Published in J Med Genet on March 01, 1975
Dominant optic atrophy. Orphanet J Rare Dis (2012) 1.11
A review of primary hereditary optic neuropathies. J Inherit Metab Dis (2003) 0.98
A gene for X-linked optic atrophy is closely linked to the Xp11.4-Xp11.2 region of the X chromosome. Am J Hum Genet (1997) 0.86
[Hereditary optic atrophies]. Ophthalmologe (2009) 0.75
A sex-linked recessive form of spastic paraplegia. Am J Hum Genet (1962) 2.07
Two kindreds with a sex-linked recessive form of spastic paraplegia. Birth Defects Orig Artic Ser (1971) 1.48
Studies on African Pygmies. I. A pilot investigation of Babinga Pygmies in the Central African Republic (with an analysis of genetic distances). Am J Hum Genet (1969) 1.81
The genetics of tritan disturbances. Hum Genet (1985) 1.55
Hemoglobin O arab in four negro families and its interaction with hemoglobin S and hemoglobin C. N Engl J Med (1970) 1.35
Color matching and foveal densitometry in patients and carriers of an X-linked progressive cone dystrophy. Arch Ophthalmol (1990) 1.35
Human tritanopia associated with two amino acid substitutions in the blue-sensitive opsin. Am J Hum Genet (1992) 1.27
Tumour spectrum in the FAMMM syndrome. Br J Cancer (1981) 1.24
Parental transmission in Huntington's disease. Lancet (1984) 1.24
Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia. Am J Hum Genet (1996) 1.23
Dominant cone dystrophy starting with blue cone involvement. Br J Ophthalmol (1991) 1.21
Genetic aspects of erythropoietic protoporphyria. Ann Hum Genet (1984) 1.15
Hierarchy of prognostic factors for corneal allograft survival. Aust N Z J Ophthalmol (1987) 1.13
Familial cerebral amyloid angiopathy presenting as recurrent cerebral haemorrhage. J Neurol Sci (1982) 1.12
Huntington's Chorea in the Netherlands. The problem of genetic heterogeneity. Ann Hum Genet (1983) 1.11
Different influences on corneal graft survival in 539 transplants. Acta Ophthalmol (Copenh) (1982) 1.10
Ages of death of children with Huntington's chorea and of their affected parents. Ann Hum Genet (1976) 1.09
Primary choroidal and cutaneous melanomas, bilateral choroidal melanomas, and familial occurrence of melanomas. Br J Ophthalmol (1982) 1.08
New test for the detection of tritan defects evaluated in two surveys. Vision Res (1981) 1.06
Hereditary cerebral haemorrhage caused by cortical amyloid angiopathy. J Neurol Sci (1988) 1.06
Increment spectral sensitivity of hemizygotes and heterozygotes for different classes of colour vision. Mod Probl Ophthalmol (1978) 1.02
A case of Acanthamoeba keratitis in The Netherlands. Trans R Soc Trop Med Hyg (1981) 1.00
Analysis of corneal aldehyde dehydrogenase patterns in pathologic corneas. Cornea (1993) 0.95
Identification and characterization of herpes simplex virus-specific CD4+ T cells in corneas of herpetic stromal keratitis patients. J Infect Dis (1998) 0.94
Clinical and genetic studies in six Dutch kindreds with the dysplastic naevus syndrome. Ann Hum Genet (1986) 0.93
Results of a sedimentation technique for cytology of cerebrospinal fluid. Acta Cytol (1968) 0.93
Studies on Leber's optic neuropathy III. Doc Ophthalmol (1989) 0.93
Neurological studies in families with Leber's optic atrophy. Acta Neurol Scand (1971) 0.92
Further evidence for localization of the gene of erythrokeratodermia variabilis. Hum Genet (1988) 0.91
Haemoglobin Leiden: deletion of beta-6 or 7 glutamic acid. Nature (1968) 0.91
Familial hypokalemic periodic paralysis. 50-year follow-up of a large family. Arch Neurol (1985) 0.90
The effect of prospective HLA-A and -B matching on corneal graft survival. Acta Ophthalmol (Copenh) (1982) 0.90
X-linked ichthyosis: linkage relationship with the Xg blood groups and other studies in a large Dutch kindred. Ann Hum Genet (1969) 0.89
Human tritanopia associated with a third amino acid substitution in the blue-sensitive visual pigment. Am J Hum Genet (1992) 0.89
Patient satisfaction after corneal transplantation. Cornea (2001) 0.88
Protoporphyrin-induced photohemolysis in protoporphyria and in normal red blood cells. Clin Chim Acta (1970) 0.88
Frequencies of different types of colour vision defects in the Netherlands. Hum Hered (1978) 0.87
Visual prognosis in immunocompetent patients with herpes zoster ophthalmicus. Acta Ophthalmol Scand (2003) 0.87
X linked progressive cone dystrophy with specific attention to carrier detection. J Med Genet (1992) 0.87
Hereditary spastic dystonia: a new mitochondrial encephalopathy? Putaminal necrosis as a diagnostic sign. J Neurol Sci (1991) 0.87
Photodynamic damage of the erythrocyte membrane caused by protoporphyrin in protoporphyria and in normal red blood cells. Clin Chim Acta (1972) 0.86
Clinical evaluation of the pressure phosphene tonometer in patients with glaucoma. Br J Ophthalmol (2005) 0.85
Genetic linkage studies in Huntington's chorea. Ann Hum Genet (1980) 0.85
Color matching in autosomal dominant tritan defect. J Opt Soc Am (1981) 0.85
Longitudinal analysis of varicella-zoster virus DNA on the ocular surface associated with herpes zoster ophthalmicus. Am J Ophthalmol (2001) 0.85
A new genetic variant of beta-thalassaemia. Nature (1966) 0.84
Possible relation between HLA and ABO type and prognosis of uveal melanoma. Doc Ophthalmol (1992) 0.84
Hereditary compression syndrome of peripheral nerves. Neurology (1965) 0.84
The effect of immunological and non-immunological factors on corneal graft survival. A single center study. Doc Ophthalmol (1984) 0.83
Hereditary spastic dystonia with Leber's hereditary optic neuropathy: neuropathological findings. J Neurol Sci (1992) 0.83
Orofacial granulomatosis in a patient with Crohn's disease. J Am Acad Dermatol (2003) 0.83
A search for associations between genetical polymorphic systems and physical, biochemical and Haematological variables. Hum Hered (1974) 0.82
The presence of activated donor HLA class I-reactive T lymphocytes is associated with rejection of corneal grafts. Transplantation (1995) 0.82
X-linked incomplete achromatopsia with more than one class of functional cones. Invest Ophthalmol Vis Sci (1983) 0.82
Oculomotor defects in patients with Huntington's disease and their offspring. J Neurol Sci (1988) 0.81
Risk and prognostic factors of postherpetic neuralgia and focal sensory denervation: a prospective evaluation in acute herpes zoster ophthalmicus. Clin J Pain (2000) 0.81
Homozygous beta+ thalassaemia owing to a mutation in the cleavage-polyadenylation sequence of the human beta globin gene. J Med Genet (1991) 0.80
Genetic linkage between erythrokeratodermia variabilis and Rh locus. Hum Genet (1984) 0.80
[Familial cerebral hemorrhage as a result of cerebral amyloid angiopathy]. Ned Tijdschr Geneeskd (1986) 0.80
Measurement of stray light and glare: comparison of Nyktotest, Mesotest, stray light meter, and computer implemented stray light meter. Br J Ophthalmol (2005) 0.79
The effect of prospective HLA-A and -B matching in 288 penetrating keratoplasties for herpes simplex keratitis. Acta Ophthalmol (Copenh) (1984) 0.79
Familial benign hypercalcaemia (FBH; McK. No. 14598, 1983): linkage studies in a large Dutch family. Hum Genet (1984) 0.79
Corneal grafts for endothelial decompensation: the influence of intraocular lenses on corneal graft survival. Acta Ophthalmol (Copenh) (1984) 0.79
Studies in dominant optic atrophy. Ophthalmic Paediatr Genet (1985) 0.79
Characterization of protoporphyrin in red blood cells of patients with erythropoietic protoporphyria. Clin Chim Acta (1975) 0.79
Are cytokine patterns in aqueous humour useful in distinguishing corneal graft rejection from opacification due to herpetic stromal keratitis? Doc Ophthalmol (1999) 0.79
Cellular and humoral anticorneal immune response in corneal transplantation. Arch Ophthalmol (1991) 0.79
Alcaligenes xylosoxidans endophthalmitis 8 months after cataract extraction. Am J Ophthalmol (1999) 0.79
Binding of Protoporphyrin to hemoglobin in red blood cells of patients with erythropoietic protoporphyria. Hemoglobin (1977) 0.79
Ocular melanoma in families with dysplastic nevus syndrome. J Am Acad Dermatol (1990) 0.78
The genetics of Leber's optic atrophy and its neurological sequelae. J Genet Hum (1966) 0.78
Emotional stress and rejection, cause and effect. Doc Ophthalmol (1983) 0.77
-Carotene as a treatment for photohypersensitivity due to erythropoietic protoporphyria. Dermatologica (1972) 0.77
Metabolic aspects of the photodynamic effect of protoporphyrin in protoporphyria and in normal red blood cells. Clin Chim Acta (1971) 0.77
Relation between perceived driving disability and scores of vision screening tests. Br J Ophthalmol (2002) 0.77
Comparative colour vision and other ophthalmological studies in three families with dominant inherited juvenile optic atrophy. Mod Probl Ophthalmol (1974) 0.76
Haemoglobin J Baltimor (alpha 2 beta 2 16 gly--asp) and Haemoglobin D Punjab (alpha 2 beta 2 121 glu--gln) in two Dutch families. Acta Genet Stat Med (1968) 0.76
Post-corneal transplant tumors of nondonor origin in the anterior chamber of the eye: a case report. Cornea (1998) 0.76
Two families with dyshidrotic ectodermal dysplasia associated with ingrowth of corneal vessels, limbal hair growth, and Bitôt-like conjunctival anomalies. Ophthalmic Genet (1997) 0.76
Advances and disappointments, indications and restrictions regarding HLA-matched corneal grafts in high risk cases. Doc Ophthalmol (1979) 0.75
HLA and ABO antigens in malignant choroidal melanoma. Clin Exp Immunol (1983) 0.75
Linkage investigations in two families with hereditary ataxia. J Neurol Neurosurg Psychiatry (1981) 0.75
Haemoglobin Lepore Boston and elliptocytosis in a family of Indonesian-German ancestry. J Med Genet (1975) 0.75
Corneal dystrophy following lens implantation. Doc Ophthalmol (1980) 0.75
Abnormal hemoglobins caused by deletions: a review. Hemoglobin (1979) 0.75
[Familial hypercholesterolemia: recognition and prevention of cardiac complications at a young age]. Ned Tijdschr Geneeskd (2000) 0.75
Genetic and clinical determinants for the T cell mediated immune response against the cornea specific protein BCP 54. Br J Ophthalmol (1994) 0.75
Rejected human corneal grafts. II. Light and electron microscopic study. Doc Ophthalmol (1981) 0.75
Leber's optic neuropathy I. Clinical studies. Doc Ophthalmol (1982) 0.75
The histology of iatrogenic keratitis bullosa. Doc Ophthalmol (1981) 0.75
Colour vision, ophthalmological and linkage studies in a pedigree with a tritan defect. Mod Probl Ophthalmol (1974) 0.75
[Diagnostic image (155). A man with facial emphysema. Subcutaneous facial emphysema due to dental cleaning]. Ned Tijdschr Geneeskd (2003) 0.75
Diagnosis and treatment of complications in the follow-up period after corneal transplantation. Doc Ophthalmol (1979) 0.75
First experiences with HLA-matched corneal grafts in high risk cases. Doc Ophthalmol (1977) 0.75
Automutilation of the cornea. I. Ophthalmological aspects. Doc Ophthalmol (1982) 0.75
Melting of the recipient part of the cornea after keratoplasty. Doc Ophthalmol (1983) 0.75
Haemoglobin A2-NYU in the Netherlands. Incidence of delta-chain variants in human populations. Hum Hered (1974) 0.75
Automutilation of the cornea. II. Psychiatric aspects. Doc Ophthalmol (1982) 0.75
[Amebic keratitis in a wind-surfer]. Ned Tijdschr Geneeskd (1980) 0.75
Rejected human corneal grafts. I. Clinical study. Doc Ophthalmol (1981) 0.75
A semidisposable punchblock with the disposable superblade trephine: a good combination with which to obtain donor corneal disc. Doc Ophthalmol (1982) 0.75