Ophthalmic Paediatrics and Genetics

Title Publication Date Language Citations
Buphthalmos and progressive elephantiasis in neurofibromatosis: A report of three cases1989/01/01English4
A Japanese pedigree of autosomal dominant congenital stationary night blindness with variable expressivity1992/01/01English3
Genetic counseling in anophthalmia1985/01/01English3
Craniofacial dysmorphism and opsoclonus1984/01/01English3
A case of retinitis pigmentosa associated with Coats’ syndrome1984/01/01English3
Neuronal and photoreceptor differentiation of retinoblastoma in culture1990/01/01English3
Central areolar choroidal dystrophy in a family with pseudoachondroplastic spondyloepiphyseal dysplasia1988/01/01English3
Ocular pathology in trisomy 18: A histopathological report of three cases1989/01/01English3
Fundus findings in Leber's hereditary optic neuroretinopathy1985/01/01English3
Atypical macular coloboma (dysplasia) associated with familial juvenile nephronophthisis and skeletal abnormality1988/01/01English3
Familial juvenile nephronophthisis and associated ocular anomalies (Senior's syndrome). A study of three families1982/01/01English3
Mapping of the X-linked recessive retinitis pigmentosa gene1990/01/01English3
X-linked recessive myopia associated with nyctalopia in a Sicilian family1982/01/01English3
Immune complexes in retinitis pigmentosa1984/01/01English3
Ocular involvement in histidinaemia1987/01/01English3
Thirty-six years after a mandibulo-facial dysostosis operation1985/01/01English3
The prognosis of retinoblastoma in terms of globe saving treatment. A computer assisted study. Part I1987/01/01English3
A new case of acro-renal-ocular (radio-renal-ocular) syndrome with cleft palate and costo-vertebral defects?1991/01/01English3
Oculocutaneous albinism associated with congenital glaucoma1988/01/01English3
Developmental glaucoma in oculocutaneous albinism1988/01/01English3
Spontaneous Regression of Unilateral Retinoblastoma in a Father of three Sons with Bilateral Retinoblastoma1985/01/01English3
Retinoblastoma Aqueous Humor: Aromatic Amino Acids1993/01/01English3
Choroideremia in a Genotypically Normal Female1985/01/01English3
Interindividual differences of corneal sensitivity Genetic aspects1985/01/01English3
A pedigree of Leber's congenital amaurosis1988/01/01English3
Patterned dystrophy of the retinal pigment epithelium1986/01/01English3
Dominant juvenile optic atrophy1985/01/01English3
Congenital retinal non-attachment associated with the Dandy-Walker syndrome1983/01/01English3
Ultrastructural study of primary canine and human pigmentary retinopathy1985/01/01English2
DNA diagnosis in a family with autosomal dominant aniridia1991/01/01English2