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Items: 1 to 20 of 182

1.

Effects of Pax3 modifier genes on craniofacial morphology, pigmentation, and viability: a murine model of Waardenburg syndrome variation.

Asher JH Jr, Harrison RW, Morell R, Carey ML, Friedman TB.

Genomics. 1996 Jun 15;34(3):285-98.

PMID:
8786127
2.

PAX3 gene structure and mutations: close analogies between Waardenburg syndrome and the Splotch mouse.

Tassabehji M, Newton VE, Leverton K, Turnbull K, Seemanova E, Kunze J, Sperling K, Strachan T, Read AP.

Hum Mol Genet. 1994 Jul;3(7):1069-74.

PMID:
7981674
3.

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
5.

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.

6.

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
7.

A spontaneous and novel Pax3 mutant mouse that models Waardenburg syndrome and neural tube defects.

Ohnishi T, Miura I, Ohba H, Shimamoto C, Iwayama Y, Wakana S, Yoshikawa T.

Gene. 2017 Apr 5;607:16-22. doi: 10.1016/j.gene.2016.12.037. Epub 2016 Dec 30.

PMID:
28043919
8.

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
9.

The incidence of deafness is non-randomly distributed among families segregating for Waardenburg syndrome type 1 (WS1).

Morell R, Friedman TB, Asher JH Jr, Robbins LG.

J Med Genet. 1997 Jun;34(6):447-52. Review.

10.

Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome.

Bondurand N, Pingault V, Goerich DE, Lemort N, Sock E, Le Caignec C, Wegner M, Goossens M.

Hum Mol Genet. 2000 Aug 12;9(13):1907-17.

PMID:
10942418
11.

Analysis of locus heterogeneity in Waardenburg syndrome types 1 and 2 using highly informative microsatellite markers.

Reynolds JE, Arnos KS, Landa B, Stevens CA, Salbert BA, Wright L, Duke B, Hunt W, Marazita ML, Ploughman L, et al.

Hum Hered. 1995 Sep-Oct;45(5):243-52.

PMID:
7590754
12.

Transcription factor hierarchy in Waardenburg syndrome: regulation of MITF expression by SOX10 and PAX3.

Potterf SB, Furumura M, Dunn KJ, Arnheiter H, Pavan WJ.

Hum Genet. 2000 Jul;107(1):1-6.

PMID:
10982026
13.

The mutational spectrum in Waardenburg syndrome.

Tassabehji M, Newton VE, Liu XZ, Brady A, Donnai D, Krajewska-Walasek M, Murday V, Norman A, Obersztyn E, Reardon W, et al.

Hum Mol Genet. 1995 Nov;4(11):2131-7.

PMID:
8589691
14.
15.

Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2.

Tassabehji M, Read AP, Newton VE, Patton M, Gruss P, Harris R, Strachan T.

Nat Genet. 1993 Jan;3(1):26-30.

PMID:
8490648
16.

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
17.

Two different PAX3 gene mutations causing Waardenburg syndrome type I.

Wildhardt G, Winterpacht A, Hilbert K, Menger H, Zabel B.

Mol Cell Probes. 1996 Jun;10(3):229-31.

PMID:
8799378
18.

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
19.

A PAX3 polymorphism (T315K) in a family exhibiting Waardenburg Syndrome type 2.

Wang C, Kim E, Attaie A, Smith TN, Wilcox ER, Lalwani AK.

Mol Cell Probes. 1998 Feb;12(1):55-7.

PMID:
9584079
20.

Epistatic relationship between Waardenburg syndrome genes MITF and PAX3.

Watanabe A, Takeda K, Ploplis B, Tachibana M.

Nat Genet. 1998 Mar;18(3):283-6.

PMID:
9500554

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