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 *

125 related articles for article (PubMed ID: 34282730)

  • 1. Whole-exome sequencing identified a novel mutation in
    Tang H; Mao J; Xiang J; Liu M; Li H; Wang T
    J Genet; 2021; 100():. PubMed ID: 34282730
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Whole-exome sequencing reveals a novel CHM gene mutation in a family with choroideremia initially diagnosed as retinitis pigmentosa.
    Guo H; Li J; Gao F; Li J; Wu X; Liu Q
    BMC Ophthalmol; 2015 Jul; 15():85. PubMed ID: 26216097
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Identification of Novel Deletions as the Underlying Cause of Retinal Degeneration in Two Pedigrees.
    Branham K; Guru AA; Kozak I; Biswas P; Othman M; Kishaba K; Mansoor H; Riazuddin S; Heckenlively JR; Riazuddin SA; Hejtmancik JF; Sieving PA; Ayyagari R
    Adv Exp Med Biol; 2018; 1074():229-236. PubMed ID: 29721948
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Whole exome sequencing of a family revealed a novel variant in the CHM gene, c.22delG p.(Glu8Serfs*4), which co-segregated with choroideremia.
    Dan H; Li T; Lei X; Huang X; Xing Y; Shen Y
    Biosci Rep; 2020 May; 40(5):. PubMed ID: 32364220
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Single-Exome sequencing identified a novel RP2 mutation in a child with X-linked retinitis pigmentosa.
    Lim H; Park YM; Lee JK; Taek Lim H
    Can J Ophthalmol; 2016 Oct; 51(5):326-330. PubMed ID: 27769321
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Genetic analysis and clinical phenotype of two Indian families with X-linked choroideremia.
    Battu R; Jeyabalan N; Murthy P; Reddy KS; Schouten JS; Webers CA
    Indian J Ophthalmol; 2016 Dec; 64(12):924-929. PubMed ID: 28112135
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Exome sequencing reveals CHM mutations in six families with atypical choroideremia initially diagnosed as retinitis pigmentosa.
    Li S; Guan L; Fang S; Jiang H; Xiao X; Yang J; Wang P; Yin Y; Guo X; Wang J; Zhang J; Zhang Q
    Int J Mol Med; 2014 Aug; 34(2):573-7. PubMed ID: 24913019
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Molecular analysis of the choroideremia gene related clinical findings in two families with choroideremia.
    Lin Y; Liu X; Luo L; Qu B; Jiang S; Yang H; Liang X; Ye S; Liu Y
    Mol Vis; 2011; 17():2564-9. PubMed ID: 22025891
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Novel CHM mutations identified in Chinese families with Choroideremia.
    Cai XB; Huang XF; Tong Y; Lu QK; Jin ZB
    Sci Rep; 2016 Oct; 6():35360. PubMed ID: 27739455
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Clinical characteristics of a large choroideremia pedigree carrying a novel CHM mutation.
    Huang AS; Kim LA; Fawzi AA
    Arch Ophthalmol; 2012 Sep; 130(9):1184-9. PubMed ID: 22965595
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Autofluorescence in female carriers with choroideremia: A familial case with a novel mutation in the
    Ortiz-Ramirez GY; Villanueva-Mendoza C; Zenteno Ruiz JC; Reyes M; Cortés-González V
    Ophthalmic Genet; 2020 Dec; 41(6):625-628. PubMed ID: 32835561
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Single-base substitutions in the CHM promoter as a cause of choroideremia.
    Radziwon A; Arno G; K Wheaton D; McDonagh EM; Baple EL; Webb-Jones K; G Birch D; Webster AR; MacDonald IM
    Hum Mutat; 2017 Jun; 38(6):704-715. PubMed ID: 28271586
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A Novel Mutation in the Choroideremia Gene in a Turkish Family.
    Iftikhar M; Wolfson Y; Sodhi S; Usmani B; Scholl HPN; Shah SMA
    J Coll Physicians Surg Pak; 2019 Jul; 29(7):677-679. PubMed ID: 31253224
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Genetic study in a tunisian family revealed IVS1+1G>A mutation in the CHM gene.
    Ben Charfeddine I; Ben Lazreg T; Ben Rayana N; Amara A; Mamaï O; Knani L; Mili A; M'sakni A; Saad A; Ben Hadj Hamida F; Gribaa M
    Ann Biol Clin (Paris); 2015; 73(4):469-73. PubMed ID: 26411914
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Novel truncating mutations of the CHM gene in Chinese patients with choroideremia.
    Yip SP; Cheung TS; Chu MY; Cheung SC; Leung KW; Tsang KP; Lam ST; To CH
    Mol Vis; 2007 Nov; 13():2183-93. PubMed ID: 18087237
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Genetic and phenotypic characteristics of three Mainland Chinese families with choroideremia.
    Zhou Q; Liu L; Xu F; Li H; Sergeev Y; Dong F; Jiang R; MacDonald I; Sui R
    Mol Vis; 2012; 18():309-16. PubMed ID: 22355242
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A frameshift mutation in the CHM gene causes choroideremia with acute angle‑closure glaucoma.
    Ouyang P; Li Y; Zhang F; Zhu C; Zou B; Le J; Zhang L
    Mol Med Rep; 2018 Jun; 17(6):7918-7924. PubMed ID: 29620233
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Novel splice receptor-site mutation of RPGR in a Chinese family with X-linked retinitis pigmentosa.
    Wang J; Zhou C; Xiao Y; Liu H
    Medicine (Baltimore); 2018 Oct; 97(41):e12779. PubMed ID: 30313097
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Novel mutation in the choroideremia gene and multi-Mendelian phenotypes in Spanish families.
    de Castro-Miró M; Tonda R; Marfany G; Casaroli-Marano RP; Gonzàlez-Duarte R
    Br J Ophthalmol; 2018 Oct; 102(10):1378-1386. PubMed ID: 29367200
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mutations in the X-linked retinitis pigmentosa genes RPGR and RP2 found in 8.5% of families with a provisional diagnosis of autosomal dominant retinitis pigmentosa.
    Churchill JD; Bowne SJ; Sullivan LS; Lewis RA; Wheaton DK; Birch DG; Branham KE; Heckenlively JR; Daiger SP
    Invest Ophthalmol Vis Sci; 2013 Feb; 54(2):1411-6. PubMed ID: 23372056
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.