BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

283 related articles for article (PubMed ID: 18332318)

  • 21. The TGFBI A546D mutation causes an atypical type of lattice corneal dystrophy.
    Correa-Gomez V; Villalvazo-Cordero L; Zenteno JC
    Mol Vis; 2007 Sep; 13():1695-700. PubMed ID: 17893671
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Genotype-phenotype correlation in 2 Indian families with severe granular corneal dystrophy.
    Kannabiran C; Sridhar MS; Chakravarthi SK; Vemuganti GK; Lakshmipathi M
    Arch Ophthalmol; 2005 Aug; 123(8):1127-33. PubMed ID: 16087849
    [TBL] [Abstract][Full Text] [Related]  

  • 23. No pathogenic mutations identified in the TGFBI gene in polymorphic corneal amyloid deposition.
    Aldave AJ; Rayner SA; King JA; Salem AK; Prechanond A; Hashida S; Affeldt JC; Meallet MA; Glasgow BJ; Small KW; Yellore VS
    Cornea; 2006 May; 25(4):413-5. PubMed ID: 16670477
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Transforming growth factor beta-induced p.(L558P) variant is associated with autosomal dominant lattice corneal dystrophy type IV in a large cohort of Spanish patients.
    Campos-Mollo E; Varela-Conde Y; Arriola-Villalobos P; Cabrera-Beyrouti R; Benítez-Del-Castillo JM; Maldonado MJ; Escribano J
    Clin Exp Ophthalmol; 2019 Sep; 47(7):871-880. PubMed ID: 31056827
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Expanding the mutational spectrum in TGFBI-linked corneal dystrophies: Identification of a novel and unusual mutation (Val113Ile) in a family with granular dystrophy.
    Zenteno JC; Ramirez-Miranda A; Santacruz-Valdes C; Suarez-Sanchez R
    Mol Vis; 2006 Apr; 12():331-5. PubMed ID: 16636649
    [TBL] [Abstract][Full Text] [Related]  

  • 26. 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]  

  • 27. A novel missense
    Jaakkola AM; Järventausta PJ; Järvinen RS; Repo P; Kivelä TT; Turunen JA
    Eur J Ophthalmol; 2022 Jul; 32(4):NP61-NP66. PubMed ID: 33645289
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Heavy-chain amyloidosis in TGFBI-negative and gelsolin-negative atypical lattice corneal dystrophy.
    Pradhan MA; Henderson RA; Patel D; McGhee CN; Vincent AL
    Cornea; 2011 Oct; 30(10):1163-6. PubMed ID: 21743312
    [TBL] [Abstract][Full Text] [Related]  

  • 29. A novel phenotype-genotype correlation with an Arg555Trp mutation of TGFBI gene in Thiel-Behnke corneal dystrophy in a Chinese pedigree.
    Yu Y; Qiu P; Zhu Y; Li J; Wu M; Zhang B; Yao K
    BMC Ophthalmol; 2015 Oct; 15():131. PubMed ID: 26464103
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Protein Composition of TGFBI-R124C- and TGFBI-R555W-Associated Aggregates Suggests Multiple Mechanisms Leading to Lattice and Granular Corneal Dystrophy.
    Courtney DG; Poulsen ET; Kennedy S; Moore JE; Atkinson SD; Maurizi E; Nesbit MA; Moore CB; Enghild JJ
    Invest Ophthalmol Vis Sci; 2015 Jul; 56(8):4653-61. PubMed ID: 26207300
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Genotype-phenotype correlation of TGFBI corneal dystrophies in Polish patients.
    Nowińska AK; Wylegala E; Janiszewska DA; Dobrowolski D; Aragona P; Roszkowska AM; Puzzolo D
    Mol Vis; 2011; 17():2333-42. PubMed ID: 21921985
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Phenotype-genotype correlations in patients with TGFBI-linked corneal dystrophies in Taiwan.
    Hou YC; Wang IJ; Hsiao CH; Chen WL; Hu FR
    Mol Vis; 2012; 18():362-71. PubMed ID: 22355247
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Confirmation of association of
    Choo CH; Chung DD; Ledwitch KV; Kassels A; Meiler J; Aldave AJ
    Ophthalmic Genet; 2022 Aug; 43(4):530-533. PubMed ID: 35315300
    [TBL] [Abstract][Full Text] [Related]  

  • 34. TGFBI gene mutation in a Chinese pedigree with Reis-Bücklers corneal dystrophy.
    Liang Q; Sun X; Jin X
    Ophthalmic Physiol Opt; 2012 Jan; 32(1):74-80. PubMed ID: 21899585
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Late-onset form of lattice corneal dystrophy caused by leu527Arg mutation of the TGFBI gene.
    Hirano K; Hotta Y; Nakamura M; Fujiki K; Kanai A; Yamamoto N
    Cornea; 2001 Jul; 20(5):525-9. PubMed ID: 11413411
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Role of BIGH3 R124H mutation in the diagnosis of Avellino corneal dystrophy.
    Huerva V; Velasco A; Sanchez MC; Matias-Guiu X
    Eur J Ophthalmol; 2008; 18(3):345-50. PubMed ID: 18465714
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Double mutation (R124H, N544S) of TGFBI in two sisters with combined expression of Avellino and lattice corneal dystrophies.
    Yamada N; Kawamoto K; Morishige N; Chikama T; Nishida T; Nishioka M; Okayama N; Hinoda Y
    Mol Vis; 2009 May; 15():974-9. PubMed ID: 19461933
    [TBL] [Abstract][Full Text] [Related]  

  • 38. TGFBI gene mutation analysis in families with hereditary corneal dystrophies from Ukraine.
    Pampukha VM; Drozhyna GI; Livshits LA
    Ophthalmologica; 2004; 218(6):411-4. PubMed ID: 15564760
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Arg124Cys mutation of the TGFBI gene in 2 Chinese families with Thiel-Behnke corneal dystrophy.
    Chang L; Zhiqun W; Shijing D; Chen Z; Qingfeng L; Li L; Xuguang S
    Arch Ophthalmol; 2009 May; 127(5):641-4. PubMed ID: 19433713
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Post-LASIK exacerbation of granular corneal dystrophy type 2 in members of a chinese family.
    Chao-Shern C; Me R; DeDionisio LA; Ke BL; Nesbit MA; Marshall J; Moore CBT
    Eye (Lond); 2018 Jan; 32(1):39-43. PubMed ID: 29192679
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 15.