215 related articles for article (PubMed ID: 9930165)
1. A novel mutation at codon 124 (R124L) in the BIGH3 gene is associated with a superficial variant of granular corneal dystrophy.
Mashima Y; Nakamura Y; Noda K; Konishi M; Yamada M; Kudoh J; Shimizu N
Arch Ophthalmol; 1999 Jan; 117(1):90-3. PubMed ID: 9930165
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Survey of patients with granular, lattice, avellino, and Reis-Bücklers corneal dystrophies for mutations in the BIGH3 and gelsolin genes.
Afshari NA; Mullally JE; Afshari MA; Steinert RF; Adamis AP; Azar DT; Talamo JH; Dohlman CH; Dryja TP
Arch Ophthalmol; 2001 Jan; 119(1):16-22. PubMed ID: 11146721
[TBL] [Abstract][Full Text] [Related]
4. New histopathologic and ultrastructural findings in Reis-Bücklers corneal dystrophy caused by the Arg124Leu mutation of TGFBI gene.
Qiu WY; Zheng LB; Pan F; Wang BB; Yao YF
BMC Ophthalmol; 2016 Sep; 16(1):158. PubMed ID: 27590038
[TBL] [Abstract][Full Text] [Related]
5. Clinical, histologic, and ultrastructural features of the corneal dystrophy caused by the R124L mutation of the BIGH3 gene.
Dighiero P; Valleix S; D'Hermies F; Drunat S; Ellies P; Savoldelli M; Pouliquen Y; Delpech M; Legeais JM; Renard G
Ophthalmology; 2000 Jul; 107(7):1353-7. PubMed ID: 10889112
[TBL] [Abstract][Full Text] [Related]
6. The classic form of granular corneal dystrophy associated with R555W mutation in the BIGH3 gene is rare in Japanese patients.
Konishi M; Mashima Y; Yamada M; Kudoh J; Shimizu N
Am J Ophthalmol; 1998 Sep; 126(3):450-2. PubMed ID: 9744382
[TBL] [Abstract][Full Text] [Related]
7. Varied appearance of cornea of patients with corneal dystrophy associated with R124H mutation in the BIGH3 gene.
Konishi M; Yamada M; Nakamura Y; Mashima Y
Cornea; 1999 Jul; 18(4):424-9. PubMed ID: 10422854
[TBL] [Abstract][Full Text] [Related]
8. Immunohistology of kerato-epithelin in corneal stromal dystrophies associated with R124 mutations of the BIGH3 gene.
Konishi M; Yamada M; Nakamura Y; Mashima Y
Curr Eye Res; 2000 Nov; 21(5):891-6. PubMed ID: 11262611
[TBL] [Abstract][Full Text] [Related]
9. Severe corneal dystrophy phenotype caused by homozygous R124H keratoepithelin mutations.
Okada M; Yamamoto S; Inoue Y; Watanabe H; Maeda N; Shimomura Y; Ishii Y; Tano Y
Invest Ophthalmol Vis Sci; 1998 Sep; 39(10):1947-53. PubMed ID: 9727418
[TBL] [Abstract][Full Text] [Related]
10. BIGH3 gene analysis in the differential diagnosis of corneal dystrophies.
Kocak-Altintas AG; Kocak-Midillioglu I; Akarsu AN; Duman S
Cornea; 2001 Jan; 20(1):64-8. PubMed ID: 11189007
[TBL] [Abstract][Full Text] [Related]
11. A novel phenotype-genotype relationship with a TGFBI exon 14 mutation in a pedigree with a unique corneal dystrophy of Bowman's layer.
Wheeldon CE; de Karolyi BH; Patel DV; Sherwin T; McGhee CN; Vincent AL
Mol Vis; 2008 Aug; 14():1503-12. PubMed ID: 18728790
[TBL] [Abstract][Full Text] [Related]
12. Spontaneous and inheritable R555Q mutation in the TGFBI/BIGH3 gene in two unrelated families exhibiting Bowman's layer corneal dystrophy.
Zhao XC; Nakamura H; Subramanyam S; Stock LE; Gillette TE; Yoshikawa S; Ma X; Yee RW
Ophthalmology; 2007 Nov; 114(11):e39-46. PubMed ID: 17980739
[TBL] [Abstract][Full Text] [Related]
13. A novel variant of granular corneal dystrophy caused by association of 2 mutations in the TGFBI gene-R124L and DeltaT125-DeltaE126.
Dighiero P; Drunat S; D'Hermies F; Renard G; Delpech M; Valleix S
Arch Ophthalmol; 2000 Jun; 118(6):814-8. PubMed ID: 10865320
[TBL] [Abstract][Full Text] [Related]
14. TGFBI (BIGH3) gene mutations in Hungary--report of the novel F547S mutation associated with polymorphic corneal amyloidosis.
Takács L; Losonczy G; Matesz K; Balogh I; Sohajda Z; Tóth K; Fazakas F; Vereb G; Berta A
Mol Vis; 2007 Oct; 13():1976-83. PubMed ID: 17982422
[TBL] [Abstract][Full Text] [Related]
15. Granular corneal dystrophy with homozygous mutations in the kerato-epithelin gene.
Okada M; Yamamoto S; Watanabe H; Inoue Y; Tsujikawa M; Maeda N; Shimomura Y; Nishida K; Kinoshita S; Tano Y
Am J Ophthalmol; 1998 Aug; 126(2):169-76. PubMed ID: 9727509
[TBL] [Abstract][Full Text] [Related]
16. [Analysis of gene mutation in Chinese patients with Reis-Bücklers corneal dystrophy].
Tian X; Liu ZG; Li Q; Li B; Wang W; Xie PY; Fujiki K; Murakami A; Kanai A
Zhonghua Yan Ke Za Zhi; 2005 Mar; 41(3):239-42. PubMed ID: 15840366
[TBL] [Abstract][Full Text] [Related]
17. An autosomal dominant granular corneal dystrophy family associated with R555W mutation in the BIGH3 gene.
Hou YC; Hu FR; Chen MS
J Formos Med Assoc; 2003 Feb; 102(2):117-20. PubMed ID: 12709742
[TBL] [Abstract][Full Text] [Related]
18. [Analysis of mutation of BIGH3 gene in Chinese patients with corneal dystrophies].
Yu J; Zou LH; He JC; Liu NP; Zhang W; Lu L; Sun XG; Dong DS; Wu YY; Yin XT
Zhonghua Yan Ke Za Zhi; 2003 Oct; 39(10):582-6. PubMed ID: 14766070
[TBL] [Abstract][Full Text] [Related]
19. Ultrastructural and molecular analysis of Bowman's layer corneal dystrophies: an epithelial origin?
Ridgway AE; Akhtar S; Munier FL; Schorderet DF; Stewart H; Perveen R; Bonshek RE; Odenthal MT; Dixon M; Barraquer R; Escoto R; Black GC
Invest Ophthalmol Vis Sci; 2000 Oct; 41(11):3286-92. PubMed ID: 11006215
[TBL] [Abstract][Full Text] [Related]
20. A mutation within exon 14 of the TGFBI (BIGH3) gene on chromosome 5q31 causes an asymmetric, late-onset form of lattice corneal dystrophy.
Stewart H; Black GC; Donnai D; Bonshek RE; McCarthy J; Morgan S; Dixon MJ; Ridgway AA
Ophthalmology; 1999 May; 106(5):964-70. PubMed ID: 10328397
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
