Oculocutaneous albinism type I (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "Oculocutaneous albinism type I" in English language version.

refsWebsite

Global rank English rank

15nih.gov

4^th place

7doi.org

2^nd place

2omim.org

4,380^th place

4,305^th place

2worldcat.org

5^th place

2semanticscholar.org

11^th place

8^th place

1atlasgeneticsoncology.org

low place

1medlineplus.gov

1,581^st place

1,299^th place

1harvard.edu

18^th place

17^th place

1wiley.com

222^nd place

297^th place

1arizona.edu

1,592^nd place

1,119^th place

arizona.edu

disorders.eyes.arizona.edu

"Albinism, Oculocutaneous, Type I | Hereditary Ocular Diseases". disorders.eyes.arizona.edu. Retrieved 2021-04-26.

atlasgeneticsoncology.org

"Oculocutaneous Albinism". atlasgeneticsoncology.org. Retrieved 2021-04-26.

doi.org

Hutton, Saunie M.; Spritz, Richard A. (October 2008). "Comprehensive Analysis of Oculocutaneous Albinism among Non-Hispanic Caucasians Shows that OCA1 Is the Most Prevalent OCA Type". Journal of Investigative Dermatology. 128 (10): 2442–2450. doi:10.1038/jid.2008.109. PMC 3515683. PMID 18463683.
Grønskov, K.; Ek, J.; Brondum-Nielsen, K. (2007). "Oculocutaneous albinism". Orphanet Journal of Rare Diseases. 2. National Center for Biotechnology Information: 43. doi:10.1186/1750-1172-2-43. PMC 2211462. PMID 17980020.
Ghodsinejad Kalahroudi V, Kamalidehghan B, Arasteh Kani A, Aryani O, Tondar M, Ahmadipour F, et al. (2014-09-12). "Two novel tyrosinase (TYR) gene mutations with pathogenic impact on oculocutaneous albinism type 1 (OCA1)". PLOS ONE. 9 (9): e106656. Bibcode:2014PLoSO...9j6656G. doi:10.1371/journal.pone.0106656. PMC 4162572. PMID 25216246.
Yang, Qi; Yi, Sheng; Li, Mengting; Xie, Bobo; Luo, Jinsi; Wang, Jin; Rong, Xiuliang; Zhang, Qinle; Qin, Zailong; Hang, Limei; Feng, Shihan (2019-06-13). "Genetic analyses of oculocutaneous albinism types 1 and 2 with four novel mutations". BMC Medical Genetics. 20 (1): 106. doi:10.1186/s12881-019-0842-7. ISSN 1471-2350. PMC 6567650. PMID 31196117.
Rooryck, Caroline; Morice-Picard, Fanny; Elçioglu, Nursel H.; Lacombe, Didier; Taieb, Alain; Arveiler, Benoît (October 2008). "Molecular diagnosis of oculocutaneous albinism: new mutations in the OCA1-4 genes and practical aspects: Letter to the Editor". Pigment Cell & Melanoma Research. 21 (5): 583–587. doi:10.1111/j.1755-148X.2008.00496.x. PMID 18821858. S2CID 11728943.
Rosenmann E, Rosenmann A, Ne'eman Z, Lewin A, Bejarano-Achache I, Blumenfeld A (September 1999). "Prenatal diagnosis of oculocutaneous albinism type I: review and personal experience". Pediatric and Developmental Pathology. 2 (5): 404–14. doi:10.1007/s100249900143. PMID 10441617. S2CID 23369377.
Marçon, Carolina Reato; Maia, Marcus (2019). "Albinism: epidemiology, genetics, cutaneous characterization, psychosocial factors". Anais Brasileiros de Dermatologia. 94 (5): 503–520. doi:10.1016/j.abd.2019.09.023. ISSN 0365-0596. PMC 6857599. PMID 31777350.

harvard.edu

ui.adsabs.harvard.edu

Ghodsinejad Kalahroudi V, Kamalidehghan B, Arasteh Kani A, Aryani O, Tondar M, Ahmadipour F, et al. (2014-09-12). "Two novel tyrosinase (TYR) gene mutations with pathogenic impact on oculocutaneous albinism type 1 (OCA1)". PLOS ONE. 9 (9): e106656. Bibcode:2014PLoSO...9j6656G. doi:10.1371/journal.pone.0106656. PMC 4162572. PMID 25216246.

medlineplus.gov

"TYR gene: MedlinePlus Genetics". medlineplus.gov. Retrieved 2021-04-26.

nih.gov

pubmed.ncbi.nlm.nih.gov

Lewis RA (1993). "Oculocutaneous Albinism Type 1 – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY". In Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Mirzaa G, Amemiya A, Lewis RA (eds.). GeneReviews. Seattle (WA): University of Washington, Seattle. PMID 20301345.
Hutton, Saunie M.; Spritz, Richard A. (October 2008). "Comprehensive Analysis of Oculocutaneous Albinism among Non-Hispanic Caucasians Shows that OCA1 Is the Most Prevalent OCA Type". Journal of Investigative Dermatology. 128 (10): 2442–2450. doi:10.1038/jid.2008.109. PMC 3515683. PMID 18463683.
Grønskov, K.; Ek, J.; Brondum-Nielsen, K. (2007). "Oculocutaneous albinism". Orphanet Journal of Rare Diseases. 2. National Center for Biotechnology Information: 43. doi:10.1186/1750-1172-2-43. PMC 2211462. PMID 17980020.
Ghodsinejad Kalahroudi V, Kamalidehghan B, Arasteh Kani A, Aryani O, Tondar M, Ahmadipour F, et al. (2014-09-12). "Two novel tyrosinase (TYR) gene mutations with pathogenic impact on oculocutaneous albinism type 1 (OCA1)". PLOS ONE. 9 (9): e106656. Bibcode:2014PLoSO...9j6656G. doi:10.1371/journal.pone.0106656. PMC 4162572. PMID 25216246.
Yang, Qi; Yi, Sheng; Li, Mengting; Xie, Bobo; Luo, Jinsi; Wang, Jin; Rong, Xiuliang; Zhang, Qinle; Qin, Zailong; Hang, Limei; Feng, Shihan (2019-06-13). "Genetic analyses of oculocutaneous albinism types 1 and 2 with four novel mutations". BMC Medical Genetics. 20 (1): 106. doi:10.1186/s12881-019-0842-7. ISSN 1471-2350. PMC 6567650. PMID 31196117.
Rooryck, Caroline; Morice-Picard, Fanny; Elçioglu, Nursel H.; Lacombe, Didier; Taieb, Alain; Arveiler, Benoît (October 2008). "Molecular diagnosis of oculocutaneous albinism: new mutations in the OCA1-4 genes and practical aspects: Letter to the Editor". Pigment Cell & Melanoma Research. 21 (5): 583–587. doi:10.1111/j.1755-148X.2008.00496.x. PMID 18821858. S2CID 11728943.
Rosenmann E, Rosenmann A, Ne'eman Z, Lewin A, Bejarano-Achache I, Blumenfeld A (September 1999). "Prenatal diagnosis of oculocutaneous albinism type I: review and personal experience". Pediatric and Developmental Pathology. 2 (5): 404–14. doi:10.1007/s100249900143. PMID 10441617. S2CID 23369377.
Marçon, Carolina Reato; Maia, Marcus (2019). "Albinism: epidemiology, genetics, cutaneous characterization, psychosocial factors". Anais Brasileiros de Dermatologia. 94 (5): 503–520. doi:10.1016/j.abd.2019.09.023. ISSN 0365-0596. PMC 6857599. PMID 31777350.

ncbi.nlm.nih.gov

Lewis RA (1993). "Oculocutaneous Albinism Type 1 – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY". In Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Mirzaa G, Amemiya A, Lewis RA (eds.). GeneReviews. Seattle (WA): University of Washington, Seattle. PMID 20301345.
Hutton, Saunie M.; Spritz, Richard A. (October 2008). "Comprehensive Analysis of Oculocutaneous Albinism among Non-Hispanic Caucasians Shows that OCA1 Is the Most Prevalent OCA Type". Journal of Investigative Dermatology. 128 (10): 2442–2450. doi:10.1038/jid.2008.109. PMC 3515683. PMID 18463683.
Grønskov, K.; Ek, J.; Brondum-Nielsen, K. (2007). "Oculocutaneous albinism". Orphanet Journal of Rare Diseases. 2. National Center for Biotechnology Information: 43. doi:10.1186/1750-1172-2-43. PMC 2211462. PMID 17980020.
Ghodsinejad Kalahroudi V, Kamalidehghan B, Arasteh Kani A, Aryani O, Tondar M, Ahmadipour F, et al. (2014-09-12). "Two novel tyrosinase (TYR) gene mutations with pathogenic impact on oculocutaneous albinism type 1 (OCA1)". PLOS ONE. 9 (9): e106656. Bibcode:2014PLoSO...9j6656G. doi:10.1371/journal.pone.0106656. PMC 4162572. PMID 25216246.
Yang, Qi; Yi, Sheng; Li, Mengting; Xie, Bobo; Luo, Jinsi; Wang, Jin; Rong, Xiuliang; Zhang, Qinle; Qin, Zailong; Hang, Limei; Feng, Shihan (2019-06-13). "Genetic analyses of oculocutaneous albinism types 1 and 2 with four novel mutations". BMC Medical Genetics. 20 (1): 106. doi:10.1186/s12881-019-0842-7. ISSN 1471-2350. PMC 6567650. PMID 31196117.
Marçon, Carolina Reato; Maia, Marcus (2019). "Albinism: epidemiology, genetics, cutaneous characterization, psychosocial factors". Anais Brasileiros de Dermatologia. 94 (5): 503–520. doi:10.1016/j.abd.2019.09.023. ISSN 0365-0596. PMC 6857599. PMID 31777350.

rarediseases.info.nih.gov

"Oculocutaneous albinism | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2021-04-26.

omim.org

Online Mendelian Inheritance in Man (OMIM): 203100
"OMIM Entry - * 606933 - TYROSINASE; TYR". www.omim.org. Retrieved 2021-04-26.

semanticscholar.org

api.semanticscholar.org

Rooryck, Caroline; Morice-Picard, Fanny; Elçioglu, Nursel H.; Lacombe, Didier; Taieb, Alain; Arveiler, Benoît (October 2008). "Molecular diagnosis of oculocutaneous albinism: new mutations in the OCA1-4 genes and practical aspects: Letter to the Editor". Pigment Cell & Melanoma Research. 21 (5): 583–587. doi:10.1111/j.1755-148X.2008.00496.x. PMID 18821858. S2CID 11728943.
Rosenmann E, Rosenmann A, Ne'eman Z, Lewin A, Bejarano-Achache I, Blumenfeld A (September 1999). "Prenatal diagnosis of oculocutaneous albinism type I: review and personal experience". Pediatric and Developmental Pathology. 2 (5): 404–14. doi:10.1007/s100249900143. PMID 10441617. S2CID 23369377.

wiley.com

doi.wiley.com

Rooryck, Caroline; Morice-Picard, Fanny; Elçioglu, Nursel H.; Lacombe, Didier; Taieb, Alain; Arveiler, Benoît (October 2008). "Molecular diagnosis of oculocutaneous albinism: new mutations in the OCA1-4 genes and practical aspects: Letter to the Editor". Pigment Cell & Melanoma Research. 21 (5): 583–587. doi:10.1111/j.1755-148X.2008.00496.x. PMID 18821858. S2CID 11728943.

worldcat.org

search.worldcat.org

Yang, Qi; Yi, Sheng; Li, Mengting; Xie, Bobo; Luo, Jinsi; Wang, Jin; Rong, Xiuliang; Zhang, Qinle; Qin, Zailong; Hang, Limei; Feng, Shihan (2019-06-13). "Genetic analyses of oculocutaneous albinism types 1 and 2 with four novel mutations". BMC Medical Genetics. 20 (1): 106. doi:10.1186/s12881-019-0842-7. ISSN 1471-2350. PMC 6567650. PMID 31196117.
Marçon, Carolina Reato; Maia, Marcus (2019). "Albinism: epidemiology, genetics, cutaneous characterization, psychosocial factors". Anais Brasileiros de Dermatologia. 94 (5): 503–520. doi:10.1016/j.abd.2019.09.023. ISSN 0365-0596. PMC 6857599. PMID 31777350.