Published in Hum Mol Genet on April 01, 1999
Integration of the subarachnoid space and lymphatics: is it time to embrace a new concept of cerebrospinal fluid absorption? Cerebrospinal Fluid Res (2005) 1.47
Genetics of human hydrocephalus. J Neurol (2006) 1.36
Analyses of the effects that disease-causing missense mutations have on the structure and function of the winged-helix protein FOXC1. Am J Hum Genet (2001) 1.32
Molecular mechanisms of pituitary organogenesis: In search of novel regulatory genes. Mol Cell Endocrinol (2009) 1.25
Clinical and experimental advances in congenital and paediatric cataracts. Philos Trans R Soc Lond B Biol Sci (2011) 1.20
Glaucoma genetics. Int Ophthalmol Clin (2008) 1.17
PITX2 and FOXC1 spectrum of mutations in ocular syndromes. Eur J Hum Genet (2012) 1.10
Dissecting the genetic complexity of human 6p deletion syndromes by using a region-specific, phenotype-driven mouse screen. Proc Natl Acad Sci U S A (2005) 1.07
The gene for soluble N-ethylmaleimide sensitive factor attachment protein alpha is mutated in hydrocephaly with hop gait (hyh) mice. Proc Natl Acad Sci U S A (2004) 1.00
Phenotypic and molecular assessment of seven patients with 6p25 deletion syndrome: relevance to ocular dysgenesis and hearing impairment. BMC Med Genet (2004) 0.97
Minimal phenotype of mice homozygous for a null mutation in the forkhead/winged helix gene, Mf2. Mol Cell Biol (2000) 0.92
Generation of conditional alleles for Foxc1 and Foxc2 in mice. Genesis (2012) 0.92
The role of the forkhead transcription factor, Foxc1, in the development of the mouse lacrimal gland. Dev Dyn (2006) 0.87
Small ubiquitin-like modifier (SUMO) modification mediates function of the inhibitory domains of developmental regulators FOXC1 and FOXC2. J Biol Chem (2012) 0.86
Interaction between Foxc1 and Fgf8 during mammalian jaw patterning and in the pathogenesis of syngnathia. PLoS Genet (2013) 0.86
Ocular surface development and gene expression. J Ophthalmol (2013) 0.83
Identification of the first intragenic deletion of the PITX2 gene causing an Axenfeld-Rieger Syndrome: case report. BMC Med Genet (2006) 0.83
Essential structural and functional determinants within the forkhead domain of FOXC1. Nucleic Acids Res (2004) 0.82
Initiation of early osteoblast differentiation events through the direct transcriptional regulation of Msx2 by FOXC1. PLoS One (2012) 0.80
Identification of the cystic fibrosis gene: genetic analysis. Science (1989) 33.61
Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis. Nat Genet (1999) 17.09
Comparative analyses of multi-species sequences from targeted genomic regions. Nature (2003) 13.31
New goals for the U.S. Human Genome Project: 1998-2003. Science (1998) 8.30
Nonuniform recombination within the human beta-globin gene cluster. Am J Hum Genet (1984) 7.97
DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell (1991) 7.93
A DNA polymorphism discovery resource for research on human genetic variation. Genome Res (1998) 7.44
High-throughput variation detection and genotyping using microarrays. Genome Res (2001) 5.24
Automated construction of genetic linkage maps using an expert system (MultiMap): a human genome linkage map. Nat Genet (1994) 4.19
Hirschsprung disease, associated syndromes and genetics: a review. J Med Genet (2007) 4.13
Lumican regulates collagen fibril assembly: skin fragility and corneal opacity in the absence of lumican. J Cell Biol (1998) 3.78
Basic fallacies in the formulation of the paternity index. Am J Hum Genet (1985) 3.18
Schizophrenia susceptibility loci on chromosomes 13q32 and 8p21. Nat Genet (1998) 3.00
Evidence for increased recombination near the human insulin gene: implication for disease association studies. Proc Natl Acad Sci U S A (1986) 2.96
Molecular evidence for a relationship between LINE-1 elements and X chromosome inactivation: the Lyon repeat hypothesis. Proc Natl Acad Sci U S A (2000) 2.94
Estimating the prior probability of paternity from the results of exclusion tests. Forensic Sci Int (1984) 2.91
Similarity of DNA fingerprints due to chance and relatedness. Hum Hered (1993) 2.90
Parallel genotyping of human SNPs using generic high-density oligonucleotide tag arrays. Genome Res (2000) 2.79
Genetic mapping of autosomal dominant Charcot-Marie-Tooth disease in a large French-Acadian kindred: identification of new linked markers on chromosome 17. Am J Hum Genet (1990) 2.77
Patterns of polymorphism and linkage disequilibrium suggest independent origins of the human growth hormone gene cluster. Proc Natl Acad Sci U S A (1984) 2.47
Patterns of genetic variation in Mendelian and complex traits. Annu Rev Genomics Hum Genet (2000) 2.37
A genetic study of Hirschsprung disease. Am J Hum Genet (1990) 2.30
It's raining SNPs, hallelujah? Nat Genet (1998) 2.30
Evidence for reduced recombination on the nondisjoined chromosomes 21 in Down syndrome. Science (1987) 2.27
Evidence for multiple origins of the beta E-globin gene in Southeast Asia. Proc Natl Acad Sci U S A (1982) 2.24
Corneal opacity in lumican-null mice: defects in collagen fibril structure and packing in the posterior stroma. Invest Ophthalmol Vis Sci (2000) 2.10
Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11-q13): molecular diagnosis and mechanism of uniparental disomy. Hum Mol Genet (1993) 2.02
Recombination within and between the human insulin and beta-globin gene loci. Proc Natl Acad Sci U S A (1983) 1.82
Polymorphic DNA haplotypes at the LDL receptor locus. Am J Hum Genet (1989) 1.82
Allele frequency distributions in pooled DNA samples: applications to mapping complex disease genes. Genome Res (1998) 1.81
Mean and variance of FST in a finite number of incompletely isolated populations. Theor Popul Biol (1977) 1.79
Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients. Am J Hum Genet (1995) 1.78
Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient. Nat Genet (1996) 1.77
A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus. Proc Natl Acad Sci U S A (2000) 1.76
To a future of genetic medicine. Nature (2001) 1.70
Parental origin and phenotype of triploidy in spontaneous abortions: predominance of diandry and association with the partial hydatidiform mole. Am J Hum Genet (2000) 1.69
Linkage disequilibrium analysis of biallelic DNA markers, human quantitative trait loci, and threshold-defined case and control subjects. Am J Hum Genet (2000) 1.65
A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome). Nat Genet (1996) 1.65
Multipoint gene mapping using seriation. I. General methods. Am J Hum Genet (1987) 1.61
Detection of tandem duplications and implications for linkage analysis. Am J Hum Genet (1994) 1.60
Microsatellite polymorphism linkage map of human chromosome 13q. Genomics (1993) 1.56
Elevated frequency of Tay-Sachs disease among Ashkenazic Jews unlikely by genetic drift alone. Am J Hum Genet (1978) 1.55
The Sox10(Dom) mouse: modeling the genetic variation of Waardenburg-Shah (WS4) syndrome. Genome Res (1999) 1.53
Help of the fire brigade in a case of a strangulated penis. Ann R Coll Surg Engl (2001) 1.51
A genetic linkage map of 17 markers on human chromosome 21. Genomics (1989) 1.50
Estimation of the marker gene frequency and linkage disequilibrium from conditional marker data. Am J Hum Genet (1984) 1.50
The winged helix/forkhead transcription factor Foxq1 regulates differentiation of hair in satin mice. Genesis (2001) 1.44
A genetic linkage map of 27 markers on human chromosome 21. Genomics (1991) 1.43
Linkage analysis of the human HMG14 gene on chromosome 21 using a GT dinucleotide repeat as polymorphic marker. Genomics (1990) 1.43
Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease. Hum Mol Genet (1995) 1.43
Patterns of meiotic recombination on the long arm of human chromosome 21. Genome Res (2000) 1.40
Cutaneous malignant melanoma and familial dysplastic nevi: evidence for autosomal dominance and pleiotropy. Am J Hum Genet (1986) 1.39
Guidelines for human linkage maps: an international system for human linkage maps (ISLM, 1990). Genomics (1991) 1.37
Ocular complications of systemic cancer chemotherapy. Surv Ophthalmol (1990) 1.36
Cloning of the cDNA for a human homologue of the Drosophila white gene and mapping to chromosome 21q22.3. Am J Hum Genet (1996) 1.32
DNA polymorphism haplotypes of the human apolipoprotein APOA1-APOC3-APOA4 gene cluster. Hum Genet (1988) 1.32
Drift variances of FST and GST statistics obtained from a finite number of isolated populations. Theor Popul Biol (1977) 1.31
Haplotype and interspersion analysis of the FMR1 CGG repeat identifies two different mutational pathways for the origin of the fragile X syndrome. Hum Mol Genet (1996) 1.27
A linkage map of human chromosome 21:43 PCR markers at average intervals of 2.5 cM. Genomics (1993) 1.26
Genetics and biology of human ovarian teratomas. I. Cytogenetic analysis and mechanism of origin. Am J Hum Genet (1990) 1.26
Guidelines for human linkage maps. An International System for Human Linkage Maps (ISLM, 1990). Ann Hum Genet (1991) 1.25
Elevated frequency and allelic heterogeneity of congenital nephrotic syndrome, Finnish type, in the old order Mennonites. Am J Hum Genet (1999) 1.25
Genetics and biology of human ovarian teratomas. II. Molecular analysis of origin of nondisjunction and gene-centromere mapping of chromosome I markers. Am J Hum Genet (1990) 1.25
The tetranucleotide repeat polymorphism D21S1245 demonstrates hypermutability in germline and somatic cells. Hum Mol Genet (1995) 1.23
Infectious crystalline keratopathy. Role of nutritionally variant streptococci and other bacterial factors. Ophthalmology (1991) 1.23
Multipoint gene mapping using seriation. II. Analysis of simulated and empirical data. Am J Hum Genet (1987) 1.21
Genetic epidemiology of rheumatoid arthritis. Am J Hum Genet (1995) 1.19
Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations. Hum Mol Genet (1997) 1.18
Interleukin 4 and T helper type 2 cells are required for development of experimental onchocercal keratitis (river blindness). J Exp Med (1995) 1.18
Genetic linkage map of fishes of the genus Xiphophorus (Teleostei: Poeciliidae). Genetics (1991) 1.16
IL-12 exacerbates helminth-mediated corneal pathology by augmenting inflammatory cell recruitment and chemokine expression. J Immunol (1997) 1.16
Utility and efficiency of linked marker genes for genetic counseling. II. Identification of linkage phase by offspring phenotypes. Am J Hum Genet (1982) 1.15
Visual outcome in eight cases of Serratia marcescens keratitis. Am J Ophthalmol (1981) 1.13
Cloning of a novel homeobox-containing gene, PKNOX1, and mapping to human chromosome 21q22.3. Genomics (1997) 1.12
A study of restriction fragment length polymorphisms at the human alpha-1-antitrypsin locus. Hum Genet (1985) 1.11
The end of the beginning: the race to begin human genome sequencing. Genome Res (1996) 1.10
Linkage mapping of the highly informative DNA marker D21S156 to human chromosome 21 using a polymorphic GT dinucleotide repeat. Genomics (1990) 1.08
Genome-wide association analysis of coffee drinking suggests association with CYP1A1/CYP1A2 and NRCAM. Mol Psychiatry (2011) 1.08
EDNRB/EDN3 and Hirschsprung disease type II. Pigment Cell Res (2001) 1.08
A strategy for using multiple linked markers for genetic counseling. Am J Hum Genet (1985) 1.08
Topical fluoroquinolones: antimicrobial activity and in vitro corneal epithelial toxicity. Curr Eye Res (1991) 1.07
Lack of association between a biallelic polymorphism in the adducin gene and blood pressure in whites and African Americans. Am J Hypertens (2000) 1.07
DNA profile similarity in a subdivided population. Hum Hered (1994) 1.06
Effect of mycotoxins and coumarins on the growth of Bacillus megaterium from spores. J Agric Food Chem (1972) 1.05
A new dinucleotide repeat polymorphism at the telomere of chromosome 21q reveals a significant difference between male and female rates of recombination. Am J Hum Genet (1995) 1.05
Optisol corneal storage medium. Am J Ophthalmol (1992) 1.05
The fate of 12 recessive mutations in a single village. Ann Hum Genet (2007) 1.03
Ocular toxicity of topical antifungal agents. Arch Ophthalmol (1981) 1.03
Ex vivo metabolic analysis of eye bank corneas using phosphorus nuclear magnetic resonance. Arch Ophthalmol (1984) 1.03
Fragile X founder effect? Nat Genet (1992) 1.02
Herpetic ganglionic latency. Aciclovir and vidarabine therapy. Arch Ophthalmol (1979) 1.02
An essential role for antibody in neutrophil and eosinophil recruitment to the cornea: B cell-deficient (microMT) mice fail to develop Th2-dependent, helminth-mediated keratitis. J Immunol (1999) 1.02
Isolation of a marker linked to the Charcot-Marie-Tooth disease type IA gene by differential Alu-PCR of human chromosome 17-retaining hybrids. Am J Hum Genet (1990) 1.01
Infectious crystalline keratopathy associated with topical anesthetic abuse. Cornea (1990) 1.01
Genomic variation in multigenic traits: Hirschsprung disease. Cold Spring Harb Symp Quant Biol (2003) 1.00
Reduced recombination rate on chromosomes 21 that have undergone nondisjunction. Cold Spring Harb Symp Quant Biol (1986) 1.00
IL-6 gene variation is not associated with increased serum levels of IL-6, muscle, weakness, or frailty in older women. Exp Gerontol (2005) 0.99
Utility and efficiency of linked marker genes for genetic counseling. III. Proportion of informative families under linkage disequilibrium. Am J Hum Genet (1983) 0.98
Detection of human papillomavirus DNA sequences in conjunctival papilloma. Am J Ophthalmol (1983) 0.97
Rhinoentomophthoromycosis due to Conidiobolus coronatus. A case report and an overview of the disease in India. Med Mycol (2010) 0.97