Published in Ann Genet on January 01, 1999
Genomewide linkage scan for myopia susceptibility loci among Ashkenazi Jewish families shows evidence of linkage on chromosome 22q12. Am J Hum Genet (2004) 1.48
Genomewide scan in Ashkenazi Jewish families demonstrates evidence of linkage of ocular refraction to a QTL on chromosome 1p36. Hum Genet (2006) 1.28
An international collaborative family-based whole-genome linkage scan for high-grade myopia. Invest Ophthalmol Vis Sci (2009) 1.25
Molecular genetics of human myopia: an update. Optom Vis Sci (2009) 1.18
A comparison of refractive development between two subspecies of infant rhesus monkeys (Macaca mulatta). Vision Res (2007) 0.96
Linkage analysis of high myopia susceptibility locus in 26 families. Mol Vis (2008) 0.90
Dissecting the genetics of human high myopia: a molecular biologic approach. Trans Am Ophthalmol Soc (2004) 0.89
Identification of novel suggestive loci for high-grade myopia in Polish families. Mol Vis (2011) 0.76
Dissecting the genetic heterogeneity of myopia susceptibility in an Ashkenazi Jewish population using ordered subset analysis. Mol Vis (2011) 0.75
GEL, a DNA sequencing project management system. Nucleic Acids Res (1982) 18.85
SEQ: a nucleotide sequence analysis and recombination system. Nucleic Acids Res (1982) 8.73
Patients' action during their cardiac event: qualitative study exploring differences and modifiable factors. BMJ (1998) 7.00
Restricted use of T cell receptor V genes in murine autoimmune encephalomyelitis raises possibilities for antibody therapy. Cell (1988) 4.47
Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis. Nat Genet (1996) 3.51
A multifactor complex of eukaryotic initiation factors, eIF1, eIF2, eIF3, eIF5, and initiator tRNA(Met) is an important translation initiation intermediate in vivo. Genes Dev (2000) 3.39
Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations. J Med Genet (2005) 2.24
Encephalitogenic T cells in the B10.PL model of experimental allergic encephalomyelitis (EAE) are of the Th-1 lymphokine subtype. Cell Immunol (1989) 2.22
Inflammatory leukocytes and cytokines in the peptide-induced disease of experimental allergic encephalomyelitis in SJL and B10.PL mice. Proc Natl Acad Sci U S A (1992) 2.16
Multiple roles for the C-terminal domain of eIF5 in translation initiation complex assembly and GTPase activation. EMBO J (2001) 2.06
Survey of resistance of herpes simplex virus to acyclovir in northwest England. Antimicrob Agents Chemother (1998) 1.89
Intracellular ferritin accumulation in neural and extraneural tissue characterizes a neurodegenerative disease associated with a mutation in the ferritin light polypeptide gene. J Neuropathol Exp Neurol (2004) 1.76
Actin. Protein Profile (1995) 1.55
A genome wide scan for familial high myopia suggests a novel locus on chromosome 7q36. J Med Genet (2002) 1.48
OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract. J Med Genet (2004) 1.42
Correlation of apomorphine- and amphetamine-induced turning with nigrostriatal dopamine content in unilateral 6-hydroxydopamine lesioned rats. Brain Res (1993) 1.40
Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia. Hum Mutat (2006) 1.37
A special feeding technique for chronic regurgitation. Am J Ment Defic (1974) 1.35
Vasculotropin-VEGF stimulates retinal capillary endothelial cells through an autocrine pathway. Invest Ophthalmol Vis Sci (1994) 1.31
An analysis of the prevalence and incidence of gynecologic cancer cytologically detected in a population of 175,767 women. Acta Cytol (1970) 1.21
Theoretical variance analysis of single- and dual-energy computed tomography methods for calculating proton stopping power ratios of biological tissues. Phys Med Biol (2010) 1.16
Identification of a new locus for isolated familial keratoconus at 2p24. J Med Genet (2005) 1.10
Vasculotropin/vascular endothelial growth factor is an autocrine growth factor for human retinal pigment epithelial cells cultured in vitro. J Cell Physiol (1995) 1.10
Fission yeast homolog of murine Int-6 protein, encoded by mouse mammary tumor virus integration site, is associated with the conserved core subunits of eukaryotic translation initiation factor 3. J Biol Chem (2000) 1.08
Structural and ultrastructural changes in the developmental process of premature infants' and children's corneas. Cornea (1994) 1.07
Fuzzy logic in computer-aided breast cancer diagnosis: analysis of lobulation. Artif Intell Med (1997) 1.02
Confirmation of RAX gene involvement in human anophthalmia. Clin Genet (2008) 1.01
A multifactor complex of eIF1, eIF2, eIF3, eIF5, and tRNA(i)Met promotes initiation complex assembly and couples GTP hydrolysis to AUG recognition. Cold Spring Harb Symp Quant Biol (2001) 1.01
Mapping of spinocerebellar ataxia 13 to chromosome 19q13.3-q13.4 in a family with autosomal dominant cerebellar ataxia and mental retardation. Am J Hum Genet (2000) 1.01
Tositumomab and iodine I 131 tositumomab for recurrent indolent and transformed B-cell non-Hodgkin's lymphoma. J Clin Oncol (2004) 1.00
Identification of Mycobacterium DNA in an Egyptian Pott's disease of 5,400 years old. C R Acad Sci III (1998) 1.00
Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia. Eur J Hum Genet (2001) 0.99
Saccharomyces cerevisiae protein Pci8p and human protein eIF3e/Int-6 interact with the eIF3 core complex by binding to cognate eIF3b subunits. J Biol Chem (2001) 0.99
22q11 deletion in DGS/VCFS monozygotic twins with discordant phenotypes. Genet Couns (1999) 0.99
Association of kettin with actin in the Z-disc of insect flight muscle. J Mol Biol (1999) 0.98
A multipoint linkage analysis program for X-linked disorders, with the example of Duchenne muscular dystrophy and seven DNA probes. Hum Genet (1986) 0.98
G1 phase arrest by the phosphatidylinositol 3-kinase inhibitor LY 294002 is correlated to up-regulation of p27Kip1 and inhibition of G1 CDKs in choroidal melanoma cells. FEBS Lett (1998) 0.97
Visual outcome after paediatric cataract surgery: is age a major factor? Br J Ophthalmol (1998) 0.96
Structure and physical mapping of DR1, a TATA-binding protein-associated phosphoprotein gene, to chromosome 1p22.1 and its exclusion in Stargardt disease (STGD). Genomics (1996) 0.95
New highly polymorphic microsatellite marker in linkage disequilibrium with HLA-B. Hum Immunol (1996) 0.94
A prospective randomized trial of topical soluble 0.1% indomethacin versus 0.1% diclofenac versus placebo for the control of pain following excimer laser photorefractive keratectomy. Ophthalmic Surg Lasers (1998) 0.94
Differential expression of G1 cyclins and cyclin-dependent kinase inhibitors in normal and transformed melanocytes. Invest Ophthalmol Vis Sci (1998) 0.94
Genetic aspects of breast cancer. Br Med Bull (1991) 0.94
Overexpression of vascular endothelial growth factor induces cell transformation in cooperation with fibroblast growth factor 2. Oncogene (1997) 0.94
Autocrine regulation of bovine retinal capillary endothelial cell (BREC) proliferation by BREC-derived basic fibroblast growth factor. Exp Eye Res (1989) 0.93
Partial duplication [dup. TCAC (178)] and novel point mutations (T125M, G188R, A209V, and H302L) of the ornithine transcarbamylase gene in congenital hyperammonemia. Hum Mutat (1996) 0.93
Sequence and expression of the kettin gene in Drosophila melanogaster and Caenorhabditis elegans. J Mol Biol (2000) 0.93
Giant retinal tears. Surgical techniques and results using perfluorodecalin and silicone oil tamponade. Retina (1992) 0.93
X-linked and autosomal recessive Hypohidrotic Ectodermal Dysplasia: genotypic-dental phenotypic findings. Clin Genet (2010) 0.92
N-myc oncogene amplification in rhabdomyosarcoma at release. Lancet (1986) 0.92
Review of the safety and efficacy of long-term NSAID use in the treatment of canine osteoarthritis. Vet Rec (2010) 0.92
Enlarged follicles in women using oral contraceptives. Contraception (1995) 0.91
Acute cigarette smoke exposure increases alveolar permeability in rabbits. Am Rev Respir Dis (1985) 0.91
Mutation analysis of the STRA6 gene in isolated and non-isolated anophthalmia/microphthalmia. Clin Genet (2012) 0.91
Evidence-based care: can we overcome the barriers? Br J Nurs (1999) 0.90
Molecular characterisation of a ring chromosome 22 in a patient with severe language delay: a contribution to the refinement of the subtelomeric 22q deletion syndrome. J Med Genet (2002) 0.90
Pituitary apoplexy: retrospective review of 30 patients--is surgical intervention always necessary? Br J Neurosurg (2006) 0.89
Comparative studies between a new human rhabdomyosarcoma cell line, JR-1 and its tumour of origin. Br J Cancer (1986) 0.89
Increased aneuploidy in spermatozoa from testicular tumour patients after chemotherapy with cisplatin, etoposide and bleomycin. Hum Reprod (2001) 0.89
A mutation at codon 279 (N279K) in exon 10 of the Tau gene causes a tauopathy with dementia and supranuclear palsy. Acta Neuropathol (1999) 0.89
Fabry's disease: heterozygous form of different expression in two monozygous twin sisters. Dermatology (1993) 0.89
A 3-base pair in-frame deletion in exon 8 (delGlu272/273) of the ornithine transcarbamylase gene in late-onset hyperammonemic coma. Hum Mutat (1996) 0.88
Overexpression of the myristoylated alanine-rich C kinase substrate in human choroidal melanoma cells affects cell proliferation. Cancer Res (1998) 0.88
Drosophila ACT88F indirect flight muscle-specific actin is not N-terminally acetylated: a mutation in N-terminal processing affects actin function. J Mol Biol (2000) 0.87
An audit of immunisation status of sickle cell patients in Coventry, UK. J Clin Pathol (2009) 0.87
Rapid identification of mitochondrial DNA (mtDNA) mutations in neuromuscular disorders by using surveyor strategy. Mitochondrion (2007) 0.86
Tumor necrosis factor polymorphism in multiple sclerosis: no additional association independent of HLA. J Neuroimmunol (1994) 0.86
Anonymous markers located on chromosome 6 in the HLA-A class I region: allelic distribution in genetic haemochromatosis. Hum Genet (1992) 0.86
Microsatellites in the HLA region: HLA prediction and strategies for bone marrow donor registries. Transplant Proc (2001) 0.85
Natural autoantibodies in nude and normal outbred (Swiss) and inbred (BALB/c) mice. J Autoimmun (1989) 0.85
Matrix metalloproteinase 14 overexpression reduces corneal scarring. Gene Ther (2010) 0.85
HLA-E is the only class I gene that escapes CpG methylation and is transcriptionally active in the trophoblast-derived human cell line JAR. Immunogenetics (1993) 0.84
[Corneal collagen cross-linking with ultraviolet-A light and riboflavin for the treatment of progressive keratoconus]. J Fr Ophtalmol (2009) 0.83
Production of monoclonal antibodies using spleen cells from nude mice bearing human tumors. Ann Pathol (1987) 0.83
[Diagnosis of ocular toxoplasmosis with the immunoenzyme ELISA technique]. Ophtalmologie (1991) 0.83
[Predictive factors for successful Ferrara intracorneal ring segment implantation in keratoconus]. J Fr Ophtalmol (2011) 0.83
Does kV-MV dual-energy computed tomography have an advantage in determining proton stopping power ratios in patients? Phys Med Biol (2011) 0.83
[Deep anterior lamellar keratoplasty in the surgical treatment of keratoconus. A 1-year follow-up]. J Fr Ophtalmol (2006) 0.83
The reduction of itch during burn wound healing. J Burn Care Rehabil (2001) 0.83
Mitotic chromosomal anomalies among infertile men. Hum Reprod (1997) 0.82
A [c.566-2A>G] heterozygous mutation in the PAX6 gene causes aniridia with mild visual impairment. Eye (Lond) (2011) 0.82
Retrovirus-mediated transfer of a suicide gene into lens epithelial cells in vitro and in an experimental model of posterior capsule opacification. Curr Eye Res (1999) 0.82
Physiological growth hormone secretion and response to growth hormone treatment in children with short stature and intrauterine growth retardation. Acta Paediatr Scand Suppl (1989) 0.82
Severe hypernatremic dehydration in an infant with Netherton syndrome. Genet Couns (2001) 0.81
Implication of stem cell factor in the proliferation of choroidal melanocytes. Exp Eye Res (2001) 0.81
Opposing effects of basic fibroblast growth factor and transforming growth factor-beta on the proliferation of cultured bovine retinal capillary endothelial (BREC) cells. Exp Eye Res (1989) 0.81
The major myristoylated PKC substrate (MARCKS) is involved in cell spreading, tyrosine phosphorylation of paxillin, and focal contact formation. FEBS Lett (1997) 0.81
Molecular characterization of a cryptic 2q37 deletion in a patient with Albright hereditary osteodystrophy-like phenotype. Am J Med Genet A (2004) 0.81
HLA -A, -B, -DR haplotype frequencies in France--implications for recruitment of potential bone marrow donors. Transplantation (1995) 0.81
t(9;11)(p22;q23) translocation in blastic phase of chronic myeloid leukemia. Cancer Genet Cytogenet (1992) 0.80
Correlations between computed tomography findings and family history in otosclerotic patients. Otol Neurotol (2001) 0.80
Novel B3GALTL mutation in Peters-plus Syndrome. Clin Genet (2009) 0.80
Mutations in EDARADD account for a small proportion of hypohidrotic ectodermal dysplasia cases. Br J Dermatol (2010) 0.80