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Alu-mediated deletion of PIGL in a Patient with CHIME syndrome.
Knight Johnson A, Schaefer GB, Lee J, Hu Y, Del Gaudio D. Knight Johnson A, et al. Among authors: del gaudio d. Am J Med Genet A. 2017 May;173(5):1378-1382. doi: 10.1002/ajmg.a.38181. Epub 2017 Mar 28. Am J Med Genet A. 2017. PMID: 28371479
Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males.
del Gaudio D, Fang P, Scaglia F, Ward PA, Craigen WJ, Glaze DG, Neul JL, Patel A, Lee JA, Irons M, Berry SA, Pursley AA, Grebe TA, Freedenberg D, Martin RA, Hsich GE, Khera JR, Friedman NR, Zoghbi HY, Eng CM, Lupski JR, Beaudet AL, Cheung SW, Roa BB. del Gaudio D, et al. Genet Med. 2006 Dec;8(12):784-92. doi: 10.1097/01.gim.0000250502.28516.3c. Genet Med. 2006. PMID: 17172942 Free article.
22q13.3 deletion syndrome: clinical and molecular analysis using array CGH.
Dhar SU, del Gaudio D, German JR, Peters SU, Ou Z, Bader PI, Berg JS, Blazo M, Brown CW, Graham BH, Grebe TA, Lalani S, Irons M, Sparagana S, Williams M, Phillips JA 3rd, Beaudet AL, Stankiewicz P, Patel A, Cheung SW, Sahoo T. Dhar SU, et al. Among authors: del gaudio d. Am J Med Genet A. 2010 Mar;152A(3):573-81. doi: 10.1002/ajmg.a.33253. Am J Med Genet A. 2010. PMID: 20186804 Free PMC article.
Pancreatic Histopathology of Human Monogenic Diabetes Due to Causal Variants in KCNJ11, HNF1A, GATA6, and LMNA.
Sanyoura M, Jacobsen L, Carmody D, Del Gaudio D, Alkorta-Aranburu G, Arndt K, Hu Y, Kobiernicki F, Kusmartseva I, Atkinson MA, Philipson LH, Schatz D, Campbell-Thompson M, Greeley SAW. Sanyoura M, et al. Among authors: del gaudio d. J Clin Endocrinol Metab. 2018 Jan 1;103(1):35-45. doi: 10.1210/jc.2017-01159. J Clin Endocrinol Metab. 2018. PMID: 28938416 Free PMC article.
Molecular characterization of HDAC8 deletions in individuals with atypical Cornelia de Lange syndrome.
Helgeson M, Keller-Ramey J, Knight Johnson A, Lee JA, Magner DB, Deml B, Deml J, Hu YY, Li Z, Donato K, Das S, Laframboise R, Tremblay S, Krantz I, Noon S, Hoganson G, Burton J, Schaaf CP, Del Gaudio D. Helgeson M, et al. Among authors: del gaudio d. J Hum Genet. 2018 Mar;63(3):349-356. doi: 10.1038/s10038-017-0387-6. Epub 2017 Dec 26. J Hum Genet. 2018. PMID: 29279609
63 results