Scaglia F - Search Results

1

Deletion and duplication of 15q24: molecular mechanisms and potential modification by additional copy number variants.

El-Hattab AW, Zhang F, Maxim R, Christensen KM, Ward JC, Hines-Dowell S, Scaglia F, Lupski JR, Cheung SW. El-Hattab AW, et al. Among authors: scaglia f. Genet Med. 2010 Sep;12(9):573-86. doi: 10.1097/GIM.0b013e3181eb9b4a. Genet Med. 2010. PMID: 20860070 Free article.

2

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

3

Compensating for central nervous system dysmyelination: females with a proteolipid protein gene duplication and sustained clinical improvement.

Inoue K, Tanaka H, Scaglia F, Araki A, Shaffer LG, Lupski JR. Inoue K, et al. Among authors: scaglia f. Ann Neurol. 2001 Dec;50(6):747-54. doi: 10.1002/ana.10036. Ann Neurol. 2001. PMID: 11761472

4

Variant Gaucher disease characterized by dysmorphic features, absence of cardiovascular involvement, laryngospasm, and compound heterozygosity for a novel mutation (D409H/C16S).

Bodamer OA, Church HJ, Cooper A, Wraith JE, Scott CR, Scaglia F. Bodamer OA, et al. Among authors: scaglia f. Am J Med Genet. 2002 May 15;109(4):328-31. doi: 10.1002/ajmg.10385. Am J Med Genet. 2002. PMID: 11992489

5

Spinocerebellar ataxia type 2 (SCA2) presenting with ophthalmoplegia and developmental delay in infancy.

Moretti P, Blazo M, Garcia L, Armstrong D, Lewis RA, Roa B, Scaglia F. Moretti P, et al. Among authors: scaglia f. Am J Med Genet A. 2004 Feb 1;124A(4):392-6. doi: 10.1002/ajmg.a.20428. Am J Med Genet A. 2004. PMID: 14735588

6

MNGIE with lack of skeletal muscle involvement and a novel TP splice site mutation.

Szigeti K, Wong LJ, Perng CL, Saifi GM, Eldin K, Adesina AM, Cass DL, Hirano M, Lupski JR, Scaglia F. Szigeti K, et al. Among authors: scaglia f. J Med Genet. 2004 Feb;41(2):125-9. doi: 10.1136/jmg.2003.013789. J Med Genet. 2004. PMID: 14757860 Free PMC article.

7

Attenuated phenotype in a child with trisomy for 1q due to unbalanced X;1 translocation [46,X,der(X),t(X;1)(q28;q32.1)].

Yatsenko SA, Sahoo T, Rosenkranz M, Mendoza-Londono R, Naeem R, Scaglia F. Yatsenko SA, et al. Among authors: scaglia f. Am J Med Genet A. 2004 Jul 1;128A(1):72-7. doi: 10.1002/ajmg.a.30094. Am J Med Genet A. 2004. PMID: 15211662

8

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.

9

Molecular bases of hearing loss in multi-systemic mitochondrial cytopathy.

Scaglia F, Hsu CH, Kwon H, Bai RK, Perng CL, Chang HM, Dai P, Smith EO, Whiteman DA, Feigenbaum A, Gropman A, Wong LJ. Scaglia F, et al. Genet Med. 2006 Oct;8(10):641-52. doi: 10.1097/01.gim.0000237781.10594.d1. Genet Med. 2006. PMID: 17079881 Free article.

10

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.

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