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Cystic cerebellar dysplasia and biallelic LAMA1 mutations: a lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defects.
Vilboux T, Malicdan MC, Chang YM, Guo J, Zerfas PM, Stephen J, Cullinane AR, Bryant J, Fischer R, Brooks BP, Zein WM, Wiggs EA, Zalewski CK, Poretti A, Bryan MM, Vemulapalli M, Mullikin JC, Kirby M, Anderson SM; NISC Comparative Sequencing Program; Huizing M, Toro C, Gahl WA, Gunay-Aygun M. Vilboux T, et al. J Med Genet. 2016 May;53(5):318-29. doi: 10.1136/jmedgenet-2015-103416. Epub 2016 Jan 13. J Med Genet. 2016. PMID: 27095636 Free PMC article.
Genome-wide ChIP-Seq reveals a dramatic shift in the binding of the transcription factor erythroid Kruppel-like factor during erythrocyte differentiation.
Pilon AM, Ajay SS, Kumar SA, Steiner LA, Cherukuri PF, Wincovitch S, Anderson SM; NISC Comparative Sequencing Center; Mullikin JC, Gallagher PG, Hardison RC, Margulies EH, Bodine DM. Pilon AM, et al. Among authors: anderson sm. Blood. 2011 Oct 27;118(17):e139-48. doi: 10.1182/blood-2011-05-355107. Epub 2011 Sep 6. Blood. 2011. PMID: 21900194 Free PMC article.
6,503 results