Bale SJ - Search Results

1

Exclusion of PTEN, CTNNB1, and PTCH as candidate genes for Birt-Hogg-Dube syndrome.

Toro JR, Shevchenko YO, Compton JG, Bale SJ. Toro JR, et al. Among authors: bale sj. J Med Genet. 2002 Feb;39(2):E10. doi: 10.1136/jmg.39.2.e10. J Med Genet. 2002. PMID: 11836379 Free PMC article. No abstract available.

2

Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico.

Anikster Y, Huizing M, White J, Shevchenko YO, Fitzpatrick DL, Touchman JW, Compton JG, Bale SJ, Swank RT, Gahl WA, Toro JR. Anikster Y, et al. Among authors: bale sj. Nat Genet. 2001 Aug;28(4):376-80. doi: 10.1038/ng576. Nat Genet. 2001. PMID: 11455388

3

Mutation screening using automated bidirectional dideoxy fingerprinting.

Shevchenko YO, Bale SJ, Compton JG. Shevchenko YO, et al. Among authors: bale sj. Biotechniques. 2000 Jan;28(1):134-8. doi: 10.2144/00281rr01. Biotechniques. 2000. PMID: 10649784 Free article.

4

Splice-site mutation in TGM1 in congenital recessive ichthyosis in American families: molecular, genetic, genealogic, and clinical studies.

Shevchenko YO, Compton JG, Toro JR, DiGiovanna JJ, Bale SJ. Shevchenko YO, et al. Among authors: bale sj. Hum Genet. 2000 May;106(5):492-9. doi: 10.1007/s004390000284. Hum Genet. 2000. PMID: 10914678

5

Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA.

Farasat S, Wei MH, Herman M, Liewehr DJ, Steinberg SM, Bale SJ, Fleckman P, Toro JR. Farasat S, et al. Among authors: bale sj. J Med Genet. 2009 Feb;46(2):103-11. doi: 10.1136/jmg.2008.060905. Epub 2008 Oct 23. J Med Genet. 2009. PMID: 18948357 Free PMC article.

6

Genetic homogeneity in Sjögren-Larsson syndrome: linkage to chromosome 17p in families of different non-Swedish ethnic origins.

Rogers GR, Rizzo WB, Zlotogorski A, Hashem N, Lee M, Compton JG, Bale SJ. Rogers GR, et al. Among authors: bale sj. Am J Hum Genet. 1995 Nov;57(5):1123-9. Am J Hum Genet. 1995. PMID: 7485163 Free PMC article.

7

Keratin 13 point mutation underlies the hereditary mucosal epithelial disorder white sponge nevus.

Richard G, De Laurenzi V, Didona B, Bale SJ, Compton JG. Richard G, et al. Among authors: bale sj. Nat Genet. 1995 Dec;11(4):453-5. doi: 10.1038/ng1295-453. Nat Genet. 1995. PMID: 7493031

8

Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis.

Russell LJ, DiGiovanna JJ, Rogers GR, Steinert PM, Hashem N, Compton JG, Bale SJ. Russell LJ, et al. Among authors: bale sj. Nat Genet. 1995 Mar;9(3):279-83. doi: 10.1038/ng0395-279. Nat Genet. 1995. PMID: 7773290

9

Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma.

Richard G, White TW, Smith LE, Bailey RA, Compton JG, Paul DL, Bale SJ. Richard G, et al. Among authors: bale sj. Hum Genet. 1998 Oct;103(4):393-9. doi: 10.1007/s004390050839. Hum Genet. 1998. PMID: 9856479

10

Preferential sites in keratin 10 that are mutated in epidermolytic hyperkeratosis.

Chipev CC, Yang JM, DiGiovanna JJ, Steinert PM, Marekov L, Compton JG, Bale SJ. Chipev CC, et al. Among authors: bale sj. Am J Hum Genet. 1994 Feb;54(2):179-90. Am J Hum Genet. 1994. PMID: 7508181 Free PMC article.

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