419 related articles for article (PubMed ID: 31861090)
1. The Spectrum of
Lima Cunha D; Arno G; Corton M; Moosajee M
Genes (Basel); 2019 Dec; 10(12):. PubMed ID: 31861090
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. PAX6 missense variants in two families with isolated foveal hypoplasia and nystagmus: evidence of paternal postzygotic mosaicism.
Lima Cunha D; Owen N; Tailor V; Corton M; Theodorou M; Moosajee M
Eur J Hum Genet; 2021 Feb; 29(2):349-355. PubMed ID: 33024313
[TBL] [Abstract][Full Text] [Related]
4. Analysis of genotype-phenotype correlations in
Vasilyeva TA; Marakhonov AV; Voskresenskaya AA; Kadyshev VV; Käsmann-Kellner B; Sukhanova NV; Katargina LA; Kutsev SI; Zinchenko RA
J Med Genet; 2021 Apr; 58(4):270-274. PubMed ID: 32467297
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. A rare case of an isolated PAX6 mutation, aniridia, and Wilms tumor.
Lind KT; Cost NG; Zegar K; Kuldanek SA; Enzenauer RW; Schneider KW
Ophthalmic Genet; 2021 Apr; 42(2):216-217. PubMed ID: 33300417
[No Abstract] [Full Text] [Related]
7. PAX6 mutations: genotype-phenotype correlations.
Tzoulaki I; White IM; Hanson IM
BMC Genet; 2005 May; 6():27. PubMed ID: 15918896
[TBL] [Abstract][Full Text] [Related]
8. Foveal Hypoplasia Grading in 95 Cases of Congenital Aniridia: Correlation to Phenotype and PAX6 Genotype.
Daruich A; Robert MP; Leroy C; DE Vergnes N; Beugnet C; Malan V; Valleix S; Bremond-Gignac D
Am J Ophthalmol; 2022 May; 237():122-129. PubMed ID: 34942114
[TBL] [Abstract][Full Text] [Related]
9. Clinical and molecular aspects of aniridia.
Kokotas H; Petersen MB
Clin Genet; 2010 May; 77(5):409-20. PubMed ID: 20132240
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Isolated aniridia caused by a novel
Torrefranca AB; Carmona SM; Santiago APD; Cutiongco-Dela Paz E; Lingao MD
Ophthalmic Genet; 2023 Oct; 44(5):501-504. PubMed ID: 36440799
[TBL] [Abstract][Full Text] [Related]
12. 11p13 deletions can be more frequent than the PAX6 gene point mutations in Polish patients with aniridia.
Wawrocka A; Sikora A; Kuszel L; Krawczynski MR
J Appl Genet; 2013 Aug; 54(3):345-51. PubMed ID: 23761016
[TBL] [Abstract][Full Text] [Related]
13. Genetic dissection of Pax6 dosage requirements in the developing mouse eye.
Davis-Silberman N; Kalich T; Oron-Karni V; Marquardt T; Kroeber M; Tamm ER; Ashery-Padan R
Hum Mol Genet; 2005 Aug; 14(15):2265-76. PubMed ID: 15987699
[TBL] [Abstract][Full Text] [Related]
14. Morphometric analysis of the lens in human aniridia and mouse Small eye.
Voskresenskaya A; Pozdeyeva N; Batkov Y; Vasilyeva T; Marakhonov A; West RA; Caplan JL; Cvekl A; Wang Y; Duncan MK
Exp Eye Res; 2021 Feb; 203():108371. PubMed ID: 33248069
[TBL] [Abstract][Full Text] [Related]
15. Aniridia.
Hingorani M; Hanson I; van Heyningen V
Eur J Hum Genet; 2012 Oct; 20(10):1011-7. PubMed ID: 22692063
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Nonsense suppression induced readthrough of a novel PAX6 mutation in patient-derived cells of congenital aniridia.
Liu X; Zhang Y; Zhang B; Gao H; Qiu C
Mol Genet Genomic Med; 2020 May; 8(5):e1198. PubMed ID: 32125788
[TBL] [Abstract][Full Text] [Related]
18. A novel variant in PAX6 as the cause of aniridia in a Chinese family.
Jin X; Liu W; Qv LH; X WQ; Huang HB
BMC Ophthalmol; 2021 May; 21(1):225. PubMed ID: 34016071
[TBL] [Abstract][Full Text] [Related]
19. Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia.
Hall HN; Parry D; Halachev M; Williamson KA; Donnelly K; Campos Parada J; Bhatia S; Joseph J; Holden S; Prescott TE; Bitoun P; Kirk EP; Newbury-Ecob R; Lachlan K; Bernar J; van Heyningen V; FitzPatrick DR; Meynert A
J Med Genet; 2024 Feb; 61(3):250-261. PubMed ID: 38050128
[TBL] [Abstract][Full Text] [Related]
20. Longitudinal genotype-phenotype analysis in 86 patients with PAX6-related aniridia.
Kit V; Cunha DL; Hagag AM; Moosajee M
JCI Insight; 2021 Jul; 6(14):. PubMed ID: 34101622
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]