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There are 24725 results for: content related to: Oculocutaneous albinism type IV: A boy of Moroccan descent with a novel mutation in SLC45A2

  1. 22nd Meeting of the Japanese Society for Pigment Cell Research

    Pigment Cell & Melanoma Research

    Volume 22, Issue 6, December 2009, Pages: 907–917,

    Version of Record online : 14 OCT 2009, DOI: 10.1111/j.1755-148X.2009.00638.x

  2. Oculocutaneous albinism type 4: six novel mutations in the membrane-associated transporter protein gene and their phenotypes

    Pigment Cell Research

    Volume 19, Issue 5, October 2006, Pages: 451–453, Katsuhiko Inagaki, Tamio Suzuki, Shiro Ito, Noriyuki Suzuki, Koji Adachi, Torayuki Okuyama, Yusei Nakata, Hiroshi Shimizu, Hironori Matsuura, Takashi Oono, Hiroko Iwamatsu, Michihiro Kono and Yasushi Tomita

    Version of Record online : 24 JUL 2006, DOI: 10.1111/j.1600-0749.2006.00332.x

  3. High-resolution array-CGH in patients with oculocutaneous albinism identifies new deletions of the TYR, OCA2, and SLC45A2 genes and a complex rearrangement of the OCA2 gene

    Pigment Cell & Melanoma Research

    Volume 27, Issue 1, January 2014, Pages: 59–71, Fanny Morice-Picard, Eulalie Lasseaux, Dorothée Cailley, Audrey Gros, Jérome Toutain, Claudio Plaisant, Delphine Simon, Stéphane François, Brigitte Gilbert-Dussardier, Josseline Kaplan, Caroline Rooryck, Didier Lacombe and Benoit Arveiler

    Version of Record online : 23 OCT 2013, DOI: 10.1111/pcmr.12173

  4. DNA Variations in Oculocutaneous Albinism: An Updated Mutation List and Current Outstanding Issues in Molecular Diagnostics

    Human Mutation

    Volume 34, Issue 6, June 2013, Pages: 827–835, Dimitre R. Simeonov, Xinjing Wang, Chen Wang, Yuri Sergeev, Monika Dolinska, Matthew Bower, Roxanne Fischer, David Winer, Genia Dubrovsky, Joan Z. Balog, Marjan Huizing, Rachel Hart, Wadih M. Zein, William A. Gahl, Brian P. Brooks and David R. Adams

    Version of Record online : 30 APR 2013, DOI: 10.1002/humu.22315

  5. Mutational spectrum of the TYR and SLC45A2 genes in Pakistani families with oculocutaneous albinism, and potential founder effect of missense substitution (p.Arg77Gln) of tyrosinase

    Clinical and Experimental Dermatology

    Volume 40, Issue 7, October 2015, Pages: 774–780, S. A. Shah, N. Raheem, S. Daud, J. Mubeen, A. A. Shaikh, A. H. Baloch, A. Nadeem, M. Tayyab, M. E. Babar and J. Ahmad

    Version of Record online : 22 FEB 2015, DOI: 10.1111/ced.12612

  6. Comprehensive analysis of the molecular basis of oculocutaneous albinism in Indian patients lacking a mutation in the tyrosinase gene

    British Journal of Dermatology

    Volume 163, Issue 3, September 2010, Pages: 487–494, M. Sengupta, M. Mondal, P. Jaiswal, S. Sinha, M. Chaki, S. Samanta and K. Ray

    Version of Record online : 26 APR 2010, DOI: 10.1111/j.1365-2133.2010.09830.x

  7. Diversity of human hair pigmentation as studied by chemical analysis of eumelanin and pheomelanin

    Journal of the European Academy of Dermatology and Venereology

    Volume 25, Issue 12, December 2011, Pages: 1369–1380, S. Ito and K. Wakamatsu

    Version of Record online : 14 NOV 2011, DOI: 10.1111/j.1468-3083.2011.04278.x

  8. You have free access to this content
    Signatures of Positive Selection in Genes Associated with Human Skin Pigmentation as Revealed from Analyses of Single Nucleotide Polymorphisms

    Annals of Human Genetics

    Volume 71, Issue 3, May 2007, Pages: 354–369, O. Lao, J. M. de Gruijter, K. van Duijn, A. Navarro and M. Kayser

    Version of Record online : 18 JAN 2007, DOI: 10.1111/j.1469-1809.2006.00341.x

  9. You have free access to this content
    Albinism in Europe

    The Journal of Dermatology

    Volume 40, Issue 5, May 2013, Pages: 319–324, Mónica Mártinez-García and Lluís Montoliu

    Version of Record online : 14 MAY 2013, DOI: 10.1111/1346-8138.12170

  10. Functional analysis of OCA4 mutant sequences using under white mouse melanocytes

    Pigment Cell & Melanoma Research

    Volume 22, Issue 2, April 2009, Pages: 235–237, Takayuki Konno, Yuko Abe, Masakazu Kawaguchi, Taisuke Kondo, Yasushi Tomita and Tamio Suzuki

    Version of Record online : 12 FEB 2009, DOI: 10.1111/j.1755-148X.2009.00549.x

  11. A single base deletion in the SLC45A2 gene in a Bullmastiff with oculocutaneous albinism

    Animal Genetics

    Volume 48, Issue 5, October 2017, Pages: 619–621, M. Caduff, A. Bauer, V. Jagannathan and T. Leeb

    Version of Record online : 24 JUL 2017, DOI: 10.1111/age.12582

  12. Variants of the MATP/SLC45A2 gene are protective for melanoma in the French population

    Human Mutation

    Volume 29, Issue 9, September 2008, Pages: 1154–1160, Mickaël Guedj, Agnès Bourillon, Christophe Combadières, Mathieu Rodero, Philippe Dieudé, Vincent Descamps, Nicolas Dupin, Pierre Wolkenstein, Philippe Aegerter, Céleste Lebbe, Nicole Basset-Seguin, Bernard Prum, Philippe Saiag, Bernard Grandchamp and Nadem Soufir

    Version of Record online : 6 AUG 2008, DOI: 10.1002/humu.20823

  13. Slc45a2 and V-ATPase are regulators of melanosomal pH homeostasis in zebrafish, providing a mechanism for human pigment evolution and disease

    Pigment Cell & Melanoma Research

    Volume 26, Issue 2, March 2013, Pages: 205–217, Christopher M. Dooley, Heinz Schwarz, Kaspar P. Mueller, Alessandro Mongera, Martina Konantz, Stephan C. F. Neuhauss, Christiane Nüsslein-Volhard and Robert Geisler

    Version of Record online : 20 DEC 2012, DOI: 10.1111/pcmr.12053

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    TRANSPORTERS

    British Journal of Pharmacology

    Volume 164, Issue s1, November 2011, Pages: S213–S278, SPH Alexander, A Mathie and JA Peters

    Version of Record online : 1 NOV 2011, DOI: 10.1111/j.1476-5381.2011.01649_8.x

  15. SLC45A2: a novel malignant melanoma-associated gene

    Human Mutation

    Volume 29, Issue 9, September 2008, Pages: 1161–1167, L.P. Fernandez, R.L. Milne, G. Pita, J.A. Avilés, P. Lázaro, J. Benítez and G. Ribas

    Version of Record online : 18 JUN 2008, DOI: 10.1002/humu.20804

  16. Incidental finding of alpha-methylacyl-CoA racemase deficiency in a patient with oculocutaneous albinism type 4

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 11, November 2012, Pages: 2931–2934, Judith M.A. Verhagen, Jan G. Huijmans, Monique Williams, Rutger L.J. van Ruyven, Arthur A.B. Bergen, Cokkie H. Wouters and Alice S. Brooks

    Version of Record online : 17 SEP 2012, DOI: 10.1002/ajmg.a.35611

  17. XXIst International Pigment Cell Conference (IPCC)

    Pigment Cell & Melanoma Research

    Volume 24, Issue 4, August 2011, Pages: 742–863,

    Version of Record online : 18 AUG 2011, DOI: 10.1111/j.1755-148X.2011.00885.x

  18. You have free access to this content
    Molecular diagnosis of oculocutaneous albinism: new mutations in the OCA1–4 genes and practical aspects

    Pigment Cell & Melanoma Research

    Volume 21, Issue 5, October 2008, Pages: 583–587, Caroline Rooryck, Fanny Morice-Picard, Nursel H. Elçioglu, Didier Lacombe, Alain Taieb and Benoît Arveiler

    Version of Record online : 18 SEP 2008, DOI: 10.1111/j.1755-148X.2008.00496.x

  19. Mutational Analysis on Membrane Associated Transporter Protein (MATP) and Their Structural Consequences in Oculocutaeous Albinism Type 4 (OCA4)—A Molecular Dynamics Approach

    Journal of Cellular Biochemistry

    Volume 117, Issue 11, November 2016, Pages: 2608–2619, Balu Kamaraj and Rituraj Purohit

    Version of Record online : 8 AUG 2016, DOI: 10.1002/jcb.25555

  20. A case of oculocutaneous albinism type 4: aberrant expression of SLC45A2 transcript with exon skipping

    The Journal of Dermatology

    Volume 41, Issue 11, November 2014, Pages: 1019–1021, Tokimasa Hida, Masae Okura, Toju Tanaka and Toshiharu Yamashita

    Version of Record online : 9 OCT 2014, DOI: 10.1111/1346-8138.12652