• Publications
  • Influence
Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma
Primary angle closure glaucoma (PACG) is a major cause of blindness worldwide. We conducted a genome-wide association study (GWAS) followed by replication in a combined total of 10,503 PACG cases andExpand
  • 90
  • 9
  • PDF
Human CHN1 Mutations Hyperactivate α2-Chimaerin and Cause Duane's Retraction Syndrome
Duane's retraction syndrome (DRS) is a complex congenital eye movement disorder caused by aberrant innervation of the extraocular muscles by axons of brainstem motor neurons. Studying families with aExpand
  • 126
  • 8
  • PDF
Review and update on the molecular basis of Leber congenital amaurosis.
Inherited retinal diseases are uncommon pathologies and one of the most harmful causes of childhood and adult blindness. Leber congenital amaurosis (LCA) is the most severe kind of these diseasesExpand
  • 77
  • 8
A new autosomal recessive syndrome consisting of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP gene mutation.
PURPOSE To describe the clinical and genetic characteristics of a new ophthalmic syndrome, which consists of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen, thatExpand
  • 94
  • 4
  • PDF
A recurrent missense mutation in the KAL gene in patients with X-linked Kallmann's syndrome.
Kallmann's syndrome (KS) is defined by the association of hypogonadotropic hypogonadism and anosmia or hyposmia. Segregation analysis in familial cases has demonstrated diverse inheritance patterns,Expand
  • 48
  • 3
A novel mutation confirms MFRP as the gene causing the syndrome of nanophthalmos-renititis pigmentosa-foveoschisis-optic disk drusen.
PURPOSE To describe the clinical and genetic characteristics of the second family with a recently described recessive syndrome characterized by posterior microphthalmos, retinitis pigmentosa,Expand
  • 70
  • 3
A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome
Exfoliation syndrome (XFS) is the most common recognizable cause of open-angle glaucoma worldwide. To better understand the etiology of XFS, we conducted a genome-wide association study (GWAS) ofExpand
  • 56
  • 3
  • PDF
Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia–anophthalmia–coloboma (MAC) spectrum cases
Background/aims Microphthalmia-anophthalmia-coloboma (MAC) are congenital eye malformations causing a significant percentage of visually impairments in children. Although these anomalies can ariseExpand
  • 73
  • 3
Mutations in a novel serine protease PRSS56 in families with nanophthalmos
Purpose Nanophthalmos is a rare genetic ocular disorder in which the eyes of affected individuals are abnormally small. Patients suffer from severe hyperopia as a result of their markedly reducedExpand
  • 40
  • 3
  • PDF
Sonic hedgehog mutation analysis in patients with VACTERL association
The hedgehog (Hh) genes encode secreted signaling molecules that play critical roles in numerous processes during embryonic and adult development [Bale, 2002]. During development of the human embryo,Expand
  • 27
  • 3
...
1
2
3
4
5
...