A citation-based method for searching scientific literature

S Saitoh, N Oiso, T Wada, O Narazaki, K Fukai. J Med Genet 2000
Times Cited: 18







List of co-cited articles
126 articles co-cited >1



Times Cited
  Times     Co-cited
Similarity


A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism.
E M Rinchik, S J Bultman, B Horsthemke, S T Lee, K M Strunk, R A Spritz, K M Avidano, M T Jong, R D Nicholls. Nature 1993
323
61

Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism.
S T Lee, R D Nicholls, S Bundey, R Laxova, M Musarella, R A Spritz. N Engl J Med 1994
164
55

Aberrant pH of melanosomes in pink-eyed dilution (p) mutant melanocytes.
N Puri, J M Gardner, M H Brilliant. J Invest Dermatol 2000
121
33

African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism.
D Durham-Pierre, J M Gardner, Y Nakatsu, R A King, U Francke, A Ching, R Aquaron, V del Marmol, M H Brilliant. Nat Genet 1994
87
33

The mouse pink-eyed dilution gene: association with human Prader-Willi and Angelman syndromes.
J M Gardner, Y Nakatsu, Y Gondo, S Lee, M F Lyon, R A King, M H Brilliant. Science 1992
196
33



The tyrosinase-positive oculocutaneous albinism locus maps to chromosome 15q11.2-q12.
M Ramsay, M A Colman, G Stevens, E Zwane, J Kromberg, M Farrall, T Jenkins. Am J Hum Genet 1992
88
27


Angelman syndrome associated with oculocutaneous albinism due to an intragenic deletion of the P gene.
C Fridman, N Hosomi, M C Varela, A H Souza, K Fukai, C P Koiffmann. Am J Med Genet A 2003
24
27

Identification of a melanosomal membrane protein encoded by the pink-eyed dilution (type II oculocutaneous albinism) gene.
S Rosemblat, D Durham-Pierre, J M Gardner, Y Nakatsu, M H Brilliant, S J Orlow. Proc Natl Acad Sci U S A 1994
119
22

Hypopigmentation in the Prader-Willi syndrome correlates with P gene deletion but not with haplotype of the hemizygous P allele.
R A Spritz, T Bailin, R D Nicholls, S T Lee, S K Park, M J Mascari, M G Butler. Am J Med Genet 1997
75
22




Type 2 oculocutaneous albinism (OCA2) in Zimbabwe and Cameroon: distribution of the 2.7-kb deletion allele of the P gene.
N Puri, D Durbam-Pierre, R Aquaron, P M Lund, R A King, M H Brilliant. Hum Genet 1997
23
22

Angelman syndrome: consensus for diagnostic criteria. Angelman Syndrome Foundation.
C A Williams, H Angelman, J Clayton-Smith, D J Driscoll, J E Hendrickson, J H Knoll, R E Magenis, A Schinzel, J Wagstaff, E M Whidden. Am J Med Genet 1995
252
22

Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons.
U Albrecht, J S Sutcliffe, B M Cattanach, C V Beechey, D Armstrong, G Eichele, A L Beaudet. Nat Genet 1997
367
22

UBE3A/E6-AP mutations cause Angelman syndrome.
T Kishino, M Lalande, J Wagstaff. Nat Genet 1997
877
22

Molecular diagnosis of oculocutaneous albinism: new mutations in the OCA1-4 genes and practical aspects.
Caroline Rooryck, Fanny Morice-Picard, Nursel H Elçioglu, Didier Lacombe, Alain Taieb, Benoît Arveiler. Pigment Cell Melanoma Res 2008
63
22

Human oculocutaneous albinism caused by single base insertion in the tyrosinase gene.
Y Tomita, A Takeda, S Okinaga, H Tagami, S Shibahara. Biochem Biophys Res Commun 1989
162
16

Molecular and clinical study of 61 Angelman syndrome patients.
S Saitoh, N Harada, Y Jinno, K Hashimoto, K Imaizumi, Y Kuroki, Y Fukushima, T Sugimoto, M Renedo, J Wagstaff. Am J Med Genet 1994
72
16

Angelman syndrome: a review of clinical and genetic aspects.
L A Laan, A v Haeringen, O F Brouwer. Clin Neurol Neurosurg 1999
53
16

Melanosomal defects in melanocytes from mice lacking expression of the pink-eyed dilution gene: correction by culture in the presence of excess tyrosine.
S Rosemblat, E V Sviderskaya, D J Easty, A Wilson, B S Kwon, D C Bennett, S J Orlow. Exp Cell Res 1998
44
16

The spectrum of mutations in UBE3A causing Angelman syndrome.
P Fang, E Lev-Lehman, T F Tsai, T Matsuura, C S Benton, J S Sutcliffe, S L Christian, T Kubota, D J Halley, H Meijers-Heijboer,[...]. Hum Mol Genet 1999
110
16


Clinical features in 27 patients with Angelman syndrome resulting from DNA deletion.
A Smith, C Wiles, E Haan, J McGill, G Wallace, J Dixon, R Selby, A Colley, R Marks, R J Trent. J Med Genet 1996
80
16

Hypopigmentation in Angelman syndrome.
R A King, G L Wiesner, D Townsend, J G White. Am J Med Genet 1993
25
16

The mouse pink-eyed dilution gene: association with hypopigmentation in Prader-Willi and Angelman syndromes and with human OCA2.
M H Brilliant, R King, U Francke, S Schuffenhauer, T Meitinger, J M Gardner, D Durham-Pierre, Y Nakatsu. Pigment Cell Res 1994
21
16

Genome organization, function, and imprinting in Prader-Willi and Angelman syndromes.
R D Nicholls, J L Knepper. Annu Rev Genomics Hum Genet 2001
414
16

Angelman syndrome in adulthood.
L A Laan, A T den Boer, R C Hennekam, W O Renier, O F Brouwer. Am J Med Genet 1996
57
16

Distinct phenotypes distinguish the molecular classes of Angelman syndrome.
A C Lossie, M M Whitney, D Amidon, H J Dong, P Chen, D Theriaque, A Hutson, R D Nicholls, R T Zori, C A Williams,[...]. J Med Genet 2001
228
16

Clinical profile of Angelman syndrome at different ages.
I M Buntinx, R C Hennekam, O F Brouwer, H Stroink, J Beuten, K Mangelschots, J P Fryns. Am J Med Genet 1995
104
16

De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome.
T Matsuura, J S Sutcliffe, P Fang, R J Galjaard, Y H Jiang, C S Benton, J M Rommens, A L Beaudet. Nat Genet 1997
607
16



Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism.
K Fukai, S A Holmes, N J Lucchese, V M Siu, R G Weleber, R E Schnur, R A Spritz. Nat Genet 1995
54
16

The etiology of oculocutaneous albinism (OCA) type II: the pink protein modulates the processing and transport of tyrosinase.
Kazutomo Toyofuku, Julio C Valencia, Tsuneto Kushimoto, Gertrude-E Costin, Victoria M Virador, Wilfred D Vieira, Victor J Ferrans, Vincent J Hearing. Pigment Cell Res 2002
81
16

Pink-eyed dilution protein modulates arsenic sensitivity and intracellular glutathione metabolism.
Liliana Staleva, Prashiela Manga, Seth J Orlow. Mol Biol Cell 2002
46
16


P gene mutations associated with oculocutaneous albinism type II (OCA2).
William S Oetting, Sarah Savage Garrett, Marcia Brott, Richard A King. Hum Mutat 2005
41
16

Six novel P gene mutations and oculocutaneous albinism type 2 frequency in Japanese albino patients.
Tamio Suzuki, Yoshinori Miyamura, Jun Matsunaga, Hiroshi Shimizu, Yasuhiro Kawachi, Naoko Ohyama, Osamu Ishikawa, Tomoyuki Ishikawa, Hiroshi Terao, Yasushi Tomita. J Invest Dermatol 2003
24
16

Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan.
Katsuhiko Inagaki, Tamio Suzuki, Hiroshi Shimizu, Norihisa Ishii, Yoshinori Umezawa, Joji Tada, Noriaki Kikuchi, Minoru Takata, Kenji Takamori, Mari Kishibe,[...]. Am J Hum Genet 2004
88
16

Oculocutaneous albinism type 1: the last 100 years.
William S Oetting, James P Fryer, Sabitha Shriram, Richard A King. Pigment Cell Res 2003
76
16

UBE3A regulates MC1R expression: a link to hypopigmentation in Angelman syndrome.
Daren Low, Ken-Shiung Chen. Pigment Cell Melanoma Res 2011
10
30

Diverse mutations of the P gene among African-Americans with type II (tyrosinase-positive) oculocutaneous albinism (OCA2).
S T Lee, R D Nicholls, R E Schnur, L C Guida, J Lu-Kuo, N B Spinner, E H Zackai, R A Spritz. Hum Mol Genet 1994
46
11



Novel mutations of the P gene in type II oculocutaneous albinism (OCA2).
R A Spritz, S T Lee, K Fukai, K Brondum-Nielsen, D Chitayat, M H Lipson, M A Musarella, A Rosenmann, R G Weleber. Hum Mutat 1997
26
11

Normal tyrosine transport and abnormal tyrosinase routing in pink-eyed dilution melanocytes.
S B Potterf, M Furumura, E V Sviderskaya, C Santis, D C Bennett, V J Hearing. Exp Cell Res 1998
40
11


Co-cited is the co-citation frequency, indicating how many articles cite the article together with the query article. Similarity is the co-citation as percentage of the times cited of the query article or the article in the search results, whichever is the lowest. These numbers are calculated for the last 100 citations when articles are cited more than 100 times.