Published in Am J Hum Genet on January 01, 1990
Associations between mutations and a VNTR in the human phenylalanine hydroxylase gene. Am J Hum Genet (1992) 1.41
Application of natural and amplification created restriction sites for the diagnosis of PKU mutations. Nucleic Acids Res (1991) 1.41
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
Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlations. Am J Hum Genet (1997) 1.25
Multiple origins for phenylketonuria in Europe. Am J Hum Genet (1992) 1.17
Recurrent mutation in the human phenylalanine hydroxylase gene. Am J Hum Genet (1990) 1.02
Mutation detection in phenylketonuria by using chemical cleavage of mismatch: importance of using probes from both normal and patient samples. Am J Hum Genet (1991) 1.01
Phenylketonuria in U.S. blacks: molecular analysis of the phenylalanine hydroxylase gene. Am J Hum Genet (1991) 0.98
Screening for mutations in the phenylalanine hydroxylase gene from Italian patients with phenylketonuria by using the chemical cleavage method: a new splice mutation. Am J Hum Genet (1991) 0.97
Comparison of genotype and intellectual phenotype in untreated PKU patients. J Med Genet (1993) 0.94
Founder effect of a prevalent phenylketonuria mutation in the Oriental population. Proc Natl Acad Sci U S A (1991) 0.92
Genetic analysis of treated and untreated phenylketonuria in one family. J Med Genet (1990) 0.92
A termination mutant prevalent in Norwegian haplotype 7 phenylketonuria genes. Am J Hum Genet (1990) 0.90
Classical phenylketonuria in Bulgaria: RFLP haplotypes and frequency of the major mutations. J Med Genet (1990) 0.85
Phenylketonuria in Italy: distinct distribution pattern of three mutations of the phenylalanine hydroxylase gene. J Inherit Metab Dis (1997) 0.83
Molecular heterogeneity at the phenylalanine hydroxylase locus in the population of the south-west of England. J Med Genet (1991) 0.82
Silent mutations in the phenylalanine hydroxylase gene as an aid to the diagnosis of phenylketonuria. J Med Genet (1991) 0.78
Genetic background of clinical homogeneity of phenylketonuria in Poland. J Med Genet (1993) 0.76
Phenylketonuria: variable phenotypic outcomes of the R261Q mutation and maternal PKU in the offspring of a healthy homozygote. J Med Genet (1993) 0.76
Molecular analysis of contiguous exons of the phenylalanine hydroxylase gene: identification of a new PKU mutation. J Med Genet (1993) 0.75
Chorioretinal post-transplant lymphoproliferative disorder induced by the Epstein-Barr virus. Br J Ophthalmol (2001) 0.75
New M13 vectors for cloning. Methods Enzymol (1983) 90.74
Oligonucleotide-directed mutagenesis of DNA fragments cloned into M13 vectors. Methods Enzymol (1983) 17.47
A SIMPLE PHENYLALANINE METHOD FOR DETECTING PHENYLKETONURIA IN LARGE POPULATIONS OF NEWBORN INFANTS. Pediatrics (1963) 14.49
Human GM-CSF: molecular cloning of the complementary DNA and purification of the natural and recombinant proteins. Science (1985) 8.72
Nucleotide sequence of a full-length complementary DNA clone and amino acid sequence of human phenylalanine hydroxylase. Biochemistry (1985) 4.78
Extensive restriction site polymorphism at the human phenylalanine hydroxylase locus and application in prenatal diagnosis of phenylketonuria. Am J Hum Genet (1985) 3.77
Tight linkage between a splicing mutation and a specific DNA haplotype in phenylketonuria. Nature (1986) 3.29
Cloned human phenylalanine hydroxylase gene allows prenatal diagnosis and carrier detection of classical phenylketonuria. Nature (1984) 2.82
Polymorphic DNA haplotypes at the human phenylalanine hydroxylase locus and their relationship with phenylketonuria. Hum Genet (1987) 2.73
Screening for phenylketonuria mutations by DNA amplification with the polymerase chain reaction. Lancet (1988) 2.67
Molecular structure and polymorphic map of the human phenylalanine hydroxylase gene. Biochemistry (1986) 2.49
An amino-acid substitution involved in phenylketonuria is in linkage disequilibrium with DNA haplotype 2. Nature (1987) 2.37
Inheritance of allelic blueprints for methylation patterns. Cell (1988) 2.00
GT to AT transition at a splice donor site causes skipping of the preceding exon in phenylketonuria. Nucleic Acids Res (1987) 1.86
Polysome immunoprecipitation of phenylalanine hydroxylase mRNA from rat liver and cloning of its cDNA. Proc Natl Acad Sci U S A (1982) 1.69
Clinical and molecular heterogeneity of phenylalanine hydroxylase deficiencies in France. Am J Hum Genet (1988) 1.66
Hyperphenylalaninemia: diagnosis and classification of the various types of phenylalanine hydroxylase deficiency in childhood. Acta Paediatr Scand Suppl (1980) 1.65
Prenatal diagnosis of classic phenylketonuria by DNA analysis. Lancet (1985) 1.64
Molecular genetics of phenylketonuria in Mediterranean countries: a mutation associated with partial phenylalanine hydroxylase deficiency. Am J Hum Genet (1989) 1.58
Phenylalanine hydroxylase deficiency caused by a single base substitution in an exon of the human phenylalanine hydroxylase gene. Biochemistry (1988) 1.50
Gene transfer and expression of human phenylalanine hydroxylase. Science (1985) 1.46
Polymorphic DNA haplotypes at the phenylalanine hydroxylase (PAH) locus in European families with phenylketonuria (PKU). Am J Hum Genet (1989) 1.41
Hybridization of genomic DNA to oligonucleotide probes in the presence of tetramethylammonium chloride. Methods Enzymol (1987) 1.28
Phenylketonuria: distribution of DNA diagnostic patterns in German families. Hum Genet (1988) 1.24
Correlation between polymorphic DNA haplotypes at phenylalanine hydroxylase locus and clinical phenotypes of phenylketonuria. J Pediatr (1987) 1.22
Molecular basis and population genetics of phenylketonuria. Biochemistry (1989) 1.22
Linkage disequilibrium between mutation and RFLP haplotype at the phenylalanine hydroxylase locus in the German population. Hum Genet (1988) 1.18
Haplotype distribution of the human phenylalanine hydroxylase locus in Scotland and Switzerland. Am J Hum Genet (1989) 1.17
Linkage disequilibrium between RFLP haplotype 2 and the affected PAH allele in PKU families from the Berlin area of the German Democratic Republic. Hum Genet (1988) 1.11
Mendelian hyperphenylalaninemia. Annu Rev Genet (1988) 1.07
Phenylalanine hydroxylase expression in liver of a fetus with phenylketonuria. J Pediatr (1988) 0.94
The UCSC Genome Browser Database: 2008 update. Nucleic Acids Res (2007) 23.13
LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development. Cell (2001) 11.99
The UCSC Genome Browser Database: update 2009. Nucleic Acids Res (2008) 10.31
Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK). Am J Med Genet (1998) 7.68
Nucleotide sequence of a full-length complementary DNA clone and amino acid sequence of human phenylalanine hydroxylase. Biochemistry (1985) 4.78
Sexual problems among women and men aged 40-80 y: prevalence and correlates identified in the Global Study of Sexual Attitudes and Behaviors. Int J Impot Res (2005) 4.61
Regulation of synaptic responses to high-frequency stimulation and LTP by neurotrophins in the hippocampus. Nature (1996) 4.41
alpha 1-antitrypsin deficiency detection by direct analysis of the mutation in the gene. Nature (1983) 4.38
Strong association between malnutrition, inflammation, and atherosclerosis in chronic renal failure. Kidney Int (1999) 4.25
Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Cell (1993) 4.13
Renal and intestinal absorptive defects in mice lacking the NHE3 Na+/H+ exchanger. Nat Genet (1998) 3.96
Extensive restriction site polymorphism at the human phenylalanine hydroxylase locus and application in prenatal diagnosis of phenylketonuria. Am J Hum Genet (1985) 3.77
Complete sequence of the cDNA for human alpha 1-antitrypsin and the gene for the S variant. Biochemistry (1984) 3.75
A motivational interviewing intervention to increase fruit and vegetable intake through Black churches: results of the Eat for Life trial. Am J Public Health (2001) 3.37
Tight linkage between a splicing mutation and a specific DNA haplotype in phenylketonuria. Nature (1986) 3.29
Assessment of recombinant adenoviral vectors for hepatic gene therapy. Hum Gene Ther (1993) 3.02
Aerobic glycolysis during lymphocyte proliferation. Nature (1976) 2.94
Cloned human phenylalanine hydroxylase gene allows prenatal diagnosis and carrier detection of classical phenylketonuria. Nature (1984) 2.82
Polymorphic DNA haplotypes at the human phenylalanine hydroxylase locus and their relationship with phenylketonuria. Hum Genet (1987) 2.73
DNA sequencing with dye-labeled terminators and T7 DNA polymerase: effect of dyes and dNTPs on incorporation of dye-terminators and probability analysis of termination fragments. Nucleic Acids Res (1992) 2.71
Complete nucleotide sequence of the chicken chromosomal ovalbumin gene and its biological significance. Biochemistry (1981) 2.67
Screening for phenylketonuria mutations by DNA amplification with the polymerase chain reaction. Lancet (1988) 2.67
Regional mapping of the phenylalanine hydroxylase gene and the phenylketonuria locus in the human genome. Proc Natl Acad Sci U S A (1985) 2.58
The ovalbumin gene: alleles created by mutations in the intervening sequences of the natural gene. Cell (1979) 2.56
A sensitive and rapid method for recombinant phage screening. Methods Enzymol (1979) 2.52
Molecular structure and polymorphic map of the human phenylalanine hydroxylase gene. Biochemistry (1986) 2.49
Complete genome sequence of the genetically tractable hydrogenotrophic methanogen Methanococcus maripaludis. J Bacteriol (2004) 2.47
Homozygosity mapping of the gene for alkaptonuria to chromosome 3q2. Nat Genet (1993) 2.44
Preparation and preliminary characterization of purified ovalbumin messenger RNA from the hen oviduct. Biochemistry (1975) 2.42
Molecular basis of phenotypic heterogeneity in phenylketonuria. N Engl J Med (1991) 2.40
Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome. Nat Genet (1997) 2.40
An amino-acid substitution involved in phenylketonuria is in linkage disequilibrium with DNA haplotype 2. Nature (1987) 2.37
TLR engagement prevents transplantation tolerance. Am J Transplant (2006) 2.36
The importance of quadriceps and hamstring muscle loading on knee kinematics and in-situ forces in the ACL. J Biomech (1999) 2.31
Activation of ZAP-70 kinase activity by phosphorylation of tyrosine 493 is required for lymphocyte antigen receptor function. EMBO J (1995) 2.31
Physical and chemical characterization of purified ovalbumin messenger RNA. J Biol Chem (1975) 2.28
A transforming growth factor beta type I receptor that signals to activate gene expression. Science (1994) 2.26
Definition of 5' and 3' structural boundaries of the chromatin domain containing the ovalbumin multigene family. J Biol Chem (1982) 2.22
Maxi-K channels contribute to urinary potassium excretion in the ROMK-deficient mouse model of Type II Bartter's syndrome and in adaptation to a high-K diet. Kidney Int (2006) 2.22
Mouse hepatocytes migrate to liver parenchyma and function indefinitely after intrasplenic transplantation. Proc Natl Acad Sci U S A (1991) 2.19
Influences of flexor sheath continuity and early motion on tendon healing in dogs. J Hand Surg Am (1990) 2.14
Validation of three food frequency questionnaires and 24-hour recalls with serum carotenoid levels in a sample of African-American adults. Am J Epidemiol (2000) 2.11
A frameshift mutation results in a truncated alpha 1-antitrypsin that is retained within the rough endoplasmic reticulum. J Biol Chem (1988) 2.11
The synthesis and properties of the complete complementary DNA transcript of ovalbumin mRNA. Biochemistry (1976) 2.08
The cellular DNA polymerase alpha-primase is required for papillomavirus DNA replication and associates with the viral E1 helicase. Proc Natl Acad Sci U S A (1994) 2.04
Down-regulation of the filamentous actin cross-linking activity of cortactin by Src-mediated tyrosine phosphorylation. J Biol Chem (1997) 2.04
DNA restriction fragments associated with alpha 1-antitrypsin indicate a single origin for deficiency allele PI Z. Nature (1985) 2.03
Should formal ophthalmologic evaluation be a preoperative requirement prior to blepharoplasty? Arch Otolaryngol Head Neck Surg (2001) 2.01
The chick ovomucoid gene contains at least six intervening sequences. Nature (1979) 2.01
Pyridoxal 5'-phosphate may be curative in early-onset epileptic encephalopathy. J Inherit Metab Dis (2006) 1.98
Prospective comparison treatment of 595-nm pulsed-dye lasers for virgin port-wine stain. Br J Dermatol (2015) 1.96
A new method for determining cross-sectional shape and area of soft tissues. J Biomech Eng (1988) 1.96
Genetic linkage of the Marfan syndrome, ectopia lentis, and congenital contractural arachnodactyly to the fibrillin genes on chromosomes 15 and 5. The International Marfan Syndrome Collaborative Study. N Engl J Med (1992) 1.95
The gastrins: their production and biological activities. Annu Rev Physiol (2001) 1.93
Hepatic gene therapy: persistent expression of human alpha 1-antitrypsin in mice after direct gene delivery in vivo. Hum Gene Ther (1992) 1.92
Association between CYP2D6 *10 genotype and survival of breast cancer patients receiving tamoxifen treatment. Ann Oncol (2008) 1.92
Assignment of the alpha 1-antitrypsin gene and a sequence-related gene to human chromosome 14 by molecular hybridization. Am J Hum Genet (1983) 1.91
Cloning and sequence of cDNA coding for alpha 1-antitrypsin. Proc Natl Acad Sci U S A (1981) 1.91
The development of mature gait. J Bone Joint Surg Am (1980) 1.91
Viscoelastic response of the rat loading model: implications for studies of strain-adaptive bone formation. Bone (1999) 1.90
Effects of postmortem storage by freezing on ligament tensile behavior. J Biomech (1986) 1.89
Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13. Am J Hum Genet (1996) 1.89
Ehlers-Danlos syndrome type IV: a multi-exon deletion in one of the two COL3A1 alleles affecting structure, stability, and processing of type III procollagen. J Biol Chem (1988) 1.88
Mechanism of quinolone resistance in Staphylococcus aureus. J Infect Chemother (2000) 1.88
Nascent chicken ovalbumin contains the functional equivalent of a signal sequence. J Cell Biol (1978) 1.88
Molecularly cloned SHIV-1157ipd3N4: a highly replication- competent, mucosally transmissible R5 simian-human immunodeficiency virus encoding HIV clade C Env. J Virol (2006) 1.87
GT to AT transition at a splice donor site causes skipping of the preceding exon in phenylketonuria. Nucleic Acids Res (1987) 1.86
Polymerase chain reaction amplification from dried blood spots on Guthrie cards. Lancet (1990) 1.86
Cysteine in the triple-helical domain of one allelic product of the alpha 1(I) gene of type I collagen produces a lethal form of osteogenesis imperfecta. J Biol Chem (1984) 1.84
Effects of immobilization on joints. Clin Orthop Relat Res (1987) 1.84
Identification of a mutation that causes exon skipping during collagen pre-mRNA splicing in an Ehlers-Danlos syndrome variant. J Biol Chem (1988) 1.83
Reliability and validity of the Panic Disorder Severity Scale: replication and extension. J Psychiatr Res (2001) 1.82
Hepatitis B virus transactivator X protein is not tumorigenic in transgenic mice. J Virol (1990) 1.80
Nanometer size diesel exhaust particles are selectively toxic to dopaminergic neurons: the role of microglia, phagocytosis, and NADPH oxidase. FASEB J (2004) 1.79
The natural ovalbumin gene contains seven intervening sequences. Nature (1978) 1.79
Identification of multiple species of calmodulin messenger RNA using a full length complementary DNA. J Biol Chem (1983) 1.79
Ovalbumin is synthesized in mouse cells transformed with the natural chicken ovalbumin gene. Proc Natl Acad Sci U S A (1980) 1.77
Creation and diagnosis of a solid-density plasma with an X-ray free-electron laser. Nature (2012) 1.74
Dietary change through African American churches: baseline results and program description of the eat for life trial. J Cancer Educ (2000) 1.73
Lowering reperfusion pressure reduces the injury after pulmonary ischemia. Ann Thorac Surg (2000) 1.73
Accumulation of PiZ alpha 1-antitrypsin causes liver damage in transgenic mice. J Clin Invest (1989) 1.72
Sequence homology and structural comparison between the chromosomal human alpha 1-antitrypsin and chicken ovalbumin genes. Nature (1982) 1.70
Evidence for a structural mutation of procollagen type I in a patient with the Ehlers-Danlos syndrome type VII. J Biol Chem (1980) 1.69
Polysome immunoprecipitation of phenylalanine hydroxylase mRNA from rat liver and cloning of its cDNA. Proc Natl Acad Sci U S A (1982) 1.69
Molecular cloning of ovomucoid gene sequences from partially purified ovomucoid messenger RNA. Biochemistry (1978) 1.67
The RNA structures engaged in replication and transcription of the A59 strain of mouse hepatitis virus. J Gen Virol (2001) 1.66
Regulation of casein messenger RNA during the development of the rat mammary gland. Biochemistry (1975) 1.66
In vitro and in vivo estrogenicity of UV screens. Environ Health Perspect (2001) 1.65
Lethal osteogenesis imperfecta resulting from a single nucleotide change in one human pro alpha 1(I) collagen allele. Proc Natl Acad Sci U S A (1986) 1.65
What are the basic functions of microfilaments? Insights from studies in budding yeast. J Cell Biol (1994) 1.64
Prenatal diagnosis of classic phenylketonuria by DNA analysis. Lancet (1985) 1.64
Chitinase gene expression during mycoparasitic interaction of Trichoderma harzianum with its host. Fungal Genet Biol (1999) 1.64
Nonlinear material properties of intact cornea and sclera. Exp Eye Res (1972) 1.63
Help-seeking behaviour for sexual problems: the global study of sexual attitudes and behaviors. Int J Clin Pract (2005) 1.63