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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. Among authors: farrer la. Hum Genet. 1998 May;102(5):499-506. doi: 10.1007/s004390050732. Hum Genet. 1998. PMID: 9654197
Autosomal dominant orthostatic hypotensive disorder maps to chromosome 18q.
DeStefano AL, Baldwin CT, Burzstyn M, Gavras I, Handy DE, Joost O, Martel T, Nicolaou M, Schwartz F, Streeten DH, Farrer LA, Gavras H. DeStefano AL, et al. Among authors: farrer la. Am J Hum Genet. 1998 Nov;63(5):1425-30. doi: 10.1086/302096. Am J Hum Genet. 1998. PMID: 9792870 Free PMC article.
Maternal component in the familial aggregation of hypertension.
DeStefano AL, Gavras H, Heard-Costa N, Bursztyn M, Manolis A, Farrer LA, Baldwin CT, Gavras I, Schwartz F. DeStefano AL, et al. Among authors: farrer la. Clin Genet. 2001 Jul;60(1):13-21. doi: 10.1034/j.1399-0004.2001.600103.x. Clin Genet. 2001. PMID: 11531965
467 results