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Items: 1 to 20 of 122

1.
2.

Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene.

Tassabehji M, Newton VE, Read AP.

Nat Genet. 1994 Nov;8(3):251-5.

PMID:
7874167
3.

Discordant phenotype of two overlapping deletions involving the PAX3 gene in chromosome 2q35.

Pasteris NG, Trask BJ, Sheldon S, Gorski JL.

Hum Mol Genet. 1993 Jul;2(7):953-9.

PMID:
8103404
4.
6.

Point mutation in the MITF gene causing Waardenburg syndrome type II in a three-generation Indian family.

Lalwani AK, Attaie A, Randolph FT, Deshmukh D, Wang C, Mhatre A, Wilcox E.

Am J Med Genet. 1998 Dec 4;80(4):406-9.

PMID:
9856573
7.

A novel mutation in the MITF gene causes Waardenburg syndrome type 2.

Lautenschlager NT, Milunsky A, DeStefano A, Farrer L, Baldwin CT.

Genet Anal. 1996 Jul;13(2):43-4.

PMID:
8880147
8.

Localization of a gene for Waardenburg syndrome type I.

Read AP, Foy C, Newton V, Harris R.

Ann N Y Acad Sci. 1991;630:143-51. No abstract available.

PMID:
1952585
9.

Confirmation of the location of a Waardenburg syndrome type I mutation on human chromosome 2q. Tight linkage to FN1 and ALPP.

Asher JH Jr, Morell R, Friedman TB.

Ann N Y Acad Sci. 1991;630:295-7. No abstract available.

PMID:
1683205
10.

Second locus for Hirschsprung disease/Waardenburg syndrome in a large Mennonite kindred.

Dow E, Cross S, Wolgemuth DJ, Lyonnet S, Mulligan LM, Mascari M, Ladda R, Williamson R.

Am J Med Genet. 1994 Oct 15;53(1):75-80.

PMID:
7802041
11.

Molecular basis of mouse microphthalmia (mi) mutations helps explain their developmental and phenotypic consequences.

Steingrímsson E, Moore KJ, Lamoreux ML, Ferré-D'Amaré AR, Burley SK, Zimring DC, Skow LC, Hodgkinson CA, Arnheiter H, Copeland NG, et al.

Nat Genet. 1994 Nov;8(3):256-63.

PMID:
7874168
12.
13.

[Preliminary linkage analysis on autosomal dominant microphthalmia with 12 microsatellite markers].

Yu P, Zhou Q, Guo L, Zhou YM, Luo YY, Zhang RY, Yan XY, Ding KP, Hong ZF, Zhang YZ.

Shi Yan Sheng Wu Xue Bao. 2004 Apr;37(2):85-90. Chinese.

PMID:
15259979
14.

Waardenburg syndrome type II: phenotypic findings and diagnostic criteria.

Liu XZ, Newton VE, Read AP.

Am J Med Genet. 1995 Jan 2;55(1):95-100. Review.

PMID:
7702105
15.

Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF.

Smith SD, Kelley PM, Kenyon JB, Hoover D.

J Med Genet. 2000 Jun;37(6):446-8.

16.

Mutation of the MITF gene in albinism-deafness syndrome (Tietz syndrome).

Amiel J, Watkin PM, Tassabehji M, Read AP, Winter RM.

Clin Dysmorphol. 1998 Jan;7(1):17-20.

PMID:
9546825
18.

Waardenburg syndrome.

Read AP, Newton VE.

J Med Genet. 1997 Aug;34(8):656-65. Review.

19.

Waardenburg syndrome.

Konno P, Silm H.

J Eur Acad Dermatol Venereol. 2001 Jul;15(4):330-3.

PMID:
11730045
20.

[Gene responsible for Waardenburg syndrome type I].

Tsukamoto K, Niikawa N.

Tanpakushitsu Kakusan Koso. 1993 Feb;38(3):361-5. Review. Japanese. No abstract available.

PMID:
8098159

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