175 related articles for article (PubMed ID: 8188215)
1. Absence of PAX6 gene mutations in Gillespie syndrome (partial aniridia, cerebellar ataxia, and mental retardation).
Glaser T; Ton CC; Mueller R; Petzl-Erler ML; Oliver C; Nevin NC; Housman DE; Maas RL
Genomics; 1994 Jan; 19(1):145-8. PubMed ID: 8188215
[TBL] [Abstract][Full Text] [Related]
2. Three novel aniridia mutations in the human PAX6 gene.
Martha A; Strong LC; Ferrell RE; Saunders GF
Hum Mutat; 1995; 6(1):44-9. PubMed ID: 7550230
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
5. Ocular findings in Gillespie-like syndrome: association with a new PAX6 mutation.
Ticho BH; Hilchie-Schmidt C; Egel RT; Traboulsi EI; Howarth RJ; Robinson D
Ophthalmic Genet; 2006 Dec; 27(4):145-9. PubMed ID: 17148041
[TBL] [Abstract][Full Text] [Related]
6. A novel PAX6 frameshift mutation in a kindred from Atlantic Canada with familial aniridia.
Gupta SK; Orr A; Bulman D; De Becker I; Guernsey DL; Neumann PE
Can J Ophthalmol; 1999 Oct; 34(6):330-4. PubMed ID: 10604054
[TBL] [Abstract][Full Text] [Related]
7. [Present limitations of molecular biological diagnostics in Gillespie syndrome].
Kieslich M; Vanselow K; Wildhardt G; Gebhardt B; Weis R; Böhles H
Klin Padiatr; 2001; 213(2):47-9. PubMed ID: 11305191
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Missense mutations in the PAX6 gene in aniridia.
Azuma N; Hotta Y; Tanaka H; Yamada M
Invest Ophthalmol Vis Sci; 1998 Dec; 39(13):2524-8. PubMed ID: 9856761
[TBL] [Abstract][Full Text] [Related]
10. Mutation in the PAX6 gene in twenty patients with aniridia.
Chao LY; Huff V; Strong LC; Saunders GF
Hum Mutat; 2000; 15(4):332-9. PubMed ID: 10737978
[TBL] [Abstract][Full Text] [Related]
11. Identification of novel PAX6 mutations in two families with bilateral aniridia. Mutations in brief no. 167. Online.
Neuner-Jehle M; Munier F; Kobetz A; Sahly I; Uteza Y; Mermoud A; Schorderet DF; Dufier JL; Abitbol M
Hum Mutat; 1998; 12(2):138. PubMed ID: 10694925
[TBL] [Abstract][Full Text] [Related]
12. A de novo nonsense mutation of PAX6 gene in a patient with aniridia, ataxia, and mental retardation.
Graziano C; D'Elia AV; Mazzanti L; Moscano F; Guidelli Guidi S; Scarano E; Turchetti D; Franzoni E; Romeo G; Damante G; Seri M
Am J Med Genet A; 2007 Aug; 143A(15):1802-5. PubMed ID: 17595013
[No Abstract] [Full Text] [Related]
13. Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene.
Glaser T; Walton DS; Maas RL
Nat Genet; 1992 Nov; 2(3):232-9. PubMed ID: 1345175
[TBL] [Abstract][Full Text] [Related]
14. Paired box mutations in familial and sporadic aniridia predicts truncated aniridia proteins.
Martha A; Ferrell RE; Mintz-Hittner H; Lyons LA; Saunders GF
Am J Hum Genet; 1994 May; 54(5):801-11. PubMed ID: 7909985
[TBL] [Abstract][Full Text] [Related]
15. Aniridia: recent achievements in paediatric practice.
Ivanov I; Shuper A; Shohat M; Snir M; Weitz R
Eur J Pediatr; 1995 Oct; 154(10):795-800. PubMed ID: 8529675
[TBL] [Abstract][Full Text] [Related]
16. Pax6 3' deletion results in aniridia, autism and mental retardation.
Davis LK; Meyer KJ; Rudd DS; Librant AL; Epping EA; Sheffield VC; Wassink TH
Hum Genet; 2008 May; 123(4):371-8. PubMed ID: 18322702
[TBL] [Abstract][Full Text] [Related]
17. PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects.
Glaser T; Jepeal L; Edwards JG; Young SR; Favor J; Maas RL
Nat Genet; 1994 Aug; 7(4):463-71. PubMed ID: 7951315
[TBL] [Abstract][Full Text] [Related]
18. [Molecular genetic study of the PAX6 gene in aniridia patients].
Wolf M; Zabel B; Lorenz B; Blankenagel A; Ghorbani MB; Schwenn O; Wildhardt G
Ophthalmologe; 1998 Dec; 95(12):828-30. PubMed ID: 10025146
[TBL] [Abstract][Full Text] [Related]
19. Syndrome of partial aniridia, cerebellar ataxia, and mental retardation--Gillespie syndrome.
Nevin NC; Lim JH
Am J Med Genet; 1990 Apr; 35(4):468-9. PubMed ID: 2333873
[TBL] [Abstract][Full Text] [Related]
20. Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype.
Grønskov K; Rosenberg T; Sand A; Brøndum-Nielsen K
Eur J Hum Genet; 1999 Apr; 7(3):274-86. PubMed ID: 10234503
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]