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The Human Microbiota in Endocrinology: Implications for Pathophysiology, Treatment, and Prognosis in Thyroid Diseases.
Docimo G, Cangiano A, Romano RM, Pignatelli MF, Offi C, Paglionico VA, Galdiero M, Donnarumma G, Nigro V, Esposito D, Rotondi M, Candela G, Pasquali D. Docimo G, et al. Among authors: nigro v. Front Endocrinol (Lausanne). 2020 Dec 4;11:586529. doi: 10.3389/fendo.2020.586529. eCollection 2020. Front Endocrinol (Lausanne). 2020. PMID: 33343507 Free PMC article. Review.
A Rare Case of Severe Congenital RYR1-Associated Myopathy.
Laforgia N, Capozza M, De Cosmo L, Di Mauro A, Baldassarre ME, Mercadante F, Torella AL, Nigro V, Resta N. Laforgia N, et al. Among authors: nigro v. Case Rep Genet. 2018 Aug 1;2018:6184185. doi: 10.1155/2018/6184185. eCollection 2018. Case Rep Genet. 2018. PMID: 30155320 Free PMC article.
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes.
Scala M, Nishikawa M, Ito H, Tabata H, Khan T, Accogli A, Davids L, Ruiz A, Chiurazzi P, Cericola G, Schulte B, Monaghan KG, Begtrup A, Torella A, Pinelli M, Denommé-Pichon AS, Vitobello A, Racine C, Mancardi MM, Kiss C, Guerin A, Wu W, Gabau Vila E, Mak BC, Martinez-Agosto JA, Gorin MB, Duz B, Bayram Y, Carvalho CMB, Vengoechea JE, Chitayat D, Tan TY, Callewaert B, Kruse B, Bird LM, Faivre L, Zollino M, Biskup S; Undiagnosed Diseases Network; Telethon Undiagnosed Diseases Program; Striano P, Nigro V, Severino M, Capra V, Costain G, Nagata KI. Scala M, et al. Among authors: nigro v. Brain. 2022 Sep 14;145(9):3308-3327. doi: 10.1093/brain/awac106. Brain. 2022. PMID: 35851598 Free PMC article.
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome.
Cappuccio G, Sayou C, Tanno PL, Tisserant E, Bruel AL, Kennani SE, Sá J, Low KJ, Dias C, Havlovicová M, Hančárová M, Eichler EE, Devillard F, Moutton S, Van-Gils J, Dubourg C, Odent S, Gerard B, Piton A, Yamamoto T, Okamoto N, Firth H, Metcalfe K, Moh A, Chapman KA, Aref-Eshghi E, Kerkhof J, Torella A, Nigro V, Perrin L, Piard J, Le Guyader G, Jouan T, Thauvin-Robinet C, Duffourd Y, George-Abraham JK, Buchanan CA, Williams D, Kini U, Wilson K; Telethon Undiagnosed Diseases Program; Sousa SB, Hennekam RCM, Sadikovic B, Thevenon J, Govin J, Vitobello A, Brunetti-Pierri N. Cappuccio G, et al. Among authors: nigro v. Genet Med. 2020 Nov;22(11):1838-1850. doi: 10.1038/s41436-020-0898-y. Epub 2020 Jul 22. Genet Med. 2020. PMID: 32694869 Free article.
Analysis of 22 deletion breakpoints in dystrophin intron 49.
Nobile C, Toffolatti L, Rizzi F, Simionati B, Nigro V, Cardazzo B, Patarnello T, Valle G, Danieli GA. Nobile C, et al. Among authors: nigro v. Hum Genet. 2002 May;110(5):418-21. doi: 10.1007/s00439-002-0721-7. Epub 2002 Apr 9. Hum Genet. 2002. PMID: 12073011
323 results