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 *

323 related articles for article (PubMed ID: 17360538)

  • 101. Novel compound heterozygous synonymous and missense variants in the MYO7A gene identified by next-generation sequencing in a Chinese family with nonsyndromic hearing loss.
    Xiang Y; Xu C; Xu Y; Zhou L; Tang S; Xu X
    J Clin Lab Anal; 2022 Nov; 36(11):e24708. PubMed ID: 36164746
    [TBL] [Abstract][Full Text] [Related]  

  • 102. The genetic and phenotypic landscapes of Usher syndrome: from disease mechanisms to a new classification.
    Delmaghani S; El-Amraoui A
    Hum Genet; 2022 Apr; 141(3-4):709-735. PubMed ID: 35353227
    [TBL] [Abstract][Full Text] [Related]  

  • 103. Genetics, pathogenesis and therapeutic developments for Usher syndrome type 2.
    Stemerdink M; García-Bohórquez B; Schellens R; Garcia-Garcia G; Van Wijk E; Millan JM
    Hum Genet; 2022 Apr; 141(3-4):737-758. PubMed ID: 34331125
    [TBL] [Abstract][Full Text] [Related]  

  • 104. Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.
    Le Quesne Stabej P; Saihan Z; Rangesh N; Steele-Stallard HB; Ambrose J; Coffey A; Emmerson J; Haralambous E; Hughes Y; Steel KP; Luxon LM; Webster AR; Bitner-Glindzicz M
    J Med Genet; 2012 Jan; 49(1):27-36. PubMed ID: 22135276
    [TBL] [Abstract][Full Text] [Related]  

  • 105. Clinical aspects of Usher syndrome and the USH2A gene in a cohort of 433 patients.
    Blanco-Kelly F; Jaijo T; Aller E; Avila-Fernandez A; López-Molina MI; Giménez A; García-Sandoval B; Millán JM; Ayuso C
    JAMA Ophthalmol; 2015 Feb; 133(2):157-64. PubMed ID: 25375654
    [TBL] [Abstract][Full Text] [Related]  

  • 106. Correlation between Genotype and Phenotype in 69 Chinese Patients with USH2A Mutations: A comparative study of the patients with Usher Syndrome and Nonsyndromic Retinitis Pigmentosa.
    Meng X; Liu X; Li Y; Guo T; Yang L
    Acta Ophthalmol; 2021 Jun; 99(4):e447-e460. PubMed ID: 33124170
    [TBL] [Abstract][Full Text] [Related]  

  • 107. Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients.
    Jiang L; Liang X; Li Y; Wang J; Zaneveld JE; Wang H; Xu S; Wang K; Wang B; Chen R; Sui R
    Orphanet J Rare Dis; 2015 Sep; 10():110. PubMed ID: 26338283
    [TBL] [Abstract][Full Text] [Related]  

  • 108. Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis Pigmentosa.
    Pierrache LH; Hartel BP; van Wijk E; Meester-Smoor MA; Cremers FP; de Baere E; de Zaeytijd J; van Schooneveld MJ; Cremers CW; Dagnelie G; Hoyng CB; Bergen AA; Leroy BP; Pennings RJ; van den Born LI; Klaver CC
    Ophthalmology; 2016 May; 123(5):1151-60. PubMed ID: 26927203
    [TBL] [Abstract][Full Text] [Related]  

  • 109. Genetic and clinical findings of panel-based targeted exome sequencing in a northeast Chinese cohort with retinitis pigmentosa.
    Sun Y; Li W; Li JK; Wang ZS; Bai JY; Xu L; Xing B; Yang W; Wang ZW; Wang LS; He W; Chen F
    Mol Genet Genomic Med; 2020 Apr; 8(4):e1184. PubMed ID: 32100970
    [TBL] [Abstract][Full Text] [Related]  

  • 110. Identification of 13 novel USH2A mutations in Chinese retinitis pigmentosa and Usher syndrome patients by targeted next-generation sequencing.
    Qu LH; Jin X; Long YL; Ren JY; Weng CH; Xu HW; Liu Y; Meng XH; Li SY; Yin ZQ
    Biosci Rep; 2020 Jan; 40(1):. PubMed ID: 31904091
    [TBL] [Abstract][Full Text] [Related]  

  • 111. Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients.
    Koyanagi Y; Akiyama M; Nishiguchi KM; Momozawa Y; Kamatani Y; Takata S; Inai C; Iwasaki Y; Kumano M; Murakami Y; Omodaka K; Abe T; Komori S; Gao D; Hirakata T; Kurata K; Hosono K; Ueno S; Hotta Y; Murakami A; Terasaki H; Wada Y; Nakazawa T; Ishibashi T; Ikeda Y; Kubo M; Sonoda KH
    J Med Genet; 2019 Oct; 56(10):662-670. PubMed ID: 31213501
    [TBL] [Abstract][Full Text] [Related]  

  • 112. Whole exome sequencing identifies novel USH2A mutations and confirms Usher syndrome 2 diagnosis in Chinese retinitis pigmentosa patients.
    Ng TK; Tang W; Cao Y; Chen S; Zheng Y; Xiao X; Chen H
    Sci Rep; 2019 Apr; 9(1):5628. PubMed ID: 30948794
    [TBL] [Abstract][Full Text] [Related]  

  • 113. Genetics of Usher Syndrome: New Insights From a Meta-analysis.
    Jouret G; Poirsier C; Spodenkiewicz M; Jaquin C; Gouy E; Arndt C; Labrousse M; Gaillard D; Doco-Fenzy M; Lebre AS
    Otol Neurotol; 2019 Jan; 40(1):121-129. PubMed ID: 30531642
    [TBL] [Abstract][Full Text] [Related]  

  • 114. Genotype Characterization and MiRNA Expression Profiling in Usher Syndrome Cell Lines.
    Tom WA; Chandel DS; Jiang C; Krzyzanowski G; Fernando N; Olou A; Fernando MR
    Int J Mol Sci; 2024 Sep; 25(18):. PubMed ID: 39337481
    [TBL] [Abstract][Full Text] [Related]  

  • 115. Genetic Basis of Hearing Loss in Mongolian Patients: A Next-Generation Sequencing Study.
    Gombojav B; Erdenechuluun J; Makhbal Z; Danshiitsoodol N; Purevdorj E; Jargalmaa M; Batsaikhan T; Lin PH; Lu YS; Lo MY; Tseng HY; Tsai CY; Wu CC
    Genes (Basel); 2024 Sep; 15(9):. PubMed ID: 39336818
    [TBL] [Abstract][Full Text] [Related]  

  • 116. Gene Therapy for Retinitis Pigmentosa: Current Challenges and New Progress.
    Liu Y; Zong X; Cao W; Zhang W; Zhang N; Yang N
    Biomolecules; 2024 Jul; 14(8):. PubMed ID: 39199291
    [TBL] [Abstract][Full Text] [Related]  

  • 117. The association between GJB2 gene (producing Cx26 protein) and the ventricular storm: A case report.
    Nikoo MH; Hatamnejad MR; Emkanjoo Z; Arjangzadeh A; Motahari Moadab M; Bazrafshan M; Bazrafshan Drissi H
    ARYA Atheroscler; 2024; 20(2):1-7. PubMed ID: 39170815
    [TBL] [Abstract][Full Text] [Related]  

  • 118. A large-scale screening identified in USH2A gene the P3272L founder pathogenic variant explaining familial Usher syndrome in Sardinia, Italy.
    Serra R; Rallo V; Steri M; Olla S; Piras MG; Marongiu M; Gorospe M; Schlessinger D; Pinna A; Fiorillo E; Cucca F; Angius A
    BMC Ophthalmol; 2024 Jul; 24(1):306. PubMed ID: 39044131
    [TBL] [Abstract][Full Text] [Related]  

  • 119. Syndromic Retinitis Pigmentosa: A 15-Patient Study.
    Holanda IP; Rim PHH; Rare Genomes Project Consortium ; Guaragna MS; Gil-da-Silva-Lopes VL; Steiner CE
    Genes (Basel); 2024 Apr; 15(4):. PubMed ID: 38674450
    [TBL] [Abstract][Full Text] [Related]  

  • 120. Phototactic preference and its genetic basis in the planulae of the colonial Hydrozoan
    Birch S; McGee L; Provencher C; DeMio C; Plachetzki D
    bioRxiv; 2024 Apr; ():. PubMed ID: 38617216
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 17.