Published in Arch Ophthalmol on October 01, 1980
A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration. Am J Hum Genet (2000) 2.18
A YAC contig encompassing the recessive Stargardt disease gene (STGD) on chromosome 1p. Am J Hum Genet (1995) 1.19
A new locus for autosomal dominant stargardt-like disease maps to chromosome 4. Am J Hum Genet (1999) 1.15
Stargardt's disease and fundus flavimaculatus: evaluation of morphologic progression and intrafamilial co-existence. Trans Am Ophthalmol Soc (1986) 1.07
Analysis of retinal flecks in fundus flavimaculatus using optical coherence tomography. Br J Ophthalmol (2006) 1.00
Extensive intrafamilial and interfamilial phenotypic variation among patients with autosomal dominant retinal dystrophy and mutations in the human RDS/peripherin gene. Br J Ophthalmol (1995) 0.95
Genetics and molecular pathology of Stargardt-like macular degeneration. Prog Retin Eye Res (2010) 0.95
Analysis of 21 Stargardt's disease families confirms a major locus on chromosome 1p with evidence for non-allelic heterogeneity in a minority of cases. Br J Ophthalmol (1996) 0.89
In vivo visualization of photoreceptor layer and lipofuscin accumulation in stargardt's disease and fundus flavimaculatus by high resolution spectral-domain optical coherence tomography. Clin Ophthalmol (2009) 0.83
DHA supplementation for late onset Stargardt disease: NAT-3 study. Clin Ophthalmol (2010) 0.81
Genotype-phenotype correlations and differential diagnosis in autosomal dominant macular disease. Doc Ophthalmol (2001) 0.78
Three-dimensional spectral domain optical coherence tomography in Stargardt disease and fundus flavimaculatus. J Ocul Biol Dis Infor (2012) 0.76
Molecular genetics of macular dystrophies. Br J Ophthalmol (1996) 0.75
Intravitreal ranibizumab (Lucentis) for choroidal neovascularization associated with Stargardt's disease. Graefes Arch Clin Exp Ophthalmol (2007) 0.75
Efficacy of traditional Chinese herbal therapy in adult atopic dermatitis. Lancet (1992) 4.75
Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders. J Med Genet (2008) 3.87
Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss. Am J Hum Genet (1998) 2.51
Neocortical damage during HIV infection. Ann Neurol (1991) 2.15
Cortical dendritic pathology in human immunodeficiency virus encephalitis. Lab Invest (1992) 2.12
In silico identification of novel selenoproteins in the Drosophila melanogaster genome. EMBO Rep (2001) 2.12
Clinical studies of families with hearing loss attributable to mutations in the connexin 26 gene (GJB2/DFNB1) Pediatrics (1999) 2.05
Autosomal dominant Stargardt-like macular dystrophy: founder effect and reassessment of genetic heterogeneity. Arch Ophthalmol (2001) 1.65
Antibiotic treatment of parturient women colonized with group B streptococci. Am J Obstet Gynecol (1976) 1.60
Paediatric oncology information pack for general practitioners. Br Med J (Clin Res Ed) (1988) 1.49
Presenting features and prognosis of chronic lymphocytic leukemia in younger adults. Blood (1991) 1.48
Natal teeth, patent ductus arteriosus and intestinal pseudo-obstruction: a lethal syndrome in the newborn. Clin Genet (1976) 1.48
Autologous stem-cell transplantation for Hodgkin's disease: results and prognostic factors in 494 patients from the Grupo Español de Linfomas/Transplante Autólogo de Médula Osea Spanish Cooperative Group. J Clin Oncol (2001) 1.43
U.K. deep diving trials. Philos Trans R Soc Lond B Biol Sci (1984) 1.43
The clinical spectrum of posterior polymorphous dystrophy. Arch Ophthalmol (1977) 1.40
Re: Suicide in old age. Can J Psychiatry (1996) 1.39
[Waldenström's macroglobulinemia with IgG monoclonal component]. Med Clin (Barc) (1992) 1.39
Letter to the editor: PDGRE: a computer program to graph human pedigrees. Am J Hum Genet (1976) 1.38
Drug-induced agranulocytosis: prognostic factors in a series of 168 episodes. Br J Haematol (1991) 1.35
Additional data on the population distribution of human serum albumin genes; three new variants. Ann Hum Genet (1973) 1.35
Detailed analysis of structures and formulations of cationic lipids for efficient gene transfer to the lung. Hum Gene Ther (1996) 1.23
Identification of a dominant negative homeodomain mutation in Rieger syndrome. J Biol Chem (2001) 1.21
Evidence for a distinct region causing a cat-like cry in patients with 5p deletions. Am J Hum Genet (1995) 1.13
The effects of dystrophin gene mutations on the ERG in mice and humans. Invest Ophthalmol Vis Sci (1993) 1.13
Enteroviruses associated with the hemolytic-uremic syndrome. Pediatrics (1970) 1.12
Electroretinogram changes in acute quinine poisoning. Arch Ophthalmol (1973) 1.10
Bone marrow histologic pattern--the best single prognostic parameter in chronic lymphocytic leukemia: a multivariate survival analysis of 329 cases. Blood (1984) 1.08
Neonatal herpes simplex retinitis. Albrecht Von Graefes Arch Klin Exp Ophthalmol (1975) 1.07
Parental trisomy 21 mosaicism. Am J Hum Genet (1982) 1.06
Retinal signal transmission in Duchenne muscular dystrophy: evidence for dysfunction in the photoreceptor/depolarizing bipolar cell pathway. J Clin Invest (1994) 1.05
Congenital pupillary-iris-lens membrane with goniodysgenesis (a new entity). Ophthalmology (1986) 1.04
The differential diagnosis of Descemet's tears (Haab's striae) and posterior polymorpous dystrophy bands. A clinicopathologic study. Ophthalmology (1982) 1.04
Basis of pulmonary toxicity associated with cationic lipid-mediated gene transfer to the mammalian lung. Hum Gene Ther (1997) 1.02
Spinal flexibility and balance control among community-dwelling adults with and without Parkinson's disease. J Gerontol A Biol Sci Med Sci (2000) 0.98
Clinical and electroretinographic findings in fetal alcohol syndrome. J AAPOS (2000) 0.98
Ancient introgression of Lepus timidus mtDNA into L. granatensis and L. europaeus in the Iberian Peninsula. Mol Phylogenet Evol (2003) 0.97
Duchenne/Becker muscular dystrophy: correlation of phenotype by electroretinography with sites of dystrophin mutations. Hum Genet (1999) 0.97
Partial correction of defective Cl(-) secretion in cystic fibrosis epithelial cells by an analog of squalamine. Am J Physiol Lung Cell Mol Physiol (2001) 0.96
Traumatic corneal endothelial rings. Arch Ophthalmol (1978) 0.96
Pathogenesis of cataracts in patients with Lowe's syndrome. Ophthalmology (1986) 0.96
Lenticular opacities in carriers of Lowe's syndrome. Ophthalmology (1986) 0.96
Pupillary hemiakinesia in suprageniculate lesions. Arch Ophthalmol (1975) 0.96
The monophyletic origin of freshwater crayfish estimated from nuclear and mitochondrial DNA sequences. Proc Biol Sci (2000) 0.95
P-1 lysogeny and bacterial conjugation. J Bacteriol (1966) 0.95
Congenital ptosis. Results of treatment using lyophilized fascia lata for frontalis suspensions. Ophthalmology (1982) 0.95
Corneal keloid in Lowe's syndrome. Arch Ophthalmol (1982) 0.94
Familial presacral teratomas. Birth Defects Orig Artic Ser (1975) 0.94
Propionic acidemia: a clinical update. J Pediatr (1981) 0.94
Long-term storage at -80 degrees C of hematopoietic progenitor cells with 5-percent dimethyl sulfoxide as the sole cryoprotectant. Transfusion (1999) 0.94
Contrasting patterns of population subdivision and historical demography in three western Mediterranean lizard species inferred from mitochondrial DNA variation. Mol Ecol (2007) 0.94
A psychiatric study of patients with persistent low back pain. Rheumatol Rehabil (1979) 0.94
Confirmation of trisomy 22 by trypsin-giemsa staining. J Med Genet (1976) 0.93
Hemangiopericytoma of the spinal canal. Report of three cases. J Neurosurg (1978) 0.93
Herpes simplex retinitis. Arch Ophthalmol (1978) 0.92
Altitude retinopathy on Mount Everest, 1989. Ophthalmology (1992) 0.92
Cytogenetic analysis of a boy with the XXXY syndrome: origin of the X-chromosomes. Pediatrics (1970) 0.92
When selection deceives phylogeographic interpretation: the case of the Mediterranean house gecko, Hemidactylus turcicus (Linnaeus, 1758). Mol Phylogenet Evol (2010) 0.92
Medical aspects of competitive distance running: guidelines for community physicians. Postgrad Med (1981) 0.91
Conflicting patterns of nucleotide diversity between mtDNA and nDNA in the Moorish gecko, Tarentola mauritanica. Mol Phylogenet Evol (2010) 0.91
Iridocorneal adhesions in posterior polymorphous dystrophy. Trans Sect Ophthalmol Am Acad Ophthalmol Otolaryngol (1977) 0.90
Viruses and disease. 3. An outbreak of adenovirus type 7A in a children's home. Am J Epidemiol (1971) 0.90
Multigene phylogeny of Malagasy day geckos of the genus Phelsuma. Mol Phylogenet Evol (2009) 0.89
Staphylococcal colonization in a newborn nursery, 1971--1976. Am J Epidemiol (1979) 0.89
Discordance for the Kleeblattschädel anomaly in monozygotic twins with thanatophoric dysplasia. Am J Med Genet (1983) 0.89
Metabolic and histologic investigation of the nature of nephrocalcinosis in children with hypophosphatemic rickets and in the Hyp mouse. J Pediatr (1992) 0.88
Congenital cysts of the iris stroma. Am J Ophthalmol (1985) 0.88
Muscle inclusion cyst as a complication of strabismus surgery. Am J Ophthalmol (1985) 0.88
Congenital familial external ophthalmoplegia with co-contraction. Ophthalmic Paediatr Genet (1984) 0.87
Monozygotic twins with the Turner syndrome. Am J Obstet Gynecol (1972) 0.87
Autosomal dominant inheritance of a negative electroretinogram phenotype in three generations. Am J Ophthalmol (2001) 0.87
Reproductive risk of t(13q14q) carriers: case report and review. Am J Med Genet (1979) 0.86
Eating disturbances in women of color: an exploratory study of contextual factors in the development of disordered eating in Mexican American women. Health Care Women Int (2002) 0.86
Brückner test. Ophthalmology (1981) 0.86
Correction of deficient CD34+ cells from peripheral blood after mobilization in a patient with congenital erythropoietic porphyria. Mol Ther (2001) 0.86
Nasolacrimal duct probing in infants. Ophthalmology (1979) 0.85
Cryopreservation of hematopoietic progenitor cells with 5-percent dimethyl sulfoxide at -80 degrees C without rate-controlled freezing. Transfusion (1996) 0.85
Rapid strabismus screening for the pediatrician. Clin Pediatr (Phila) (1986) 0.85
Posterior keratoconus. Case report with scanning electron microscopy. Cornea (1995) 0.85
A deletion polymorphism due to Alu-Alu recombination in intron 2 of the retinoblastoma gene: association with human gliomas. Mol Carcinog (1997) 0.85
Optimization of formulations and conditions for the aerosol delivery of functional cationic lipid:DNA complexes. Hum Gene Ther (1997) 0.85
Structure and evolution of the mitochondrial DNA complete control region in the Drosophila subobscura subgroup. Insect Mol Biol (2001) 0.84
Video vision development assessment (VVDA): combining the Brückner test with eccentric photorefraction for dynamic identification of amblyogenic factors in infants and children. Trans Am Ophthalmol Soc (1994) 0.84
Intraocular extension of optic nerve meningioma in a case of neurofibromatosis. Arch Ophthalmol (1985) 0.84
Holoprosencephaly and endocrine dysgenesis in brothers. Am J Med Genet (1980) 0.83
Ultrasound for genetic counselling in polycystic kidney disease. Lancet (1977) 0.83
Relationships of scincid lizards (Mabuya spp; Reptilia: Scincidae) from the Cape Verde islands based on mitochondrial and nuclear DNA sequences. Mol Phylogenet Evol (2001) 0.83
Permanent genetic resources added to Molecular Ecology Resources Database 1 December 2011-31 January 2012. Mol Ecol Resour (2012) 0.82
Glaucoma in Sturge-Weber syndrome. Ophthalmology (1984) 0.82
Glaucoma due to endothelialization of the anterior chamber angle. A comparison of posterior polymorphous dystrophy of the cornea and Chandler's syndrome. Arch Ophthalmol (1980) 0.82
Waardenburg syndrome and meningocele. Am J Med Genet (1992) 0.82
An ivory vertebra: monostotic Paget's disease of bone. Clin Orthop Relat Res (1978) 0.81
Viruses and disease. II. An outbreak of parainfluenza Type 2 in a children's home. Am J Epidemiol (1968) 0.81
Familial congenital superior oblique palsy. Ophthalmology (1986) 0.81
[How accurate is the roentgen diagnosis of acute appendicitis in children]. Ann Radiol (Paris) (1976) 0.81
Molecular screening of nematodes in lacertid lizards from the Iberian Peninsula and Balearic Islands using 18S rRNA sequences. J Helminthol (2012) 0.81