Published in Clin Genet on April 01, 1980
Mutation in and lack of expression of tyrosinase-related protein-1 (TRP-1) in melanocytes from an individual with brown oculocutaneous albinism: a new subtype of albinism classified as "OCA3". Am J Hum Genet (1996) 1.59
Albinism in Africa as a public health issue. BMC Public Health (2006) 1.24
Rufous oculocutaneous albinism in southern African Blacks is caused by mutations in the TYRP1 gene. Am J Hum Genet (1997) 1.23
Vision in albinism. Trans Am Ophthalmol Soc (1996) 1.01
Was skin cancer a selective force for black pigmentation in early hominin evolution? Proc Biol Sci (2014) 0.90
In Southern Africa, brown oculocutaneous albinism (BOCA) maps to the OCA2 locus on chromosome 15q: P-gene mutations identified. Am J Hum Genet (2001) 0.81
OCA2 splice site variant in German Spitz dogs with oculocutaneous albinism. PLoS One (2017) 0.75
Children's Yale-Brown Obsessive Compulsive Scale: reliability and validity. J Am Acad Child Adolesc Psychiatry (1997) 7.10
Evaluating the quality of clinical practice guidelines. J Manipulative Physiol Ther (2001) 3.57
Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4. Am J Hum Genet (2001) 2.43
Linkage analysis with multiplexed short tandem repeat polymorphisms using infrared fluorescence and M13 tailed primers. Genomics (1995) 2.36
The syndrome of pits of the lower lip and cleft lip and/or palate. Genetic considerations. Am J Hum Genet (1967) 2.32
A genome-wide search for susceptibility genes in human systemic lupus erythematosus sib-pair families. Proc Natl Acad Sci U S A (1998) 2.31
The mouse pink-eyed dilution gene: association with human Prader-Willi and Angelman syndromes. Science (1992) 2.23
Genetic analysis of mammographic breast density in adult women: evidence of a gene effect. J Natl Cancer Inst (1997) 2.21
A human chondrodysplasia due to a mutation in a TGF-beta superfamily member. Nat Genet (1996) 2.11
Successful bone-marrow transplantation for infantile malignant osteopetrosis. N Engl J Med (1980) 1.95
Variation in the interleukin 4-receptor alpha gene confers susceptibility to asthma and atopy in ethnically diverse populations. Am J Hum Genet (2000) 1.94
Evidence that a locus for familial high myopia maps to chromosome 18p. Am J Hum Genet (1998) 1.93
A second locus for familial high myopia maps to chromosome 12q. Am J Hum Genet (1998) 1.90
Detection of mutations in the tyrosinase gene in a patient with type IA oculocutaneous albinism. N Engl J Med (1990) 1.88
Classification and birth prevalence of orofacial clefts. Am J Med Genet (1998) 1.83
Albinism in Nigeria. A clinical and social study. Br J Dermatol (1975) 1.81
Albinism and Hermansky-Pudlak syndrome in Puerto Rico. Bol Asoc Med P R (1990) 1.79
Are child-, adolescent-, and adult-onset depression one and the same disorder? Biol Psychiatry (2001) 1.79
Hereditary defects of dentin. Dent Clin North Am (1975) 1.77
Robin's syndrome. A probably X-linked recessive subvariety exhibiting persistence of left superior vena cava and atrial septal defect. Am J Dis Child (1970) 1.76
Visual system anomalies in human ocular albinos. Science (1978) 1.75
The Saethre-Chotzen syndrome. Birth Defects Orig Artic Ser (1975) 1.72
Genome screening in human systemic lupus erythematosus: results from a second Minnesota cohort and combined analyses of 187 sib-pair families. Am J Hum Genet (2000) 1.72
Ritual, habit, and perfectionism: the prevalence and development of compulsive-like behavior in normal young children. Child Dev (1997) 1.71
Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism. Hum Mutat (1999) 1.67
Asymmetric visually evoked potentials in human albinos: evidence for visual system anomalies. Invest Ophthalmol (1974) 1.66
Dopachrome oxidoreductase: a new enzyme in the pigment pathway. J Invest Dermatol (1984) 1.65
Popliteal pterygium syndrome . A syndrome comprising cleft lip-palate, popliteal and intercrural pterygia, digital and genital anomalies. Pediatrics (1968) 1.62
Mutation in and lack of expression of tyrosinase-related protein-1 (TRP-1) in melanocytes from an individual with brown oculocutaneous albinism: a new subtype of albinism classified as "OCA3". Am J Hum Genet (1996) 1.59
Coliphages as ecological indicators of enteroviruses in various water systems. Bull World Health Organ (1981) 1.55
Risperidone treatment of children and adolescents with chronic tic disorders: a preliminary report. J Am Acad Child Adolesc Psychiatry (1995) 1.55
Electroretinograms in autism: a pilot study of b-wave amplitudes. Am J Psychiatry (1988) 1.54
The Dimensional Yale-Brown Obsessive-Compulsive Scale (DY-BOCS): an instrument for assessing obsessive-compulsive symptom dimensions. Mol Psychiatry (2006) 1.53
Exacerbation of Gilles de la Tourette's syndrome associated with thermal stress: a family study. Neurology (1991) 1.52
Genomewide screen and identification of gene-gene interactions for asthma-susceptibility loci in three U.S. populations: collaborative study on the genetics of asthma. Am J Hum Genet (2001) 1.50
African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism. Nat Genet (1994) 1.50
Rapid screening of invertebrate predators for multiple prey DNA targets. Mol Ecol (2005) 1.45
Patterns of DNA replication of human chromosomes. II. Replication map and replication model. Am J Hum Genet (1982) 1.45
Genetic linkage analysis of hereditary arthro-ophthalmopathy (Stickler syndrome) and the type II procollagen gene. Am J Hum Genet (1989) 1.44
The mouse pale ear (ep) mutation is the homologue of human Hermansky-Pudlak syndrome. Proc Natl Acad Sci U S A (1997) 1.43
Genome-wide association study of Tourette's syndrome. Mol Psychiatry (2012) 1.42
Multiple mucosal neuromas, pheochromocytoma and medullary carcinoma of the thyroid--a syndrome. Cancer (1968) 1.41
Albinism. Surv Ophthalmol (1986) 1.41
Manifestations of genetic diseases in the human pulp. Oral Surg Oral Med Oral Pathol (1971) 1.40
Validation study of self-reported measures of fat distribution. Int J Obes Relat Metab Disord (1996) 1.39
Malformation syndromes. A selected miscellany. Birth Defects Orig Artic Ser (1975) 1.35
Child rearing and children's prosocial initiations toward victims of distress. Child Dev (1979) 1.35
A gene causing Hermansky-Pudlak syndrome in a Puerto Rican population maps to chromosome 10q2. Am J Hum Genet (1995) 1.35
Autosomal recessively inherited ocular albinism. A new form of ocular albinism affecting females as severely as males. Arch Ophthalmol (1978) 1.33
Genetic linkage and transmission disequilibrium of marker haplotypes at chromosome 1q41 in human systemic lupus erythematosus. Arthritis Res (2001) 1.28
Death without warning? A clinical postmortem study of suicide in 43 Israeli adolescent males. Arch Gen Psychiatry (1993) 1.28
Mitomycin C test for diagnostic differentiation of idiopathic aplastic anemia and Fanconi anemia. Pediatrics (1981) 1.27
Hermansky-Pudlak syndrome. Ophthalmic findings. Ophthalmology (1988) 1.26
Taurodontism, an isolated trait associated with syndromes and X-chromosomal aneuploidy. Am J Hum Genet (1980) 1.25
Hypopigmentation in the Prader-Willi syndrome. Am J Hum Genet (1987) 1.24
Medical and dental findings in the Brandywine isolate. Ala J Med Sci (1966) 1.24
Albinism. Adv Hum Genet (1971) 1.23
Autosomal recessive oculocutaneous albinism in man. Evidence for genetic heterogeneity. Am J Hum Genet (1970) 1.23
Oculocutaneous albinoidism as a manifestation of reduced neural crest derivatives in the Prader-Willi syndrome. Am J Ophthalmol (1982) 1.22
Basal cell nevus syndrome. Combined clinical staff conference at the National Institutes of Health. Ann Intern Med (1966) 1.20
Early parental preoccupations and behaviors and their possible relationship to the symptoms of obsessive-compulsive disorder. Acta Psychiatr Scand Suppl (1999) 1.20
Abnormalities of the central visual pathways in Prader-Willi syndrome associated with hypopigmentation. N Engl J Med (1986) 1.19
Ophthalmologic, biochemical, platelet, and ultrastructural defects in the various types of oculocutaneous albinism. J Invest Dermatol (1973) 1.19
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
Down syndrome due to partial trisomy 21q. Clin Genet (1977) 1.18
Children and adolescents with neurofibromatosis 1: a behavioral phenotype. J Dev Behav Pediatr (1996) 1.16
A frequent tyrosinase gene mutation in classic, tyrosinase-negative (type IA) oculocutaneous albinism. Proc Natl Acad Sci U S A (1990) 1.14
Abnormal visual pathways in the brain of a human albino. Brain Res (1975) 1.14
Studies of platelets in a variant of the Hermansky-Pudlak syndrome. Am J Pathol (1971) 1.13
Elevated urinary dolichol excretion in the Hermansky-Pudlak syndrome. Indicator of lysosomal dysfunction. Am J Med (1987) 1.12
Circulating insulin-like growth factor I levels in newborn premature and full-term infants followed longitudinally. Early Hum Dev (1986) 1.11
A new form of Ehlers-Danlos syndrome. Fibronectin corrects defective platelet function. JAMA (1980) 1.10
Cell line derived from a metastasis of a human testicular germ cell tumor. Cancer Res (1980) 1.10
Agenesis of succedaneous teeth: an expression of the homozygous state of the gene for the pegged or missing maxillary lateral incisor trait. Am J Med Genet (1987) 1.09
Partial expression of sex-linked recessive amelogenesis imperfecta in females compatible with the Lyon hypothesis. Oral Surg Oral Med Oral Pathol (1967) 1.08
Hypoplastic enamel, onycholysis, and hypohidrosis inherited as an autosomal dominant trait. A review of ectodermal dysplasia syndromes. Oral Surg Oral Med Oral Pathol (1975) 1.08
Seckel's dwarfism: analysis of chromosome breakage and sister chromatid exchanges. Am J Dis Child (1979) 1.07
Inherited defects in tooth structure. Birth Defects Orig Artic Ser (1971) 1.07
Facial clefting and its syndromes. Birth Defects Orig Artic Ser (1971) 1.06
Molecular analysis of an extended family with type IA (tyrosinase-negative) oculocutaneous albinism. J Invest Dermatol (1991) 1.06
Syndrome of amelogenesis imperfecta, nephrocalcinosis, impaired renal concentration, and possible abnormality of calcium metabolism. Am J Med Genet (1985) 1.05
Hairbulb tyrosinase activity in oculocutaneous albinism: suggestions for pathway control and block location. Am J Med Genet (1985) 1.05
Labile aggregation stimulating substance (LASS): the factor from storage pool deficient platelets correcting defective aggregation and release of aspirin treated normal platelets. Br J Haematol (1975) 1.05
Visual anomalies associated with albinism. Ophthalmic Paediatr Genet (1990) 1.05
Pathogenesis of pulmonary fibrosis: platelet-derived growth factor precedes structural alterations in the Hermansky-Pudlak syndrome. J Lab Clin Med (1994) 1.04
Antibodies against neural, nuclear, cytoskeletal, and streptococcal epitopes in children and adults with Tourette's syndrome, Sydenham's chorea, and autoimmune disorders. Biol Psychiatry (2001) 1.04
Function of dopachrome oxidoreductase and metal ions in dopachrome conversion in the eumelanin pathway. Biochemistry (1988) 1.03
Human genotoxicity: pesticide applicators and phosphine. Science (1989) 1.03
On the analysis of the pathophysiology of Chediak-Higashi syndrome. Defects expressed by cultured melanocytes. Lab Invest (1994) 1.02
Risk behavior in a community sample of children and adolescents. J Am Acad Child Adolesc Psychiatry (2000) 1.02
A frequent tyrosinase gene mutation associated with type I-A (tyrosinase-negative) oculocutaneous albinism in Puerto Rico. Am J Hum Genet (1993) 1.01