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Items: 1 to 20 of 152

1.

A novel missense mutation of the paired box 3 gene in a Turkish family with Waardenburg syndrome type 1.

Hazan F, Ozturk AT, Adibelli H, Unal N, Tukun A.

Mol Vis. 2013;19:196-202. Epub 2013 Jan 29.

2.

Molecular and clinical characterization of Waardenburg syndrome type I in an Iranian cohort with two novel PAX3 mutations.

Jalilian N, Tabatabaiefar MA, Farhadi M, Bahrami T, Emamdjomeh H, Noori-Daloii MR.

Gene. 2015 Dec 15;574(2):302-7. doi: 10.1016/j.gene.2015.08.023. Epub 2015 Aug 11.

PMID:
26275939
3.

PAX3 mutations and clinical characteristics in Chinese patients with Waardenburg syndrome type 1.

Wang J, Li S, Xiao X, Wang P, Guo X, Zhang Q.

Mol Vis. 2010 Jun 22;16:1146-53.

4.

A novel mutation in the PAX3 gene causes Waardenburg syndrome type I in an Iranian family.

Jalilian N, Tabatabaiefar MA, Farhadi M, Bahrami T, Noori-Daloii MR.

Int J Pediatr Otorhinolaryngol. 2015 Oct;79(10):1736-40. doi: 10.1016/j.ijporl.2015.07.039. Epub 2015 Aug 3.

PMID:
26279250
5.

A novel mutation of PAX3 in a Chinese family with Waardenburg syndrome.

Qin W, Shu A, Qian X, Gao J, Xing Q, Zhang J, Zheng Y, Li X, Li S, Feng G, He L.

Mol Vis. 2006 Aug 28;12:1001-8.

6.

Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome.

Wollnik B, Tukel T, Uyguner O, Ghanbari A, Kayserili H, Emiroglu M, Yuksel-Apak M.

Am J Med Genet A. 2003 Sep 15;122A(1):42-5.

PMID:
12949970
7.

Identification of a novel mutation in the paired domain of PAX3 in an Iranian family with waardenburg syndrome type I.

Sotirova VN, Rezaie TM, Khoshsorour MM, Sarfarazi M.

Ophthalmic Genet. 2000 Mar;21(1):25-8.

PMID:
10779847
8.

The value of MLPA in Waardenburg syndrome.

Milunsky JM, Maher TA, Ito M, Milunsky A.

Genet Test. 2007 Summer;11(2):179-82.

PMID:
17627390
9.

A novel mutation in PAX3 associated with Waardenburg syndrome type I in a Chinese family.

Xiao Y, Luo J, Zhang F, Li J, Han Y, Zhang D, Wang M, Ma Y, Xu L, Bai X, Wang H.

Acta Otolaryngol. 2016;136(5):439-45. doi: 10.3109/00016489.2015.1132846. Epub 2016 Jan 29.

PMID:
26824486
10.

Genetic analysis of PAX3 for diagnosis of Waardenburg syndrome type I.

Matsunaga T, Mutai H, Namba K, Morita N, Masuda S.

Acta Otolaryngol. 2013 Apr;133(4):345-51. doi: 10.3109/00016489.2012.744470. Epub 2012 Nov 20.

PMID:
23163891
12.

Nonsense mutations in the PAX3 gene cause Waardenburg syndrome type I in two Chinese patients.

Yang SZ, Cao JY, Zhang RN, Liu LX, Liu X, Zhang X, Kang DY, Li M, Han DY, Yuan HJ, Yang WY.

Chin Med J (Engl). 2007 Jan 5;120(1):46-9.

PMID:
17254487
13.

Identification and functional analysis of a novel mutation in the PAX3 gene associated with Waardenburg syndrome type I.

Niu Z, Li J, Tang F, Sun J, Wang X, Jiang L, Mei L, Chen H, Liu Y, Cai X, Feng Y, He C.

Gene. 2018 Feb 5;642:362-366. doi: 10.1016/j.gene.2017.11.035. Epub 2017 Nov 20.

PMID:
29158168
14.

Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I).

Hoth CF, Milunsky A, Lipsky N, Sheffer R, Clarren SK, Baldwin CT.

Am J Hum Genet. 1993 Mar;52(3):455-62.

15.

Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations.

DeStefano AL, Cupples LA, Arnos KS, Asher JH Jr, Baldwin CT, Blanton S, Carey ML, da Silva EO, Friedman TB, Greenberg J, Lalwani AK, Milunsky A, Nance WE, Pandya A, Ramesar RS, Read AP, Tassabejhi M, Wilcox ER, Farrer LA.

Hum Genet. 1998 May;102(5):499-506.

PMID:
9654197
16.

Septo-optic dysplasia and WS1 in the proband of a WS1 family segregating for a novel mutation in PAX3 exon 7.

Carey ML, Friedman TB, Asher JH Jr, Innis JW.

J Med Genet. 1998 Mar;35(3):248-50.

17.

Homozygosity for Waardenburg syndrome.

Zlotogora J, Lerer I, Bar-David S, Ergaz Z, Abeliovich D.

Am J Hum Genet. 1995 May;56(5):1173-8.

18.

Mutations in PAX3 associated with Waardenburg syndrome type I.

Baldwin CT, Lipsky NR, Hoth CF, Cohen T, Mamuya W, Milunsky A.

Hum Mutat. 1994;3(3):205-11.

PMID:
8019556
19.

Mutations in PAX3 that cause Waardenburg syndrome type I: ten new mutations and review of the literature.

Baldwin CT, Hoth CF, Macina RA, Milunsky A.

Am J Med Genet. 1995 Aug 28;58(2):115-22. Review.

PMID:
8533800
20.

Double heterozygous mutations of MITF and PAX3 result in Waardenburg syndrome with increased penetrance in pigmentary defects.

Yang T, Li X, Huang Q, Li L, Chai Y, Sun L, Wang X, Zhu Y, Wang Z, Huang Z, Li Y, Wu H.

Clin Genet. 2013 Jan;83(1):78-82. doi: 10.1111/j.1399-0004.2012.01853.x. Epub 2012 Mar 5.

PMID:
22320238

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