BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

133 related articles for article (PubMed ID: 34243981)

  • 1. Genetics and epidemiology of aniridia: Updated guidelines for genetic study.
    Blanco-Kelly F; Tarilonte M; Villamar M; Damián A; Tamayo A; Moreno-Pelayo MA; Ayuso C; Cortón M
    Arch Soc Esp Oftalmol (Engl Ed); 2021 Jul; ():. PubMed ID: 34243981
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Genetics and epidemiology of aniridia: Updated guidelines for genetic study.
    Blanco-Kelly F; Tarilonte M; Villamar M; Damián A; Tamayo A; Moreno-Pelayo MA; Ayuso C; Cortón M
    Arch Soc Esp Oftalmol (Engl Ed); 2021 Nov; 96 Suppl 1():4-14. PubMed ID: 34836588
    [TBL] [Abstract][Full Text] [Related]  

  • 3. The genetic architecture of aniridia and Gillespie syndrome.
    Hall HN; Williamson KA; FitzPatrick DR
    Hum Genet; 2019 Sep; 138(8-9):881-898. PubMed ID: 30242502
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Molecular analysis of patients with aniridia in Russian Federation broadens the spectrum of PAX6 mutations.
    Vasilyeva TA; Voskresenskaya AA; Käsmann-Kellner B; Khlebnikova OV; Pozdeyeva NA; Bayazutdinova GM; Kutsev SI; Ginter EK; Semina EV; Marakhonov AV; Zinchenko RA
    Clin Genet; 2017 Dec; 92(6):639-644. PubMed ID: 28321846
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Congenital aniridia beyond black eyes: From phenotype and novel genetic mechanisms to innovative therapeutic approaches.
    Daruich A; Duncan M; Robert MP; Lagali N; Semina EV; Aberdam D; Ferrari S; Romano V; des Roziers CB; Benkortebi R; De Vergnes N; Polak M; Chiambaretta F; Nischal KK; Behar-Cohen F; Valleix S; Bremond-Gignac D
    Prog Retin Eye Res; 2023 Jul; 95():101133. PubMed ID: 36280537
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 8. Clinical and molecular aspects of congenital aniridia - A review of current concepts.
    Tibrewal S; Ratna R; Gour A; Agarkar S; Dubey S; Ganesh S; Kekunnaya R; Sangwan V; Liu Y; Vanita V
    Indian J Ophthalmol; 2022 Jul; 70(7):2280-2292. PubMed ID: 35791108
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [Genetics of congenital aniridia].
    Neuhaus C; Betz C; Bergmann C; Bolz HJ
    Ophthalmologe; 2014 Dec; 111(12):1157-63. PubMed ID: 25475187
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Novel mutations of the
    Nguyen HH; Pham CM; Nguyen HTT; Vu NP; Duong TT; Nguyen TD; Nguyen BD; Nguyen HV; Nong HV
    Mol Vis; 2021; 27():555-563. PubMed ID: 34566401
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. [National protocol for diagnosis and care of congenital aniridia: Summary for the attending physician].
    Bremond-Gignac D; Robert M; Daruich A; Borderie V; Chiambaretta F; Valleix S;
    J Fr Ophtalmol; 2022 Jun; 45(6):647-652. PubMed ID: 35667788
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Novel Intragenic
    Boese EA; Tollefson MR; Schnieders MJ; Darbro BW; Alward WLM; Fingert JH
    Curr Eye Res; 2020 Jan; 45(1):91-96. PubMed ID: 31361967
    [No Abstract]   [Full Text] [Related]  

  • 14. Screening of PAX6 gene in Italian congenital aniridia patients revealed four novel mutations.
    Primignani P; Allegrini D; Manfredini E; Romitti L; Mauri L; Patrosso MC; Veniani E; Franzoni A; Del Longo A; Gesu GP; Piozzi E; Damante G; Penco S
    Ophthalmic Genet; 2016 Sep; 37(3):307-13. PubMed ID: 26849621
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Parental Mosaicism in
    Tarilonte M; Morín M; Ramos P; Galdós M; Blanco-Kelly F; Villaverde C; Rey-Zamora D; Rebolleda G; Muñoz-Negrete FJ; Tahsin-Swafiri S; Gener B; Moreno-Pelayo MA; Ayuso C; Villamar M; Corton M
    Front Genet; 2018; 9():479. PubMed ID: 30386378
    [TBL] [Abstract][Full Text] [Related]  

  • 16. The genetics of aniridia - simple things become complicated.
    Wawrocka A; Krawczynski MR
    J Appl Genet; 2018 May; 59(2):151-159. PubMed ID: 29460221
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mutation spectrum of
    You B; Zhang X; Xu K; Xie Y; Ye H; Li Y
    Mol Vis; 2020; 26():226-234. PubMed ID: 32214788
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Mild aniridia phenotype: an under-recognized diagnosis of a severe inherited ocular disease.
    Yahalom C; Blumenfeld A; Hendler K; Wussuki-Lior O; Macarov M; Shohat M; Khateb S
    Graefes Arch Clin Exp Ophthalmol; 2018 Nov; 256(11):2157-2164. PubMed ID: 30167917
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 7.