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5. Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies. Azuma N; Yamaguchi Y; Handa H; Hayakawa M; Kanai A; Yamada M Am J Hum Genet; 1999 Sep; 65(3):656-63. PubMed ID: 10441571 [TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. Absence of mutations in Pax6 gene in three cases of morning glory syndrome associated with isolated growth hormone deficiency. Guerra-Junior G; Spinola-Castro AM; Siviero-Miachon AA; Nogueira RG; Lemos-Marini SH; D'Souza-Li LF; Silva PC; França ES; Soardi FC; Mello MP Arq Bras Endocrinol Metabol; 2008 Nov; 52(8):1221-7. PubMed ID: 19169473 [TBL] [Abstract][Full Text] [Related]
10. Detailed ophthalmologic evaluation of 43 individuals with PAX6 mutations. Hingorani M; Williamson KA; Moore AT; van Heyningen V Invest Ophthalmol Vis Sci; 2009 Jun; 50(6):2581-90. PubMed ID: 19218613 [TBL] [Abstract][Full Text] [Related]
11. Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly. Hanson IM; Fletcher JM; Jordan T; Brown A; Taylor D; Adams RJ; Punnett HH; van Heyningen V Nat Genet; 1994 Feb; 6(2):168-73. PubMed ID: 8162071 [TBL] [Abstract][Full Text] [Related]
12. 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]
13. Elliptical anterior iris stromal defects associated with PAX6 gene sequence changes. Sharan S; Mirzayans F; Footz T; Walter M; Levin AV J AAPOS; 2008 Aug; 12(4):340-3. PubMed ID: 18440259 [TBL] [Abstract][Full Text] [Related]
14. Variable phenotype related to a novel PAX 6 mutation (IVS4+5G>C) in a family presenting congenital nystagmus and foveal hypoplasia. Vincent MC; Gallai R; Olivier D; Speeg-Schatz C; Flament J; Calvas P; Dollfus H Am J Ophthalmol; 2004 Dec; 138(6):1016-21. PubMed ID: 15629294 [TBL] [Abstract][Full Text] [Related]
15. Xenopus pax6 mutants affect eye development and other organ systems, and have phenotypic similarities to human aniridia patients. Nakayama T; Fisher M; Nakajima K; Odeleye AO; Zimmerman KB; Fish MB; Yaoita Y; Chojnowski JL; Lauderdale JD; Netland PA; Grainger RM Dev Biol; 2015 Dec; 408(2):328-44. PubMed ID: 25724657 [TBL] [Abstract][Full Text] [Related]
16. Histopathological characterisation of effects of the mouse Pax6(Leca4) missense mutation on eye development. Ramaesh T; Williams SE; Paul C; Ramaesh K; Dhillon B; West JD Exp Eye Res; 2009 Aug; 89(2):263-73. PubMed ID: 19345209 [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. 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]