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Review of disrupted sleep patterns in Smith-Magenis syndrome and normal melatonin secretion in a patient with an atypical interstitial 17p11.2 deletion.
Boudreau EA, Johnson KP, Jackman AR, Blancato J, Huizing M, Bendavid C, Jones M, Chandrasekharappa SC, Lewy AJ, Smith AC, Magenis RE. Boudreau EA, et al. Among authors: blancato j. Am J Med Genet A. 2009 Jul;149A(7):1382-91. doi: 10.1002/ajmg.a.32846. Am J Med Genet A. 2009. PMID: 19530184 Free PMC article.
Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.
Berger SI, Ciccone C, Simon KL, Malicdan MC, Vilboux T, Billington C, Fischer R, Introne WJ, Gropman A, Blancato JK, Mullikin JC; NISC Comparative Sequencing Program; Gahl WA, Huizing M, Smith ACM. Berger SI, et al. Among authors: blancato jk. Hum Genet. 2017 Apr;136(4):409-420. doi: 10.1007/s00439-017-1767-x. Epub 2017 Feb 17. Hum Genet. 2017. PMID: 28213671 Free PMC article.
Anisomastia associated with interstitial duplication of chromosome 16, mental retardation, obesity, dysmorphic facies, and digital anomalies: molecular mapping of a new syndrome by fluorescent in situ hybridization and microsatellites to 16q13 (D16S419-D16S503).
Stratakis CA, Lafferty A, Taymans SE, Gafni RI, Meck JM, Blancato J. Stratakis CA, et al. Among authors: blancato j. J Clin Endocrinol Metab. 2000 Sep;85(9):3396-401. doi: 10.1210/jcem.85.9.6776. J Clin Endocrinol Metab. 2000. PMID: 10999840
Detection of chromosomal aberrations by a whole-genome microsatellite screen.
Rosenberg MJ, Vaske D, Killoran CE, Ning Y, Wargowski D, Hudgins L, Tifft CJ, Meck J, Blancato JK, Rosenbaum K, Pauli RM, Weber J, Biesecker LG. Rosenberg MJ, et al. Among authors: blancato jk. Am J Hum Genet. 2000 Feb;66(2):419-27. doi: 10.1086/302743. Am J Hum Genet. 2000. PMID: 10677301 Free PMC article.
70 results