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206 results

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Page 1
Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations.
Lalani SR, Liu P, Rosenfeld JA, Watkin LB, Chiang T, Leduc MS, Zhu W, Ding Y, Pan S, Vetrini F, Miyake CY, Shinawi M, Gambin T, Eldomery MK, Akdemir ZH, Emrick L, Wilnai Y, Schelley S, Koenig MK, Memon N, Farach LS, Coe BP, Azamian M, Hernandez P, Zapata G, Jhangiani SN, Muzny DM, Lotze T, Clark G, Wilfong A, Northrup H, Adesina A, Bacino CA, Scaglia F, Bonnen PE, Crosson J, Duis J, Maegawa GH, Coman D, Inwood A, McGill J, Boerwinkle E, Graham B, Beaudet A, Eng CM, Hanchard NA, Xia F, Orange JS, Gibbs RA, Lupski JR, Yang Y. Lalani SR, et al. Among authors: scaglia f. Am J Hum Genet. 2016 Feb 4;98(2):347-57. doi: 10.1016/j.ajhg.2015.12.008. Epub 2016 Jan 21. Am J Hum Genet. 2016. PMID: 26805781 Free PMC article.
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. Among authors: scaglia f. Genet Med. 2006 Dec;8(12):784-92. doi: 10.1097/01.gim.0000250502.28516.3c. Genet Med. 2006. PMID: 17172942 Free article.
Identification of proximal 1p36 deletions using array-CGH: a possible new syndrome.
Kang SH, Scheffer A, Ou Z, Li J, Scaglia F, Belmont J, Lalani SR, Roeder E, Enciso V, Braddock S, Buchholz J, Vacha S, Chinault AC, Cheung SW, Bacino CA. Kang SH, et al. Among authors: scaglia f. Clin Genet. 2007 Oct;72(4):329-38. doi: 10.1111/j.1399-0004.2007.00876.x. Clin Genet. 2007. PMID: 17850629
Brief report: autistic symptoms, developmental regression, mental retardation, epilepsy, and dyskinesias in CNS folate deficiency.
Moretti P, Peters SU, Del Gaudio D, Sahoo T, Hyland K, Bottiglieri T, Hopkin RJ, Peach E, Min SH, Goldman D, Roa B, Bacino CA, Scaglia F. Moretti P, et al. Among authors: scaglia f. J Autism Dev Disord. 2008 Jul;38(6):1170-7. doi: 10.1007/s10803-007-0492-z. Epub 2007 Nov 20. J Autism Dev Disord. 2008. PMID: 18027081 Free PMC article.
Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities.
Brunetti-Pierri N, Berg JS, Scaglia F, Belmont J, Bacino CA, Sahoo T, Lalani SR, Graham B, Lee B, Shinawi M, Shen J, Kang SH, Pursley A, Lotze T, Kennedy G, Lansky-Shafer S, Weaver C, Roeder ER, Grebe TA, Arnold GL, Hutchison T, Reimschisel T, Amato S, Geragthy MT, Innis JW, Obersztyn E, Nowakowska B, Rosengren SS, Bader PI, Grange DK, Naqvi S, Garnica AD, Bernes SM, Fong CT, Summers A, Walters WD, Lupski JR, Stankiewicz P, Cheung SW, Patel A. Brunetti-Pierri N, et al. Among authors: scaglia f. Nat Genet. 2008 Dec;40(12):1466-71. doi: 10.1038/ng.279. Nat Genet. 2008. PMID: 19029900 Free PMC article.
The Xp contiguous deletion syndrome and autism.
Shinawi M, Patel A, Panichkul P, Zascavage R, Peters SU, Scaglia F. Shinawi M, et al. Among authors: scaglia f. Am J Med Genet A. 2009 Jun;149A(6):1138-48. doi: 10.1002/ajmg.a.32833. Am J Med Genet A. 2009. PMID: 19441126
206 results