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West syndrome associated with 14q12 duplications harboring FOXG1.
Striano P, Paravidino R, Sicca F, Chiurazzi P, Gimelli S, Coppola A, Robbiano A, Traverso M, Pintaudi M, Giovannini S, Operto F, Vigliano P, Granata T, Coppola G, Romeo A, Specchio N, Giordano L, Osborne LR, Gimelli G, Minetti C, Zara F. Striano P, et al. Among authors: chiurazzi p. Neurology. 2011 May 3;76(18):1600-2. doi: 10.1212/WNL.0b013e3182194bbf. Neurology. 2011. PMID: 21536641 No abstract available.
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.
Mental retardation: is naming the real issue?
Chiurazzi P. Chiurazzi P. Am J Med Genet A. 2011 May;155A(5):974-5. doi: 10.1002/ajmg.a.33950. Epub 2011 Apr 4. Am J Med Genet A. 2011. PMID: 21465654 No abstract available.
Two rare PROX1 variants in patients with lymphedema.
Ricci M, Amato B, Barati S, Compagna R, Veselenyiova D, Kenanoglu S, Stuppia L, Beccari T, Baglivo M, Kurti D, Krajcovic J, Serrani R, Dundar M, Basha SH, Chiurazzi P, Bertelli M. Ricci M, et al. Among authors: chiurazzi p. Mol Genet Genomic Med. 2020 Oct;8(10):e1424. doi: 10.1002/mgg3.1424. Epub 2020 Aug 5. Mol Genet Genomic Med. 2020. PMID: 32757260 Free PMC article.
Neuroacanthocytosis Syndromes in an Italian Cohort: Clinical Spectrum, High Genetic Variability and Muscle Involvement.
Vaisfeld A, Bruno G, Petracca M, Bentivoglio AR, Servidei S, Vita MG, Bove F, Straccia G, Dato C, Di Iorio G, Sampaolo S, Peluso S, De Rosa A, De Michele G, Barghigiani M, Galatolo D, Tessa A, Santorelli F, Chiurazzi P, Melone MAB. Vaisfeld A, et al. Among authors: chiurazzi p. Genes (Basel). 2021 Feb 26;12(3):344. doi: 10.3390/genes12030344. Genes (Basel). 2021. PMID: 33652783 Free PMC article. Clinical Trial.
129 results