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Profound T-cell defects in Dubowitz syndrome.
Lougaris V, Baronio M, Vitali M, Gualdi G, Tampella G, Moratto D, Cattalini M, Pilotta A, Buzi F, Calzavara-Pinton P, Plebani A. Lougaris V, et al. Among authors: pilotta a. Pediatr Allergy Immunol. 2014 Aug;25(5):511-3. doi: 10.1111/pai.12238. Epub 2014 Jun 5. Pediatr Allergy Immunol. 2014. PMID: 24899539 No abstract available.
Clinical and Laboratory Features of 184 Italian Pediatric Patients Affected with Selective IgA Deficiency (SIgAD): a Longitudinal Single-Center Study.
Lougaris V, Sorlini A, Monfredini C, Ingrasciotta G, Caravaggio A, Lorenzini T, Baronio M, Cattalini M, Meini A, Ruggeri L, Salpietro A, Pilotta A, Grazzani L, Prandi E, Felappi B, Gualdi G, Fabiano A, Fuoti M, Ravelli A, Villanacci V, Soresina A, Badolato R, Plebani A. Lougaris V, et al. Among authors: pilotta a. J Clin Immunol. 2019 Jul;39(5):470-475. doi: 10.1007/s10875-019-00647-y. Epub 2019 May 25. J Clin Immunol. 2019. PMID: 31129864
Mutation profile of BBS genes in patients with Bardet-Biedl syndrome: an Italian study.
Manara E, Paolacci S, D'Esposito F, Abeshi A, Ziccardi L, Falsini B, Colombo L, Iarossi G, Pilotta A, Boccone L, Guerri G, Monica M, Marta B, Maltese PE, Buzzonetti L, Rossetti L, Bertelli M. Manara E, et al. Among authors: pilotta a. Ital J Pediatr. 2019 Jun 13;45(1):72. doi: 10.1186/s13052-019-0659-1. Ital J Pediatr. 2019. PMID: 31196119 Free PMC article.
Frasier syndrome with childhood-onset renal failure.
Buzi F, Mella P, Pilotta A, Felappi B, Camerino G, Notarangelo LD. Buzi F, et al. Among authors: pilotta a. Horm Res. 2001;55(2):77-80. doi: 10.1159/000049974. Horm Res. 2001. PMID: 11509863
Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi syndrome patients.
Spena S, Milani D, Rusconi D, Negri G, Colapietro P, Elcioglu N, Bedeschi F, Pilotta A, Spaccini L, Ficcadenti A, Magnani C, Scarano G, Selicorni A, Larizza L, Gervasini C. Spena S, et al. Among authors: pilotta a. Clin Genet. 2015 Nov;88(5):431-40. doi: 10.1111/cge.12537. Epub 2014 Dec 9. Clin Genet. 2015. PMID: 25388907
41 results