-
2
-
-
33645097316
-
Ectopic expression of tyrosine hydroxylase in the pigmented epithelium rescues the retinal abnormalities and visual function common in albinos in the absence of melanin
-
Lavado A., Jeffery G., Tovar V., de la Villa P., Montoliu L. Ectopic expression of tyrosine hydroxylase in the pigmented epithelium rescues the retinal abnormalities and visual function common in albinos in the absence of melanin. J Neurochem 2006, 96:1201-1211.
-
(2006)
J Neurochem
, vol.96
, pp. 1201-1211
-
-
Lavado, A.1
Jeffery, G.2
Tovar, V.3
de la Villa, P.4
Montoliu, L.5
-
3
-
-
84890789371
-
Increasing the complexity: new genes and new types of albinism
-
Montoliu L., Grønskov K., Wei A.H., Martínez-García M., Fernández A., Arveiler B., et al. Increasing the complexity: new genes and new types of albinism. Pigment Cell Melanoma Res 2013, 27:11-18.
-
(2013)
Pigment Cell Melanoma Res
, vol.27
, pp. 11-18
-
-
Montoliu, L.1
Grønskov, K.2
Wei, A.H.3
Martínez-García, M.4
Fernández, A.5
Arveiler, B.6
-
4
-
-
84878135768
-
DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics
-
Simeonov D.R., Wang X., Wang C., Sergeev Y., Dolinska M., Bower M., et al. DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics. Hum Mutat 2013, 34:827-835.
-
(2013)
Hum Mutat
, vol.34
, pp. 827-835
-
-
Simeonov, D.R.1
Wang, X.2
Wang, C.3
Sergeev, Y.4
Dolinska, M.5
Bower, M.6
-
5
-
-
78951486546
-
High resolution mapping of OCA2 intragenic rearrangements and identification of a founder effect associated with a deletion in Polish albino patients
-
Roorick C., Morice-Picard F., Lasseaux E., Cailley D., Dollfus H., et al. High resolution mapping of OCA2 intragenic rearrangements and identification of a founder effect associated with a deletion in Polish albino patients. Hum Genet 2011 2011, 129:199-208.
-
(2011)
Hum Genet 2011
, vol.129
, pp. 199-208
-
-
Roorick, C.1
Morice-Picard, F.2
Lasseaux, E.3
Cailley, D.4
Dollfus, H.5
-
6
-
-
84869795209
-
An overview of oculocutaneous albinism: TYR gene mutations in five Colombian individuals
-
[in Spanish]
-
Sanabria D., Groot H., Guzman J., Lattig M.C. An overview of oculocutaneous albinism: TYR gene mutations in five Colombian individuals. Biomedica 2012, 32:269-276. [in Spanish].
-
(2012)
Biomedica
, vol.32
, pp. 269-276
-
-
Sanabria, D.1
Groot, H.2
Guzman, J.3
Lattig, M.C.4
-
7
-
-
34249740320
-
Isonymy analysis between 2 populations in Northwestern Colombia
-
[in Spanish]
-
Bedoya G., García J., Montoya P., Rojas W., Amézquita M.E., Soto I., et al. Isonymy analysis between 2 populations in Northwestern Colombia. Biomedica 2006, 26:538-545. [in Spanish].
-
(2006)
Biomedica
, vol.26
, pp. 538-545
-
-
Bedoya, G.1
García, J.2
Montoya, P.3
Rojas, W.4
Amézquita, M.E.5
Soto, I.6
-
8
-
-
61749088464
-
The R402Q tyrosinase variant does not cause autosomal recessive ocular albinism
-
Oetting W.S., Pietsch J., Brott M.J., Savage S., Fryer J.P., et al. The R402Q tyrosinase variant does not cause autosomal recessive ocular albinism. Am J Med Genet A 2009, 149A:466-469.
-
(2009)
Am J Med Genet A
, vol.149 A
, pp. 466-469
-
-
Oetting, W.S.1
Pietsch, J.2
Brott, M.J.3
Savage, S.4
Fryer, J.P.5
-
9
-
-
0034697167
-
A common temperature-sensitive allelic form of human tyrosinase is retained in the endoplasmic reticulum at the nonpermissive temperature
-
Berson J.F., Frank D.W., Calvo P.A., Bieler B.M., Marks M.S. A common temperature-sensitive allelic form of human tyrosinase is retained in the endoplasmic reticulum at the nonpermissive temperature. J Biol Chem 2010, 275:12281-12289.
-
(2010)
J Biol Chem
, vol.275
, pp. 12281-12289
-
-
Berson, J.F.1
Frank, D.W.2
Calvo, P.A.3
Bieler, B.M.4
Marks, M.S.5
-
10
-
-
79955592714
-
Screening of TYR, OCA2, GPR143, and MC1R in patients with congenital nystagmus, macular hypoplasia, and fundus hypopigmentation indicating albinism
-
Preising M.N., Forster H., Gonser M., Lorenz B. Screening of TYR, OCA2, GPR143, and MC1R in patients with congenital nystagmus, macular hypoplasia, and fundus hypopigmentation indicating albinism. Mol Vis 2011, 17:939-948.
-
(2011)
Mol Vis
, vol.17
, pp. 939-948
-
-
Preising, M.N.1
Forster, H.2
Gonser, M.3
Lorenz, B.4
|