Genetic variants of frizzled-4 gene in familial exudative vitreoretinopathy and advanced retinopathy of prematurity.

PubWeight™: 1.01‹?› | Rank: Top 15%

🔗 View Article (PMID 15733276)

Published in Clin Genet on April 01, 2005

Authors

M L E MacDonald, Y P Goldberg, J Macfarlane, M E Samuels, M T Trese, B S Shastry

Articles citing this

Current update on retinopathy of prematurity: screening and treatment. Curr Opin Pediatr (2011) 1.50

Retinopathy of prematurity and maternal age. Retina (2010) 1.45

Impact of GPCRs in clinical medicine: monogenic diseases, genetic variants and drug targets. Biochim Biophys Acta (2006) 1.15

Genetic susceptibility to advanced retinopathy of prematurity (ROP). J Biomed Sci (2010) 1.03

Genetic contributions to the development of retinopathy of prematurity. Pediatr Res (2009) 1.01

Next-generation sequencing and novel variant determination in a cohort of 92 familial exudative vitreoretinopathy patients. Invest Ophthalmol Vis Sci (2015) 0.99

Identification of FZD4 and LRP5 mutations in 11 of 49 families with familial exudative vitreoretinopathy. Mol Vis (2012) 0.91

Genetic screening of Wnt signaling factors in advanced retinopathy of prematurity. Mol Vis (2010) 0.89

Genetic variants of FZD4 and LRP5 genes in patients with advanced retinopathy of prematurity. Mol Vis (2013) 0.87

Genetic variants associated with severe retinopathy of prematurity in extremely low birth weight infants. Invest Ophthalmol Vis Sci (2014) 0.83

Analysis of candidate genes for macular telangiectasia type 2. Mol Vis (2010) 0.82

[Mutations of the frizzled-4 gene. Their impact on medical care of patients with autosomal dominant exudative vitreoretinopathy]. Ophthalmologe (2008) 0.81

Genomics in the neonatal nursery: Focus on ROP. Semin Perinatol (2015) 0.78

Fzd4 Haploinsufficiency Delays Retinal Revascularization in the Mouse Model of Oxygen Induced Retinopathy. PLoS One (2016) 0.75

Complex genetics of familial exudative vitreoretinopathy and related pediatric retinal detachments. Taiwan J Ophthalmol (2015) 0.75

Articles by these authors

Specific interaction of a purified transcription factor with an internal control region of 5S RNA genes. Cell (1980) 10.87

Eukaryotic gene transcription with purified components. Methods Enzymol (1983) 9.71

The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease. Nat Genet (1993) 5.82

Pulmonary actinomycosis. Eur Respir J (2003) 3.80

The binding of a transcription factor to deletion mutants of a 5S ribosomal RNA gene. Cell (1981) 3.15

Interstitial deletion of (17)(p11.2p11.2) in nine patients. Am J Med Genet (1986) 3.12

Multiple factors involved in the transcription of class III genes in Xenopus laevis. J Biol Chem (1982) 2.75

Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm. Nat Genet (1994) 2.31

Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations. Clin Genet (2007) 2.15

HIP1, a human homologue of S. cerevisiae Sla2p, interacts with membrane-associated huntingtin in the brain. Nat Genet (1997) 2.09

Lens-sparing vitreous surgery for tractional stage 4A retinopathy of prematurity retinal detachments. Ophthalmology (2001) 1.99

A CCG repeat polymorphism adjacent to the CAG repeat in the Huntington disease gene: implications for diagnostic accuracy and predictive testing. Hum Mol Genet (1994) 1.97

Visual acuity of eyes after vitrectomy for retinopathy of prematurity: follow-up at 5 1/2 years. The Cryotherapy for Retinopathy of Prematurity Cooperative Group. Ophthalmology (1996) 1.87

Contribution of DNA sequence and CAG size to mutation frequencies of intermediate alleles for Huntington disease: evidence from single sperm analyses. Hum Mol Genet (1997) 1.82

Vitrectomy for diffuse diabetic macular edema associated with a taut premacular posterior hyaloid. Am J Ophthalmol (2000) 1.76

The Drosophila female-specific sex-determination gene, Sex-lethal, has stage-, tissue-, and sex-specific RNAs suggesting multiple modes of regulation. Genes Dev (1989) 1.70

A comparison of dense versus less dense diode laser photocoagulation patterns for threshold retinopathy of prematurity. Ophthalmology (2000) 1.69

A mammalian oocyte-specific linker histone gene H1oo: homology with the genes for the oocyte-specific cleavage stage histone (cs-H1) of sea urchin and the B4/H1M histone of the frog. Development (2001) 1.63

Patient characteristics associated with hospitalizations for ambulatory care sensitive conditions in South Carolina. South Med J (1999) 1.62

Telemedical evaluation and management of retinopathy of prematurity using a fiberoptic digital fundus camera. Ophthalmology (2000) 1.57

A comparison of visual results and complications in eyes with posterior chamber intraocular lens dislocation treated with pars plana vitrectomy and lens repositioning or lens exchange. Ophthalmology (2001) 1.55

Huntington disease without CAG expansion: phenocopies or errors in assignment? Am J Hum Genet (1994) 1.53

Altered levels of a 5 S gene-specific transcription factor (TFIIIA) during oogenesis and embryonic development of Xenopus laevis. J Biol Chem (1984) 1.49

Huntingtin is ubiquitinated and interacts with a specific ubiquitin-conjugating enzyme. J Biol Chem (1996) 1.47

Removal of epimacular membranes. Ophthalmology (1985) 1.46

Sex-dependent mechanisms for expansions and contractions of the CAG repeat on affected Huntington disease chromosomes. Am J Hum Genet (1995) 1.43

Cosegregation of two unlinked mutant alleles in some cases of autosomal dominant familial exudative vitreoretinopathy. Eur J Hum Genet (2004) 1.42

DNA haplotype analysis of Huntington disease reveals clues to the origins and mechanisms of CAG expansion and reasons for geographic variations of prevalence. Hum Mol Genet (1994) 1.40

Supporting dental registrants in difficulty. Br Dent J (2015) 1.39

X-linked retinitis pigmentosa: report of a large kindred with loss of central vision and preserved peripheral function. Am J Med Genet (1995) 1.38

Visual acuity in infants after vitrectomy for severe retinopathy of prematurity. Ophthalmology (1991) 1.31

A 5-base insertion in the gammaC-crystallin gene is associated with autosomal dominant variable zonular pulverulent cataract. Hum Genet (2000) 1.31

Pharmacologic induction of posterior vitreous detachment in the rabbit. Arch Ophthalmol (1993) 1.28

Identification of missense mutations in the Norrie disease gene associated with advanced retinopathy of prematurity. Arch Ophthalmol (1997) 1.23

Molecular analysis of late onset Huntington's disease. J Med Genet (1993) 1.21

Macular pucker. I. Prognostic criteria. Graefes Arch Clin Exp Ophthalmol (1983) 1.17

Surgical management of vitreomacular traction syndromes. Ophthalmology (1989) 1.15

Rethinking genotype and phenotype correlations in polyglutamine expansion disorders. Hum Mol Genet (1997) 1.15

Ancestral differences in the distribution of the delta 2642 glutamic acid polymorphism is associated with varying CAG repeat lengths on normal chromosomes: insights into the genetic evolution of Huntington disease. Hum Mol Genet (1995) 1.13

Familial exudative vitreoretinopathy. Results of surgical management. Ophthalmology (1998) 1.13

Sex-lethal interacts with splicing factors in vitro and in vivo. Mol Cell Biol (1996) 1.12

Clinical course and surgical treatment of macular epiretinal membranes in young subjects. Ophthalmology (2001) 1.11

Lens-sparing vitreoretinal surgery in infants. Arch Ophthalmol (1992) 1.10

Single-use syringes. N Engl J Med (1991) 1.08

Vitrectomy for retained lens fragments after phacoemulsification. Ophthalmology (1997) 1.08

Successful closure of traumatic macular holes. Retina (1999) 1.07

Different mechanisms underlie DNA instability in Huntington disease and colorectal cancer. Am J Hum Genet (1997) 1.07

Silicone oil for the treatment of severe proliferative diabetic retinopathy. Ophthalmology (1989) 1.06

The incidence of corneal abnormalities in the Silicone Study. Silicone Study Report 7. Arch Ophthalmol (1995) 1.06

Surgical results of persistent hyperplastic primary vitreous. Ophthalmology (1999) 1.05

Genetic localization to chromosome 1p32 of the third locus for familial hypercholesterolemia in a Utah kindred. Arterioscler Thromb Vasc Biol (2000) 1.04

Adult retinopathy of prematurity: outcomes of rhegmatogenous retinal detachments and retinal tears. Ophthalmology (2001) 1.04

X-linked recessive familial exudative vitreoretinopathy. Am J Ophthalmol (1992) 1.03

Refractive changes associated with scleral buckling and division in retinopathy of prematurity. Arch Ophthalmol (1998) 1.03

Identification of novel missense mutations in the Norrie disease gene associated with one X-linked and four sporadic cases of familial exudative vitreoretinopathy. Hum Mutat (1997) 1.03

Silicone oil for advanced proliferative vitreoretinopathy. Ophthalmology (1986) 1.03

External versus internal approach to the removal of metallic intraocular foreign bodies. Retina (2000) 1.03

A Colombian family with X-linked juvenile retinoschisis with three affected females finding of a frameshift mutation. Ophthalmic Genet (1999) 1.01

Silicone oil in the repair of pediatric complex retinal detachments: a prospective, observational, multicenter study. Ophthalmology (1999) 1.01

Plasmin enzyme-assisted vitrectomy in traumatic pediatric macular holes. Ophthalmology (1998) 1.01

Agreement between grating acuity at age 1 year and Snellen acuity at age 5.5 years in the preterm child. Cryotherapy for Retinopathy of Prematurity Cooperative Group. Invest Ophthalmol Vis Sci (1999) 0.99

A transcription map of the region containing the Huntington disease gene. Hum Mol Genet (1993) 0.99

Home nebulizers in severe chronic asthma. Br J Dis Chest (1984) 0.99

The primary structure of the monoxygenase cytochrome P450CAM. Biochem Biophys Res Commun (1982) 0.99

Familial exudative vitreoretinopathy: further evidence for genetic heterogeneity. Am J Med Genet (1997) 0.98

Child day care risks of common infectious diseases revisited. Child Care Health Dev (2004) 0.98

Subretinal strands: ultrastructural features. Graefes Arch Clin Exp Ophthalmol (1985) 0.97

Differential 3' polyadenylation of the Huntington disease gene results in two mRNA species with variable tissue expression. Hum Mol Genet (1993) 0.97

Multiple field-induced phase transitions in the geometrically frustrated dipolar magnet: Gd(2) Ti(2)O(7). Phys Rev Lett (2002) 0.96

Study of the Norrie disease gene in 2 patients with bilateral persistent hyperplastic primary vitreous. Arch Ophthalmol (1998) 0.96

Insertion and deletion mutations in the dinucleotide repeat region of the Norrie disease gene in patients with advanced retinopathy of prematurity. J Hum Genet (2001) 0.95

Huntington disease: new insights into the relationship between CAG expansion and disease. Hum Mol Genet (1996) 0.94

Estimation of the prevalence of familial hypercholesterolaemia in a rural Afrikaner community by direct screening for three Afrikaner founder low density lipoprotein receptor gene mutations. Hum Genet (1996) 0.94

Reliability of Katz's Activities of Daily Living Scale when used in telephone interviews. Eval Health Prof (1993) 0.93

Enzyme-induced posterior vitreous detachment in the rat produces increased lens nuclear pO2 levels. Exp Eye Res (2008) 0.93

Issues at the interface between primary and secondary care in the management of common respiratory disease. Introduction. Thorax (1999) 0.93

Linkage and candidate gene analysis of X-linked familial exudative vitreoretinopathy. Genomics (1995) 0.93

Linkage and candidate gene analysis of autosomal-dominant familial exudative vitreoretinopathy. Clin Genet (2000) 0.92

Iris atrophy, cataracts, and hypotony following peripheral ablation for threshold retinopathy of prematurity. Arch Ophthalmol (2001) 0.92

Incidence of retinal detachment and visual outcome in eyes presenting with posterior vitreous separation and dense fundus-obscuring vitreous hemorrhage. Ophthalmology (2001) 0.92

Autologous plasmin enzyme in the surgical management of diabetic retinopathy. Ophthalmology (2001) 0.92

An Alu element retroposition in two families with Huntington disease defines a new active Alu subfamily. Nucleic Acids Res (1993) 0.91

Predictors of positive radial margin status in a population-based cohort of patients with rectal cancer. Curr Oncol (2008) 0.90

Visual results and prognostic factors for vision following surgery for stage V retinopathy of prematurity. Ophthalmology (1986) 0.89

Economic impact of hospital closure on small rural counties, 1984 to 1988: demonstration of a comparative analysis approach. J Rural Health (1999) 0.88

Multiple forms of DNA-dependent RNA polymerases in Xenopus laevis. Rapid purification and structural and immunological properties. J Biol Chem (1983) 0.88

Lung biopsy. Br Med J (Clin Res Ed) (1985) 0.87

Retinal detachment in focal dermal hypoplasia. Eur J Ophthalmol (2004) 0.87

West Nile virus chorioretinitis. Br J Ophthalmol (2004) 0.86

The determinants of utilization of nonphysician providers in rural community and migrant health centers. J Rural Health (1993) 0.86

The unique N terminus of the herpes simplex virus type 1 large subunit is not required for ribonucleotide reductase activity. J Gen Virol (1992) 0.86

Accurate determination of the number of CAG repeats in the Huntington disease gene using a sequence-specific internal DNA standard. Clin Genet (1999) 0.85

Evidence for genetic heterogeneity in X-linked familial exudative vitreoretinopathy. Genomics (1997) 0.85

Antibiotic therapy, clinical features and outcome of 36 adults presenting to hospital with proven influenza: do we follow guidelines? Postgrad Med J (1991) 0.84