Published in Trends Genet on May 01, 1999
The genetics of childhood cataract. J Med Genet (2000) 3.99
Molecular basis of a progressive juvenile-onset hereditary cataract. Proc Natl Acad Sci U S A (2000) 2.04
A juvenile-onset, progressive cataract locus on chromosome 3q21-q22 is associated with a missense mutation in the beaded filament structural protein-2. Am J Hum Genet (2000) 1.86
Autosomal-dominant congenital cataract associated with a deletion mutation in the human beaded filament protein gene BFSP2. Am J Hum Genet (2000) 1.82
Lens gap junctions in growth, differentiation, and homeostasis. Physiol Rev (2010) 1.70
Heparan sulfate chains of perlecan are indispensable in the lens capsule but not in the kidney. EMBO J (2003) 1.53
Investigation of crystallin genes in familial cataract, and report of two disease associated mutations. Br J Ophthalmol (2004) 1.49
A novel alphaB-crystallin mutation associated with autosomal dominant congenital lamellar cataract. Invest Ophthalmol Vis Sci (2006) 1.34
Targeted ablation of NrCAM or ankyrin-B results in disorganized lens fibers leading to cataract formation. J Cell Biol (2001) 1.14
A locus for isolated cataract on human Xp. J Med Genet (2002) 1.11
Conversion and compensatory evolution of the gamma-crystallin genes and identification of a cataractogenic mutation that reverses the sequence of the human CRYGD gene to an ancestral state. Am J Hum Genet (2007) 1.10
Rho GDP dissociation inhibitor-mediated disruption of Rho GTPase activity impairs lens fiber cell migration, elongation and survival. Dev Biol (2008) 1.07
Selective requirements for E2f3 in the development and tumorigenicity of Rb-deficient chimeric tissues. Mol Cell Biol (2007) 1.07
Dominant cataracts result from incongruous mixing of wild-type lens connexins. J Cell Biol (2003) 1.03
Connexin mutations in skin disease and hearing loss. Am J Hum Genet (2001) 1.03
Polycystic kidneys and chronic inflammatory lesions are the delayed consequences of loss of the suppressor of cytokine signaling-1 (SOCS-1). Proc Natl Acad Sci U S A (2002) 0.96
A novel form of "central pouchlike" cataract, with sutural opacities, maps to chromosome 15q21-22. Am J Hum Genet (2000) 0.95
Apoptosis gene profiling reveals spatio-temporal regulated expression of the p53/Mdm2 pathway during lens development. Exp Eye Res (2009) 0.93
Heat shock proteins in the human eye. Int J Proteomics (2011) 0.86
Efficient generation of lens progenitor cells from cataract patient-specific induced pluripotent stem cells. PLoS One (2012) 0.86
Functional characterization of an AQP0 missense mutation, R33C, that causes dominant congenital lens cataract, reveals impaired cell-to-cell adhesion. Exp Eye Res (2013) 0.84
Prevention of posterior capsular opacification through cyclooxygenase-2 inhibition. Mol Vis (2007) 0.83
Ocular tissue engineering: current and future directions. J Funct Biomater (2015) 0.78
FE65 and FE65L1 amyloid precursor protein-binding protein compound null mice display adult-onset cataract and muscle weakness. FASEB J (2015) 0.77
Mutation analysis of the ferritin L-chain gene in age-related cataract. Mol Vis (2010) 0.77
Evaluation of advanced glycation end-products in diabetic and inherited canine cataracts. Graefes Arch Clin Exp Ophthalmol (2007) 0.76
Fibrosis in the lens. Sprouty regulation of TGFβ-signaling prevents lens EMT leading to cataract. Exp Eye Res (2015) 0.76
Enhancement of ubiquitin conjugation activity reduces intracellular aggregation of V76D mutant γD-crystallin. Invest Ophthalmol Vis Sci (2012) 0.75
Phenotypes of Recessive Pediatric Cataract in a Cohort of Children with Identified Homozygous Gene Mutations (An American Ophthalmological Society Thesis). Trans Am Ophthalmol Soc (2015) 0.75
Disruption of Rest Leads to the Early Onset of Cataracts with the Aberrant Terminal Differentiation of Lens Fiber Cells. PLoS One (2016) 0.75
Clinical features and natural history of von Hippel-Lindau disease. Q J Med (1990) 4.71
An essential role for p300/CBP in the cellular response to hypoxia. Proc Natl Acad Sci U S A (1996) 4.57
An analysis of 11,196 burn admissions and evaluation of conservative management techniques. Burns (2002) 4.42
Signaling through the JAK/STAT pathway, recent advances and future challenges. Gene (2002) 4.15
The genetics of childhood cataract. J Med Genet (2000) 3.99
A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q. Am J Hum Genet (1998) 3.64
Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy. Nat Genet (1993) 3.62
Drip breast milk: it's composition, collection and pasteurization. Early Hum Dev (1977) 3.47
A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11). Mol Cell (2001) 3.07
Effect of B vitamins and genetics on success of in-vitro fertilisation: prospective cohort study. Lancet (2006) 3.01
A new locus for autosomal dominant retinitis pigmentosa on chromosome 7p. Nat Genet (1993) 2.97
Prediction of probable genes by Fourier analysis of genomic sequences. Comput Appl Biosci (1997) 2.96
Connexin46 mutations in autosomal dominant congenital cataract. Am J Hum Genet (1999) 2.79
Missense mutations in MIP underlie autosomal dominant 'polymorphic' and lamellar cataracts linked to 12q. Nat Genet (2000) 2.77
Smoking and age related macular degeneration: the number of pack years of cigarette smoking is a major determinant of risk for both geographic atrophy and choroidal neovascularisation. Br J Ophthalmol (2006) 2.67
Maternal and perinatal consequences of antepartum haemorrhage of unknown origin. BJOG (2013) 2.64
Cardiac malformations, adrenal agenesis, neural crest defects and exencephaly in mice lacking Cited2, a new Tfap2 co-activator. Nat Genet (2001) 2.60
Toward a complete linkage map of the human X chromosome: regional assignment of 16 cloned single-copy DNA sequences employing a panel of somatic cell hybrids. Am J Hum Genet (1984) 2.58
Nutrient availability and the RAS/cyclic AMP pathway both induce expression of ribosomal protein genes in Saccharomyces cerevisiae but by different mechanisms. Mol Cell Biol (1995) 2.56
Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus homogeneity tests. Proc Natl Acad Sci U S A (1990) 2.50
The effect of chemical treatments of albumin and orosomucoid on rate of clearance from the rat bloodstream and rate of pinocytic capture of rat yolk sac cultured in vitro. Biochem J (1977) 2.36
Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly. Am J Hum Genet (1998) 2.34
Assisted reproductive technology in Europe, 2008: results generated from European registers by ESHRE. Hum Reprod (2012) 2.28
Clinical effectiveness of elective single versus double embryo transfer: meta-analysis of individual patient data from randomised trials. BMJ (2010) 2.19
Bgl II RFLP recognized by a human IRBP cDNA localized to chromosome 10. Nucleic Acids Res (1987) 2.15
X linked retinoschisis. Br J Ophthalmol (1995) 2.13
Obesity as an independent risk factor for elective and emergency caesarean delivery in nulliparous women--systematic review and meta-analysis of cohort studies. Obes Rev (2008) 2.08
PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humans. Nat Genet (2001) 2.05
Assisted reproductive technology in Europe, 2006: results generated from European registers by ESHRE. Hum Reprod (2010) 2.04
Effect of overweight and obesity on assisted reproductive technology--a systematic review. Hum Reprod Update (2007) 1.96
Maternal sepsis: a Scottish population-based case-control study. BJOG (2012) 1.95
The p27 catalytic subunit of the apolipoprotein B mRNA editing enzyme is a cytidine deaminase. J Biol Chem (1993) 1.93
Clinical features in affected individuals from 21 pedigrees with dominant optic atrophy. Arch Ophthalmol (1998) 1.93
Assisted reproductive technology in Europe, 2009: results generated from European registers by ESHRE. Hum Reprod (2013) 1.91
Genetic linkage of cone-rod retinal dystrophy to chromosome 19q and evidence for segregation distortion. Nat Genet (1994) 1.91
Are we overusing IVF? BMJ (2014) 1.90
Protamine sulfate enhances lipid-mediated gene transfer. Gene Ther (1997) 1.86
Evolutionary origins of apoB mRNA editing: catalysis by a cytidine deaminase that has acquired a novel RNA-binding motif at its active site. Cell (1995) 1.86
Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy. Hum Mol Genet (1998) 1.84
Rapid detection of single base mismatches as heteroduplexes on Hydrolink gels. Trends Genet (1991) 1.83
A completed screen for mutations of the rhodopsin gene in a panel of patients with autosomal dominant retinitis pigmentosa. Hum Mol Genet (1992) 1.80
Assisted reproductive technology in Europe, 2004: results generated from European registers by ESHRE. Hum Reprod (2008) 1.78
Clinical and genetic heterogeneity in autosomal dominant cataract. Br J Ophthalmol (1999) 1.77
Maternal and perinatal outcome in women with threatened miscarriage in the first trimester: a systematic review. BJOG (2009) 1.77
The cone dysfunction syndromes. Br J Ophthalmol (2004) 1.76
Phenotypic expression in von Hippel-Lindau disease: correlations with germline VHL gene mutations. J Med Genet (1996) 1.76
Spontaneous cholecystocutaneous fistula. HPB (Oxford) (2001) 1.75
Functional impairment of lens aquaporin in two families with dominantly inherited cataracts. Hum Mol Genet (2000) 1.73
Clinical features in affected males with X-linked retinoschisis. Arch Ophthalmol (1996) 1.73
IsK and KvLQT1: mutation in either of the two subunits of the slow component of the delayed rectifier potassium channel can cause Jervell and Lange-Nielsen syndrome. Hum Mol Genet (1997) 1.72
Does miscarriage in an initial pregnancy lead to adverse obstetric and perinatal outcomes in the next continuing pregnancy? BJOG (2008) 1.71
Identification of a sixth locus for autosomal dominant retinitis pigmentosa on chromosome 19. Hum Mol Genet (1994) 1.71
Linkage mapping in 29 Bardet-Biedl syndrome families confirms loci in chromosomal regions 11q13, 15q22.3-q23, and 16q21. Genomics (1997) 1.70
A study on coverage, compliance and awareness about mass drug administration for elimination of lymphatic filariasis in a district of West Bengal, India. J Vector Borne Dis (2011) 1.69
A novel GJA8 mutation is associated with autosomal dominant lamellar pulverulent cataract: further evidence for gap junction dysfunction in human cataract. J Med Genet (2006) 1.68
Transverse-momentum and pseudorapidity distributions of charged hadrons in pp collisions at square root of s = 7 TeV. Phys Rev Lett (2010) 1.67
Extracapsular cataract surgery with lens implantation in diabetics with and without proliferative retinopathy. Br J Ophthalmol (1991) 1.67
Clinical characteristics of ocular angiomatosis in von Hippel-Lindau disease and correlation with germline mutation. Arch Ophthalmol (1999) 1.64
Structure and content of the Entamoeba histolytica genome. Adv Parasitol (2007) 1.62
Permeability and enterotoxic factors of nonagglutinable vibrios Vibrio alcaligenes and Vibrio parahaemolyticus. Appl Microbiol (1971) 1.58
A locus for autosomal dominant posterior polar cataract on chromosome 1p. Hum Mol Genet (1997) 1.57
Study of the mass and spin-parity of the Higgs boson candidate via its decays to Z boson pairs. Phys Rev Lett (2013) 1.56
Safety, efficacy and biological predictors of response to sequential azacitidine and lenalidomide for elderly patients with acute myeloid leukemia. Leukemia (2011) 1.55
Abetalipoproteinemia is caused by defects of the gene encoding the 97 kDa subunit of a microsomal triglyceride transfer protein. Hum Mol Genet (1993) 1.54
An exploration of the association between male body mass index and semen quality. Reprod Biomed Online (2011) 1.53
Escherichia coli cytidine deaminase provides a molecular model for ApoB RNA editing and a mechanism for RNA substrate recognition. J Mol Biol (1998) 1.53
Heterogeneity of dystrophin expression in patients with Duchenne and Becker muscular dystrophy. Acta Neuropathol (1990) 1.52
Preoperative chemotherapy and the outcome of liver resection for colorectal metastases. World J Surg (2007) 1.52
A locus for autosomal dominant anterior polar cataract on chromosome 17p. Hum Mol Genet (1996) 1.51
Outcomes following hysterectomy or endometrial ablation for heavy menstrual bleeding: retrospective analysis of hospital episode statistics in Scotland. BJOG (2011) 1.49
Dystrophin in skeletal muscle. II. Immunoreactivity in patients with Xp21 muscular dystrophy. J Neurol Sci (1989) 1.48
Lineage-specific signaling in melanocytes. C-kit stimulation recruits p300/CBP to microphthalmia. J Biol Chem (1998) 1.47
Molecular detection of micrometastases and circulating tumor cells in solid tumors. Clin Cancer Res (1999) 1.46
Congenital progressive polymorphic cataract caused by a mutation in the major intrinsic protein of the lens, MIP (AQP0). Br J Ophthalmol (2000) 1.45
Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the alpha subunit of cone transducin (GNAT2). J Med Genet (2002) 1.44
Detection of tyrosinase mRNA by reverse transcription-polymerase chain reaction in melanoma sentinel nodes. Ann Surg Oncol (1999) 1.44
Achromatopsia caused by novel mutations in both CNGA3 and CNGB3. J Med Genet (2004) 1.44
Genomic heterogeneity in synchronous hepatocellular carcinomas. Gut (1999) 1.44
Mononuclear blood cell magnesium content and serum magnesium concentration in critically ill hypomagnesemic patients after replacement therapy. Nutrition (1997) 1.41
Palmitoylation of bovine opsin and its cysteine mutants in COS cells. Proc Natl Acad Sci U S A (1993) 1.41
Molecular genetic analysis of the 3p- syndrome. Hum Mol Genet (1994) 1.40
A(1) or A(3) adenosine receptors induce late preconditioning against infarction in conscious rabbits by different mechanisms. Circ Res (2001) 1.40
Functional correlates of fundus autofluorescence abnormalities in patients with RPGR or RIMS1 mutations causing cone or cone rod dystrophy. Br J Ophthalmol (2007) 1.40
Pyomyositis: a diagnostic problem. J Indian Med Assoc (2007) 1.39
Early diagnosis of acute myocardial infarction with use of a rapid immunochemical assay of creatine kinase MB isoenzyme. Clin Chem (1993) 1.38
Pleuropulmonary paragonimiasis due to Paragonimus heterotremus: molecular diagnosis, prevalence of infection and clinicoradiological features in an endemic area of northeastern India. Trans R Soc Trop Med Hyg (2007) 1.36
Characterization of cationic lipid-protamine-DNA (LPD) complexes for intravenous gene delivery. Gene Ther (1998) 1.36