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 *

458 related articles for article (PubMed ID: 26786512)

  • 21. Autosomal dominant cornea plana is not associated with pathogenic mutations in DCN, DSPG3, FOXC1, KERA, LUM, or PITX2.
    Aldave AJ; Sonmez B; Bourla N; Schultz G; Papp JC; Salem AK; Rayner SA; Yellore VS
    Ophthalmic Genet; 2007 Jun; 28(2):57-67. PubMed ID: 17558846
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Molecular mechanisms of phenotypic variability in junctional epidermolysis bullosa.
    Kiritsi D; Kern JS; Schumann H; Kohlhase J; Has C; Bruckner-Tuderman L
    J Med Genet; 2011 Jul; 48(7):450-7. PubMed ID: 21357940
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Cycloheximide facilitates the identification of aberrant transcripts resulting from a novel splice-site mutation in COL17A1 in a patient with generalized atrophic benign epidermolysis bullosa.
    Darling TN; Yee C; Koh B; McGrath JA; Bauer JW; Uitto J; Hintner H; Yancey KB
    J Invest Dermatol; 1998 Feb; 110(2):165-9. PubMed ID: 9457913
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Analysis of the COL17A1 in non-Herlitz junctional epidermolysis bullosa and amelogenesis imperfecta.
    Nakamura H; Sawamura D; Goto M; Nakamura H; Kida M; Ariga T; Sakiyama Y; Tomizawa K; Mitsui H; Tamaki K; Shimizu H
    Int J Mol Med; 2006 Aug; 18(2):333-7. PubMed ID: 16820943
    [TBL] [Abstract][Full Text] [Related]  

  • 25. 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]  

  • 26. Clinical and genetic profile of Avellino corneal dystrophy in 2 families from north India.
    Paliwal P; Gupta J; Tandon R; Sharma A; Vajpayee RB
    Arch Ophthalmol; 2009 Oct; 127(10):1373-6. PubMed ID: 19822856
    [TBL] [Abstract][Full Text] [Related]  

  • 27. 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]  

  • 28. 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]  

  • 29. Genetic linkage studies of a North Carolina macular dystrophy family.
    Audere M; Rutka K; Inaskina I; Peculis R; Sepetiene S; Valeina S; Lāce B
    Medicina (Kaunas); 2016; 52(3):180-6. PubMed ID: 27496188
    [TBL] [Abstract][Full Text] [Related]  

  • 30. IC3D Classification of Corneal Dystrophies-Edition 3.
    Weiss JS; Rapuano CJ; Seitz B; Busin M; Kivelä TT; Bouheraoua N; Bredrup C; Nischal KK; Chawla H; Borderie V; Kenyon KR; Kim EK; Møller HU; Munier FL; Berger T; Lisch W
    Cornea; 2024 Apr; 43(4):466-527. PubMed ID: 38359414
    [TBL] [Abstract][Full Text] [Related]  

  • 31. [Mutations in the keratin gene as a cause of Meesman-Wilke corneal dystrophy and autosomal dominant skin cornification disorders].
    Swensson O; Swensson B; Nölle B; Rochels R; Wannke B; Thiel HJ
    Klin Monbl Augenheilkd; 2000 Jul; 217(1):43-51. PubMed ID: 10949816
    [TBL] [Abstract][Full Text] [Related]  

  • 32. [Recurrent Corneal Erosions in Epithelial Corneal Dystrophies].
    Geerling G; Lisch W; Finis D
    Klin Monbl Augenheilkd; 2018 Jun; 235(6):697-701. PubMed ID: 29895083
    [TBL] [Abstract][Full Text] [Related]  

  • 33. 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]  

  • 34. A founder COL17A1 splice site mutation leading to generalized atrophic benign epidermolysis bullosa in an extended inbred Palestinian family from Israel.
    Whittock NV; Sher C; Gold I; Libman V; Reish O
    Genet Med; 2003; 5(6):435-9. PubMed ID: 14614394
    [TBL] [Abstract][Full Text] [Related]  

  • 35. [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]  

  • 36. Punctiform and Polychromatic Pre-Descemet Corneal Dystrophy: Clinical Evaluation and Identification of the Genetic Basis.
    Alió Del Barrio JL; Chung DD; Al-Shymali O; Barrington A; Jatavallabhula K; Swamy VS; Yébana P; Angélica Henríquez-Recine M; Boto-de-Los-Bueis A; Alió JL; Aldave AJ
    Am J Ophthalmol; 2020 Apr; 212():88-97. PubMed ID: 31782998
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Mutation in TMEM98 in a large white kindred with autosomal dominant nanophthalmos linked to 17p12-q12.
    Awadalla MS; Burdon KP; Souzeau E; Landers J; Hewitt AW; Sharma S; Craig JE
    JAMA Ophthalmol; 2014 Aug; 132(8):970-7. PubMed ID: 24852644
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Analysis of fifteen positional candidate genes for Schnyder crystalline corneal dystrophy.
    Aldave AJ; Rayner SA; Principe AH; Affeldt JA; Katsev D; Yellore VS
    Mol Vis; 2005 Sep; 11():713-6. PubMed ID: 16163269
    [TBL] [Abstract][Full Text] [Related]  

  • 39. A new corneal disease with recurrent erosive episodes and autosomal-dominant inheritance.
    Hammar B; Björck E; Lagerstedt K; Dellby A; Fagerholm P
    Acta Ophthalmol; 2008 Nov; 86(7):758-63. PubMed ID: 18778339
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Novel mutation in the CHST6 gene causes macular corneal dystrophy in a black South African family.
    Carstens N; Williams S; Goolam S; Carmichael T; Cheung MS; Büchmann-Møller S; Sultan M; Staedtler F; Zou C; Swart P; Rice DS; Lacoste A; Paes K; Ramsay M
    BMC Med Genet; 2016 Jul; 17(1):47. PubMed ID: 27439461
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 23.