Last Posted: Nov 08, 2018
- Parental Mosaicism in PAX6 Causes Intra-Familial Variability: Implications for Genetic Counseling of Congenital Aniridia and Microphthalmia.
Tarilonte María et al. Frontiers in genetics 2018 9479
- Mild aniridia phenotype: an under-recognized diagnosis of a severe inherited ocular disease.
Yahalom Claudia et al. Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie 2018 Nov 256(11) 2157-2164
- Two Paired Box 6 mutations identified in Chinese patients with classic congenital aniridia and cataract.
Lin Ying, et al. Molecular medicine reports 2018 9
- CLINGEN Actionability Report for Wilms tumor-WT1
ClinGen Actionability Working Group
- Preimplantation genetic diagnosis as a strategy to prevent having a child born with an heritable eye disease.
Yahalom Claudia et al. Ophthalmic genetics 2018 May 1-7
- The genetics of aniridia - simple things become complicated.
Wawrocka Anna et al. Journal of applied genetics 2018 May 59(2) 151-159
- Clinical utility gene card for: Aniridia.
Richardson Rose et al. European journal of human genetics : EJHG 2016 Jul
- Mutational analysis and genotype-phenotype correlations in southern Indian patients with sporadic and familial aniridia.
Dubey Sushil Kumar, et al. Molecular vision 2015 0 88-97
- Mutational screening of 10 genes in Chinese patients with microphthalmia and/or coloboma.
Zhang X, et al. Molecular vision 2009 1
- A novel missense mutation (Leu46Val) of PAX6 found in an autistic patient.
Maekawa Motoko, et al. Neuroscience letters 2009 10 (3) 267-71
- Detailed ophthalmologic evaluation of 43 individuals with PAX6 mutations.
Hingorani Melanie, et al. Investigative ophthalmology & visual science 2009 6 (6) 2581-90
- Brain-derived neurotrophic factor and obesity in the WAGR syndrome.
Han Joan C, et al. The New England journal of medicine 2008 8 (9) 918-27
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