- Novel insights in genotype-phenotype correlations in BPES through in-depth FOXL2 mutation analysis
- Symptomatic pineal cysts: clinical manifestations and management
- Spectrum and distribution of FOXL2 gene mutations and variants in BPES, POF and XX male patients: tentative genotype-phenotype correlation
- Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype-phenotype correlation
- Homozygous and compound-heterozygous type I plasminogen deficiency is a common cause of ligneous conjunctivitis.
- Imaging studies in the diagnostic workup of neonatal nasal obstruction.
- Ophthalmologic and systemic features of the Alström syndrome: report of 9 cases
- A new mitochondrial point mutation in the transfer RNA(Leu) gene in a patient with a clinical phenotype resembling Kearns-Sayre syndrome.
- Sorsby fundus dystrophy without a mutation in the TIMP-3 gene.
Indocyanine green angiography in Sorsby's fundus dystrophy.
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