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Items: 1 to 20 of 108

1.

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.

J Am Acad Dermatol. 1991 Feb;24(2 Pt 1):220-2.

PMID:
1901069
2.

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.

Prenat Diagn. 1994 Jun;14(6):442-50.

PMID:
7937580
3.
4.

Epidermal melanocytes in normal and tyrosinase-negative oculocutaneous albinism fetuses.

Kikuchi A, Shimizu H, Nishikawa T.

Arch Dermatol Res. 1995;287(6):529-33.

PMID:
7487137
5.

Electron microscopic DOPA reaction test for oculocutaneous albinism.

Takizawa Y, Kato S, Matsunaga J, Aozaki R, Tomita Y, Nishikawa T, Shimizu H.

Arch Dermatol Res. 2000 Jun;292(6):301-5.

PMID:
10929771
6.

[Prenatal diagnosis of albinism].

Rosenmann A, Levin A, Neeman Z, Yanko L, Shenker JG, Rosenmann E.

Harefuah. 1991 Jun 16;120(12):703-4. Hebrew.

PMID:
1959803
7.

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.

Pediatr Dev Pathol. 1999 Sep-Oct;2(5):404-14.

PMID:
10441617
8.

Prenatal diagnosis of oculocutaneous albinism by analysis of the fetal tyrosinase gene.

Shimizu H, Niizeki H, Suzumori K, Aozaki R, Kawaguchi R, Hikiji K, Nishikawa T.

J Invest Dermatol. 1994 Jul;103(1):104-6.

9.

Histology of fetal eyes with oculocutaneous albinism.

Akeo K, Shirai S, Okisaka S, Shimizu H, Miyata H, Kikuchi A, Nishikawa T, Suzumori K, Fujiwara T, Majima A.

Arch Ophthalmol. 1996 May;114(5):613-6.

PMID:
8619776
10.

DNA-based prenatal diagnosis of a Korean family with tyrosinase-related oculocutaneous albinism (OCA1).

Lee ST, Park SK, Lee H, Lee JS, Park YW.

Jpn J Hum Genet. 1997 Dec;42(4):499-505.

PMID:
9560949
11.

Red or rufous albinism in southern Africa.

Kromberg JG, Castle DJ, Zwane EM, Bothwell J, Kidson S, Bartel P, Phillips JI, Jenkins T.

Ophthalmic Paediatr Genet. 1990 Sep;11(3):229-35.

PMID:
2126368
12.

DNA-based carrier detection and prenatal diagnosis of tyrosinase-negative oculocutaneous albinism (OCA1A).

Falik-Borenstein TC, Holmes SA, Borochowitz Z, Levin A, Rosenmann A, Spritz RA.

Prenat Diagn. 1995 Apr;15(4):345-9.

PMID:
7617575
13.

Temperature-sensitive tyrosinase associated with peripheral pigmentation in oculocutaneous albinism.

King RA, Townsend D, Oetting W, Summers CG, Olds DP, White JG, Spritz RA.

J Clin Invest. 1991 Mar;87(3):1046-53.

14.
15.

Characterization of human hairbulb tyrosinase: properties of normal and albino enzyme.

King RA, Olds DP, Witkop CJ.

J Invest Dermatol. 1978 Aug;71(2):136-9.

16.

Prenatal molecular diagnosis of oculocutaneous albinism (OCA) in a large cohort of Israeli families.

Rosenmann A, Bejarano-Achache I, Eli D, Maftsir G, Mizrahi-Meissonnier L, Blumenfeld A.

Prenat Diagn. 2009 Oct;29(10):939-46. doi: 10.1002/pd.2317.

PMID:
19626598
17.
18.

Hypopigmentation in Angelman syndrome.

King RA, Wiesner GL, Townsend D, White JG.

Am J Med Genet. 1993 Apr 1;46(1):40-4.

PMID:
8494033
19.
20.

Variable expression of vision in sibs with albinism.

Summers CG, Creel D, Townsend D, King RA.

Am J Med Genet. 1991 Sep 1;40(3):327-31.

PMID:
1951438

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