BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

117 related articles for article (PubMed ID: 21423868)

  • 1. Genetic and genomic analysis of classic aniridia in Saudi Arabia.
    Khan AO; Aldahmesh MA; Alkuraya FS
    Mol Vis; 2011 Mar; 17():708-14. PubMed ID: 21423868
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Molecular characterization of newborn glaucoma including a distinct aniridic phenotype.
    Khan AO; Aldahmesh MA; Al-Abdi L; Mohamed JY; Hashem M; Al-Ghamdi I; Alkuraya FS
    Ophthalmic Genet; 2011 Sep; 32(3):138-42. PubMed ID: 21306220
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Comparison between aniridia with and without PAX6 mutations: clinical and molecular analysis in 14 Korean patients with aniridia.
    Lim HT; Seo EJ; Kim GH; Ahn H; Lee HJ; Shin KH; Lee JK; Yoo HW
    Ophthalmology; 2012 Jun; 119(6):1258-64. PubMed ID: 22361317
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Mutational analysis and genotype-phenotype correlations in southern Indian patients with sporadic and familial aniridia.
    Dubey SK; Mahalaxmi N; Vijayalakshmi P; Sundaresan P
    Mol Vis; 2015; 21():88-97. PubMed ID: 25678763
    [TBL] [Abstract][Full Text] [Related]  

  • 5. PAX6 analysis of two unrelated families from the Arabian Peninsula with classic hereditary aniridia.
    Khan AO; Aldahmesh MA
    Ophthalmic Genet; 2008 Sep; 29(3):145-8. PubMed ID: 18766996
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Molecular characterization of Axenfeld-Rieger spectrum and other anterior segment dysgeneses in a sample of Mexican patients.
    Hernández-Martínez N; González-Del Angel A; Alcántara-Ortigoza MA; González-Huerta LM; Cuevas-Covarrubias SA; Villanueva-Mendoza C
    Ophthalmic Genet; 2018 Dec; 39(6):728-734. PubMed ID: 30457409
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Identification of dominant FOXE3 and PAX6 mutations in patients with congenital cataract and aniridia.
    Brémond-Gignac D; Bitoun P; Reis LM; Copin H; Murray JC; Semina EV
    Mol Vis; 2010 Aug; 16():1705-11. PubMed ID: 20806047
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Three new PAX6 mutations including one causing an unusual ophthalmic phenotype associated with neurodevelopmental abnormalities.
    Dansault A; David G; Schwartz C; Jaliffa C; Vieira V; de la Houssaye G; Bigot K; Catin F; Tattu L; Chopin C; Halimi P; Roche O; Van Regemorter N; Munier F; Schorderet D; Dufier JL; Marsac C; Ricquier D; Menasche M; Penfornis A; Abitbol M
    Mol Vis; 2007 Apr; 13():511-23. PubMed ID: 17417613
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A 556 kb deletion in the downstream region of the PAX6 gene causes familial aniridia and other eye anomalies in a Chinese family.
    Cheng F; Song W; Kang Y; Yu S; Yuan H
    Mol Vis; 2011 Feb; 17():448-55. PubMed ID: 21321669
    [TBL] [Abstract][Full Text] [Related]  

  • 10. PAX6 aniridia and interhemispheric brain anomalies.
    Abouzeid H; Youssef MA; ElShakankiri N; Hauser P; Munier FL; Schorderet DF
    Mol Vis; 2009 Oct; 15():2074-83. PubMed ID: 19862335
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Correlation of novel PAX6 gene abnormalities in aniridia and clinical presentation.
    Sannan NS; Gregory-Evans CY; Lyons CJ; Lehman AM; Langlois S; Warner SJ; Zakrzewski H; Gregory-Evans K
    Can J Ophthalmol; 2017 Dec; 52(6):570-577. PubMed ID: 29217025
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome.
    Ansari M; Rainger J; Hanson IM; Williamson KA; Sharkey F; Harewood L; Sandilands A; Clayton-Smith J; Dollfus H; Bitoun P; Meire F; Fantes J; Franco B; Lorenz B; Taylor DS; Stewart F; Willoughby CE; McEntagart M; Khaw PT; Clericuzio C; Van Maldergem L; Williams D; Newbury-Ecob R; Traboulsi EI; Silva ED; Madlom MM; Goudie DR; Fleck BW; Wieczorek D; Kohlhase J; McTrusty AD; Gardiner C; Yale C; Moore AT; Russell-Eggitt I; Islam L; Lees M; Beales PL; Tuft SJ; Solano JB; Splitt M; Hertz JM; Prescott TE; Shears DJ; Nischal KK; Doco-Fenzy M; Prieur F; Temple IK; Lachlan KL; Damante G; Morrison DA; van Heyningen V; FitzPatrick DR
    PLoS One; 2016; 11(4):e0153757. PubMed ID: 27124303
    [TBL] [Abstract][Full Text] [Related]  

  • 13. PAX6 3' deletion in a family with aniridia.
    Wawrocka A; Budny B; Debicki S; Jamsheer A; Sowinska A; Krawczynski MR
    Ophthalmic Genet; 2012 Mar; 33(1):44-8. PubMed ID: 21985185
    [TBL] [Abstract][Full Text] [Related]  

  • 14. PAX6 gene variations associated with aniridia in south India.
    Neethirajan G; Krishnadas SR; Vijayalakshmi P; Shashikant S; Sundaresan P
    BMC Med Genet; 2004 Apr; 5():9. PubMed ID: 15086958
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A deletion 3' to the PAX6 gene in familial aniridia cases.
    D'Elia AV; Pellizzari L; Fabbro D; Pianta A; Divizia MT; Rinaldi R; Grammatico B; Grammatico P; Arduino C; Damante G
    Mol Vis; 2007 Jul; 13():1245-50. PubMed ID: 17679951
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Multiplex ligation-dependent probe amplification (MLPA) enhances the molecular diagnosis of aniridia and related disorders.
    Redeker EJ; de Visser AS; Bergen AA; Mannens MM
    Mol Vis; 2008 May; 14():836-40. PubMed ID: 18483559
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Two Paired Box 6 mutations identified in Chinese patients with classic congenital aniridia and cataract.
    Lin Y; Gao H; Zhu Y; Chen C; Li T; Liu B; Lyu C; Huang Y; Li H; Wu Q; Jin C; Liang X; Huang X; Lu L
    Mol Med Rep; 2018 Nov; 18(5):4439-4445. PubMed ID: 30221735
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A Novel Homozygous Mutation in FOXC1 Causes Axenfeld Rieger Syndrome with Congenital Glaucoma.
    Micheal S; Siddiqui SN; Zafar SN; Villanueva-Mendoza C; Cortés-González V; Khan MI; den Hollander AI
    PLoS One; 2016; 11(7):e0160016. PubMed ID: 27463523
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A novel PAX6 gene mutation (P118R) in a family with congenital nystagmus associated with a variant form of aniridia.
    Sonoda S; Isashiki Y; Tabata Y; Kimura K; Kakiuchi T; Ohba N
    Graefes Arch Clin Exp Ophthalmol; 2000 Jul; 238(7):552-8. PubMed ID: 10955655
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridia.
    Robinson DO; Howarth RJ; Williamson KA; van Heyningen V; Beal SJ; Crolla JA
    Am J Med Genet A; 2008 Mar; 146A(5):558-69. PubMed ID: 18241071
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.