Oculocutaneous albinism (English Wikipedia)

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

refsWebsite

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9omim.org

4,380^th place

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8nih.gov

4^th place

5doi.org

2^nd place

3web.archive.org

1^st place

2semanticscholar.org

11^th place

8^th place

2emedicine.com

3,595^th place

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1orpha.net

3,537^th place

7,177^th place

1figshare.com

5,893^rd place

3,320^th place

1worldcat.org

5^th place

1umn.edu

1,266^th place

860^th place

doi.org

Grønskov K, Ek J, Brondum-Nielsen K (2007). "Oculocutaneous albinism". Orphanet Journal of Rare Diseases. 2. Article 43. doi:10.1186/1750-1172-2-43. PMC 2211462. PMID 17980020.
Mendez, Rodrigo; Iqbal, Sumaiya; Vishnopolska, Sebastián; Martinez, Cinthia; Dibner, Glenda; Aliano, Rocio; Zaiat, Jonathan; Biagioli, Germán; Fernandez, Cecilia; Turjanski, Adrian; Campbell, Arthur J.; Mercado, Graciela; Marti, Marcelo A. (18 February 2021). "Oculocutaneous albinism type 1B associated with a functionally significant tyrosinase gene polymorphism detected with Whole Exome Sequencing". Ophthalmic Genetics. 42 (3): 291–295. doi:10.1080/13816810.2021.1888129. ISSN 1381-6810. PMID 33599182. S2CID 231953047.
Giebel LB, Tripathi RK, King RA, Spritz RA (March 1991). "A tyrosinase gene missense mutation in temperature-sensitive type I oculocutaneous albinism. A human homologue to the Siamese cat and the Himalayan mouse". The Journal of Clinical Investigation. 87 (3): 1119–1122. doi:10.1172/JCI115075. PMC 329910. PMID 1900309.
Rundshagen U, Zühlke C, Opitz S, Schwinger E, Käsmann-Kellner B (February 2004). "Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4". Human Mutation. 23 (2): 106–110. doi:10.1002/humu.10311. PMID 14722913. S2CID 40612241.
Montoliu L, Grønskov K, Wei A, Martínez-García M, Fernández A, Arveiler B, Morice-Picard F, Riazuddin S, Suzuki T, Ahmed Z, Rosenberg T, Li W (January 2014). "Increasing the complexity: new genes and new types of albinism". Pigment Cell & Melanoma Research. 27 (1): 11–18. doi:10.1111/pcmr.12167. PMID 24066960.

emedicine.com

Peracha MO, Eliott D, Garcia-Valenzuela E (13 September 2005). Gordon K 3rd, Talavera F, Rowsey JJ, Brown LL, Roy H Sr (eds.). "Ocular Manifestations of Albinism". eMedicine. WebMD. Archived from the original on 9 June 2007. Retrieved 31 March 2007.
Boissy RE, Nordlund JJ (22 August 2005). Ortonne JP, Vinson RP, Perry V, Gelfand JM, James WD (eds.). "Albinism". eMedicine. WebMD. Archived from the original on 8 June 2007. Retrieved 31 March 2007.

figshare.com

Mendez, Rodrigo; Iqbal, Sumaiya; Vishnopolska, Sebastián; Martinez, Cinthia; Dibner, Glenda; Aliano, Rocio; Zaiat, Jonathan; Biagioli, Germán; Fernandez, Cecilia; Turjanski, Adrian; Campbell, Arthur J.; Mercado, Graciela; Marti, Marcelo A. (18 February 2021). "Oculocutaneous albinism type 1B associated with a functionally significant tyrosinase gene polymorphism detected with Whole Exome Sequencing". Ophthalmic Genetics. 42 (3): 291–295. doi:10.1080/13816810.2021.1888129. ISSN 1381-6810. PMID 33599182. S2CID 231953047.

nih.gov

pubmed.ncbi.nlm.nih.gov

Grønskov K, Ek J, Brondum-Nielsen K (2007). "Oculocutaneous albinism". Orphanet Journal of Rare Diseases. 2. Article 43. doi:10.1186/1750-1172-2-43. PMC 2211462. PMID 17980020.
Mendez, Rodrigo; Iqbal, Sumaiya; Vishnopolska, Sebastián; Martinez, Cinthia; Dibner, Glenda; Aliano, Rocio; Zaiat, Jonathan; Biagioli, Germán; Fernandez, Cecilia; Turjanski, Adrian; Campbell, Arthur J.; Mercado, Graciela; Marti, Marcelo A. (18 February 2021). "Oculocutaneous albinism type 1B associated with a functionally significant tyrosinase gene polymorphism detected with Whole Exome Sequencing". Ophthalmic Genetics. 42 (3): 291–295. doi:10.1080/13816810.2021.1888129. ISSN 1381-6810. PMID 33599182. S2CID 231953047.
Giebel LB, Tripathi RK, King RA, Spritz RA (March 1991). "A tyrosinase gene missense mutation in temperature-sensitive type I oculocutaneous albinism. A human homologue to the Siamese cat and the Himalayan mouse". The Journal of Clinical Investigation. 87 (3): 1119–1122. doi:10.1172/JCI115075. PMC 329910. PMID 1900309.
Rundshagen U, Zühlke C, Opitz S, Schwinger E, Käsmann-Kellner B (February 2004). "Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4". Human Mutation. 23 (2): 106–110. doi:10.1002/humu.10311. PMID 14722913. S2CID 40612241.
Montoliu L, Grønskov K, Wei A, Martínez-García M, Fernández A, Arveiler B, Morice-Picard F, Riazuddin S, Suzuki T, Ahmed Z, Rosenberg T, Li W (January 2014). "Increasing the complexity: new genes and new types of albinism". Pigment Cell & Melanoma Research. 27 (1): 11–18. doi:10.1111/pcmr.12167. PMID 24066960.

ncbi.nlm.nih.gov

Grønskov K, Ek J, Brondum-Nielsen K (2007). "Oculocutaneous albinism". Orphanet Journal of Rare Diseases. 2. Article 43. doi:10.1186/1750-1172-2-43. PMC 2211462. PMID 17980020.
Giebel LB, Tripathi RK, King RA, Spritz RA (March 1991). "A tyrosinase gene missense mutation in temperature-sensitive type I oculocutaneous albinism. A human homologue to the Siamese cat and the Himalayan mouse". The Journal of Clinical Investigation. 87 (3): 1119–1122. doi:10.1172/JCI115075. PMC 329910. PMID 1900309.

ghr.nlm.nih.gov

"Oculocutaneous albinism". Genetics Home Reference. U.S. National Library of Medicine. Retrieved 5 August 2020.

omim.org

"OMIM Entry - #615179 - ALBINISM, OCULOCUTANEOUS, TYPE VII; OCA7". Online Mendelian Inheritance in Man. Johns Hopkins University. Retrieved 16 June 2020.
"OMIM Entry - #203100 - ALBINISM, OCULOCUTANEOUS, TYPE IA; OCA1A". Mendelian Inheritance in Man. Johns Hopkins University. Retrieved 5 August 2020.
"OMIM Entry - #606952 - ALBINISM, OCULOCUTANEOUS, TYPE IB; OCA1B". Mendelian Inheritance in Man. Johns Hopkins University. Retrieved 5 August 2020.
"OMIM Entry - #203200 - ALBINISM, OCULOCUTANEOUS, TYPE II; OCA2". Mendelian Inheritance in Man. Johns Hopkins University. Retrieved 5 August 2020.
"OMIM Entry - #203290 - ALBINISM, OCULOCUTANEOUS, TYPE III; OCA3". Mendelian Inheritance in Man. Johns Hopkins University. Retrieved 5 August 2020.
"OMIM Entry - #606574 - ALBINISM, OCULOCUTANEOUS, TYPE IV; OCA4". Mendelian Inheritance in Man. Johns Hopkins University. Retrieved 5 August 2020.
"OMIM Entry - #615312 - ALBINISM, OCULOCUTANEOUS, TYPE V; OCA5". Mendelian Inheritance in Man. Johns Hopkins University. Retrieved 5 August 2020.
"OMIM Entry - #113750 - ALBINISM, OCULOCUTANEOUS, TYPE VI; OCA6". Mendelian Inheritance in Man. Johns Hopkins University. Retrieved 5 August 2020.
"OMIM Entry - #615179 - ALBINISM, OCULOCUTANEOUS, TYPE VII; OCA7". Mendelian Inheritance in Man. Johns Hopkins University. Retrieved 5 August 2020.

orpha.net

"Orphanet: Oculocutaneous albinism". Orphanet.

semanticscholar.org

api.semanticscholar.org

Mendez, Rodrigo; Iqbal, Sumaiya; Vishnopolska, Sebastián; Martinez, Cinthia; Dibner, Glenda; Aliano, Rocio; Zaiat, Jonathan; Biagioli, Germán; Fernandez, Cecilia; Turjanski, Adrian; Campbell, Arthur J.; Mercado, Graciela; Marti, Marcelo A. (18 February 2021). "Oculocutaneous albinism type 1B associated with a functionally significant tyrosinase gene polymorphism detected with Whole Exome Sequencing". Ophthalmic Genetics. 42 (3): 291–295. doi:10.1080/13816810.2021.1888129. ISSN 1381-6810. PMID 33599182. S2CID 231953047.
Rundshagen U, Zühlke C, Opitz S, Schwinger E, Käsmann-Kellner B (February 2004). "Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4". Human Mutation. 23 (2): 106–110. doi:10.1002/humu.10311. PMID 14722913. S2CID 40612241.

umn.edu

albinism.med.umn.edu

King RA, Summers G, Haefemeyer JW, LeRoy B (2009). "Facts about Albinism". Archived from the original on 15 February 2009.

web.archive.org

King RA, Summers G, Haefemeyer JW, LeRoy B (2009). "Facts about Albinism". Archived from the original on 15 February 2009.
Peracha MO, Eliott D, Garcia-Valenzuela E (13 September 2005). Gordon K 3rd, Talavera F, Rowsey JJ, Brown LL, Roy H Sr (eds.). "Ocular Manifestations of Albinism". eMedicine. WebMD. Archived from the original on 9 June 2007. Retrieved 31 March 2007.
Boissy RE, Nordlund JJ (22 August 2005). Ortonne JP, Vinson RP, Perry V, Gelfand JM, James WD (eds.). "Albinism". eMedicine. WebMD. Archived from the original on 8 June 2007. Retrieved 31 March 2007.

worldcat.org

search.worldcat.org

Mendez, Rodrigo; Iqbal, Sumaiya; Vishnopolska, Sebastián; Martinez, Cinthia; Dibner, Glenda; Aliano, Rocio; Zaiat, Jonathan; Biagioli, Germán; Fernandez, Cecilia; Turjanski, Adrian; Campbell, Arthur J.; Mercado, Graciela; Marti, Marcelo A. (18 February 2021). "Oculocutaneous albinism type 1B associated with a functionally significant tyrosinase gene polymorphism detected with Whole Exome Sequencing". Ophthalmic Genetics. 42 (3): 291–295. doi:10.1080/13816810.2021.1888129. ISSN 1381-6810. PMID 33599182. S2CID 231953047.