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 *

166 related articles for article (PubMed ID: 17262014)

  • 1. Genetic analysis of two Indian families affected with congenital hereditary endothelial dystrophy: two novel mutations in SLC4A11.
    Kumar A; Bhattacharjee S; Prakash DR; Sadanand CS
    Mol Vis; 2007 Jan; 13():39-46. PubMed ID: 17262014
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Missense mutation in SLC4A11 in two Pakistani families affected with congenital hereditary endothelial dystrophy (CHED2).
    Kaul H; Suman M; Khan Z; Ullah MI; Ashfaq UA; Idrees S
    Clin Exp Optom; 2016 Jan; 99(1):73-7. PubMed ID: 26286922
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mutation analysis of the SLC4A11 gene in Indian families with congenital hereditary endothelial dystrophy 2 and a review of the literature.
    Kodaganur SG; Kapoor S; Veerappa AM; Tontanahal SJ; Sarda A; Yathish S; Prakash DR; Kumar A
    Mol Vis; 2013; 19():1694-706. PubMed ID: 23922488
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Identification of mutations in the SLC4A11 gene in patients with recessive congenital hereditary endothelial dystrophy.
    Hemadevi B; Veitia RA; Srinivasan M; Arunkumar J; Prajna NV; Lesaffre C; Sundaresan P
    Arch Ophthalmol; 2008 May; 126(5):700-8. PubMed ID: 18474783
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Congenital hereditary endothelial dystrophy - mutation analysis of SLC4A11 and genotype-phenotype correlation in a North Indian patient cohort.
    Paliwal P; Sharma A; Tandon R; Sharma N; Titiyal JS; Sen S; Nag TC; Vajpayee RB
    Mol Vis; 2010 Dec; 16():2955-63. PubMed ID: 21203343
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Mutational spectrum of the SLC4A11 gene in autosomal recessive congenital hereditary endothelial dystrophy.
    Sultana A; Garg P; Ramamurthy B; Vemuganti GK; Kannabiran C
    Mol Vis; 2007 Jul; 13():1327-32. PubMed ID: 17679935
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Fuchs Endothelial Corneal Dystrophy in a Heterozygous Carrier of Congenital Hereditary Endothelial Dystrophy Type 2 with a Novel Mutation in SLC4A11.
    Kim JH; Ko JM; Tchah H
    Ophthalmic Genet; 2015; 36(3):284-6. PubMed ID: 24502824
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Coexistence of Congenital Hereditary Endothelial Dystrophy and Fuchs Endothelial Corneal Dystrophy Associated With SLC4A11 Mutations in Affected Families.
    Chaurasia S; Ramappa M; Annapurna M; Kannabiran C
    Cornea; 2020 Mar; 39(3):354-357. PubMed ID: 31714402
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Exome Sequencing Reveals
    Yousaf K; Naz S; Mushtaq A; Wohler E; Sobreira N; Ho BM; Chen LJ; Chu WK; Bashir R
    Genes (Basel); 2023 Jan; 14(2):. PubMed ID: 36833236
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Autosomal recessive CHED associated with novel compound heterozygous mutations in SLC4A11.
    Aldave AJ; Yellore VS; Bourla N; Momi RS; Khan MA; Salem AK; Rayner SA; Glasgow BJ; Kurtz I
    Cornea; 2007 Aug; 26(7):896-900. PubMed ID: 17667634
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2).
    Vithana EN; Morgan P; Sundaresan P; Ebenezer ND; Tan DT; Mohamed MD; Anand S; Khine KO; Venkataraman D; Yong VH; Salto-Tellez M; Venkatraman A; Guo K; Hemadevi B; Srinivasan M; Prajna V; Khine M; Casey JR; Inglehearn CF; Aung T
    Nat Genet; 2006 Jul; 38(7):755-7. PubMed ID: 16767101
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Oligomerization of SLC4A11 protein and the severity of FECD and CHED2 corneal dystrophies caused by SLC4A11 mutations.
    Vilas GL; Loganathan SK; Quon A; Sundaresan P; Vithana EN; Casey J
    Hum Mutat; 2012 Feb; 33(2):419-28. PubMed ID: 22072594
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. SLC4A11 mutations in Fuchs endothelial corneal dystrophy.
    Vithana EN; Morgan PE; Ramprasad V; Tan DT; Yong VH; Venkataraman D; Venkatraman A; Yam GH; Nagasamy S; Law RW; Rajagopal R; Pang CP; Kumaramanickevel G; Casey JR; Aung T
    Hum Mol Genet; 2008 Mar; 17(5):656-66. PubMed ID: 18024964
    [TBL] [Abstract][Full Text] [Related]  

  • 18. SLC4A11 mutations causative of congenital hereditary endothelial dystrophy (CHED) progressing to Harboyan syndrome in consanguineous Pakistani families.
    Firasat S; Dur-E-Shawar ; Khan WA; Sughra U; Nousheen ; Kaul H; Naz S; Noreen B; Gul R; Afshan K
    Mol Biol Rep; 2021 Nov; 48(11):7467-7476. PubMed ID: 34637099
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 9.