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A diagnosis of Birt-Hogg-Dubé syndrome in individuals with Smith-Magenis syndrome: Recommendation for cancer screening.
Vocke CD, Fleming LR, Piskorski AM, Amin A, Phornphutkul C, de la Monte S, Vilboux T, Duncan F, Pellegrino J, Braddock B, Middelton LA, Schmidt LS, Merino MJ, Cowen EW, Introne WJ, Linehan WM, Smith ACM. Vocke CD, et al. Among authors: smith acm. Am J Med Genet A. 2023 Feb;191(2):490-497. doi: 10.1002/ajmg.a.63049. Epub 2022 Dec 13. Am J Med Genet A. 2023. PMID: 36513625 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: smith acm. 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.
Auditory Phenotype of Smith-Magenis Syndrome.
Brendal MA, King KA, Zalewski CK, Finucane BM, Introne W, Brewer CC, Smith ACM. Brendal MA, et al. Among authors: smith acm. J Speech Lang Hear Res. 2017 Apr 14;60(4):1076-1087. doi: 10.1044/2016_JSLHR-H-16-0024. J Speech Lang Hear Res. 2017. PMID: 28384694 Free PMC article.
Autism spectrum features in Smith-Magenis syndrome.
Laje G, Morse R, Richter W, Ball J, Pao M, Smith AC. Laje G, et al. Am J Med Genet C Semin Med Genet. 2010 Nov 15;154C(4):456-62. doi: 10.1002/ajmg.c.30275. Am J Med Genet C Semin Med Genet. 2010. PMID: 20981775 Free PMC article.
Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity.
Adams DR, Yuan H, Holyoak T, Arajs KH, Hakimi P, Markello TC, Wolfe LA, Vilboux T, Burton BK, Fajardo KF, Grahame G, Holloman C, Sincan M, Smith AC, Wells GA, Huang Y, Vega H, Snyder JP, Golas GA, Tifft CJ, Boerkoel CF, Hanson RW, Traynelis SF, Kerr DS, Gahl WA. Adams DR, et al. Mol Genet Metab. 2014 Nov;113(3):161-70. doi: 10.1016/j.ymgme.2014.04.001. Epub 2014 Apr 13. Mol Genet Metab. 2014. PMID: 24863970 Free PMC article.
45 results