Published in Kidney Int on September 01, 1978
Crosstransplantation of kidneys in normal and Hyp mice. Evidence that the Hyp mouse phenotype is unrelated to an intrinsic renal defect. J Clin Invest (1992) 1.45
Renal Na(+)-phosphate cotransport in murine X-linked hypophosphatemic rickets. Molecular characterization. J Clin Invest (1994) 1.22
The Gy mutation: another cause of X-linked hypophosphatemia in mouse. Proc Natl Acad Sci U S A (1986) 1.14
Evidence for an intrinsic renal tubular defect in mice with genetic hypophosphatemic rickets. J Clin Invest (1979) 1.08
Evaluation of a role for 1,25-dihydroxyvitamin D3 in the pathogenesis and treatment of X-linked hypophosphatemic rickets and osteomalacia. J Clin Invest (1980) 1.03
Impaired phosphorus conservation and 1,25 dihydroxyvitamin D generation during phosphorus deprivation in familial hypophosphatemic rickets. J Clin Invest (1983) 0.96
X-linked hypophosphatemia: the mutant gene is expressed in teeth as well as in kidney. Am J Hum Genet (1990) 0.93
Renal adaptation to a low phosphate diet in rats. J Clin Invest (1979) 0.92
Gene mapping of mineral metabolic disorders. J Inherit Metab Dis (1989) 0.88
Increased renal catabolism of 1,25-dihydroxyvitamin D3 in murine X-linked hypophosphatemic rickets. J Clin Invest (1988) 0.87
Alkaline phosphatase activity does not mediate phosphate transport in the renal-cortical brush-border membrane. Biochem J (1980) 0.87
Primary cultures of renal epithelial cells from X-linked hypophosphatemic (Hyp) mice express defects in phosphate transport and vitamin D metabolism. Am J Hum Genet (1988) 0.87
Calcitonin stimulation of renal 25-hydroxyvitamin D-1 alpha-hydroxylase activity in hypophosphatemic mice. Evidence that the regulation of calcitriol production is not universally abnormal in X-linked hypophosphatemia. J Clin Invest (1987) 0.83
Lysinuric protein intolerance mutation is expressed in the plasma membrane of cultured skin fibroblasts. Proc Natl Acad Sci U S A (1987) 0.79
Healing of rickets with phosphate supplementation in the hypophosphatemic male mouse. J Clin Invest (1981) 0.78
Normal regulation of calcitriol production in Gy mice. Evidence for biochemical heterogeneity in the X-linked hypophosphatemic diseases. J Clin Invest (1990) 0.75
It's not just how low you make it, but how you make it low. West J Med (1981) 0.75
X-linked hypophosphatemia (familial or sex-linked vitamin-D-resistant rickets). X-linked hypophosphatemic (Hyp) mice. Am J Pathol (1985) 0.75
The William Allan Memorial Award address: On phosphate transport and genetic screening. "Understanding backward--living forward" in human genetics. Am J Hum Genet (1979) 0.75
Bone histomorphometry: standardization of nomenclature, symbols, and units. Report of the ASBMR Histomorphometry Nomenclature Committee. J Bone Miner Res (1987) 24.27
LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development. Cell (2001) 11.99
Retinal stem cells in the adult mammalian eye. Science (2000) 3.97
A rapid procedure for extracting genomic DNA from leukocytes. Nucleic Acids Res (1991) 3.89
Advocacy and compliance in genetic screening. Behavior of physicians and clients in a voluntary program of testing for the Tay-Sachs gene. N Engl J Med (1974) 3.47
Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor. Cell (1997) 3.42
Targeted inactivation of Npt2 in mice leads to severe renal phosphate wasting, hypercalciuria, and skeletal abnormalities. Proc Natl Acad Sci U S A (1998) 3.24
Targeted inactivation of the 25-hydroxyvitamin D(3)-1(alpha)-hydroxylase gene (CYP27B1) creates an animal model of pseudovitamin D-deficiency rickets. Endocrinology (2001) 2.87
Ocular retardation mouse caused by Chx10 homeobox null allele: impaired retinal progenitor proliferation and bipolar cell differentiation. Nat Genet (1996) 2.75
A one-hit model of cell death in inherited neuronal degenerations. Nature (2000) 2.65
The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase. Nature (1992) 2.64
Hypophosphatemia: mouse model for human familial hypophosphatemic (vitamin D-resistant) rickets. Proc Natl Acad Sci U S A (1976) 2.59
De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis. Nat Genet (1998) 2.53
The use of biochemical data in screening for mutant alleles and in genetic counselling. Ann Hum Genet (1974) 2.43
A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene. Am J Hum Genet (1998) 2.29
Knowledge about and attitudes toward genetic screening among high-school students: the Tay-Sachs experience. Pediatrics (1977) 2.29
Beta-thalassemia disease prevention: genetic medicine applied. Am J Hum Genet (1984) 2.27
The frequency of genetic disease and congenital malformation among patients in a pediatric hospital. Can Med Assoc J (1973) 2.22
The effect of Mendelian disease on human health: a measurement. Am J Med Genet (1985) 2.18
Transient tyrosinemia of the newborn: dietary and clinical aspects. Pediatrics (1967) 2.15
Human microphthalmia associated with mutations in the retinal homeobox gene CHX10. Nat Genet (2000) 2.13
Screening, counselling and treatment of hereditary metabolic disease; a survey of resources in Canada. Can Med Assoc J (1974) 2.11
Photoreceptor peripherin is the normal product of the gene responsible for retinal degeneration in the rds mouse. Proc Natl Acad Sci U S A (1991) 2.11
Deficient mineralization of intramembranous bone in vitamin D-24-hydroxylase-ablated mice is due to elevated 1,25-dihydroxyvitamin D and not to the absence of 24,25-dihydroxyvitamin D. Endocrinology (2000) 2.08
A private view of heterozygosity: eight-year follow-up study on carriers of the Tay-Sachs gene detected by high school screening in Montreal. Am J Med Genet (1984) 2.04
Developmental expression of a novel murine homeobox gene (Chx10): evidence for roles in determination of the neuroretina and inner nuclear layer. Neuron (1994) 2.02
Cost-benefit analysis of a thalassemia disease prevention program. Am J Public Health (1985) 1.99
The HUGO Mutation Database Initiative. Science (1998) 1.95
Twenty-year outcome analysis of genetic screening programs for Tay-Sachs and beta-thalassemia disease carriers in high schools. Am J Hum Genet (1996) 1.94
Carrier screening for Tay-Sachs disease. Lancet (1990) 1.92
On the application of knowledge to the patient with genetic disease. Prog Med Genet (1973) 1.84
Some physical-chemical properties of chicken gamma-globulins and their pepsin and papain digestion products. Immunochemistry (1966) 1.82
Rom-1 is required for rod photoreceptor viability and the regulation of disk morphogenesis. Nat Genet (2000) 1.80
Osteoblasts isolated from mouse calvaria initiate matrix mineralization in culture. J Cell Biol (1983) 1.80
Increased expression of the c-fos proto-oncogene in bone from patients with fibrous dysplasia. N Engl J Med (1995) 1.78
Osteogenesis imperfecta type VII: an autosomal recessive form of brittle bone disease. Bone (2002) 1.77
Science's neglected legacy. Nature (2000) 1.77
Common acute lymphocytic leukemia antigen is identical to neutral endopeptidase. J Exp Med (1988) 1.77
Cloning of the cDNA for a novel photoreceptor membrane protein (rom-1) identifies a disk rim protein family implicated in human retinopathies. Neuron (1992) 1.76
Linkage disequilibrium analysis in young populations: pseudo-vitamin D-deficiency rickets and the founder effect in French Canadians. Am J Hum Genet (1996) 1.68
Proof of "disease causing" mutation. Hum Mutat (1998) 1.68
What young people think and do when the option for cystic fibrosis carrier testing is available. J Med Genet (1993) 1.68
Perinatal metabolism of vitamin D. Am J Clin Nutr (2000) 1.67
Genetics and Medicine: an evolving relationship. Science (1978) 1.65
Pamidronate treatment of severe osteogenesis imperfecta in children under 3 years of age. J Clin Endocrinol Metab (2000) 1.65
Distribution of mutations in the PEX gene in families with X-linked hypophosphataemic rickets (HYP). Hum Mol Genet (1997) 1.64
Pax-6, Prox 1, and Chx10 homeobox gene expression correlates with phenotypic fate of retinal precursor cells. Invest Ophthalmol Vis Sci (1997) 1.62
Pex/PEX tissue distribution and evidence for a deletion in the 3' region of the Pex gene in X-linked hypophosphatemic mice. J Clin Invest (1997) 1.61
Mepe, the gene encoding a tumor-secreted protein in oncogenic hypophosphatemic osteomalacia, is expressed in bone. Genomics (2001) 1.60
The 25-hydroxyvitamin D 1-alpha-hydroxylase gene maps to the pseudovitamin D-deficiency rickets (PDDR) disease locus. J Bone Miner Res (1997) 1.53
E. coli host strains significantly affect the quality of small scale plasmid DNA preparations used for sequencing. Nucleic Acids Res (1993) 1.53
Two novel 1alpha-hydroxylase mutations in French-Canadians with vitamin D dependency rickets type I1. Kidney Int (1998) 1.51
Replacement therapy for inherited enzyme deficiency: liver orthotopic transplantation in Niemann-Pick disease type A. Am J Med Genet (1977) 1.51
Recommendations for locus-specific databases and their curation. Hum Mutat (2008) 1.49
Loss of a parathyroid hormone-sensitive component of phosphate transport in X-linked hypophosphatemia. Science (1972) 1.48
Static and dynamic bone histomorphometry in children with osteogenesis imperfecta. Bone (2000) 1.46
Use of phosphate and vitamin D to prevent dwarfism and rickets in X-linked hypophosphatemia. N Engl J Med (1972) 1.46
The defect in transcellular transport of phosphate in the nephron is located in brush-border membranes in X-linked hypophosphatemia (Hyp mouse model). Can J Biochem (1978) 1.45
Neonatal hypertyrosinemia and evidence for deficiency of ascorbic acid in Arctic and subarctic peoples. Can Med Assoc J (1975) 1.42
cDNA cloning of the murine Pex gene implicated in X-linked hypophosphatemia and evidence for expression in bone. Genomics (1996) 1.41
Novel PKU mutation on haplotype 2 in French-Canadians. Am J Hum Genet (1989) 1.40
Serum 1,25-dihydroxyvitamin D levels in normal subjects and in patients with hereditary rickets or bone disease. N Engl J Med (1978) 1.40
Bone response to phosphate salts, ergocalciferol, and calcitriol in hypophosphatemic vitamin D-resistant rickets. N Engl J Med (1980) 1.37
[Tay-Sachs disease: prenatal detection and diagnosis]. Union Med Can (1972) 1.36
Labile methyl group balances in the human: the role of sarcosine. Metabolism (1980) 1.34
Endogenous renal clearance rates of free amino acids in pre-pubertal children. (Employing an accelerated procedure for elution chromatography of basic amino acids on ion exchange resin). Pediatrics (1965) 1.34
Barth syndrome: clinical observations and genetic linkage studies. Am J Med Genet (1994) 1.31
Developmental expression and tissue distribution of Phex protein: effect of the Hyp mutation and relationship to bone markers. J Bone Miner Res (2000) 1.30
Phenylketonuria: epitome of human biochemical genetics (first of two parts). N Engl J Med (1980) 1.30
Retinal degenerations with truncation mutations in the cone-rod homeobox (CRX) gene. Invest Ophthalmol Vis Sci (1998) 1.30
Collagen changes in the human uterine cervix at parturition. Am J Obstet Gynecol (1978) 1.30
Genetic variants of Tay-Sachs disease: Tay-Sachs disease and Sandhoff's disease in French Canadians, juvenile Tay-Sachs disease in Lebanese Canadians, and a Tay-Sachs screening program in the French-Canadian population. Prog Clin Biol Res (1977) 1.30
Relation between hypomineralized periosteocytic lesions and bone mineralization in vitamin D-resistant rickets. Calcif Tissue Int (1983) 1.30
Use of dithiothreitol to correct cystine storage in cultured cystinotic fibroblasts. Lancet (1970) 1.30
Vitamin D supplementation during pregnancy: effect on neonatal calcium homeostasis. J Pediatr (1986) 1.29
Interallelic complementation in an inborn error of metabolism: genetic heterogeneity in argininosuccinate lyase deficiency. Proc Natl Acad Sci U S A (1984) 1.29
Thiamine-responsive maple-syrup-urine disease. Lancet (1971) 1.29
The Tlx-2 homeobox gene is a downstream target of BMP signalling and is required for mouse mesoderm development. Development (1998) 1.29
Familial cold urticaria. Clin Exp Dermatol (1993) 1.29
Hyperparathyroidism as the cause of hyperaminoaciduria and phosphaturia in human vitamin D deficiency. Pediatr Res (1967) 1.29
Recurrent mutation, gene conversion, or recombination at the human phenylalanine hydroxylase locus: evidence in French-Canadians and a catalog of mutations. Am J Hum Genet (1990) 1.28
Phenylketonuria and other phenylalanine hydroxylation mutants in man. Annu Rev Genet (1980) 1.27
Management of hereditary metabolic disease. The role of allied health personnel. N Engl J Med (1971) 1.26
A different approach to treatment of phenylketonuria: phenylalanine degradation with recombinant phenylalanine ammonia lyase. Proc Natl Acad Sci U S A (1999) 1.25
Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlations. Am J Hum Genet (1997) 1.25
Vsx1, a rapidly evolving paired-like homeobox gene expressed in cone bipolar cells. Mech Dev (2001) 1.23
Alendronate for the treatment of pediatric osteogenesis imperfecta: a randomized placebo-controlled study. J Clin Endocrinol Metab (2010) 1.22
Outcome of early and long-term management of classical maple syrup urine disease. Pediatrics (1981) 1.22
PAH Mutation Analysis Consortium Database: a database for disease-producing and other allelic variation at the human PAH locus. Nucleic Acids Res (1996) 1.21
The characterization of hereditary abnormalities of keratin: Clouston's ectodermal dysplasia. Birth Defects Orig Artic Ser (1971) 1.20
Osteogenesis imperfecta--clinical and molecular diversity. Eur Cell Mater (2003) 1.20
Diagnosis and treatment: interpreting the positive screening test in the newborn infant. Pediatrics (1967) 1.20
Deficiency of rds/peripherin causes photoreceptor death in mouse models of digenic and dominant retinitis pigmentosa. Proc Natl Acad Sci U S A (2001) 1.19
Prevention of mental retardation in offspring of hyperphenylalaninemic mothers. Am J Public Health (1982) 1.19
Heterogeneity in genetic control of phenylalanine metabolism in man. Nature (1968) 1.19
Human argininosuccinate lyase: a structural basis for intragenic complementation. Proc Natl Acad Sci U S A (1997) 1.19
The mineralization density of iliac crest bone from children with osteogenesis imperfecta. Calcif Tissue Int (1999) 1.19