-
1
-
-
0028099849
-
Molecular basis of oculocutaneous albinism
-
1. Oetting WS, King RA (1994) Molecular basis of oculocutaneous albinism. J Invest Dermatol 103: 131S-136S
-
(1994)
J Invest Dermatol
, vol.103
-
-
Oetting, W.S.1
King, R.A.2
-
2
-
-
0017296762
-
Hairbulb tyrosinase activity in oculocutaneous albinism
-
2. King R, Witcop C (1976) Hairbulb tyrosinase activity in oculocutaneous albinism. Nature 263: 69-71
-
(1976)
Nature
, vol.263
, pp. 69-71
-
-
King, R.1
Witcop, C.2
-
3
-
-
0025808737
-
A tyrosinase gene missense mutation in temperature-sensitive type I oculocutaneous albinism. A human homologue to the Siamese cat and the Himalayan mouse
-
3. Giebel LB, Tripathi RK, King RA, Spritz RA (1991) 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 87: 1119-1122
-
(1991)
J Clin Invest
, vol.87
, pp. 1119-1122
-
-
Giebel, L.B.1
Tripathi, R.K.2
King, R.A.3
Spritz, R.A.4
-
4
-
-
0025729679
-
Tyrosinase gene mutations associated with type IB ("yellow") oculocutaneous albinism
-
4. Giebel LB, Tripathi RK, Strunk KM, Hanifin JM, Jackson CE, King RA, Spritz RA (1991) Tyrosinase gene mutations associated with type IB ("yellow") oculocutaneous albinism. Am J Hum Genet 48: 1159-1167
-
(1991)
Am J Hum Genet
, vol.48
, pp. 1159-1167
-
-
Giebel, L.B.1
Tripathi, R.K.2
Strunk, K.M.3
Hanifin, J.M.4
Jackson, C.E.5
King, R.A.6
Spritz, R.A.7
-
5
-
-
0025851039
-
Non-random distribution of missense mutations within the human tyrosinase gene in type I (tyrosinase-related) oculocutaneous albinism
-
5. King RA, Mentink MM, Oetting WS (1991) Non-random distribution of missense mutations within the human tyrosinase gene in type I (tyrosinase-related) oculocutaneous albinism. Mol Biol Med 8: 19-29
-
(1991)
Mol Biol Med
, vol.8
, pp. 19-29
-
-
King, R.A.1
Mentink, M.M.2
Oetting, W.S.3
-
6
-
-
0030297582
-
R278TER and P431L mutations of the tyrosinase gene exist in Japanese patients with tyrosinase-negative oculocutaneous albinism
-
6. Matsunaga J, Dakeishi M, Shimizu H, Tomita Y (1996) R278TER and P431L mutations of the tyrosinase gene exist in Japanese patients with tyrosinase-negative oculocutaneous albinism. J Dermatol Sci 13: 134-139
-
(1996)
J Dermatol Sci
, vol.13
, pp. 134-139
-
-
Matsunaga, J.1
Dakeishi, M.2
Shimizu, H.3
Tomita, Y.4
-
7
-
-
0024051807
-
Human tyrosinase gene, mapped to chromosome 11 (q14-q21), defines second region of homology with mouse chromosome 7
-
7. Barton DE, Kwon BS, Francke U (1988) Human tyrosinase gene, mapped to chromosome 11 (q14-q21), defines second region of homology with mouse chromosome 7. Genomics 3: 17-24
-
(1988)
Genomics
, vol.3
, pp. 17-24
-
-
Barton, D.E.1
Kwon, B.S.2
Francke, U.3
-
8
-
-
0026686945
-
The mouse pink-eyed dilution gene: Association with human Prader-Willi and Angelman syndromes
-
8. Gardner J, Nakatsu Y, Gondo Y, Lee S, Lyon M, King R, Brilliant M (1992) The mouse pink-eyed dilution gene: association with human Prader-Willi and Angelman syndromes. Science 257: 1121-1124
-
(1992)
Science
, vol.257
, pp. 1121-1124
-
-
Gardner, J.1
Nakatsu, Y.2
Gondo, Y.3
Lee, S.4
Lyon, M.5
King, R.6
Brilliant, M.7
-
9
-
-
0028232893
-
African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism
-
9. Durham Pierre D, Gardner JM, Nakatsu Y, King RA, Francke U, Ching A, Aquaron R, Marmol V del, Brilliant MH (1994) African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism. Nat Genet 7: 176-179
-
(1994)
Nat Genet
, vol.7
, pp. 176-179
-
-
Durham Pierre, D.1
Gardner, J.M.2
Nakatsu, Y.3
King, R.A.4
Francke, U.5
Ching, A.6
Aquaron, R.7
Del Marmol, V.8
Brilliant, M.H.9
-
10
-
-
0028067984
-
Diverse mutations of the P gene among African-Americans with type II (tyrosinase-positive) oculocutaneous albinism (OCA2)
-
10. Lee ST, Nicholls RD, Schnur RE, Guida LC, Lu Kuo J, Spinner NB, Zackai EH, Spritz RA (1994) Diverse mutations of the P gene among African-Americans with type II (tyrosinase-positive) oculocutaneous albinism (OCA2). Hum Mol Genet 3: 2047-2051
-
(1994)
Hum Mol Genet
, vol.3
, pp. 2047-2051
-
-
Lee, S.T.1
Nicholls, R.D.2
Schnur, R.E.3
Guida, L.C.4
Lu Kuo, J.5
Spinner, N.B.6
Zackai, E.H.7
Spritz, R.A.8
-
11
-
-
0026687861
-
The tyrosinase-positive oculocutaneous albinism locus maps to chromosome 15q11.2-q12
-
11. Ramsay M, Colman MA, Stevens G, Zwane E, Kromberg J, Farrall M, Jenkins T (1992) The tyrosinase-positive oculocutaneous albinism locus maps to chromosome 15q11.2-q12. Am J Hum Genet 51: 879-884
-
(1992)
Am J Hum Genet
, vol.51
, pp. 879-884
-
-
Ramsay, M.1
Colman, M.A.2
Stevens, G.3
Zwane, E.4
Kromberg, J.5
Farrall, M.6
Jenkins, T.7
-
12
-
-
0027509280
-
A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism
-
12. Rinchik EM, Bultman SJ, Horsthemke B, Lee ST, Strunk KM, Spritz RA, Avidano KM, Jong MT, Nicholls RD (1993) A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism. Nature 361: 72-76
-
(1993)
Nature
, vol.361
, pp. 72-76
-
-
Rinchik, E.M.1
Bultman, S.J.2
Horsthemke, B.3
Lee, S.T.4
Strunk, K.M.5
Spritz, R.A.6
Avidano, K.M.7
Jong, M.T.8
Nicholls, R.D.9
-
13
-
-
0027228259
-
Molecular genetics of oculocutaneous albinism
-
13. Spritz RA (1993) Molecular genetics of oculocutaneous albinism. Semin Dermatol 12: 167-172
-
(1993)
Semin Dermatol
, vol.12
, pp. 167-172
-
-
Spritz, R.A.1
-
14
-
-
0029886028
-
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"
-
14. Boissy RE, Zhao H, Oetting WS, Austin LM, Wildenberg SC, Boissy YL, Zhao Y, Sturm RA, Hearing VJ, King RA, Nordlund JJ (1996) 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 58: 1145-1156
-
(1996)
Am J Hum Genet
, vol.58
, pp. 1145-1156
-
-
Boissy, R.E.1
Zhao, H.2
Oetting, W.S.3
Austin, L.M.4
Wildenberg, S.C.5
Boissy, Y.L.6
Zhao, Y.7
Sturm, R.A.8
Hearing, V.J.9
King, R.A.10
Nordlund, J.J.11
-
15
-
-
4243274789
-
Brown oculocutaneous albinism is allelic to tyrosinase-positive oculocutaneous albinism in southern African Negroids
-
15. Manga P, Ramsay M, Kromberg J, Jenkins T (1995) Brown oculocutaneous albinism is allelic to tyrosinase-positive oculocutaneous albinism in southern African Negroids. Am J Hum Genet 55: A194
-
(1995)
Am J Hum Genet
, vol.55
-
-
Manga, P.1
Ramsay, M.2
Kromberg, J.3
Jenkins, T.4
-
16
-
-
0030828856
-
Rufous oculocutaneous albinism in southern African blacks is caused by mutations in the TYRP1 gene
-
16. Manga P, Kromberg JG, Box NF, Sturm RA, Jenkins T, Ramsay M (1997) Rufous oculocutaneous albinism in southern African blacks is caused by mutations in the TYRP1 gene. Am J Hum Genet 61: 1095-1101
-
(1997)
Am J Hum Genet
, vol.61
, pp. 1095-1101
-
-
Manga, P.1
Kromberg, J.G.2
Box, N.F.3
Sturm, R.A.4
Jenkins, T.5
Ramsay, M.6
-
17
-
-
0028022094
-
Molecular genetics of oculocutaneous albinism
-
17. Spritz RA (1994) Molecular genetics of oculocutaneous albinism. Hum Mol Genet 1469-1475
-
(1994)
Hum Mol Genet
, pp. 1469-1475
-
-
Spritz, R.A.1
-
18
-
-
0026437374
-
Do pigmented naevi in albinism provide evidence of tyrosinase positivity?
-
18. Akiyama M, Shimizu H, Sugiura M, Nishikawa T (1992) Do pigmented naevi in albinism provide evidence of tyrosinase positivity? Br J Dermatol 127: 649-653
-
(1992)
Br J Dermatol
, vol.127
, pp. 649-653
-
-
Akiyama, M.1
Shimizu, H.2
Sugiura, M.3
Nishikawa, T.4
-
19
-
-
0026808572
-
Prenatal diagnosis of tyrosinase-negative oculocutaneous albinism
-
19. Shimizu H, Ishiko A, Kikuchi A, Akiyama M, Suzumori K, Nishikawa T (1992) Prenatal diagnosis of tyrosinase-negative oculocutaneous albinism (letter). Lancet 340: 739-740
-
(1992)
Lancet
, vol.340
, pp. 739-740
-
-
Shimizu, H.1
Ishiko, A.2
Kikuchi, A.3
Akiyama, M.4
Suzumori, K.5
Nishikawa, T.6
-
20
-
-
0028451590
-
Prenatal diagnosis of tyrosinase-negative oculocutaneous albinism by an electron microscopic DOPA reaction test of fetal skin
-
20. Shimizu H, Ishiko A, Kikuchi A, Akiyama M, Suzumori K, Nishikawa T (1994) Prenatal diagnosis of tyrosinase-negative oculocutaneous albinism by an electron microscopic DOPA reaction test of fetal skin. Prenat Diagn 14: 442-450
-
(1994)
Prenat Diagn
, vol.14
, pp. 442-450
-
-
Shimizu, H.1
Ishiko, A.2
Kikuchi, A.3
Akiyama, M.4
Suzumori, K.5
Nishikawa, T.6
-
21
-
-
0025008433
-
Molecular basis of tyrosinase-negative oculocutaneous albinism. A single base mutation in the tyrosinase gene causing arginine to glutamine substitution at position 59
-
21. Takeda A, Tomita Y, Matsunaga J, Tagami H, Shibahara S (1990) Molecular basis of tyrosinase-negative oculocutaneous albinism. A single base mutation in the tyrosinase gene causing arginine to glutamine substitution at position 59. J Biol Chem 265: 17792-17797
-
(1990)
J Biol Chem
, vol.265
, pp. 17792-17797
-
-
Takeda, A.1
Tomita, Y.2
Matsunaga, J.3
Tagami, H.4
Shibahara, S.5
-
22
-
-
0032174680
-
Oculocutaneous albinism and analysis of tyrosinase gene in Japanese patients
-
22. Tomita Y, Miyamura Y (1998) Oculocutaneous albinism and analysis of tyrosinase gene in Japanese patients. Nagoya J Med Sci 61: 97-102
-
(1998)
Nagoya J Med Sci
, vol.61
, pp. 97-102
-
-
Tomita, Y.1
Miyamura, Y.2
-
23
-
-
0028246228
-
Prenatal diagnosis of oculocutaneous albinism by analysis of the fetal tyrosinase gene
-
23. Shimizu H, Niizeki H, Suzumori K, Aozaki R, Kawaguchi R, Hikiji K, Nishikawa T (1994) Prenatal diagnosis of oculocutaneous albinism by analysis of the fetal tyrosinase gene. J Invest Dermatol 103: 104-106
-
(1994)
J Invest Dermatol
, vol.103
, pp. 104-106
-
-
Shimizu, H.1
Niizeki, H.2
Suzumori, K.3
Aozaki, R.4
Kawaguchi, R.5
Hikiji, K.6
Nishikawa, T.7
-
24
-
-
0027433113
-
Conformation-sensitive gel electrophoresis for rapid detection of single base differences in double-stranded PCR products and DNA fragments
-
24. Ganguly A, Rock MJ, Prockop DJ (1993) Conformation-sensitive gel electrophoresis for rapid detection of single base differences in double-stranded PCR products and DNA fragments. Proc Natl Acad Sci U S A 90: 10325-10329
-
(1993)
Proc Natl Acad Sci U S A
, vol.90
, pp. 10325-10329
-
-
Ganguly, A.1
Rock, M.J.2
Prockop, D.J.3
-
25
-
-
0024433692
-
Human oculocutaneous albinism caused by single base insertion in the tyrosinase gene
-
25. Tomita Y, Takeda A, Okinaga S, Tagami H, Shibahara S (1989) Human oculocutaneous albinism caused by single base insertion in the tyrosinase gene. Biochem Biophys Res Commun 164: 990-996
-
(1989)
Biochem Biophys Res Commun
, vol.164
, pp. 990-996
-
-
Tomita, Y.1
Takeda, A.2
Okinaga, S.3
Tagami, H.4
Shibahara, S.5
-
26
-
-
0027436609
-
Mutations of the tyrosinase gene in Indo-Pakistani patients with type I (tyrosinase-deficient) oculocutaneous albinism (OCA)
-
26. Tripathi RK, Bundey S, Musarella MA, Droetto S, Strunk KM, Holmes SA, Spritz RA (1993) Mutations of the tyrosinase gene in Indo-Pakistani patients with type I (tyrosinase-deficient) oculocutaneous albinism (OCA). Am J Hum Genet 53: 1173-1179
-
(1993)
Am J Hum Genet
, vol.53
, pp. 1173-1179
-
-
Tripathi, R.K.1
Bundey, S.2
Musarella, M.A.3
Droetto, S.4
Strunk, K.M.5
Holmes, S.A.6
Spritz, R.A.7
-
27
-
-
0028331890
-
Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel
-
27. Gershoni-Baruch R, Rosenmann A, Droetto S, Holmes S, Tripathi RK, Spritz RA (1994) Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel. Am J Hum Genet 54: 586-594
-
(1994)
Am J Hum Genet
, vol.54
, pp. 586-594
-
-
Gershoni-Baruch, R.1
Rosenmann, A.2
Droetto, S.3
Holmes, S.4
Tripathi, R.K.5
Spritz, R.A.6
-
28
-
-
0027478888
-
A frequent tyrosinase gene mutation associated with type I-A (tyrosinase-negative) oculocutaneous albinism in Puerto Rico
-
28. Oetting WS, Witkop CJ Jr, Brown SA, Colomer R, Fryer JP, Bloom KE, King RA (1993) A frequent tyrosinase gene mutation associated with type I-A (tyrosinase-negative) oculocutaneous albinism in Puerto Rico. Am J Hum Genet 52: 17-23
-
(1993)
Am J Hum Genet
, vol.52
, pp. 17-23
-
-
Oetting, W.S.1
Witkop C.J., Jr.2
Brown, S.A.3
Colomer, R.4
Fryer, J.P.5
Bloom, K.E.6
King, R.A.7
-
29
-
-
0030093659
-
Prenatal diagnosis of inherited skin diseases
-
29. Shimizu H (1996) Prenatal diagnosis of inherited skin diseases. Keio J Med 45: 28-36
-
(1996)
Keio J Med
, vol.45
, pp. 28-36
-
-
Shimizu, H.1
|