PubRank

C J Witkop

Author PubWeight™ 80.50‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Hereditary defects of dentin. Dent Clin North Am 1975 1.77
2 Visual system anomalies in human ocular albinos. Science 1978 1.75
3 The Saethre-Chotzen syndrome. Birth Defects Orig Artic Ser 1975 1.72
4 Asymmetric visually evoked potentials in human albinos: evidence for visual system anomalies. Invest Ophthalmol 1974 1.66
5 Albinism. Surv Ophthalmol 1986 1.41
6 Manifestations of genetic diseases in the human pulp. Oral Surg Oral Med Oral Pathol 1971 1.40
7 Malformation syndromes. A selected miscellany. Birth Defects Orig Artic Ser 1975 1.35
8 Autosomal recessively inherited ocular albinism. A new form of ocular albinism affecting females as severely as males. Arch Ophthalmol 1978 1.33
9 Hermansky-Pudlak syndrome. Ophthalmic findings. Ophthalmology 1988 1.26
10 Taurodontism, an isolated trait associated with syndromes and X-chromosomal aneuploidy. Am J Hum Genet 1980 1.25
11 Medical and dental findings in the Brandywine isolate. Ala J Med Sci 1966 1.24
12 Albinism. Adv Hum Genet 1971 1.23
13 Autosomal recessive oculocutaneous albinism in man. Evidence for genetic heterogeneity. Am J Hum Genet 1970 1.23
14 Basal cell nevus syndrome. Combined clinical staff conference at the National Institutes of Health. Ann Intern Med 1966 1.20
15 Ophthalmologic, biochemical, platelet, and ultrastructural defects in the various types of oculocutaneous albinism. J Invest Dermatol 1973 1.19
16 Abnormal visual pathways in the brain of a human albino. Brain Res 1975 1.14
17 Studies of platelets in a variant of the Hermansky-Pudlak syndrome. Am J Pathol 1971 1.13
18 Elevated urinary dolichol excretion in the Hermansky-Pudlak syndrome. Indicator of lysosomal dysfunction. Am J Med 1987 1.12
19 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
20 Partial expression of sex-linked recessive amelogenesis imperfecta in females compatible with the Lyon hypothesis. Oral Surg Oral Med Oral Pathol 1967 1.08
21 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
22 Inherited defects in tooth structure. Birth Defects Orig Artic Ser 1971 1.07
23 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
24 Syndrome of amelogenesis imperfecta, nephrocalcinosis, impaired renal concentration, and possible abnormality of calcium metabolism. Am J Med Genet 1985 1.05
25 Pathogenesis of pulmonary fibrosis: platelet-derived growth factor precedes structural alterations in the Hermansky-Pudlak syndrome. J Lab Clin Med 1994 1.04
26 A frequent tyrosinase gene mutation associated with type I-A (tyrosinase-negative) oculocutaneous albinism in Puerto Rico. Am J Hum Genet 1993 1.01
27 A single base insertion in the putative transmembrane domain of the tyrosinase gene as a cause for tyrosinase-negative oculocutaneous albinism. Proc Natl Acad Sci U S A 1991 1.01
28 Hairbulb tyrosinase activity in oculocutaneous albinism. Nature 1976 1.01
29 Heterogeneity in gingival fibromatosis. Birth Defects Orig Artic Ser 1971 1.01
30 Detection of heterozygotes for tyrosinase-negative oculocutaneous albinism by hairbulb tyrosinase assay. Am J Hum Genet 1977 1.00
31 Effects of normal and aspirin platelets on defective secondary aggregation in the Hermansky-Pudlak syndrome. A test for storage pool deficient platelets. Am J Pathol 1972 1.00
32 Albinism in England. Birth Defects Orig Artic Ser 1982 1.00
33 Hermansky-Pudlak syndrome in a Swiss population. Dermatology 1993 0.99
34 Amish albinism: a distinctive autosomal recessive phenotype. Am J Hum Genet 1970 0.98
35 Auditory brainstem anomalies in human albinos. Science 1980 0.98
36 Autosomal recessive pigmented hypomaturation amelogenesis imperfecta. Report of a kindred. Oral Surg Oral Med Oral Pathol 1973 0.97
37 Prevalence o f malocclusion in Chippewa Indian children. J Dent Res 1968 0.96
38 Psychosocial factors in low-incidence genetic disease: the case of osteogenesis imperfecta. Soc Work Health Care 1976 0.95
39 Combined chemical and electron microscopic studies of pheomelanosomes in human red hair. J Invest Dermatol 1983 0.93
40 Autosomal dominant hypodontia with nail dysgenesis. Report of twenty-nine cases in six families. Oral Surg Oral Med Oral Pathol 1975 0.92
41 Inherited disorders of pigmentation. Clin Dermatol 1986 0.92
42 Tyrosinase subcellular distribution and kinetic parameters in wild type and C-locus mutant C57BL/6J mice. J Exp Zool 1981 0.92
43 Clinical, histologic, cytologic, and ultrastructural characteristics of the oral lesions from hereditary mucoepithelial dysplasia. A disease of gap junction and desmosome formation. Oral Surg Oral Med Oral Pathol 1978 0.92
44 Hereditary mucoepithelial dysplasia: a disease apparently of desmosome and gap junction formation. Am J Hum Genet 1979 0.91
45 Classification of albinism in man. Birth Defects Orig Artic Ser 1971 0.91
46 Albinism in Nigeria with delineation of new recessive oculocutaneous type. Clin Genet 1980 0.91
47 Clinical aspects of dental anomalies. Int Dent J 1976 0.89
48 An improved method for the extraction of endogenous platelet serotonin. J Lab Clin Med 1976 0.89
49 The questionable relation between cochlear pigmentation and noise-induced hearing loss. Audiology 1985 0.87
50 Thioredoxin reductase activity in Hermansky-Pudlak syndrome: a method for identification of putative heterozygotes. J Invest Dermatol 1988 0.87
51 An electron optic analysis and explanation for the etiology of dentinal dysplasia. Oral Surg Oral Med Oral Pathol 1972 0.87
52 Electromyography of oral-facial musculature in craniocarpaltarsal dysplasia (Freeman-Sheldon syndrome). Clin Genet 1974 0.86
53 Pulpal dysplasia. Oral Surg Oral Med Oral Pathol 1970 0.86
54 Characterization of human hairbulb tyrosinase: properties of normal and albino enzyme. J Invest Dermatol 1978 0.86
55 Auditory system abnormalities in human albinos. Ear Hear 1982 0.86
56 The influence of prostaglandin G2 on platelet ultrastructure and platelet secretion. Am J Pathol 1977 0.85
57 Genetics and nutrition. Fed Proc 1967 0.84
58 Albinism: hematologic-storage disease, susceptibility to skin cancer, and optic neuronal defects shared in all types of oculocutaneous and ocular albinism. Ala J Med Sci 1979 0.83
59 Globodontia in the otodental syndrome. Oral Surg Oral Med Oral Pathol 1976 0.83
60 Ultrastructural study of hereditary benign intraepithelial dyskeratosis. Oral Surg Oral Med Oral Pathol 1977 0.82
61 Platelet aggregation independent of ADP release or prostaglandin synthesis in patients with hermansky-Pudlak syndrome. Prostaglandins Med 1981 0.81
62 Quantification of a novel dense granule protein (granulophysin) in platelets of patients with dense granule storage pool deficiency. Blood 1992 0.81
63 Heterogeneity in inherited dental traits, gingival fibromatosis and amelogenesis imperfecta. South Med J 1971 0.81
64 The Hermansky-Pudlak syndrome. Evidence for a lowered 5-hydroxytryptamine content in platelets of heterozygotes. Scand J Haematol 1977 0.81
65 The presence of Candida albicans in hereditary benign intraepithelial dyskeratosis. An ultrastructural observation. Oral Surg Oral Med Oral Pathol 1979 0.81
66 Electron optic microanalysis of two gene products in enamel of females heterozygous for X-linked hypomaturation amelogenesis imperfecta. Am J Hum Genet 1972 0.81
67 Pseudohypoparathyroidism. Oral Surg Oral Med Oral Pathol 1965 0.81
68 Gardner's syndrome and other osteognathodermal disorders with defects in parathyroid functions. J Oral Surg 1968 0.80
69 [Globodontia--a new familial tooth abnormality]. Dtsch Zahnarztl Z 1977 0.80
70 Clinical, genetic, and histologic features of the trichoonychodental (TOD) syndrome. Oral Surg Oral Med Oral Pathol 1978 0.79
71 Odontodysplasia. Report of three cases with vascular nevi overlying the adjacent skin of the face. Oral Surg Oral Med Oral Pathol 1978 0.79
72 Tyrosinase positive oculocutaneous albinism among the Zuni and the Brandywine triracial isolate: biochemical and clinical characteristics and fertility. Am J Phys Anthropol 1972 0.78
73 Hermansky-Pudlak syndrome (HPS): a proposed block in glutathione peroxidase. Oral Surg Oral Med Oral Pathol 1973 0.78
74 Molecular analyses of a tyrosinase-negative albino family. Am J Hum Genet 1993 0.78
75 Variable expression of albinism within a single kindred. Am J Ophthalmol 1991 0.76
76 Chromosome breaks and sister chromatid exchanges in albinos in Nigeria. Clin Genet 1979 0.76
77 Genetic and biochemical evidence for two forms of oculocutaneous albinism in man. Birth Defects Orig Artic Ser 1971 0.76
78 Proceedings: Differences in platelet storage pool deficiency (SPD) of Hermansky Pudlak syndrome (HPS) and non-albinos (NA). Thromb Diath Haemorrh 1975 0.76
79 Teeth with short, thin, dilacerated roots in patients with short stature: a dominantly inherited trait. Oral Surg Oral Med Oral Pathol 1982 0.76
80 Electron optic analysis of human dentin in hypophosphatemic vitamin D-resistant rickets (report of a kindred with consanguinity). J Oral Pathol 1973 0.76
81 Staining and hypoplasia of enamel caused by tetracycline: case report. Pediatr Dent 1987 0.75
82 The Hermansky-Pudlak syndrome: ultrastructure of bone marrow macrophages. Am J Pathol 1973 0.75
83 Concurrence of anorexia nervosa and yellow mutant albinism. J Med Genet 1980 0.75
84 Genetics. SSO Schweiz Monatsschr Zahnheilkd 1972 0.75
85 Genetics education and research. Minneap Dist Dent J 1970 0.75
86 History of genetics in dentistry. Birth Defects Orig Artic Ser 1980 0.75
87 Glycosaminoglycans of EDTA soluble and insoluble dentin in dentinogenesis imperfecta type I. Oral Surg Oral Med Oral Pathol 1976 0.75
88 The frequency of discolored teeth showing yellow fluorescence under ultra-violet light. J Oral Ther Pharmacol 1965 0.75
89 Expression of melanoma neutral proteinase and collagenase potential by endocytosis. Biochem Biophys Res Commun 1978 0.75
90 Influence of prostaglandins E1, E2, and arachidonate on melanosomes in melanocytes and keratinocytes of anagen hair bulbs in vitro. J Invest Dermatol 1975 0.75
91 Hereditary mucoepithelial dysplasia. Case report and review of the literature. J Am Acad Dermatol 1989 0.75
92 Disorders affecting cellular communications in oral tissues: gap junctions. Birth Defects Orig Artic Ser 1980 0.75
93 Hereditary mucoepithelial dysplasia, a disease of gap junction and desmosome formation. Birth Defects Orig Artic Ser 1982 0.75
94 Electron-optic analyses of hypomineralized amelogenesis imperfecta in man. Arch Oral Biol 1972 0.75
95 Prepubertal diagnosis of Klinefelter syndrome in a patient with taurodontic teeth. Pediatr Dent 1989 0.75
96 Glycosaminoglycans of predentin, peritubular dentin, and dentin: a biochemical and electron microscopic study. Oral Surg Oral Med Oral Pathol 1976 0.75
97 Fabry's disease (ceramide trihexosidase deficiency): diagnostic confirmation by analysis of dental pulp. Arch Oral Biol 1972 0.75
98 Dental caries in relation to PTC taste sensitivity, secretor status, and salivary thiocyanate level. Arch Oral Biol 1967 0.75
99 Diagnosis of late infantile neuronal "ceroid-lipofuscinosis" from histochemical and ultrastructural changes in dental pulp. Oral Surg Oral Med Oral Pathol 1984 0.75
100 Optic and otic neurologic abnormalities in oculocutaneous and ocular albinism. Birth Defects Orig Artic Ser 1982 0.75
101 Resistance to parathyroid extract in Gardner's syndrome. J Clin Endocrinol Metab 1968 0.75
102 Tyrosinase and Albinism. Am J Hum Genet 1959 0.75
103 Depigmentations of the general and oral tissues and their genetic foundations. Ala J Med Sci 1979 0.75
104 The Hermansky-Pudlak syndrome: inclusions in circulating leucocytes. Br J Haematol 1973 0.75
105 Alteration in the surface morphology of synchronized B-16 melanoma cell during the cell cycle. Acta Derm Venereol 1975 0.75