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Items: 1 to 20 of 107

1.

Molecular characterization of two novel KIT mutations in patients with piebaldism.

Wasag B, Chmara M, Legius E.

J Dermatol Sci. 2012 Apr;66(1):78-9. doi: 10.1016/j.jdermsci.2011.12.010. Epub 2011 Dec 24. No abstract available.

PMID:
22264755
2.

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
3.

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
4.

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
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.

[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
7.

Three novel mutations of the proto-oncogene KIT cause human piebaldism.

Syrris P, Malik NM, Murday VA, Patton MA, Carter ND, Hughes HE, Metcalfe K.

Am J Med Genet. 2000 Nov 6;95(1):79-81. No abstract available.

PMID:
11074500
8.

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.

9.

Human piebaldism: relationship between phenotype and site of kit gene mutation.

Ward KA, Moss C, Sanders DS.

Br J Dermatol. 1995 Jun;132(6):929-35.

PMID:
7544995
11.

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
12.

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.

13.

Piebaldism and neurofibromatosis type 1: family report.

Duarte AF, Mota A, Baudrier T, Morais P, Santos A, Cerqueira R, Tavares P, Azevedo F.

Dermatol Online J. 2010 Jan 15;16(1):11.

14.

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.

Two children with a mild or moderate piebaldism phenotype and a father without leukoderma in a family with the same recurrent missense mutation in the kinase domain of KIT.

Narita T, Oiso N, Fukai K, Motokawa T, Hayashi M, Yokoyama K, Hozumi Y, Kawada A, Suzuki T.

Eur J Dermatol. 2011 May-Jun;21(3):446-7. doi: 10.1684/ejd.2011.1350. No abstract available.

PMID:
21680281
16.

New mutations of KIT gene in two Chinese patients with piebaldism.

Lin ZM, Xu Z, Bu DF, Yang Y.

Br J Dermatol. 2006 Dec;155(6):1303-4. No abstract available.

PMID:
17107413
17.

[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
18.

Mutations of the KIT (mast/stem cell growth factor receptor) proto-oncogene account for a continuous range of phenotypes in human piebaldism.

Spritz RA, Holmes SA, Ramesar R, Greenberg J, Curtis D, Beighton P.

Am J Hum Genet. 1992 Nov;51(5):1058-65. Erratum in: Am J Hum Genet 1993 Mar;52(3):654.

19.

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
20.

A novel splicing mutation of KIT results in piebaldism and auburn hair color in a Chinese family.

Yang YJ, Zhao R, He XY, Li LP, Wang KW, Zhao L, Tu M, Tang JS, Xie ZG, Zhu YM.

Biomed Res Int. 2013;2013:689756. doi: 10.1155/2013/689756. Epub 2013 Aug 13.

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