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Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity.
Bachmann-Gagescu R, Mefford HC, Cowan C, Glew GM, Hing AV, Wallace S, Bader PI, Hamati A, Reitnauer PJ, Smith R, Stockton DW, Muhle H, Helbig I, Eichler EE, Ballif BC, Rosenfeld J, Tsuchiya KD. Bachmann-Gagescu R, et al. Among authors: tsuchiya kd. Genet Med. 2010 Oct;12(10):641-7. doi: 10.1097/GIM.0b013e3181ef4286. Genet Med. 2010. PMID: 20808231 Free article.
ADDENDUM: Section E9 of the American College of Medical Genetics Technical Standards and Guidelines: Fluorescence in situ hybridization.
Mascarello JT, Hirsch B, Kearney HM, Ketterling RP, Olson SB, Quigley DI, Rao KW, Tepperberg JH, Tsuchiya KD, Wiktor AE; A Working Group of the American College of Medical Genetics (ACMG) Laboratory Quality Assurance Committee. Mascarello JT, et al. Among authors: tsuchiya kd. Genet Med. 2019 Oct;21(10):2405. doi: 10.1038/s41436-019-0508-z. Genet Med. 2019. PMID: 31028353 Free article. No abstract available.
Characterization of a severe case of PIK3CA-related overgrowth at autopsy by droplet digital polymerase chain reaction and report of PIK3CA sequencing in 22 patients.
Piacitelli AM, Jensen DM, Brandling-Bennett H, Gray MM, Batra M, Gust J, Thaker A, Paschal C, Tsuchiya K, Pritchard CC, Perkins J, Mirzaa GM, Bennett JT. Piacitelli AM, et al. Am J Med Genet A. 2018 Nov;176(11):2301-2308. doi: 10.1002/ajmg.a.40487. Epub 2018 Jul 31. Am J Med Genet A. 2018. PMID: 30063105 Free PMC article.
Section E9 of the American College of Medical Genetics technical standards and guidelines: fluorescence in situ hybridization.
Mascarello JT, Hirsch B, Kearney HM, Ketterling RP, Olson SB, Quigley DI, Rao KW, Tepperberg JH, Tsuchiya KD, Wiktor AE; Working Group of the American College of Medical Genetics Laboratory Quality Assurance Committee. Mascarello JT, et al. Among authors: tsuchiya kd. Genet Med. 2011 Jul;13(7):667-75. doi: 10.1097/GIM.0b013e3182227295. Genet Med. 2011. PMID: 21738013 Free article.
47 results