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 *

131 related articles for article (PubMed ID: 23615275)

  • 21. Mutation in the SLC4A11 gene associated with autosomal recessive congenital hereditary endothelial dystrophy in a large Saudi family.
    Shah SS; Al-Rajhi A; Brandt JD; Mannis MJ; Roos B; Sheffield VC; Syed NA; Stone EM; Fingert JH
    Ophthalmic Genet; 2008 Mar; 29(1):41-5. PubMed ID: 18363173
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Novel SLC4A11 mutations in patients with recessive congenital hereditary endothelial dystrophy (CHED2). Mutation in brief #958. Online.
    Ramprasad VL; Ebenezer ND; Aung T; Rajagopal R; Yong VH; Tuft SJ; Viswanathan D; El-Ashry MF; Liskova P; Tan DT; Bhattacharya SS; Kumaramanickavel G; Vithana EN
    Hum Mutat; 2007 May; 28(5):522-3. PubMed ID: 17397048
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Delayed onset of congenital hereditary endothelial dystrophy due to compound heterozygous SLC4A11 mutations.
    Kumawat BL; Gupta R; Sharma A; Sen S; Gupta S; Tandon R
    Indian J Ophthalmol; 2016 Jul; 64(7):492-5. PubMed ID: 27609159
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Genetic screen of African Americans with Fuchs endothelial corneal dystrophy.
    Minear MA; Li YJ; Rimmler J; Balajonda E; Watson S; Allingham RR; Hauser MA; Klintworth GK; Afshari NA; Gregory SG
    Mol Vis; 2013; 19():2508-16. PubMed ID: 24348007
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy.
    Desir J; Moya G; Reish O; Van Regemorter N; Deconinck H; David KL; Meire FM; Abramowicz MJ
    J Med Genet; 2007 May; 44(5):322-6. PubMed ID: 17220209
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Autosomal recessive corneal endothelial dystrophy (CHED2) is associated with mutations in SLC4A11.
    Jiao X; Sultana A; Garg P; Ramamurthy B; Vemuganti GK; Gangopadhyay N; Hejtmancik JF; Kannabiran C
    J Med Genet; 2007 Jan; 44(1):64-8. PubMed ID: 16825429
    [TBL] [Abstract][Full Text] [Related]  

  • 27. [Mutational analysis of VSX-1 in one patient with posterior polymorphous corneal dystrophy and in three families with hereditary Fuchs endothelial dystrophy].
    Clausen I; Weidle E; Duncker G; Grünauer-Kloevekorn C
    Klin Monbl Augenheilkd; 2009 Jun; 226(6):466-9. PubMed ID: 19507099
    [TBL] [Abstract][Full Text] [Related]  

  • 28. CTG18.1 Expansion is the Best Classifier of Late-Onset Fuchs' Corneal Dystrophy Among 10 Biomarkers in a Cohort From the European Part of Russia.
    Skorodumova LO; Belodedova AV; Antonova OP; Sharova EI; Akopian TA; Selezneva OV; Kostryukova ES; Malyugin BE
    Invest Ophthalmol Vis Sci; 2018 Sep; 59(11):4748-4754. PubMed ID: 30267097
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Screening of the COL8A2 gene in an Australian family with early-onset Fuchs' endothelial corneal dystrophy.
    Kuot A; Mills R; Craig JE; Sharma S; Burdon KP
    Clin Exp Ophthalmol; 2014 Mar; 42(2):198-200. PubMed ID: 23601356
    [No Abstract]   [Full Text] [Related]  

  • 30. Mutational spectrum of SLC4A11 in autosomal recessive CHED in Saudi Arabia.
    Aldahmesh MA; Khan AO; Meyer BF; Alkuraya FS
    Invest Ophthalmol Vis Sci; 2009 Sep; 50(9):4142-5. PubMed ID: 19369245
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Congenital Corneal Endothelial Dystrophies Resulting From Novel De Novo Mutations.
    Cunnusamy K; Bowman CB; Beebe W; Gong X; Hogan RN; Mootha VV
    Cornea; 2016 Feb; 35(2):281-5. PubMed ID: 26619383
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Update on the genetics of corneal endothelial dystrophies.
    Kannabiran C; Chaurasia S; Ramappa M; Mootha VV
    Indian J Ophthalmol; 2022 Jul; 70(7):2239-2248. PubMed ID: 35791103
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Exclusion of COL8A1, the gene encoding the alpha2(VIII) chain of type VIII collagen, as a candidate for Fuchs endothelial dystrophy and posterior polymorphous corneal dystrophy.
    Urquhart JE; Biswas S; Black GC; Munier FL; Sutphin J
    Br J Ophthalmol; 2006 Nov; 90(11):1430-1. PubMed ID: 17057173
    [No Abstract]   [Full Text] [Related]  

  • 34. Homozygous SLC4A11 mutation in a large Irish CHED2 pedigree.
    Hand CK; McGuire M; Parfrey NA; Murphy CC
    Ophthalmic Genet; 2017; 38(2):148-151. PubMed ID: 27057589
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Novel human pathological mutations. Gene symbol: SLC4A11. Disease: Corneal endothelial dystrophy 2.
    Chai SM; Vithana EN; Venkataraman D; Saleh H; Chekkalichintavida NP; al-Sayyed F; Aung T
    Hum Genet; 2010 Jan; 127(1):110. PubMed ID: 20108384
    [No Abstract]   [Full Text] [Related]  

  • 36. Congenital hereditary endothelial dystrophy caused by SLC4A11 mutations progresses to Harboyan syndrome.
    Siddiqui S; Zenteno JC; Rice A; Chacón-Camacho O; Naylor SG; Rivera-de la Parra D; Spokes DM; James N; Toomes C; Inglehearn CF; Ali M
    Cornea; 2014 Mar; 33(3):247-51. PubMed ID: 24351571
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Corneal dystrophy-causing SLC4A11 mutants: suitability for folding-correction therapy.
    Loganathan SK; Casey JR
    Hum Mutat; 2014 Sep; 35(9):1082-91. PubMed ID: 24916015
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Absence of phenotype-genotype correlation of patients expressing mutations in the SLC4A11 gene.
    Mehta JS; Hemadevi B; Vithana EN; Arunkumar J; Srinivasan M; Prajna V; Tan DT; Aung T; Sundaresan P
    Cornea; 2010 Mar; 29(3):302-6. PubMed ID: 20118786
    [TBL] [Abstract][Full Text] [Related]  

  • 39. SLC4A11 and the Pathophysiology of Congenital Hereditary Endothelial Dystrophy.
    Patel SP; Parker MD
    Biomed Res Int; 2015; 2015():475392. PubMed ID: 26451371
    [TBL] [Abstract][Full Text] [Related]  

  • 40. No pathogenic mutations identified in the COL8A1 and COL8A2 genes in familial Fuchs corneal dystrophy.
    Aldave AJ; Rayner SA; Salem AK; Yoo GL; Kim BT; Saeedian M; Sonmez B; Yellore VS
    Invest Ophthalmol Vis Sci; 2006 Sep; 47(9):3787-90. PubMed ID: 16936088
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 7.