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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: maayan c. Genomics. 1999 Jun 15;58(3):302-9. doi: 10.1006/geno.1999.5848. Genomics. 1999. PMID: 10373328
Identification of the first non-Jewish mutation in familial Dysautonomia.
Leyne M, Mull J, Gill SP, Cuajungco MP, Oddoux C, Blumenfeld A, Maayan C, Gusella JF, Axelrod FB, Slaugenhaupt SA. Leyne M, et al. Among authors: maayan c. Am J Med Genet A. 2003 May 1;118A(4):305-8. doi: 10.1002/ajmg.a.20052. Am J Med Genet A. 2003. PMID: 12687659
Exclusion of familial dysautonomia from more than 60% of the genome.
Blumenfeld A, Axelrod FB, Trofatter JA, Maayan C, Lucente DE, Slaugenhaupt SA, Liebert CB, Ozelius LJ, Haines JL, Breakefield XO, et al. Blumenfeld A, et al. Among authors: maayan c. J Med Genet. 1993 Jan;30(1):47-52. doi: 10.1136/jmg.30.1.47. J Med Genet. 1993. PMID: 8093738 Free PMC article.
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: maayan c. Mamm Genome. 2000 Jan;11(1):81-3. doi: 10.1007/s003350010017. Mamm Genome. 2000. PMID: 10603000 No abstract available.
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: maayan c. 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.
Precise genetic mapping and haplotype analysis of the familial dysautonomia gene on human chromosome 9q31.
Blumenfeld A, Slaugenhaupt SA, Liebert CB, Temper V, Maayan C, Gill S, Lucente DE, Idelson M, MacCormack K, Monahan MA, Mull J, Leyne M, Mendillo M, Schiripo T, Mishori E, Breakefield X, Axelrod FB, Gusella JF. Blumenfeld A, et al. Among authors: maayan c. Am J Hum Genet. 1999 Apr;64(4):1110-8. doi: 10.1086/302339. Am J Hum Genet. 1999. PMID: 10090896 Free PMC article.
97 results