Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revisited: problems in classificationWITKOP, C. J. JR.Journal of oral pathology. 1988, Vol 17, Num 9-10, pp 547-553, issn 0300-9777Article

SCLEROSTEOSIS: NEUROGENETIC AND PATHOPHYSIOLOGIC ANALYSIS OF AN AMERICAN KINSHIPSTEIN SA; WITKOP C; HILL S et al.1983; NEUROLOGY; ISSN 0028-3878; USA; DA. 1983; VOL. 33; NO 3; PP. 267-277; BIBL. 61 REF.Article

Thioredoxin reductase activity in Hermansky-Pudlak syndrome: a method for identification of putative heterozygotesSCHALLREUTER, K. U; WITKOP, C. J.Journal of investigative dermatology. 1988, Vol 90, Num 3, pp 372-377, issn 0022-202XArticle

Reliability of absent platelet dense bodies as a diagnostic criterion for Hermansky-Pudlak syndromeWITKOP, C. J; KRUMWIEDE, M; SEDANO, H et al.American journal of hematology. 1987, Vol 26, Num 4, pp 305-311, issn 0361-8609Article

AlbinismKINNEAR, P. E; JAY, B; WITKOP, C. J. JR et al.Survey of ophthalmology. 1985, Vol 30, Num 2, pp 75-101, issn 0039-6257Article

Syndrome of amelogenesis imperfecta, nephrocalcinosis, impaired renal concentration, and possible abnormality of calcium metabolismLUBINSKY, M; ANGLE, C; MARSH, P. W et al.American journal of medical genetics. 1985, Vol 20, Num 2, pp 233-243, issn 0148-7299Article

Molecular analyses of a tyrosinase-negative albino familyPARK, K. C; CHINTAMANENI, C. D; HALABAN, R et al.American journal of human genetics. 1993, Vol 52, Num 2, pp 406-413, issn 0002-9297Article

Hereditary mucoepithelial dysplasiaSCHEMAN, A. J; RAY, D. J; WITKOP, C. J et al.Journal of the American Academy of Dermatology. 1989, Vol 21, Num 2, pp 351-357, issn 0190-9622, 7 p., 2Article

Hermansky-Pudlak syndrome: ophthalmic findingsSUMMERS, C. G; KNOBLOCH, W. H; WITKOP, C. J. JR et al.Ophthalmology (Rochester, MN). 1988, Vol 95, Num 4, pp 545-554, issn 0161-6420Article

Taurodontism: an anomaly of teeth reflecting disruptive developmental homeostasisWITKOP, C. J. JR; KEENAN, K. M; CERVENKA, J et al.American journal of medical genetics. Supplement. 1988, Num 4, pp 85-97, issn 1040-3787Article

A single base insertion in the putative transmembrane domain of the tyrosinase gene as a cause for tyrosinase-negative oculocutaneous albinismCHINTAMANENI, C. D; HALABAN, R; KOBAYASHI, Y et al.Proceedings of the National Academy of Sciences of the United States of America. 1991, Vol 88, Num 12, pp 5272-5276, issn 0027-8424, 5 p.Article

The questionable relation between cochlear pigmentation and noise-induced hearing lossYANZ, J. L; HERR, L. R; TOWNSEND, D. W et al.Audiology. 1985, Vol 24, Num 4, pp 260-268, issn 0020-6091Article

Combined chemical and electron microscopic studies of pheomelanosomes in human red hairJIMBOW, K; ISHIDA, O; ITO, S et al.Journal of investigative dermatology. 1983, Vol 81, Num 6, pp 506-511, issn 0022-202XArticle

Synergistic effect of storage pool deficient platelets and low plasma von Willebrand factor on the severity of the hemorrhagic diathesis in Hermansky-Pudlak syndromeWITKOP, C. J; BOWIE, E. J. W; KRUMWIEDE, M. D et al.American journal of hematology. 1993, Vol 44, Num 4, pp 256-259, issn 0361-8609Article

A frequent tyrosinase gene mutation associated with type I-A (tyrosinase-negative) oculocutaneous albinism in Puerto RicoOETTING, W. S; WITKOP, C. J; BROWN, S. A et al.American journal of human genetics. 1993, Vol 52, Num 1, pp 17-23, issn 0002-9297Article

Hermansky-Pudlak syndrome in a Swiss populationSCHALLREUTER, K. U; FRENK, E; WOLFE, L. S et al.Dermatology (Basel). 1993, Vol 187, Num 4, pp 248-256, issn 1018-8665Conference Paper

Elevated urinary dolichol excretion in the Hermansky-Pudlak syndrome: indicator of lysosomal dysfunctionWITKOP, C. J. JR; WOLFE, L. S; CAL, S. X et al.The American journal of medicine. 1987, Vol 82, pp 463-470, issn 0002-9343Article

Variable expression of albinism within a single kindredCASTRONUOVO, S; SIMON, J. W; KANDEL, G. L et al.American journal of ophthalmology. 1991, Vol 111, Num 4, pp 419-426, issn 0002-9394, 8 p.Article

Pathogenesis of pulmonary fibrosis : platelet-derived growth factor precedes structural alterations in the Hermansky-Pudlak syndromeHARMON, K. R; WITKOP, C. J; WHITE, J. G et al.The Journal of laboratory and clinical medicine. 1994, Vol 123, Num 4, pp 617-627, issn 0022-2143Article

Quantification of a novel dense granule protein (granulophysin) in platelets of patients with dense granule storage pool deficiencySHALEV, A; MICHAUD, G; GERRARD, J. M et al.Blood. 1992, Vol 80, Num 5, pp 1231-1237, issn 0006-4971Article