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Peripherin gene is linked to keratin 18 gene on human chromosome 12.
Blumenfeld A, Lucente DE, Trofatter JA, Lerner T, Slaugenhaupt SA, Liebert CB, Monahan M, Haines JL, Gusella JF, Breakefield XO, Parysek LM. Blumenfeld A, et al. Among authors: lucente de. Somat Cell Mol Genet. 1995 Jan;21(1):83-8. doi: 10.1007/BF02255825. Somat Cell Mol Genet. 1995. PMID: 7541564
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: lucente de. 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.
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: lucente de. Am J Hum Genet. 1999 Apr;64(4):1110-8. doi: 10.1086/302339. Am J Hum Genet. 1999. PMID: 10090896 Free PMC article.
Tissue- and cell-type-specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models.
Tai DJC, Razaz P, Erdin S, Gao D, Wang J, Nuttle X, de Esch CE, Collins RL, Currall BB, O'Keefe K, Burt ND, Yadav R, Wang L, Mohajeri K, Aneichyk T, Ragavendran A, Stortchevoi A, Morini E, Ma W, Lucente D, Hastie A, Kelleher RJ, Perlis RH, Talkowski ME, Gusella JF. Tai DJC, et al. Among authors: lucente d, de esch ce. Am J Hum Genet. 2022 Oct 6;109(10):1789-1813. doi: 10.1016/j.ajhg.2022.08.012. Epub 2022 Sep 23. Am J Hum Genet. 2022. PMID: 36152629 Free PMC article.
TAA repeat variation in the GRIK2 gene does not influence age at onset in Huntington's disease.
Lee JH, Lee JM, Ramos EM, Gillis T, Mysore JS, Kishikawa S, Hadzi T, Hendricks AE, Hayden MR, Morrison PJ, Nance M, Ross CA, Margolis RL, Squitieri F, Gellera C, Gomez-Tortosa E, Ayuso C, Suchowersky O, Trent RJ, McCusker E, Novelletto A, Frontali M, Jones R, Ashizawa T, Frank S, Saint-Hilaire MH, Hersch SM, Rosas HD, Lucente D, Harrison MB, Zanko A, Abramson RK, Marder K, Sequeiros J, Landwehrmeyer GB; Registry Study of the European Huntington's Disease Network; Shoulson I; Huntington Study Group COHORT project; Myers RH, MacDonald ME, Gusella JF. Lee JH, et al. Biochem Biophys Res Commun. 2012 Aug 3;424(3):404-8. doi: 10.1016/j.bbrc.2012.06.120. Epub 2012 Jul 3. Biochem Biophys Res Commun. 2012. PMID: 22771793 Free PMC article.
Population stratification may bias analysis of PGC-1α as a modifier of age at Huntington disease motor onset.
Ramos EM, Latourelle JC, Lee JH, Gillis T, Mysore JS, Squitieri F, Di Pardo A, Di Donato S, Hayden MR, Morrison PJ, Nance M, Ross CA, Margolis RL, Gomez-Tortosa E, Ayuso C, Suchowersky O, Trent RJ, McCusker E, Novelletto A, Frontali M, Jones R, Ashizawa T, Frank S, Saint-Hilaire MH, Hersch SM, Rosas HD, Lucente D, Harrison MB, Zanko A, Marder K, Gusella JF, Lee JM, Alonso I, Sequeiros J, Myers RH, Macdonald ME. Ramos EM, et al. Hum Genet. 2012 Dec;131(12):1833-40. doi: 10.1007/s00439-012-1205-z. Epub 2012 Jul 25. Hum Genet. 2012. PMID: 22825315 Free PMC article.
65 results