Chiurazzi P - Search Results

1

Triple Genetic Diagnosis in a Patient with Late-Onset Leukodystrophy and Mild Intellectual Disability.

Pasquetti D, Gazzellone A, Rossi S, Orteschi D, L'Erario FF, Concolino P, Minucci A, Dionisi-Vici C, Genuardi M, Silvestri G, Chiurazzi P. Pasquetti D, et al. Among authors: chiurazzi p. Int J Mol Sci. 2023 Dec 29;25(1):495. doi: 10.3390/ijms25010495. Int J Mol Sci. 2023. PMID: 38203665 Free PMC article.

2

Pharmacological reactivation of inactive genes: the fragile X experience.

Chiurazzi P, Neri G. Chiurazzi P, et al. Brain Res Bull. 2001 Oct-Nov 1;56(3-4):383-7. doi: 10.1016/s0361-9230(01)00571-8. Brain Res Bull. 2001. PMID: 11719276 Review.

3

Clinical picture, evolution and peculiar molecular findings in a very large pedigree with Wolfram syndrome.

Lombardo F, Chiurazzi P, Hörtnagel K, Arrigo T, Valenzise M, Meitinger T, Messina MF, Salzano G, Barberi I, De Luca F. Lombardo F, et al. Among authors: chiurazzi p. J Pediatr Endocrinol Metab. 2005 Dec;18(12):1391-7. doi: 10.1515/jpem.2005.18.12.1391. J Pediatr Endocrinol Metab. 2005. PMID: 16459465

4

A new function for the fragile X mental retardation protein in regulation of PSD-95 mRNA stability.

Zalfa F, Eleuteri B, Dickson KS, Mercaldo V, De Rubeis S, di Penta A, Tabolacci E, Chiurazzi P, Neri G, Grant SG, Bagni C. Zalfa F, et al. Among authors: chiurazzi p. Nat Neurosci. 2007 May;10(5):578-87. doi: 10.1038/nn1893. Epub 2007 Apr 8. Nat Neurosci. 2007. PMID: 17417632 Free PMC article.

5

Unstable triplets and their mutational mechanism: size reduction of the CGG repeat vs. germline mosaicism in the fragile X syndrome.

Chiurazzi P, Kozak L, Neri G. Chiurazzi P, et al. Am J Med Genet. 1994 Jul 15;51(4):517-21. doi: 10.1002/ajmg.1320510446. Am J Med Genet. 1994. PMID: 7943033 Review.

6

No apparent involvement of the FMR1 gene in five patients with phenotypic manifestations of the fragile X syndrome.

Chiurazzi P, de Graaff E, Ng J, Verkerk AJ, Wolfson S, Fisch GS, Kozak L, Neri G, Oostra BA. Chiurazzi P, et al. Am J Med Genet. 1994 Jul 15;51(4):309-14. doi: 10.1002/ajmg.1320510405. Am J Med Genet. 1994. PMID: 7942992

7

Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes.

Redin C, Le Gras S, Mhamdi O, Geoffroy V, Stoetzel C, Vincent MC, Chiurazzi P, Lacombe D, Ouertani I, Petit F, Till M, Verloes A, Jost B, Chaabouni HB, Dollfus H, Mandel JL, Muller J. Redin C, et al. Among authors: chiurazzi p. J Med Genet. 2012 Aug;49(8):502-12. doi: 10.1136/jmedgenet-2012-100875. Epub 2012 Jul 7. J Med Genet. 2012. PMID: 22773737 Free PMC article.

8

The fragile X gene and its function.

Oostra BA, Chiurazzi P. Oostra BA, et al. Among authors: chiurazzi p. Clin Genet. 2001 Dec;60(6):399-408. doi: 10.1034/j.1399-0004.2001.600601.x. Clin Genet. 2001. PMID: 11846731 Review.

9

Rho Kinase Inhibition Is Essential During In Vitro Neurogenesis and Promotes Phenotypic Rescue of Human Induced Pluripotent Stem Cell-Derived Neurons With Oligophrenin-1 Loss of Function.

Compagnucci C, Barresi S, Petrini S, Billuart P, Piccini G, Chiurazzi P, Alfieri P, Bertini E, Zanni G. Compagnucci C, et al. Among authors: chiurazzi p. Stem Cells Transl Med. 2016 Jul;5(7):860-9. doi: 10.5966/sctm.2015-0303. Epub 2016 May 9. Stem Cells Transl Med. 2016. PMID: 27160703 Free PMC article.

10

A truncating mutation in the IL1RAPL1 gene is responsible for X-linked mental retardation in the MRX21 family.

Tabolacci E, Pomponi MG, Pietrobono R, Terracciano A, Chiurazzi P, Neri G. Tabolacci E, et al. Among authors: chiurazzi p. Am J Med Genet A. 2006 Mar 1;140(5):482-7. doi: 10.1002/ajmg.a.31107. Am J Med Genet A. 2006. PMID: 16470793

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