Published in Am J Hum Genet on May 01, 1998
X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein. Nat Genet (1996) 3.90
Characterization of the split hand/split foot malformation locus SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb development. Hum Mol Genet (1996) 2.29
EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) with a balanced reciprocal translocation between 7q11.21 and 9p12 (or 7p11.2 and 9q12) in three generations. Clin Genet (1991) 1.96
Hypohidrotic ectodermal dysplasia in females. A critical analysis and argument for genetic heterogeneity. Z Kinderheilkd (1970) 1.38
The gene responsible for Clouston hidrotic ectodermal dysplasia maps to the pericentromeric region of chromosome 13q. Hum Mol Genet (1996) 1.09
EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) is on 7p11.2-q21.3. Clin Genet (1992) 1.05
Autosomal dominant ectodermal dysplasia. J Craniofac Genet Dev Biol (1987) 0.94
Autosomal dominant hypohidrotic ectodermal dysplasia in a large family. Am J Med Genet (1997) 0.94
The structure and evolution of the human beta-globin gene family. Cell (1980) 21.24
Complete nucleotide sequence of the human delta-globin gene. Cell (1980) 3.34
CHARGE association: an update and review for the primary pediatrician. Clin Pediatr (Phila) (1998) 3.33
A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism. Nature (1993) 3.24
Epidemic typhus rickettsiae isolated from flying squirrels. Nature (1975) 2.73
Base substitution in an intervening sequence of a beta+-thalassemic human globin gene. Proc Natl Acad Sci U S A (1981) 2.58
Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome. Nat Genet (1996) 2.53
Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles. Nat Genet (1996) 2.47
Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia. Nat Genet (2000) 2.39
Nucleotide sequence of a bean (Phaseolus vulgaris) U1 small nuclear RNA gene: implications for plant pre-mRNA splicing. Proc Natl Acad Sci U S A (1987) 2.36
Direct, sequence-specific binding of the human U1-70K ribonucleoprotein antigen protein to loop I of U1 small nuclear RNA. Mol Cell Biol (1989) 2.29
Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism. N Engl J Med (1994) 1.98
More on craniosynostosis. Pediatr Ann (1997) 1.97
Mutation of the KIT (mast/stem cell growth factor receptor) protooncogene in human piebaldism. Proc Natl Acad Sci U S A (1991) 1.81
Organization and nucleotide sequences of the human tyrosinase gene and a truncated tyrosinase-related segment. Genomics (1991) 1.81
Loop I of U1 small nuclear RNA is the only essential RNA sequence for binding of specific U1 small nuclear ribonucleoprotein particle proteins. Mol Cell Biol (1988) 1.77
RNA splice site selection: evidence for a 5' leads to 3' scanning model. Science (1983) 1.76
Mutation of PVRL1 is associated with sporadic, non-syndromic cleft lip/palate in northern Venezuela. Nat Genet (2001) 1.67
Duplication/deletion polymorphism 5' - to the human beta globin gene. Nucleic Acids Res (1981) 1.65
RFLP for MboI in the human tyrosinase (TYR) gene detected by PCR. Nucleic Acids Res (1990) 1.65
Organization and sequence of the human P gene and identification of a new family of transport proteins. Genomics (1995) 1.60
Target cell lysis by CTL granule exocytosis is independent of ICE/Ced-3 family proteases. Immunity (1997) 1.55
Site-directed mutagenesis using a double-stranded DNA fragment as a PCR primer. Nucleic Acids Res (1990) 1.54
Loss of expression of receptor tyrosine kinase family genes PTK7 and SEK in metastatic melanoma. Int J Cancer (1997) 1.53
Effect of epidural analgesia for labor on the cesarean delivery rate. Obstet Gynecol (1994) 1.45
A survey of protein tyrosine kinase mRNAs expressed in normal human melanocytes. Oncogene (1993) 1.43
Stent and artery geometry determine intimal thickening independent of arterial injury. Circulation (2000) 1.41
Bicycle-riding circumstances and injuries in school-age children. Arch Pediatr Adolesc Med (1997) 1.39
Duplication followed by deletion accounts for the structure of an Indian deletion beta (0)-thalassemia gene. Nucleic Acids Res (1982) 1.31
The molecular basis of oculocutaneous albinism type 1 (OCA1): sorting failure and degradation of mutant tyrosinases results in a lack of pigmentation. Biochem J (2001) 1.30
Complementation of hypopigmentation in p-mutant (pink-eyed dilution) mouse melanocytes by normal human P cDNA, and defective complementation by OCA2 mutant sequences. J Invest Dermatol (1997) 1.29
Splicing of plant pre-mRNAs in animal systems and vice versa. Gene (1987) 1.29
Linkage disequilibrium mapping of the gene for Hermansky-Pudlak syndrome to chromosome 10q23.1-q23.3. Hum Mol Genet (1995) 1.26
mRNA precursor splicing in vivo: sequence requirements determined by deletion analysis of an intervening sequence. Proc Natl Acad Sci U S A (1985) 1.25
Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA). Hum Mol Genet (1997) 1.24
The anatomy of dopamine in monkey and human prefrontal cortex. J Neural Transm Suppl (1992) 1.23
Familial occurrence of schwannomas and malignant rhabdoid tumour associated with a duplication in SMARCB1. J Med Genet (2009) 1.21
The thalassemias: molecular mechanisms of human genetic disease. Am J Hum Genet (1983) 1.21
Mouse pale ear (ep) is homologous to human Hermansky-Pudlak syndrome and contains a rare 'AT-AC' intron. Hum Mol Genet (1997) 1.21
A polymorphism of the human tyrosinase gene is associated with temperature-sensitive enzymatic activity. Gene Expr (1991) 1.21
Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity. Am J Hum Genet (1998) 1.20
Nucleotide sequences of two soybean U1 snRNA genes. Nucleic Acids Res (1988) 1.20
A tyrosinase gene missense mutation in temperature-sensitive type I oculocutaneous albinism. A human homologue to the Siamese cat and the Himalayan mouse. J Clin Invest (1991) 1.18
Mutational mapping of the catalytic activities of human tyrosinase. J Biol Chem (1992) 1.17
Simian virus 40 as a eukaryotic cloning vehicle. Annu Rev Genet (1981) 1.15
The gene mutated in cocoa mice, carrying a defect of organelle biogenesis, is a homologue of the human Hermansky-Pudlak syndrome-3 gene. Genomics (2001) 1.15
Phenotypic variation in the del(12p) syndrome. Am J Med Genet (1985) 1.14
Two cloned beta thalassemia genes are associated with amber mutations at codon 39. Nucleic Acids Res (1981) 1.14
A frequent tyrosinase gene mutation in classic, tyrosinase-negative (type IA) oculocutaneous albinism. Proc Natl Acad Sci U S A (1990) 1.14
In vitro splicing pathways of pre-mRNAs containing multiple intervening sequences? Mol Cell Biol (1987) 1.14
Alternative splicing of SV40 early pre-mRNA in vitro. Nucleic Acids Res (1986) 1.13
Experimental infection of ectoparasitic arthropods with Rickettsia prowazekii (GvF-16 strain) and transmission to flying squirrels. Am J Trop Med Hyg (1981) 1.12
The two intervening sequences of human beta- and gamma-globin pre-mRNAs are excised in a preferred temporal order in vitro. EMBO J (1985) 1.09
Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism. Nat Genet (1995) 1.08
The Hermansky-Pudlak syndrome (HPS) protein is part of a high molecular weight complex involved in biogenesis of early melanosomes. Hum Mol Genet (2000) 1.08
Diverse mutations of the P gene among African-Americans with type II (tyrosinase-positive) oculocutaneous albinism (OCA2). Hum Mol Genet (1994) 1.08
T cell receptor-stimulated generation of hydrogen peroxide inhibits MEK-ERK activation and lck serine phosphorylation. Free Radic Biol Med (2003) 1.07
Natural killing and antibody-dependent cellular cytotoxicity are mediated by different mechanisms and by different cells. J Immunol (1978) 1.07
New developments in the measurement of the hemagglutinin content of influenza virus vaccines by single-radial-immunodiffusion. J Biol Stand (1980) 1.06
Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions. Am J Med Genet (1992) 1.06
Antibody responses to influenza B viruses in immunologically unprimed children. Pediatrics (1991) 1.04
Organization and nucleotide sequence of the human KIT (mast/stem cell growth factor receptor) proto-oncogene. Oncogene (1992) 1.04
Cystic neuroblastoma of infancy. J Pediatr Surg (1995) 1.02
Fluorescence in situ hybridization mapping of 25 markers on distal human chromosome 2q surrounding the human Waardenburg syndrome, type I (WS1) locus (PAX3 gene). Genomics (1993) 1.02
Organization and nucleotide sequence of the human Hermansky-Pudlak syndrome (HPS) gene. J Invest Dermatol (1997) 1.01
Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel. Am J Hum Genet (1994) 1.01
Do CTL kill target cells by inducing apoptosis? Semin Immunol (1997) 1.01
Klippel-Feil anomaly with Sprengel anomaly, omovertebral bone, thumb abnormalities, and flexion-crease changes: novel association or syndrome? Am J Med Genet (2001) 1.00
Temperature-sensitive tyrosinase associated with peripheral pigmentation in oculocutaneous albinism. J Clin Invest (1991) 1.00
Homozygosity mapping of the gene for Chediak-Higashi syndrome to chromosome 1q42-q44 in a segment of conserved synteny that includes the mouse beige locus (bg). Am J Hum Genet (1996) 0.97
Tyrosinase gene mutations associated with type IB ("yellow") oculocutaneous albinism. Am J Hum Genet (1991) 0.96
Mutations of the tyrosinase gene in Indo-Pakistani patients with type I (tyrosinase-deficient) oculocutaneous albinism (OCA). Am J Hum Genet (1993) 0.95
Epizootiology of epidemic typhus (Rickettsia prowazekii) in flying squirrels. Am J Trop Med Hyg (1978) 0.95
Neonatal death in cousins with trisomy 10q and monosomy 4p due to a familial translocation. Clin Genet (1982) 0.94
Autosomal dominant hypohidrotic ectodermal dysplasia in a large family. Am J Med Genet (1997) 0.94
Mice deficient in MIM expression are predisposed to lymphomagenesis. Oncogene (2011) 0.94
The human RD protein is closely related to nuclear RNA-binding proteins and has been highly conserved. Gene (1990) 0.94
Mutations in the Chediak-Higashi syndrome gene (CHS1) indicate requirement for the complete 3801 amino acid CHS protein. Hum Mol Genet (1997) 0.93
Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformations. Hum Genet (2001) 0.93
A nonsense mutation in the tyrosinase gene of Afghan patients with tyrosinase negative (type IA) oculocutaneous albinism. J Med Genet (1991) 0.92
Cloning specific complete polyadenylylated 3'-terminal cDNA segments. Gene (1985) 0.91
Genomic organization and sequence of D12S53E (Pmel 17), the human homologue of the mouse silver (si) locus. J Invest Dermatol (1996) 0.90
A single immunization with a dry powder anthrax vaccine protects rabbits against lethal aerosol challenge. Vaccine (2008) 0.89
An intranasal vaccine targeting both the Bacillus anthracis toxin and bacterium provides protection against aerosol spore challenge in rabbits. Vaccine (2006) 0.89
Cross-reactive antibodies induced by a monovalent influenza B virus vaccine. J Clin Microbiol (1991) 0.85
Aortic root dilation in apparent Lujan-Fryns syndrome. Am J Med Genet (1999) 0.85
The medical demands of the special athlete. Clin J Sport Med (1998) 0.85
Metal ligand-binding specificities of the tyrosinase-related proteins. Biochem Biophys Res Commun (1998) 0.85
Nucleotide sequence, evolution, and expression of the fetal globin gene of the spider monkey Ateles geoffroyi. Proc Natl Acad Sci U S A (1985) 0.84
Type I oculocutaneous albinism associated with a full-length deletion of the tyrosinase gene. J Invest Dermatol (1996) 0.84
Linkage disequilibrium mapping of the gene for Margarita Island ectodermal dysplasia (ED4) to 11q23. Am J Hum Genet (1998) 0.83
PTK1, a novel protein kinase required for proliferation of human melanocytes. Oncogene (1994) 0.83
Beta-chemokines inhibit activation-induced death of lymphocytes from HIV-infected individuals. Eur J Immunol (2000) 0.82
The mental health status of young Hispanic women residing along the border: a twin cities comparison. Women Health (1999) 0.81
Covalent crosslinking of the heme prosthetic group to myoglobin by H2O2: toxicological implications. Free Radic Biol Med (1996) 0.81
Gene dosage effect: intraband mapping of human soluble glutamic oxaloacetic transaminase. Cytogenet Cell Genet (1979) 0.80
Prevalent and novel mutations of the tyrosinase gene in Korean patients with tyrosinase-deficient oculocutaneous albinism. Mol Cells (1997) 0.80
Comparative antigenicity and immunogenicity of 1976 influenza virus vaccines: results of mouse protection experiments. J Biol Stand (1978) 0.79
Patterns of contraceptive use and pregnancy among young Hispanic women on the Texas-Mexico border. J Adolesc Health (1993) 0.78