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109 results

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Page 1
Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients.
Mantovani S, Daga S, Fallerini C, Baldassarri M, Benetti E, Picchiotti N, Fava F, Gallì A, Zibellini S, Bruttini M, Palmieri M, Croci S, Amitrano S, Alaverdian D, Capitani K, Furini S, Mari F, Meloni I; GEN-COVID Multicenter Study; Frullanti E, Mondelli MU, Renieri A. Mantovani S, et al. Among authors: baldassarri m. Genes Immun. 2022 Feb;23(1):51-56. doi: 10.1038/s41435-021-00157-1. Epub 2021 Dec 24. Genes Immun. 2022. PMID: 34952932 Free PMC article.
Characteristics of a nationwide cohort of patients presenting with isolated hypogonadotropic hypogonadism (IHH).
Bonomi M, Vezzoli V, Krausz C, Guizzardi F, Vezzani S, Simoni M, Bassi I, Duminuco P, Di Iorgi N, Giavoli C, Pizzocaro A, Russo G, Moro M, Fatti L, Ferlin A, Mazzanti L, Zatelli MC, Cannavò S, Isidori AM, Pincelli AI, Prodam F, Mancini A, Limone P, Tanda ML, Gaudino R, Salerno M, Francesca P, Maghnie M, Maggi M, Persani L; Italian Network on Central Hypogonadism; Italian Network on Central Hypogonadism (NICe group). Bonomi M, et al. Eur J Endocrinol. 2018 Jan;178(1):23-32. doi: 10.1530/EJE-17-0065. Epub 2017 Sep 7. Eur J Endocrinol. 2018. PMID: 28882981 Free article.
Revealing the complexity of a monogenic disease: rett syndrome exome sequencing.
Grillo E, Lo Rizzo C, Bianciardi L, Bizzarri V, Baldassarri M, Spiga O, Furini S, De Felice C, Signorini C, Leoncini S, Pecorelli A, Ciccoli L, Mencarelli MA, Hayek J, Meloni I, Ariani F, Mari F, Renieri A. Grillo E, et al. Among authors: baldassarri m. PLoS One. 2013;8(2):e56599. doi: 10.1371/journal.pone.0056599. Epub 2013 Feb 28. PLoS One. 2013. PMID: 23468869 Free PMC article.
Interstitial 22q13 deletions not involving SHANK3 gene: a new contiguous gene syndrome.
Disciglio V, Lo Rizzo C, Mencarelli MA, Mucciolo M, Marozza A, Di Marco C, Massarelli A, Canocchi V, Baldassarri M, Ndoni E, Frullanti E, Amabile S, Anderlid BM, Metcalfe K, Le Caignec C, David A, Fryer A, Boute O, Joris A, Greco D, Pecile V, Battini R, Novelli A, Fichera M, Romano C, Mari F, Renieri A. Disciglio V, et al. Among authors: baldassarri m. Am J Med Genet A. 2014 Jul;164A(7):1666-76. doi: 10.1002/ajmg.a.36513. Epub 2014 Apr 3. Am J Med Genet A. 2014. PMID: 24700646
Alport syndrome: impact of digenic inheritance in patients management.
Fallerini C, Baldassarri M, Trevisson E, Morbidoni V, La Manna A, Lazzarin R, Pasini A, Barbano G, Pinciaroli AR, Garosi G, Frullanti E, Pinto AM, Mencarelli MA, Mari F, Renieri A, Ariani F. Fallerini C, et al. Among authors: baldassarri m. Clin Genet. 2017 Jul;92(1):34-44. doi: 10.1111/cge.12919. Epub 2017 Feb 22. Clin Genet. 2017. PMID: 27859054
Personalized therapy in a GRIN1 mutated girl with intellectual disability and epilepsy.
Papa FT, Mancardi MM, Frullanti E, Fallerini C, Della Chiara V, Zalba-Jadraque L, Baldassarri M, Gamucci A, Mari F, Veneselli E, Renieri A. Papa FT, et al. Among authors: baldassarri m. Clin Dysmorphol. 2018 Jan;27(1):18-20. doi: 10.1097/MCD.0000000000000205. Clin Dysmorphol. 2018. PMID: 29194067 No abstract available.
109 results