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Your search keyword '"Pax6"' showing total 28 results

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28 results on '"Pax6"'

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1. A novel deletion downstream of the PAX6 gene identified in a Chinese family with congenital aniridia.

2. Missense mutation in the PAX6 gene can cause a complex mild variable phenotype predominated by concomitant strabismus

3. Isolated aniridia caused by a novel PAX6 heterozygous deletion mediated by multi-exon complex rearrangement.

4. A rare case of an isolated PAX6 mutation, aniridia, and Wilms tumor

5. A novel deletion downstream of the PAX6 gene identified in a Chinese family with congenital aniridia

6. Ten SNPs of PAX6, Lumican, and MYOC genes are not associated with high myopia in Han Chinese.

7. PAX6 Analysis of Two Unrelated Families from the Arabian Peninsula with Classic Hereditary Aniridia.

8. Heterozygous FOXC1 Mutation (M161K) Associated with Congenital Glaucoma and Aniridia in an Infant and a Milder Phenotype in Her Mother.

9. Ocular Findings in Gillespie-Like Syndrome: Association with a New PAX6 Mutation.

10. Novel and De-novo Truncating PAX6 Mutations and Ocular Phenotypes in Thai Aniridia Patients.

11. A novel PAX6 mutation causes congenital aniridia with or without retinal detachment

12. Prevalence of ocular anomalies is increased in women with polycystic ovary syndrome-exploration of association with PAX6 genotype.

13. Diagnostic yield of targeted next-generation sequencing in infantile nystagmus syndrome.

14. Microphthalmia, late onset keratitis, and iris coloboma/aniridia in a family with a novel PAX6 mutation.

15. Extreme myopia in a family with a missense PAX6 mutation: extended phenotype

16. A rare case of an isolated PAX6 mutation, aniridia, and Wilms tumor.

17. Screening of PAX6 gene in Italian congenital aniridia patients revealed four novel mutations

18. PAX6Mutations May Be Associated with High Myopia

19. Combined Occurrence of Autosomal Dominant Aniridia and Autosomal Recessive Albinism in Several Members of a Family

20. Ocular Findings in Gillespie-Like Syndrome: Association with a New PAX6 Mutation

21. Novel and De-novo TruncatingPAX6Mutations and Ocular Phenotypes in Thai Aniridia Patients

22. PAX6 gene mutations and genotype-phenotype correlations in sporadic cases of aniridia from India

23. Microphthalmia, late onset keratitis, and iris coloboma/aniridia in a family with a novelPAX6mutation

24. PAX6 3' deletion in a family with aniridia

25. Additional Comments on 'Ten SNPs of PAX6, Lumican, and MYOC Genes are not Associated with High Myopia in Han Chinese'

26. PAX6 analysis of two unrelated families from the Arabian Peninsula with classic hereditary aniridia

27. Heterozygous FOXC1 mutation (M161K) associated with congenital glaucoma and aniridia in an infant and a milder phenotype in her mother

28. Molecular basis of Peters anomaly in Saudi Arabia

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