-
1
-
-
15844382545
-
Histology of fetal eyes with oculocutaneous albinism
-
Akeo K, Shirai S, Okisaka S, et al. 1996. Histology of fetal eyes with oculocutaneous albinism. Arch Ophthalmol 114(5): 613-616.
-
(1996)
Arch Ophthalmol
, vol.114
, Issue.5
, pp. 613-616
-
-
Akeo, K.1
Shirai, S.2
Okisaka, S.3
-
2
-
-
0035996989
-
The oculocutaneous albinism type IV gene MATP is a new marker of pigment cell precursors during mouse embryonic development
-
Baxter LL, Pavan WJ. 2002. The oculocutaneous albinism type IV gene MATP is a new marker of pigment cell precursors during mouse embryonic development. Mech Dev 116(1-2): 209-212.
-
(2002)
Mech Dev
, vol.116
, Issue.1-2
, pp. 209-212
-
-
Baxter, L.L.1
Pavan, W.J.2
-
3
-
-
11144239946
-
Melanocyte-specific proteins are aberrantly trafficked in rnelanocytes of Hermansky-Pudlak syndrome-type 3
-
Boissy RE, Richmond B, Huizing M, et al. 2005. Melanocyte-specific proteins are aberrantly trafficked in rnelanocytes of Hermansky-Pudlak syndrome-type 3. Am J Pathol 166(1): 231-240.
-
(2005)
Am J Pathol
, vol.166
, Issue.1
, pp. 231-240
-
-
Boissy, R.E.1
Richmond, B.2
Huizing, M.3
-
4
-
-
0347089081
-
Rapid prenatal diagnosis of X-linked chronic granulomatous disease using a denaturing high-performance liquid chromatography (DHPLC) system
-
Chien SC, Lee CN, Hung CC, Tsao PN, Su YN, Hsieh FJ. 2003. Rapid prenatal diagnosis of X-linked chronic granulomatous disease using a denaturing high-performance liquid chromatography (DHPLC) system. Prenat Diagn 23(13): 1092-1096.
-
(2003)
Prenat Diagn
, vol.23
, Issue.13
, pp. 1092-1096
-
-
Chien, S.C.1
Lee, C.N.2
Hung, C.C.3
Tsao, P.N.4
Su, Y.N.5
Hsieh, F.J.6
-
5
-
-
0020695709
-
Prenatal diagnosis of oculocutaneous albinism by electron microscopy of fetal skin
-
Eady RA, Gunner DB, Garner A, Rodeck CH. 1983. Prenatal diagnosis of oculocutaneous albinism by electron microscopy of fetal skin. J Invest Dermatol 80(3): 210-212.
-
(1983)
J Invest Dermatol
, vol.80
, Issue.3
, pp. 210-212
-
-
Eady, R.A.1
Gunner, D.B.2
Garner, A.3
Rodeck, C.H.4
-
6
-
-
0035062932
-
Prenatal diagnosis of oculocutaneous albinism two mutations located at the same allele
-
Hsieh YY, Wu JY, Chang CC, et al. 2001. Prenatal diagnosis of oculocutaneous albinism two mutations located at the same allele. Prenat Diagn 21(3): 200-201.
-
(2001)
Prenat Diagn
, vol.21
, Issue.3
, pp. 200-201
-
-
Hsieh, Y.Y.1
Wu, J.Y.2
Chang, C.C.3
-
7
-
-
23444448013
-
Denaturing HPLC coupled with multiplex PCR for rapid detection of large deletions in Duchenne muscular dystrophy carriers
-
Hung CC, Su YN, Lin CY, et al. 2005. Denaturing HPLC Coupled with multiplex PCR for Rapid Detection of Large Deletions in Duchenne Muscular Dystrophy Carriers. Clin Chem. 51: 1252-1256.
-
(2005)
Clin Chem
, vol.51
, pp. 1252-1256
-
-
Hung, C.C.1
Su, Y.N.2
Lin, C.Y.3
-
8
-
-
0037406372
-
A novel P gene missense mutation in a Japanese patient with oculocutaneous albinism type II (OCA2)
-
Kato A, Fukai K, Oiso N, et al. 2003. A novel P gene missense mutation in a Japanese patient with oculocutaneous albinism type II (OCA2). J Dermatol Sci 31(3): 189-192.
-
(2003)
J Dermatol Sci
, vol.31
, Issue.3
, pp. 189-192
-
-
Kato, A.1
Fukai, K.2
Oiso, N.3
-
9
-
-
0029049411
-
Epidermal melanocytes in normal and tyrosinase-negative oculocutaneous albinism fetuses
-
Kikuchi A, Shimizu H, Nishikawa T. 1995. Epidermal melanocytes in normal and tyrosinase-negative oculocutaneous albinism fetuses. Arch Dermatol Res 287(6): 529-533.
-
(1995)
Arch Dermatol Res
, vol.287
, Issue.6
, pp. 529-533
-
-
Kikuchi, A.1
Shimizu, H.2
Nishikawa, T.3
-
10
-
-
0028012857
-
Postnatal testing for unusual genodermatoses
-
Levy ML, Magee W. 1994. Postnatal testing for unusual genodermatoses. Dermatol Clin 12(1): 93-97.
-
(1994)
Dermatol Clin
, vol.12
, Issue.1
, pp. 93-97
-
-
Levy, M.L.1
Magee, W.2
-
11
-
-
0033815395
-
The tyrosinase gene and oculocutaneous albinism type 1 (OCA1): A model for understanding the molecular biology of melanin formation
-
Getting WS. 2000. The tyrosinase gene and oculocutaneous albinism type 1 (OCA1): A model for understanding the molecular biology of melanin formation. Pigment Cell Res 13(5): 320-325.
-
(2000)
Pigment Cell Res
, vol.13
, Issue.5
, pp. 320-325
-
-
Getting, W.S.1
-
12
-
-
0038578684
-
Oculocutaneous albinism type 1: The last 100 years
-
Getting WS, Fryer JP, Shriram S, King RA. 2003. Oculocutaneous albinism type 1: the last 100 years. Pigment Cell Res 16(3): 307-311.
-
(2003)
Pigment Cell Res
, vol.16
, Issue.3
, pp. 307-311
-
-
Getting, W.S.1
Fryer, J.P.2
Shriram, S.3
King, R.A.4
-
13
-
-
29444456332
-
P gene mutations associated with oculocutaneous albinism type II (OCA2)
-
Getting WS, Garrett SS, Brott M, King RA. 2005. P gene mutations associated with oculocutaneous albinism type II (OCA2). Hum Mutat 25(3): 323-323.
-
(2005)
Hum Mutat
, vol.25
, Issue.3
, pp. 323-323
-
-
Getting, W.S.1
Garrett, S.S.2
Brott, M.3
King, R.A.4
-
14
-
-
0038025481
-
Oculocutaneous albinism
-
Okulicz JF, Shah RS, Schwartz RA, Janniger CK. 2003. Oculocutaneous albinism. J Eur Acad Dermatol Venereol 17(3): 251-256.
-
(2003)
J Eur Acad Dermatol Venereol
, vol.17
, Issue.3
, pp. 251-256
-
-
Okulicz, J.F.1
Shah, R.S.2
Schwartz, R.A.3
Janniger, C.K.4
-
15
-
-
0032864824
-
Prenatal diagnosis of oculocutaneous albinism type I: Review and personal experience
-
Rosenmann E, Rosenmann A, Ne'eman Z, Lewin A, Bejarano-Achache I, Blumenfeld A. 1999. Prenatal diagnosis of oculocutaneous albinism type I: review and personal experience. Pediatr Dev Pathol 2(5): 404-414.
-
(1999)
Pediatr Dev Pathol
, vol.2
, Issue.5
, pp. 404-414
-
-
Rosenmann, E.1
Rosenmann, A.2
Ne'eman, Z.3
Lewin, A.4
Bejarano-Achache, I.5
Blumenfeld, A.6
-
16
-
-
0028451590
-
Prenatal diagnosis of tyrosinase-negative oculocutaneous albinism by an electron microscopic dopa reaction test of fetal skin
-
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(6): 442-450.
-
(1994)
Prenat Diagn
, vol.14
, Issue.6
, pp. 442-450
-
-
Shimizu, H.1
Ishiko, A.2
Kikuchi, A.3
Akiyama, M.4
Suzumori, K.5
Nishikawa, T.6
-
17
-
-
0028022094
-
Molecular genetics of oculocutaneous albinism
-
Spritz RA. 1994. Molecular genetics of oculocutaneous albinism. Hum Mol Genet 3 Spec No: 1469-1475.
-
(1994)
Hum Mol Genet
, vol.3
, Issue.SPEC. NO.
, pp. 1469-1475
-
-
Spritz, R.A.1
-
18
-
-
0141642025
-
Rapid detection of beta-globin gene (HBB) mutations coupling heteroduplex and primer-extension analysis by DHPLC
-
Su YN, Lee CN, Hung CC, et al. 2003. Rapid detection of beta-globin gene (HBB) mutations coupling heteroduplex and primer-extension analysis by DHPLC. Hum Mutat 22(4): 326-336.
-
(2003)
Hum Mutat
, vol.22
, Issue.4
, pp. 326-336
-
-
Su, Y.N.1
Lee, C.N.2
Hung, C.C.3
-
19
-
-
13244281771
-
A Korean case of oculocutaneous albinism type IV caused by a D157N mutation in the MATP gene
-
Suzuki T, Inagaki K, Fukai K, Obana A, Lee ST, Tomita Y. 2005. A Korean case of oculocutaneous albinism type IV caused by a D157N mutation in the MATP gene. Br J Dermatol 152(1): 174-175.
-
(2005)
Br J Dermatol
, vol.152
, Issue.1
, pp. 174-175
-
-
Suzuki, T.1
Inagaki, K.2
Fukai, K.3
Obana, A.4
Lee, S.T.5
Tomita, Y.6
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