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Deletion (9) (p13.1 p21.1).
Scaglia F, Bodamer OA, Berend SA, Adam LR, Shaffer LG. Scaglia F, et al. Am J Med Genet. 2000 Mar 13;91(2):113-5. Am J Med Genet. 2000. PMID: 10748408
Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly.
Yatsenko SA, Cheung SW, Scott DA, Nowaczyk MJ, Tarnopolsky M, Naidu S, Bibat G, Patel A, Leroy JG, Scaglia F, Stankiewicz P, Lupski JR. Yatsenko SA, et al. Among authors: scaglia f. J Med Genet. 2005 Apr;42(4):328-35. doi: 10.1136/jmg.2004.028258. J Med Genet. 2005. PMID: 15805160 Free PMC article. No abstract available.
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
Phenotypic manifestations of copy number variation in chromosome 16p13.11.
Nagamani SC, Erez A, Bader P, Lalani SR, Scott DA, Scaglia F, Plon SE, Tsai CH, Reimschisel T, Roeder E, Malphrus AD, Eng PA, Hixson PM, Kang SH, Stankiewicz P, Patel A, Cheung SW. Nagamani SC, et al. Among authors: scaglia f. Eur J Hum Genet. 2011 Mar;19(3):280-6. doi: 10.1038/ejhg.2010.184. Epub 2010 Dec 8. Eur J Hum Genet. 2011. PMID: 21150890 Free PMC article.
207 results