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Items: 1 to 20 of 29

1.

A Novel Pathogenic Variant in the MITF Gene Segregating with a Unique Spectrum of Ocular Findings in an Extended Iranian Waardenburg Syndrome Kindred.

Jalilian N, Tabatabaiefar MA, Bahrami T, Karbasi G, Bahramian MH, Salimpoor A, Noori-Daloii MR.

Mol Syndromol. 2017 Jun;8(4):195-200. doi: 10.1159/000476020. Epub 2017 May 30.

PMID:
28690485
2.

Functional analysis of a nonstop mutation in MITF gene identified in a patient with Waardenburg syndrome type 2.

Sun J, Hao Z, Luo H, He C, Mei L, Liu Y, Wang X, Niu Z, Chen H, Li JD, Feng Y.

J Hum Genet. 2017 Jul;62(7):703-709. doi: 10.1038/jhg.2017.30. Epub 2017 Mar 30.

3.

Clinical and genetic investigation of families with type II Waardenburg syndrome.

Chen Y, Yang F, Zheng H, Zhou J, Zhu G, Hu P, Wu W.

Mol Med Rep. 2016 Mar;13(3):1983-8. doi: 10.3892/mmr.2016.4774. Epub 2016 Jan 13.

4.

Understanding Melanocyte Stem Cells for Disease Modeling and Regenerative Medicine Applications.

Mull AN, Zolekar A, Wang YC.

Int J Mol Sci. 2015 Dec 21;16(12):30458-69. doi: 10.3390/ijms161226207. Review.

5.

Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2.

Zazo Seco C, Serrão de Castro L, van Nierop JW, Morín M, Jhangiani S, Verver EJ, Schraders M, Maiwald N, Wesdorp M, Venselaar H, Spruijt L, Oostrik J, Schoots J; Baylor-Hopkins Center for Mendelian Genomics, van Reeuwijk J, Lelieveld SH, Huygen PL, Insenser M, Admiraal RJ, Pennings RJ, Hoefsloot LH, Arias-Vásquez A, de Ligt J, Yntema HG, Jansen JH, Muzny DM, Huls G, van Rossum MM, Lupski JR, Moreno-Pelayo MA, Kunst HP, Kremer H.

Am J Hum Genet. 2015 Nov 5;97(5):647-60. doi: 10.1016/j.ajhg.2015.09.011. Epub 2015 Oct 29.

6.

Microphthalmia-associated transcription factor mutations are associated with white-spotted coat color in swamp buffalo.

Yusnizar Y, Wilbe M, Herlino AO, Sumantri C, Noor RR, Boediono A, Andersson L, Andersson G.

Anim Genet. 2015 Dec;46(6):676-82. doi: 10.1111/age.12334. Epub 2015 Sep 28.

7.

Evolutionary history inferred from the de novo assembly of a nonmodel organism, the blue-eyed black lemur.

Meyer WK, Venkat A, Kermany AR, van de Geijn B, Zhang S, Przeworski M.

Mol Ecol. 2015 Sep;24(17):4392-405. doi: 10.1111/mec.13327. Epub 2015 Aug 24.

8.

A simple repeat polymorphism in the MITF-M promoter is a key regulator of white spotting in dogs.

Baranowska Körberg I, Sundström E, Meadows JR, Rosengren Pielberg G, Gustafson U, Hedhammar Å, Karlsson EK, Seddon J, Söderberg A, Vilà C, Zhang X, Åkesson M, Lindblad-Toh K, Andersson G, Andersson L.

PLoS One. 2014 Aug 12;9(8):e104363. doi: 10.1371/journal.pone.0104363. eCollection 2014.

9.

Mutations of TYR and MITF Genes are Associated with Plumage Colour Phenotypes in Geese.

Wang Y, Li SM, Huang J, Chen SY, Liu YP.

Asian-Australas J Anim Sci. 2014 Jun;27(6):778-83. doi: 10.5713/ajas.2013.13350.

10.

MITF mutations associated with pigment deficiency syndromes and melanoma have different effects on protein function.

Grill C, Bergsteinsdóttir K, Ogmundsdóttir MH, Pogenberg V, Schepsky A, Wilmanns M, Pingault V, Steingrímsson E.

Hum Mol Genet. 2013 Nov 1;22(21):4357-67. doi: 10.1093/hmg/ddt285. Epub 2013 Jun 20.

11.

Differential evolution of duplicated medakafish mitf genes.

Li M, Zhu F, Hong Y.

Int J Biol Sci. 2013 May 24;9(5):496-508. doi: 10.7150/ijbs.4668. Print 2013.

12.

The convergent evolution of blue iris pigmentation in primates took distinct molecular paths.

Meyer WK, Zhang S, Hayakawa S, Imai H, Przeworski M.

Am J Phys Anthropol. 2013 Jul;151(3):398-407. doi: 10.1002/ajpa.22280. Epub 2013 May 2.

13.

Meckelin 3 is necessary for photoreceptor outer segment development in rat Meckel syndrome.

Tiwari S, Hudson S, Gattone VH 2nd, Miller C, Chernoff EA, Belecky-Adams TL.

PLoS One. 2013;8(3):e59306. doi: 10.1371/journal.pone.0059306. Epub 2013 Mar 13.

14.

Spectrum of novel mutations found in Waardenburg syndrome types 1 and 2: implications for molecular genetic diagnostics.

Wildhardt G, Zirn B, Graul-Neumann LM, Wechtenbruch J, Suckfüll M, Buske A, Bohring A, Kubisch C, Vogt S, Strobl-Wildemann G, Greally M, Bartsch O, Steinberger D.

BMJ Open. 2013 Mar 18;3(3). pii: e001917. doi: 10.1136/bmjopen-2012-001917.

15.

Piebaldism: A brief report and review of the literature.

Agarwal S, Ojha A.

Indian Dermatol Online J. 2012 May;3(2):144-7. doi: 10.4103/2229-5178.96722.

16.

Hearing dysfunction in heterozygous Mitf(Mi-wh) /+ mice, a model for Waardenburg syndrome type 2 and Tietz syndrome.

Ni C, Zhang D, Beyer LA, Halsey KE, Fukui H, Raphael Y, Dolan DF, Hornyak TJ.

Pigment Cell Melanoma Res. 2013 Jan;26(1):78-87. doi: 10.1111/pcmr.12030. Epub 2012 Nov 16.

17.

YY1 regulates melanocyte development and function by cooperating with MITF.

Li J, Song JS, Bell RJ, Tran TN, Haq R, Liu H, Love KT, Langer R, Anderson DG, Larue L, Fisher DE.

PLoS Genet. 2012;8(5):e1002688. doi: 10.1371/journal.pgen.1002688. Epub 2012 May 3.

18.

Mutations in MITF and PAX3 cause "splashed white" and other white spotting phenotypes in horses.

Hauswirth R, Haase B, Blatter M, Brooks SA, Burger D, Drögemüller C, Gerber V, Henke D, Janda J, Jude R, Magdesian KG, Matthews JM, Poncet PA, Svansson V, Tozaki T, Wilkinson-White L, Penedo MC, Rieder S, Leeb T.

PLoS Genet. 2012;8(4):e1002653. doi: 10.1371/journal.pgen.1002653. Epub 2012 Apr 12.

19.

Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes.

Léger S, Balguerie X, Goldenberg A, Drouin-Garraud V, Cabot A, Amstutz-Montadert I, Young P, Joly P, Bodereau V, Holder-Espinasse M, Jamieson RV, Krause A, Chen H, Baumann C, Nunes L, Dollfus H, Goossens M, Pingault V.

Eur J Hum Genet. 2012 May;20(5):584-7. doi: 10.1038/ejhg.2011.234. Epub 2012 Jan 18.

20.

A MITF mutation associated with a dominant white phenotype and bilateral deafness in German Fleckvieh cattle.

Philipp U, Lupp B, Mömke S, Stein V, Tipold A, Eule JC, Rehage J, Distl O.

PLoS One. 2011;6(12):e28857. doi: 10.1371/journal.pone.0028857. Epub 2011 Dec 12.

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