martin-Merida I; Jimenez-Rolando B; Arteche A; Avila-Fernandez A; Blanco-Kelly F; Riveiro-Alvarez R; Van Cauwenbergh C; De Baere E; Rivolta C; Garcia-Sandoval B; Corton M; Ayuso C
    Am J Ophthalmol; 2019 Nov; 207():204-214. PubMed ID: 31129250
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Phenotypic variability in PRPH2 as demonstrated by a family with incomplete penetrance of autosomal dominant cone-rod dystrophy.
    Soucy M; Kolesnikova M; Kim AH; Tsang SH
    Doc Ophthalmol; 2023 Jun; 146(3):267-272. PubMed ID: 36609934
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Novel molecular mechanisms for Prph2-associated pattern dystrophy.
    Chakraborty D; Strayve DG; Makia MS; Conley SM; Kakahel M; Al-Ubaidi MR; Naash MI
    FASEB J; 2020 Jan; 34(1):1211-1230. PubMed ID: 31914632
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. 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]  

  • 16. Autosomal dominant retinitis pigmentosa with macular involvement associated with a disease haplotype that included a novel PRPH2 variant (p.Cys250Gly).
    Katagiri S; Hayashi T; Mizobuchi K; Yoshitake K; Iwata T; Nakano T
    Ophthalmic Genet; 2018 Jun; 39(3):357-365. PubMed ID: 29630435
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Biallelic Variants in TULP1 Are Associated with Heterogeneous Phenotypes of Retinal Dystrophy.
    Bodenbender JP; Marino V; Bethge L; Stingl K; Haack TB; Biskup S; Kohl S; Kühlewein L; Dell'Orco D; Weisschuh N
    Int J Mol Sci; 2023 Jan; 24(3):. PubMed ID: 36769033
    [TBL] [Abstract][Full Text] [Related]  

  • 18. RPE65-related retinal dystrophy: Mutational and phenotypic spectrum in 45 affected patients.
    Lopez-Rodriguez R; Lantero E; Blanco-Kelly F; Avila-Fernandez A; Martin Merida I; Del Pozo-Valero M; Perea-Romero I; Zurita O; Jiménez-Rolando B; Swafiri ST; Riveiro-Alvarez R; Trujillo-Tiebas MJ; Carreño Salas E; García-Sandoval B; Corton M; Ayuso C
    Exp Eye Res; 2021 Nov; 212():108761. PubMed ID: 34492281
    [TBL] [Abstract][Full Text] [Related]  

  • 19. NGS Analysis for Molecular Diagnosis of Retinitis Pigmentosa (RP): Detection of a Novel Variant in
    Strafella C; Caputo V; Pagliaroli G; Iozzo N; Campoli G; Carboni S; Peconi C; Galota RM; Zampatti S; Minozzi G; Novelli G; Giardina E; Cascella R
    Genes (Basel); 2019 Oct; 10(10):. PubMed ID: 31614793
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation.
    Boulanger-Scemama E; El Shamieh S; Démontant V; Condroyer C; Antonio A; Michiels C; Boyard F; Saraiva JP; Letexier M; Souied E; Mohand-Saïd S; Sahel JA; Zeitz C; Audo I
    Orphanet J Rare Dis; 2015 Jun; 10():85. PubMed ID: 26103963
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.