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.
25. 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]
26. 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]
27. Alport syndrome. Molecular genetic aspects. Hertz JM Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970 [TBL] [Abstract][Full Text] [Related]
28. Results of penetrating keratoplasty in CHED. Congenital hereditary endothelial dystrophy. Sajjadi H; Javadi MA; Hemmati R; Mirdeghan A; Parvin M; Nassiri N Cornea; 1995 Jan; 14(1):18-25. PubMed ID: 7712731 [TBL] [Abstract][Full Text] [Related]
29. Congenital stromal dystrophy of the cornea caused by a mutation in the decorin gene. Bredrup C; Knappskog PM; Majewski J; Rødahl E; Boman H Invest Ophthalmol Vis Sci; 2005 Feb; 46(2):420-6. PubMed ID: 15671264 [TBL] [Abstract][Full Text] [Related]
33. 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]
34. Harboyan syndrome with biallelic SLC4A11 pathogenic variants misdiagnosed as congenital CMV infection. Loveridge-Easther C; Kiray G; Hull S; Vincent AL Ophthalmic Genet; 2022 Oct; 43(5):685-688. PubMed ID: 35672901 [TBL] [Abstract][Full Text] [Related]
35. A corneal dystrophy associated with transforming growth factor beta-induced Gly623Asp mutation an amyloidogenic phenotype. Auw-Haedrich C; Agostini H; Clausen I; Reinhard T; Eberwein P; Schorderet DF; Gruenauer-Kloevekorn C Ophthalmology; 2009 Jan; 116(1):46-51. PubMed ID: 19019446 [TBL] [Abstract][Full Text] [Related]
36. Clinical and genetic features of TGFBI-linked corneal dystrophies in Mexican population: description of novel mutations and novel genotype-phenotype correlations. Zenteno JC; Correa-Gomez V; Santacruz-Valdez C; Suarez-Sanchez R; Villanueva-Mendoza C Exp Eye Res; 2009 Aug; 89(2):172-7. PubMed ID: 19303004 [TBL] [Abstract][Full Text] [Related]
37. 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]
38. Multifunctional ion transport properties of human SLC4A11: comparison of the SLC4A11-B and SLC4A11-C variants. Kao L; Azimov R; Shao XM; Frausto RF; Abuladze N; Newman D; Aldave AJ; Kurtz I Am J Physiol Cell Physiol; 2016 Nov; 311(5):C820-C830. PubMed ID: 27581649 [TBL] [Abstract][Full Text] [Related]
39. In vivo laser confocal microscopy findings for Bowman's layer dystrophies (Thiel-Behnke and Reis-Bücklers corneal dystrophies). Kobayashi A; Sugiyama K Ophthalmology; 2007 Jan; 114(1):69-75. PubMed ID: 17198850 [TBL] [Abstract][Full Text] [Related]
40. A biochemical framework for SLC4A11, the plasma membrane protein defective in corneal dystrophies. Vilas GL; Morgan PE; Loganathan SK; Quon A; Casey JR Biochemistry; 2011 Mar; 50(12):2157-69. PubMed ID: 21288032 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]