DC01848/DC/NIDCD NIH HHS/United States[Grants and Funding] - Search Results

Year	Number of Results
1994	1
1995	3
1996	2
1998	1
2025	0

1

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. Baldwin CT, et al. Am J Med Genet. 1995 Aug 28;58(2):115-22. doi: 10.1002/ajmg.1320580205. Am J Med Genet. 1995. PMID: 8533800 Review.

2

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. DeStefano AL, et al. Hum Genet. 1998 May;102(5):499-506. doi: 10.1007/s004390050732. Hum Genet. 1998. PMID: 9654197

3

Mutations in PAX3 associated with Waardenburg syndrome type I.

Baldwin CT, Lipsky NR, Hoth CF, Cohen T, Mamuya W, Milunsky A. Baldwin CT, et al. Hum Mutat. 1994;3(3):205-11. doi: 10.1002/humu.1380030306. Hum Mutat. 1994. PMID: 8019556

4

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

Lautenschlager NT, Milunsky A, DeStefano A, Farrer L, Baldwin CT. Lautenschlager NT, et al. Genet Anal. 1996 Jul;13(2):43-4. doi: 10.1016/1050-3862(95)00148-4. Genet Anal. 1996. PMID: 8880147

5

Chromosome 13q deletion with Waardenburg syndrome: further evidence for a gene involved in neural crest function on 13q.

Van Camp G, Van Thienen MN, Handig I, Van Roy B, Rao VS, Milunsky A, Read AP, Baldwin CT, Farrer LA, Bonduelle M, et al. Van Camp G, et al. J Med Genet. 1995 Jul;32(7):531-6. doi: 10.1136/jmg.32.7.531. J Med Genet. 1995. PMID: 7562965 Free PMC article.

6

Linkage of congenital, recessive deafness (DFNB4) to chromosome 7q31 and evidence for genetic heterogeneity in the Middle Eastern Druze population.

Baldwin CT, Weiss S, Farrer LA, De Stefano AL, Adair R, Franklyn B, Kidd KK, Korostishevsky M, Bonné-Tamir B. Baldwin CT, et al. Hum Mol Genet. 1995 Sep;4(9):1637-42. doi: 10.1093/hmg/4.9.1637. Hum Mol Genet. 1995. PMID: 8541853

7

Linkage of congenital recessive deafness (gene DFNB10) to chromosome 21q22.3.

Bonné-Tamir B, DeStefano AL, Briggs CE, Adair R, Franklyn B, Weiss S, Korostishevsky M, Frydman M, Baldwin CT, Farrer LA. Bonné-Tamir B, et al. Am J Hum Genet. 1996 Jun;58(6):1254-9. Am J Hum Genet. 1996. PMID: 8651303 Free PMC article.

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