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Items: 1 to 20 of 114

1.

Deletion of the SLUG (SNAI2) gene results in human piebaldism.

Sánchez-Martín M, Pérez-Losada J, Rodríguez-García A, González-Sánchez B, Korf BR, Kuster W, Moss C, Spritz RA, Sánchez-García I.

Am J Med Genet A. 2003 Oct 1;122A(2):125-32.

PMID:
12955764
2.

Deletion of the c-kit protooncogene in the human developmental defect piebald trait.

Fleischman RA, Saltman DL, Stastny V, Zneimer S.

Proc Natl Acad Sci U S A. 1991 Dec 1;88(23):10885-9.

3.

SLUG (SNAI2) overexpression in embryonic development.

Pérez-Mancera PA, González-Herrero I, Maclean K, Turner AM, Yip MY, Sánchez-Martín M, García JL, Robledo C, Flores T, Gutiérrez-Adán A, Pintado B, Sánchez-García I.

Cytogenet Genome Res. 2006;114(1):24-9.

PMID:
16717446
4.

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.

5.

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.

6.

Deletion of the KIT and PDGFRA genes in a patient with piebaldism.

Spritz RA, Droetto S, Fukushima Y.

Am J Med Genet. 1992 Nov 1;44(4):492-5.

PMID:
1279971
7.

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
8.

SLUG (SNAI2) deletions in patients with Waardenburg disease.

Sánchez-Martín M, Rodríguez-García A, Pérez-Losada J, Sagrera A, Read AP, Sánchez-García I.

Hum Mol Genet. 2002 Dec 1;11(25):3231-6.

9.

A novel missense KIT mutation causing piebaldism in one Chinese family associated with café-au-lait macules and intertriginous freckling.

Jia WX, Xiao XM, Wu JB, Ma YP, Ge YP, Li Q, Mao QX, Li CR.

Ther Clin Risk Manag. 2015 Apr 21;11:635-8. doi: 10.2147/TCRM.S75544. eCollection 2015.

10.

Piebaldism.

Oiso N, Fukai K, Kawada A, Suzuki T.

J Dermatol. 2013 May;40(5):330-5. doi: 10.1111/j.1346-8138.2012.01583.x. Epub 2012 Jun 1. Review.

PMID:
22670867
12.

SNAI2 mutation causes human piebaldism.

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

Am J Med Genet A. 2014 Mar;164A(3):855-7. doi: 10.1002/ajmg.a.36332. Epub 2014 Jan 17. No abstract available.

PMID:
24443330
13.

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.

14.

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
15.

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.

16.

Molecular basis of human piebaldism.

Spritz RA.

J Invest Dermatol. 1994 Nov;103(5 Suppl):137S-140S. Review.

PMID:
7525736
17.

The molecular genetics of albinism and piebaldism.

Tomita Y.

Arch Dermatol. 1994 Mar;130(3):355-8. Review.

PMID:
8129415
18.

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.

19.

SLUG in cancer development.

Pérez-Mancera PA, González-Herrero I, Pérez-Caro M, Gutiérrez-Cianca N, Flores T, Gutiérrez-Adán A, Pintado B, Sánchez-Martín M, Sánchez-García I.

Oncogene. 2005 Apr 28;24(19):3073-82.

PMID:
15735690
20.

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.

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