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439 results

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Page 1
Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia.
Slaugenhaupt SA, Blumenfeld A, Gill SP, Leyne M, Mull J, Cuajungco MP, Liebert CB, Chadwick B, Idelson M, Reznik L, Robbins C, Makalowska I, Brownstein M, Krappmann D, Scheidereit C, Maayan C, Axelrod FB, Gusella JF. Slaugenhaupt SA, et al. Among authors: brownstein m. Am J Hum Genet. 2001 Mar;68(3):598-605. doi: 10.1086/318810. Epub 2001 Jan 22. Am J Hum Genet. 2001. PMID: 11179008 Free PMC article.
Cloning, mapping, and expression of two novel actin genes, actin-like-7A (ACTL7A) and actin-like-7B (ACTL7B), from the familial dysautonomia candidate region on 9q31.
Chadwick BP, Mull J, Helbling LA, Gill S, Leyne M, Robbins CM, Pinkett HW, Makalowska I, Maayan C, Blumenfeld A, Axelrod FB, Brownstein M, Gusella JF, Slaugenhaupt SA. Chadwick BP, et al. Among authors: brownstein m. Genomics. 1999 Jun 15;58(3):302-9. doi: 10.1006/geno.1999.5848. Genomics. 1999. PMID: 10373328
Cloning, mapping, and expression of a novel brain-specific transcript in the familial dysautonomia candidate region on chromosome 9q31.
Chadwick BP, Leyne M, Gill S, Liebert CB, Mull J, Mezey E, Robbins CM, Pinkett HW, Makalowska I, Maayan C, Blumenfeld A, Axelrod FB, Brownstein M, Gusella JF, Slaugenhaupt SA. Chadwick BP, et al. Among authors: brownstein m. Mamm Genome. 2000 Jan;11(1):81-3. doi: 10.1007/s003350010017. Mamm Genome. 2000. PMID: 10603000 No abstract available.
Isolation and characterization of the human homeobox gene HOX D1.
Appukuttan B, Sood R, Ott S, Makalowska I, Patel RJ, Wang X, Robbins CM, Brownstein MJ, Stout JT. Appukuttan B, et al. Among authors: brownstein mj. Mol Biol Rep. 2000;27(4):195-201. doi: 10.1023/a:1011048931477. Mol Biol Rep. 2000. PMID: 11455954
Localization of a gene for Duane retraction syndrome to chromosome 2q31.
Appukuttan B, Gillanders E, Juo SH, Freas-Lutz D, Ott S, Sood R, Van Auken A, Bailey-Wilson J, Wang X, Patel RJ, Robbins CM, Chung M, Annett G, Weinberg K, Borchert MS, Trent JM, Brownstein MJ, Stout JT. Appukuttan B, et al. Among authors: brownstein mj. Am J Hum Genet. 1999 Dec;65(6):1639-46. doi: 10.1086/302656. Am J Hum Genet. 1999. PMID: 10577917 Free PMC article.
Germline mutations in the ribonuclease L gene in families showing linkage with HPC1.
Carpten J, Nupponen N, Isaacs S, Sood R, Robbins C, Xu J, Faruque M, Moses T, Ewing C, Gillanders E, Hu P, Bujnovszky P, Makalowska I, Baffoe-Bonnie A, Faith D, Smith J, Stephan D, Wiley K, Brownstein M, Gildea D, Kelly B, Jenkins R, Hostetter G, Matikainen M, Schleutker J, Klinger K, Connors T, Xiang Y, Wang Z, De Marzo A, Papadopoulos N, Kallioniemi OP, Burk R, Meyers D, Grönberg H, Meltzer P, Silverman R, Bailey-Wilson J, Walsh P, Isaacs W, Trent J. Carpten J, et al. Among authors: brownstein m. Nat Genet. 2002 Feb;30(2):181-4. doi: 10.1038/ng823. Epub 2002 Jan 22. Nat Genet. 2002. PMID: 11799394
Progressive juvenile-onset punctate cataracts caused by mutation of the gammaD-crystallin gene.
Stephan DA, Gillanders E, Vanderveen D, Freas-Lutz D, Wistow G, Baxevanis AD, Robbins CM, VanAuken A, Quesenberry MI, Bailey-Wilson J, Juo SH, Trent JM, Smith L, Brownstein MJ. Stephan DA, et al. Among authors: brownstein mj. Proc Natl Acad Sci U S A. 1999 Feb 2;96(3):1008-12. doi: 10.1073/pnas.96.3.1008. Proc Natl Acad Sci U S A. 1999. PMID: 9927684 Free PMC article.
Lessons learned from Miki.
Mezey E, Brownstein M. Mezey E, et al. Among authors: brownstein m. Neurochem Res. 2006 Feb;31(2):127-9. doi: 10.1007/s11064-005-9003-9. Neurochem Res. 2006. PMID: 16673173 No abstract available.
439 results