Annunziata I - Search Results

1

Contiguous gene syndrome due to an interstitial deletion in Xp22.3 in a boy with ichthyosis, chondrodysplasia punctata, mental retardation and ADHD.

Lonardo F, Parenti G, Luquetti DV, Annunziata I, Della Monica M, Perone L, De Gregori M, Zuffardi O, Brunetti-Pierri N, Andria G, Scarano G. Lonardo F, et al. Among authors: annunziata i. Eur J Med Genet. 2007 Jul-Aug;50(4):301-8. doi: 10.1016/j.ejmg.2007.04.005. Epub 2007 May 21. Eur J Med Genet. 2007. PMID: 17591464

2

Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase.

Brunetti-Pierri N, Corso G, Rossi M, Ferrari P, Balli F, Rivasi F, Annunziata I, Ballabio A, Russo AD, Andria G, Parenti G. Brunetti-Pierri N, et al. Among authors: annunziata i. Am J Hum Genet. 2002 Oct;71(4):952-8. doi: 10.1086/342668. Epub 2002 Aug 20. Am J Hum Genet. 2002. PMID: 12189593 Free PMC article.

3

Pharmacological enhancement of mutated alpha-glucosidase activity in fibroblasts from patients with Pompe disease.

Parenti G, Zuppaldi A, Gabriela Pittis M, Rosaria Tuzzi M, Annunziata I, Meroni G, Porto C, Donaudy F, Rossi B, Rossi M, Filocamo M, Donati A, Bembi B, Ballabio A, Andria G. Parenti G, et al. Among authors: annunziata i. Mol Ther. 2007 Mar;15(3):508-14. doi: 10.1038/sj.mt.6300074. Epub 2007 Jan 9. Mol Ther. 2007. PMID: 17213836 Free article.

4

Pharmacological Enhancement of Mutated α-Glucosidase Activity in Fibroblasts from Patients with Pompe Disease.

Parenti G, Zuppaldi A, Gabriela Pittis M, Rosaria Tuzzi M, Annunziata I, Meroni G, Porto C, Donaudy F, Rossi B, Rossi M, Filocamo M, Donati A, Bembi B, Ballabio A, Andria G. Parenti G, et al. Among authors: annunziata i. Mol Ther. 2007 Mar;15(3):508-514. doi: 10.1038/sj.mt.6300074. Epub 2016 Dec 8. Mol Ther. 2007. PMID: 28182897

5

The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases.

Cosma MP, Pepe S, Annunziata I, Newbold RF, Grompe M, Parenti G, Ballabio A. Cosma MP, et al. Among authors: annunziata i. Cell. 2003 May 16;113(4):445-56. doi: 10.1016/s0092-8674(03)00348-9. Cell. 2003. PMID: 12757706 Free article.

6

Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency.

Cosma MP, Pepe S, Parenti G, Settembre C, Annunziata I, Wade-Martins R, Di Domenico C, Di Natale P, Mankad A, Cox B, Uziel G, Mancini GM, Zammarchi E, Donati MA, Kleijer WJ, Filocamo M, Carrozzo R, Carella M, Ballabio A. Cosma MP, et al. Among authors: annunziata i. Hum Mutat. 2004 Jun;23(6):576-81. doi: 10.1002/humu.20040. Hum Mutat. 2004. PMID: 15146462

7

Mapping of MRX81 in Xp11.2-Xq12 suggests the presence of a new gene involved in nonspecific X-linked mental retardation.

Annunziata I, Lanzara C, Conte I, Zullo A, Ventruto V, Rinaldi MM, D'Urso M, Casari G, Ciccodicola A, Miano MG. Annunziata I, et al. Am J Med Genet A. 2003 Apr 30;118A(3):217-22. doi: 10.1002/ajmg.a.10144. Am J Med Genet A. 2003. PMID: 12673650

8

Sulfatases and sulfatase modifying factors: an exclusive and promiscuous relationship.

Sardiello M, Annunziata I, Roma G, Ballabio A. Sardiello M, et al. Among authors: annunziata i. Hum Mol Genet. 2005 Nov 1;14(21):3203-17. doi: 10.1093/hmg/ddi351. Epub 2005 Sep 20. Hum Mol Genet. 2005. PMID: 16174644

9

Systemic inflammation and neurodegeneration in a mouse model of multiple sulfatase deficiency.

Settembre C, Annunziata I, Spampanato C, Zarcone D, Cobellis G, Nusco E, Zito E, Tacchetti C, Cosma MP, Ballabio A. Settembre C, et al. Among authors: annunziata i. Proc Natl Acad Sci U S A. 2007 Mar 13;104(11):4506-11. doi: 10.1073/pnas.0700382104. Epub 2007 Mar 6. Proc Natl Acad Sci U S A. 2007. PMID: 17360554 Free PMC article.

10

Multiple sulfatase deficiency is due to hypomorphic mutations of the SUMF1 gene.

Annunziata I, Bouchè V, Lombardi A, Settembre C, Ballabio A. Annunziata I, et al. Hum Mutat. 2007 Sep;28(9):928. doi: 10.1002/humu.9504. Hum Mutat. 2007. PMID: 17657823

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