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Items: 1 to 20 of 131

1.

Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene.

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

Nature. 1992 Feb 13;355(6361):635-6.

PMID:
1347148
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.

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.

4.

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
5.

An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome.

Baldwin CT, Hoth CF, Amos JA, da-Silva EO, Milunsky A.

Nature. 1992 Feb 13;355(6361):637-8.

PMID:
1347149
6.

Molecular basis of splotch and Waardenburg Pax-3 mutations.

Chalepakis G, Goulding M, Read A, Strachan T, Gruss P.

Proc Natl Acad Sci U S A. 1994 Apr 26;91(9):3685-9.

7.

Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9.

Stapleton P, Weith A, Urbánek P, Kozmik Z, Busslinger M.

Nat Genet. 1993 Apr;3(4):292-8.

PMID:
7981748
8.

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
9.
10.

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
11.

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
12.
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.

A splice junction mutation in PAX3 causes Waardenburg syndrome in a South African family.

Butt J, Greenberg J, Winship I, Sellars S, Beighton P, Ramesar R.

Hum Mol Genet. 1994 Jan;3(1):197-8. No abstract available.

PMID:
8162027
16.

Pax and vertebrate development.

Wehr R, Gruss P.

Int J Dev Biol. 1996 Feb;40(1):369-77. Review.

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.

A plus-one frameshift mutation in PAX3 alters the entire deduced amino acid sequence of the paired box in a Waardenburg syndrome type 1 (WS1) family.

Morell R, Friedman TB, Asher JH Jr.

Hum Mol Genet. 1993 Sep;2(9):1487-8. No abstract available.

PMID:
7902163
19.

A frameshift mutation in the gene for PAX3 in a girl with spina bifida and mild signs of Waardenburg syndrome.

Hol FA, Hamel BC, Geurds MP, Mullaart RA, Barr FG, Macina RA, Mariman EC.

J Med Genet. 1995 Jan;32(1):52-6.

20.

Pax genes and neural tube defects in the mouse.

Goulding M, Paquette A.

Ciba Found Symp. 1994;181:103-13; discussion 113-7. Review.

PMID:
7911756
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