128 related articles for article (PubMed ID: 33039949)
1. The morphogenesis of granular and lattice corneal dystrophy - A mutation combination hypothesis.
Sabir M
Med Hypotheses; 2020 Dec; 145():110291. PubMed ID: 33039949
[TBL] [Abstract][Full Text] [Related]
2. [Identification of BIGH3 gene mutations in the patients with two types of corneal dystrophies].
Jin T; Zou LH; Yang L; Dong WL; Yu J; Lu L
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2004 Feb; 21(1):32-4. PubMed ID: 14767905
[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. [Molecular genetic analysis of the BIGH3 gene in lattice type I (Biber-Haab-Dimmer) and granular type II (Avellino) corneal dystrophy: is indirect mutation analysis for hot spots recommended?].
Grünauer-Kloevekorn C; Bräutigam S; Wolter-Roessler M; Tost F; Weidle E; Froster U; Duncker GI
Klin Monbl Augenheilkd; 2005 Dec; 222(12):1017-23. PubMed ID: 16380889
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. [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]
7. 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]
8. Analysis of human transforming growth factor beta-induced gene mutation in corneal dystrophy.
Li Y; Sun XG; Ren HY; Dong B; Wang ZQ; Sun XY
Chin Med J (Engl); 2004 Sep; 117(9):1418-21. PubMed ID: 15377440
[TBL] [Abstract][Full Text] [Related]
9. De novo mutation in the BIGH3/TGFB1 gene causing granular corneal dystrophy.
Hilton EN; Black GC; Manson FD; Schorderet DF; Munier FL
Br J Ophthalmol; 2007 Aug; 91(8):1083-4. PubMed ID: 17638818
[No Abstract] [Full Text] [Related]
10. 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]
11. Association of autosomal dominantly inherited corneal dystrophies with BIGH3 gene mutations in Japan.
Mashima Y; Yamamoto S; Inoue Y; Yamada M; Konishi M; Watanabe H; Maeda N; Shimomura Y; Kinoshita S
Am J Ophthalmol; 2000 Oct; 130(4):516-7. PubMed ID: 11024425
[TBL] [Abstract][Full Text] [Related]
12. Clinical outcome of eight BIGH3-linked corneal dystrophies.
Ellies P; Renard G; Valleix S; Boelle PY; Dighiero P
Ophthalmology; 2002 Apr; 109(4):793-7. PubMed ID: 11927442
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. BIGH3 exon 14 mutations lead to intermediate type I/IIIA of lattice corneal dystrophies.
Schmitt-Bernard CF; Guittard C; Arnaud B; Demaille J; Argiles A; Claustres M; Tuffery-Giraud S
Invest Ophthalmol Vis Sci; 2000 May; 41(6):1302-8. PubMed ID: 10798644
[TBL] [Abstract][Full Text] [Related]
15. A clinical and molecular genetic study of autosomal-dominant stromal corneal dystrophy in British population.
El-Ashry MF; Abd El-Aziz MM; Hardcastle AJ; Bhattacharya SS; Ebenezer ND
Ophthalmic Res; 2005; 37(6):310-7. PubMed ID: 16118514
[TBL] [Abstract][Full Text] [Related]
16. An analysis of BIGH3 mutations in patients with corneal dystrophies in the Kyushu district of Japan.
Yoshida S; Kumano Y; Yoshida A; Hisatomi T; Matsui H; Nishida T; Ishibashi T; Matsui T
Jpn J Ophthalmol; 2002; 46(4):469-71. PubMed ID: 12225829
[TBL] [Abstract][Full Text] [Related]
17. [Early recurrence of Groenouw type I corneal dystrophy after phototherapeutic keratectomy. Molecular biology study suggests epithelial genesis].
Chiambaretta F; Pilon F; Deriot JB; Gerard M; Couleangon ML; Schorderet DF; Kemeny JL; Dastugue B; Creveaux I; Rigal D
J Fr Ophtalmol; 2004 May; 27(5):449-56. PubMed ID: 15179300
[TBL] [Abstract][Full Text] [Related]
18. A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3.
Boutboul S; Black GC; Moore JE; Sinton J; Menasche M; Munier FL; Laroche L; Abitbol M; Schorderet DF
Hum Mutat; 2006 Jun; 27(6):553-7. PubMed ID: 16652336
[TBL] [Abstract][Full Text] [Related]
19. Systemic investigation of keratoepithelin deposits in TGFBI/BIGH3-related corneal dystrophy.
El Kochairi I; Letovanec I; Uffer S; Munier FL; Chaubert P; Schorderet DF
Mol Vis; 2006 May; 12():461-6. PubMed ID: 16710170
[TBL] [Abstract][Full Text] [Related]
20. BIGH3 gene mutations and rapid detection in Korean patients with corneal dystrophy.
Kim HS; Yoon SK; Cho BJ; Kim EK; Joo CK
Cornea; 2001 Nov; 20(8):844-9. PubMed ID: 11685063
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
