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Your search keyword '"Calvas, Patrick"' showing total 20 results

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20 results on '"Calvas, Patrick"'

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1. Deletion upstream of MAB21L2 highlights the importance of evolutionarily conserved non-coding sequences for eye development.

2. Structural Variant Disrupting the Expression of the Remote FOXC1 Gene in a Patient with Syndromic Complex Microphthalmia.

3. Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia.

4. Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta.

5. Individuals with heterozygous variants in the Wnt-signalling pathway gene FZD5 delineate a phenotype characterized by isolated coloboma and variable expressivity.

6. EPHA2 biallelic disruption causes syndromic complex microphthalmia with iris hypoplasia.

7. Novel PXDN biallelic variants in patients with microphthalmia and anterior segment dysgenesis.

8. Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction.

9. Expanding the phenotype of the X-linked BCOR microphthalmia syndromes.

10. Identification of PITX3 mutations in individuals with various ocular developmental defects.

11. Confirmation of TENM3 involvement in autosomal recessive colobomatous microphthalmia.

12. Incomplete penetrance of biallelic ALDH1A3 mutations.

13. Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia.

14. Identification of an HMGB3 frameshift mutation in a family with an X-linked colobomatous microphthalmia syndrome using whole-genome and X-exome sequencing.

15. Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia.

16. ALDH1A3 mutations cause recessive anophthalmia and microphthalmia.

17. Mutations in the LHX2 gene are not a frequent cause of micro/anophthalmia.

18. Mutations in the newly identified RAX regulatory sequence are not a frequent cause of micro/anophthalmia.

19. Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia

20. Mutations in the LHX2 gene are not a frequent cause of micro/anophthalmia

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