Stargardt Disease (STGD) is the commonest genetic form of juvenile or early adult onset macular degeneration, which is a genetically heterogeneous disease. Molecular diagnosis of STGD remains a challenge in a significant proportion of cases. To address this, seven patients from five putative STGD families were recruited. We performed capture next generation… (More)
Hereditary cataracts are clinically and genetically heterogeneous lens diseases that cause a significant proportion of visual impairment and blindness in children. Human cataracts have been linked with mutations in two genes, GJA3 and GJA8, respectively. To identify the causative mutation in a family with hereditary cataracts, family members were screened… (More)
Idiopathic congenital nystagmus (ICN) consists of involuntary and periodic ocular motility, often with seriously reduced visual acuity. To identify the genetic defects associated with X-linked ICN, we performed PCR-based DNA direct sequencing of two candidate genes, FRMD7 and GPR143, in four families. Mutation analysis led to identification of three novel… (More)
Retinitis pigmentosa (RP) is a genetically highly heterogeneous retinal disease and one of the leading causes of blindness in the world. Next-generation sequencing technology has enormous potential for determining the genetic etiology of RP. We sought to identify the underlying genetic defect in a 35-year-old male from an autosomal-dominant RP family with… (More)
In the title compound, C6H6ClN3O2, all non-H atoms are approximately coplanar [maximum deviation = 0.012 (4) Å]; an intra-molecular N-H⋯O hydrogen bond occurs between the amino group and the carbonyl group. In the crystal, mol-ecules are linked by N-H⋯N hydrogen bonds into supra-molecular chains propagated along .
The title compound, C40H47FN2O5, crystallizes with two independent but similar mol-ecules in the asymmetric unit. In the crystal, mol-ecules are linked into chains along  by inter-molecular N-H⋯O hydrogen bonds.
In the title compound, C28H29FN3O3PS, the pyrimidine ring is oriented at a dihedral angle of 50.9 (2)° with respect to the floro-benzene ring, while the two phenyl rings bonding to the same P atom are twisted with respect to each other, making a dihedral angle of 62.2 (2)°. In the crystal, mol-ecules are linked by weak C-H⋯O and C-H⋯F hydrogen bonds into a… (More)
In the title compound, C(16)H(20)O(5), the dihedral angle between the planar rings, viz. benzene and cyclo-propane, is 52.1 (2)°. Mol-ecules are connected in the crystal via weak inter-molecular C-H⋯O hydrogen bonds, forming chains in the  direction.