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Items: 1 to 20 of 107

1.
3.

Human piebaldism: six novel mutations of the proto-oncogene KIT.

Syrris P, Heathcote K, Carrozzo R, Devriendt K, El├žioglu N, Garrett C, McEntagart M, Carter ND.

Hum Mutat. 2002 Sep;20(3):234.

PMID:
12204004
4.

[A novel KIT gene mutation from a family with piebaldism in the southern part of China].

Deng WP, Huang YS, Lu C, Lan W, Zhu GX, Lin QD, Feng PY.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2005 Dec;22(6):668-70. Chinese.

PMID:
16331568
5.

A novel KIT mutation results in piebaldism with progressive depigmentation.

Richards KA, Fukai K, Oiso N, Paller AS.

J Am Acad Dermatol. 2001 Feb;44(2):288-92.

PMID:
11174389
6.
8.

Molecular characterization of piebaldism in a Tunisian family.

Kerkeni E, Boubaker S, Sfar S, Bizid M, Besbes H, Bouaziz S, Ghedira N, Amara A, Manoubi W, Gribaa M, Monastiri K.

Pathol Biol (Paris). 2015 Jun;63(3):113-6. doi: 10.1016/j.patbio.2015.03.004. Epub 2015 Apr 21.

PMID:
25910686
9.

A novel KIT missense mutation in one Chinese family with piebaldism.

Yin XY, Ren YQ, Yang S, Xu SX, Zhou FS, Du WH, Lin D, Wang PG, Zhang SM, Zhang XJ.

Arch Dermatol Res. 2009 Jun;301(5):387-9. doi: 10.1007/s00403-009-0955-5. Epub 2009 May 9.

PMID:
19430803
10.

Mice transgenic for Kit(V620A): recapitulation of piebaldism but not progressive depigmentation seen in humans with this mutation.

Tosaki H, Kunisada T, Motohashi T, Aoki H, Yoshida H, Kitajima Y.

J Invest Dermatol. 2006 May;126(5):1111-8.

11.

A novel mutation of the KIT gene in a Chinese family with piebaldism.

Wen GD, Zhou C, Yu C, DU J, Xu QX, Liu ZY, Zhang JZ.

Chin Med J (Engl). 2013 Jun;126(12):2325-8.

12.

Mutations in the ligand-binding domain of the kit receptor: an uncommon site in human piebaldism.

Fleischman RA, Gallardo T, Mi X.

J Invest Dermatol. 1996 Nov;107(5):703-6.

13.

Piebaldism with deafness: molecular evidence for an expanded syndrome.

Spritz RA, Beighton P.

Am J Med Genet. 1998 Jan 6;75(1):101-3.

PMID:
9450866
15.

W mutant mice with mild or severe developmental defects contain distinct point mutations in the kinase domain of the c-kit receptor.

Reith AD, Rottapel R, Giddens E, Brady C, Forrester L, Bernstein A.

Genes Dev. 1990 Mar;4(3):390-400.

16.

New KIT mutations in patients with piebaldism.

Murakami T, Fukai K, Oiso N, Hosomi N, Kato A, Garganta C, Barnicoat A, Poppelaars F, Aquaron R, Paller AS, Ishii M.

J Dermatol Sci. 2004 Jun;35(1):29-33.

PMID:
15194144
17.

Mutation of the KIT (mast/stem cell growth factor receptor) protooncogene in human piebaldism.

Giebel LB, Spritz RA.

Proc Natl Acad Sci U S A. 1991 Oct 1;88(19):8696-9.

18.

[A novel KIT gene mutation results in piebaldism].

Deng WP, Lu C, Zhu GX, Lin QD, Feng PY.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2005 Oct;22(5):545-7. Chinese.

PMID:
16220461
19.

A novel mutation in the kinase domain of KIT in an Indian family with a mild piebaldism phenotype.

Chong KL, Common JE, Lane EB, Goh BK.

J Dermatol Sci. 2010 Sep;59(3):206-9. doi: 10.1016/j.jdermsci.2010.06.009. Epub 2010 Jul 8. No abstract available.

PMID:
20688482
20.

Novel mutations and deletions of the KIT (steel factor receptor) gene in human piebaldism.

Ezoe K, Holmes SA, Ho L, Bennett CP, Bolognia JL, Brueton L, Burn J, Falabella R, Gatto EM, Ishii N, et al.

Am J Hum Genet. 1995 Jan;56(1):58-66.

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