-
1
-
-
0002580692
-
Albinism
-
Scriver CR, Beaudet AL, Sly WS, Valle D, eds. New York: McGraw-Hill
-
King RA, Hearing VJ, Creel DJ, Oetting WS. Albinism. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease, 7th ed. New York: McGraw-Hill, 1995;4353-4392.
-
(1995)
The Metabolic and Molecular Bases of Inherited Disease, 7th Ed.
, pp. 4353-4392
-
-
King, R.A.1
Hearing, V.J.2
Creel, D.J.3
Oetting, W.S.4
-
2
-
-
0028610286
-
Genetic disorders of pigmentation
-
Spritz AR, Hearing VJ. Genetic disorders of pigmentation. Adv Hum Genet 1994;22:1-45.
-
(1994)
Adv Hum Genet
, vol.22
, pp. 1-45
-
-
Spritz, A.R.1
Hearing, V.J.2
-
3
-
-
0028099849
-
Molecular basis of oculocutaneous albinism
-
Oetting WS, King RA. Molecular basis of oculocutaneous albinism. J Invest Dermatol 1994;103:131S-136S.
-
(1994)
J Invest Dermatol
, vol.103
-
-
Oetting, W.S.1
King, R.A.2
-
5
-
-
0027228259
-
Molecular genetics of oculocutaneous albinism
-
Spritz RA. Molecular genetics of oculocutaneous albinism. Semin Dermatol 1993;12:167-172.
-
(1993)
Semin Dermatol
, vol.12
, pp. 167-172
-
-
Spritz, R.A.1
-
6
-
-
0028022094
-
Molecular genetics of oculocutaneous albinism
-
Spritz RA. Molecular genetics of oculocutaneous albinism. Hum Mol Genet 1994;3:1469-1475.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1469-1475
-
-
Spritz, R.A.1
-
7
-
-
0025729679
-
Tyrosinase gene mutations associated with type IB ("yellow") oculocutaneous albinism
-
Giebel LB, Tripathi RK, Strunk KM, et al. Tyrosinase gene mutations associated with type IB ("yellow") oculocutaneous albinism. Am J Hum Genet 1991;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
-
8
-
-
0028331890
-
Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel
-
Gershoni-Baruch R, Rosenmann A, Droetto S, Holmes S, Tripathi RK, Spritz RA. Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel. Am J Hum Genet 1994;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
-
9
-
-
16944363238
-
Novel mutations of the tyrosinase (TYR) gene in type I oculocutaneous albinism
-
Spritz RA, Oh J, Fukai K, et al. Novel mutations of the tyrosinase (TYR) gene in type I oculocutaneous albinism. Hum Mutat 1997;10:171-174.
-
(1997)
Hum Mutat
, vol.10
, pp. 171-174
-
-
Spritz, R.A.1
Oh, J.2
Fukai, K.3
-
10
-
-
0028014593
-
Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism
-
Lee S-T, Nicholls RD, Bundey S, Laxova R, Musarella M, Spritz RA. Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism. N Engl J Med 1994;330:529-534.
-
(1994)
N Engl J Med
, vol.330
, pp. 529-534
-
-
Lee, S.-T.1
Nicholls, R.D.2
Bundey, S.3
Laxova, R.4
Musarella, M.5
Spritz, R.A.6
-
11
-
-
0030790959
-
Novel mutations of the P gene in type II oculocotaneous albinism (OCA II)
-
Spritz RA, Lee S-T, Fukai K, et al. Novel mutations of the P gene in type II oculocotaneous albinism (OCA II). Hum Mutat 1997;10:175-177.
-
(1997)
Hum Mutat
, vol.10
, pp. 175-177
-
-
Spritz, R.A.1
Lee, S.-T.2
Fukai, K.3
-
12
-
-
0027478888
-
A frequent tyrosinase gene mutation associated with type 1-A (tyrosinase negative) oculocutaneous albinism in Puerto Rico
-
Oetting WS, Witkop CJ, Brown SA, et al. A frequent tyrosinase gene mutation associated with type 1-A (tyrosinase negative) oculocutaneous albinism in Puerto Rico. Am J Hum Genet 1993;52:17-23.
-
(1993)
Am J Hum Genet
, vol.52
, pp. 17-23
-
-
Oetting, W.S.1
Witkop, C.J.2
Brown, S.A.3
-
13
-
-
0027436609
-
Mutations of the tyrosinase gene in Indo-Pakistani patients with type 1 (tyrosinase-deficient) oculocutaneous albinism (OCA)
-
Tripathi RK, Bundey S, Musarella A, et al. Mutations of the tyrosinase gene in Indo-Pakistani patients with type 1 (tyrosinase-deficient) oculocutaneous albinism (OCA). Am J Hum Genet 1993;53:1173-1179.
-
(1993)
Am J Hum Genet
, vol.53
, pp. 1173-1179
-
-
Tripathi, R.K.1
Bundey, S.2
Musarella, A.3
-
14
-
-
0031591050
-
Prevalent and novel mutations of the tyrosinase gene in Korean patients with tyrosinase-deficient oculocutaneous albinism
-
Park SK, Lee KH, Park KC, Lee JS, Spritz RA, Lee ST. Prevalent and novel mutations of the tyrosinase gene in Korean patients with tyrosinase-deficient oculocutaneous albinism. Mol Cells 1997;7:187-191.
-
(1997)
Mol Cells
, vol.7
, pp. 187-191
-
-
Park, S.K.1
Lee, K.H.2
Park, K.C.3
Lee, J.S.4
Spritz, R.A.5
Lee, S.T.6
-
15
-
-
0029059066
-
Cloning of the gene for ocular albinism type I from the distal short arm of the X chromosome
-
Bassi T, Schiaffino MV, Renieri A, et al. Cloning of the gene for ocular albinism type I from the distal short arm of the X chromosome. Nat Genet 1995;10:13-19.
-
(1995)
Nat Genet
, vol.10
, pp. 13-19
-
-
Bassi, T.1
Schiaffino, M.V.2
Renieri, A.3
-
16
-
-
0028878474
-
Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism
-
Fukai K, Holms SA, Lucchese NJ, et al. Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism. Nat Genet 1995;9: 92-95.
-
(1995)
Nat Genet
, vol.9
, pp. 92-95
-
-
Fukai, K.1
Holms, S.A.2
Lucchese, N.J.3
-
17
-
-
17344374015
-
OA1 mutations and deletions in X-linked ocular albinism
-
Schnur RE, Gao M, Wick PA, et al. OA1 mutations and deletions in X-linked ocular albinism. Am J Hum Genet 1998;62:800-809.
-
(1998)
Am J Hum Genet
, vol.62
, pp. 800-809
-
-
Schnur, R.E.1
Gao, M.2
Wick, P.A.3
-
18
-
-
0344931202
-
Ultrastructural identification of melanocytes in early human embryo
-
Riley V, ed. New York: Appleton-Century Crofts
-
Sagebiel RA, Odland GF. Ultrastructural identification of melanocytes in early human embryo. In: Riley V, ed. Pigmentation; Its Genesis and Biologic Control. New York: Appleton-Century Crofts, 1972;43-50.
-
(1972)
Pigmentation; Its Genesis and Biologic Control
, pp. 43-50
-
-
Sagebiel, R.A.1
Odland, G.F.2
-
19
-
-
0019483281
-
Can oculocutaneous albinism be diagnosed prenatally?
-
Hayenes ME, Robertson E. Can oculocutaneous albinism be diagnosed prenatally? Prenat Diagn 1981;1:81-89.
-
(1981)
Prenat Diagn
, vol.1
, pp. 81-89
-
-
Hayenes, M.E.1
Robertson, E.2
-
21
-
-
0026426423
-
Prenatal diagnosis of oculocutaneous albinism
-
Rosenmann A, Levin A, Ne'eman Z, Yanku L, Shenker Y, Rosenmann E. Prenatal diagnosis of oculocutaneous albinism. J Isr Med Assoc 1991;120:703-704.
-
(1991)
J Isr Med Assoc
, vol.120
, pp. 703-704
-
-
Rosenmann, A.1
Levin, A.2
Ne'eman, Z.3
Yanku, L.4
Shenker, Y.5
Rosenmann, E.6
-
22
-
-
0026082646
-
Dopa reaction test in hair bulbs of fetuses and its application to the prenatal diagnosis of albinism
-
Gershoni-Baruch R, Benderly A, Brandes JM, Gilhar A. Dopa reaction test in hair bulbs of fetuses and its application to the prenatal diagnosis of albinism. J Am Acad Dermatol 1992;24:220-222.
-
(1992)
J Am Acad Dermatol
, vol.24
, pp. 220-222
-
-
Gershoni-Baruch, R.1
Benderly, A.2
Brandes, J.M.3
Gilhar, A.4
-
23
-
-
0026808572
-
Prenatal diagnosis of tyrosinase-negative oculocutaneous albinism
-
Shimizu H, Ishiko A, Kikuchi A, Akiyama M, Suzumori K, Nishikawa T. Prenatal diagnosis of tyrosinase-negative oculocutaneous albinism [letter]. Lancet 1992;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
-
24
-
-
0028451590
-
Prenatal diagnosis of tyrosinase negative oculocutaneous albinism by electron microscopic dopa reaction test of fetal skin
-
Shimizu H, Ishiko A, Kikuchi A, Akiyama M, Suzumori K, Nishikawa T. Prenatal diagnosis of tyrosinase negative oculocutaneous albinism by electron microscopic dopa reaction test of fetal skin. Prenat Diagn 1994;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
-
25
-
-
0029049411
-
Epidermal melanocytes in normal and tyrosinase-negative albinism fetuses
-
Kikuchi A, Shimizu H, Nishikawa T. Epidermal melanocytes in normal and tyrosinase-negative albinism fetuses. Arch Dermatol Res 1995;287:529-533.
-
(1995)
Arch Dermatol Res
, vol.287
, pp. 529-533
-
-
Kikuchi, A.1
Shimizu, H.2
Nishikawa, T.3
-
26
-
-
0027209853
-
A dinucleotide deletion (-GA115) in the tyrosinase gene responsible for type 1-A (tyrosinase negative) oclocutaneous albisim in a Pakistani individual
-
Oetting WS, Fryer JP, King RA. A dinucleotide deletion (-GA115) in the tyrosinase gene responsible for type 1-A (tyrosinase negative) oclocutaneous albisim in a Pakistani individual. Hum Mol Genet 1993;2:1047-1048.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 1047-1048
-
-
Oetting, W.S.1
Fryer, J.P.2
King, R.A.3
-
27
-
-
0031064254
-
Sequence analysis of the human tyrosinase promoter from a patient with tyrosinase-negative oculocutaneous albinism
-
Matsunaga J, Dakeishi M, Miyamura Y, Tomita Y. Sequence analysis of the human tyrosinase promoter from a patient with tyrosinase-negative oculocutaneous albinism. Pigment Cell Res 1997;10:64-67.
-
(1997)
Pigment Cell Res
, vol.10
, pp. 64-67
-
-
Matsunaga, J.1
Dakeishi, M.2
Miyamura, Y.3
Tomita, Y.4
-
28
-
-
0027531665
-
Molecular basis of type I (tyrosinase related) oculocutaneous albinism: Mutations and polymorphisms of the human tyrosinase gene
-
Oetting WS, King RA. Molecular basis of type I (tyrosinase related) oculocutaneous albinism: mutations and polymorphisms of the human tyrosinase gene. Hum Mutat 1993;2: 1-6.
-
(1993)
Hum Mutat
, vol.2
, pp. 1-6
-
-
Oetting, W.S.1
King, R.A.2
-
30
-
-
0021148011
-
Prenatal diagnosis of oculocutaneous albinism: Implications for other hereditary disorders of pigmentation
-
Eady RAJ. Prenatal diagnosis of oculocutaneous albinism: implications for other hereditary disorders of pigmentation. Semin Dermatol 1984;3:241-246.
-
(1984)
Semin Dermatol
, vol.3
, pp. 241-246
-
-
Eady, R.A.J.1
-
31
-
-
0031013749
-
Technical advances in prenatal diagnosis of tyrosinase-negative oculocutaneous albinism
-
Shimizu H. Technical advances in prenatal diagnosis of tyrosinase-negative oculocutaneous albinism. Acta Dermatol Venereol 1997;77:10-13.
-
(1997)
Acta Dermatol Venereol
, vol.77
, pp. 10-13
-
-
Shimizu, H.1
-
32
-
-
0028246228
-
Prenatal diagnosis of oculocutaneous albinism by analysis of the fetal tyrosinase gene
-
Shimizu H, Niizeki H, Suzumori K, et al. Prenatal diagnosis of oculocutaneous albinism by analysis of the fetal tyrosinase gene. J Invest Dermatol 1994;103:104-106.
-
(1994)
J Invest Dermatol
, vol.103
, pp. 104-106
-
-
Shimizu, H.1
Niizeki, H.2
Suzumori, K.3
-
33
-
-
85044686000
-
Molecular bases of tyrosine-negative oculocutaneous albinism: A single base insertion or a missense point mutation in the tyrosinase gene
-
Tomita Y, Takeda A, Matsunaga J, Okinaga S, Shibahara S, Tagami H. Molecular bases of tyrosine-negative oculocutaneous albinism: a single base insertion or a missense point mutation in the tyrosinase gene. Pigment Cell Res Suppl 1992;2:96-100.
-
(1992)
Pigment Cell Res Suppl
, vol.2
, pp. 96-100
-
-
Tomita, Y.1
Takeda, A.2
Matsunaga, J.3
Okinaga, S.4
Shibahara, S.5
Tagami, H.6
-
34
-
-
0031418802
-
DNA-based prenatal diagnosis of a Korean family with tyrosinase-related oculocutaneous albinism (OCA I)
-
Lee ST, Park SK, Lee H, Lee JS, Park YW. DNA-based prenatal diagnosis of a Korean family with tyrosinase-related oculocutaneous albinism (OCA I). Jpn J Hum Genet 1997;42:499-505.
-
(1997)
Jpn J Hum Genet
, vol.42
, pp. 499-505
-
-
Lee, S.T.1
Park, S.K.2
Lee, H.3
Lee, J.S.4
Park, Y.W.5
-
35
-
-
24444465834
-
Molecular analysis of type I oculocutaneous albinism in Taiwanese
-
Tsai FJ, Wu JY, Lin SP, Yang CF, Peng CT, Tsai CH. Molecular analysis of type I oculocutaneous albinism in Taiwanese. Am J Hum Genet 1998;63:A389.
-
(1998)
Am J Hum Genet
, vol.63
-
-
Tsai, F.J.1
Wu, J.Y.2
Lin, S.P.3
Yang, C.F.4
Peng, C.T.5
Tsai, C.H.6
-
36
-
-
0028937722
-
DNA-based carrier detection and prenatal diagnosis of tyrosinase-negative oculocutaneous albinism (OCA IA)
-
Falik-Borenstein TC, Holmes SA, Borochowitz Z, Levin A, Rosenmann A, Spritz RA. DNA-based carrier detection and prenatal diagnosis of tyrosinase-negative oculocutaneous albinism (OCA IA). Prenat Diagn 1995;15:345-349.
-
(1995)
Prenat Diagn
, vol.15
, pp. 345-349
-
-
Falik-Borenstein, T.C.1
Holmes, S.A.2
Borochowitz, Z.3
Levin, A.4
Rosenmann, A.5
Spritz, R.A.6
-
37
-
-
0027175921
-
Localisation of the gene for familial dysautonomia on chromosome 9 and definition of DNA markers for genetic diagnosis
-
Blumenfeld A, Slaugenhaupt SA, Axelrod FB, et al. Localisation of the gene for familial dysautonomia on chromosome 9 and definition of DNA markers for genetic diagnosis. Nat Genet 1993;4:160-164.
-
(1993)
Nat Genet
, vol.4
, pp. 160-164
-
-
Blumenfeld, A.1
Slaugenhaupt, S.A.2
Axelrod, F.B.3
-
38
-
-
0028293092
-
Single-strand conformation polymorphism analysis of point mutation in tyrsinase-negative oculocutaneous albinism
-
Park KC, Kim KH, Lee YS, Kwon BS. Single-strand conformation polymorphism analysis of point mutation in tyrsinase-negative oculocutaneous albinism. J Inherit Metab Dis 1994;17:123-126.
-
(1994)
J Inherit Metab Dis
, vol.17
, pp. 123-126
-
-
Park, K.C.1
Kim, K.H.2
Lee, Y.S.3
Kwon, B.S.4
-
39
-
-
0028268129
-
Analysis of tyrosinase gene mutations using direct automated infrared fluorescence DNA sequencing of amplified exons
-
Oetting WS, Fryer PJ, Oofuji Y, et al. Analysis of tyrosinase gene mutations using direct automated infrared fluorescence DNA sequencing of amplified exons. Electrophoresis 1994;15:159-164.
-
(1994)
Electrophoresis
, vol.15
, pp. 159-164
-
-
Oetting, W.S.1
Fryer, P.J.2
Oofuji, Y.3
|