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19 results

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Page 1
A de novo 0.63 Mb 6q25.1 deletion associated with growth failure, congenital heart defect, underdeveloped cerebellar vermis, abnormal cutaneous elasticity and joint laxity.
Salpietro V, Ruggieri M, Mankad K, Di Rosa G, Granata F, Loddo I, Moschella E, Calabro MP, Capalbo A, Bernardini L, Novelli A, Polizzi A, Seidler DG, Arrigo T, Briuglia S. Salpietro V, et al. Among authors: loddo i. Am J Med Genet A. 2015 Sep;167A(9):2042-51. doi: 10.1002/ajmg.a.37118. Epub 2015 May 1. Am J Med Genet A. 2015. PMID: 25940952
Autoimmune liver disease in Noonan Syndrome.
Loddo I, Romano C, Cutrupi MC, Sciveres M, Riva S, Salpietro A, Ferraù V, Gallizzi R, Briuglia S. Loddo I, et al. Eur J Med Genet. 2015 Mar;58(3):188-90. doi: 10.1016/j.ejmg.2014.12.013. Epub 2015 Jan 13. Eur J Med Genet. 2015. PMID: 25595571
Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein-Taybi syndrome: the interconnections of epigenetic machinery disorders.
Negri G, Magini P, Milani D, Crippa M, Biamino E, Piccione M, Sotgiu S, Perrìa C, Vitiello G, Frontali M, Boni A, Di Fede E, Gandini MC, Colombo EA, Bamshad MJ, Nickerson DA, Smith JD, Loddo I, Finelli P, Seri M, Pippucci T, Larizza L, Gervasini C. Negri G, et al. Among authors: loddo i. Hum Genet. 2019 Mar;138(3):257-269. doi: 10.1007/s00439-019-01985-y. Epub 2019 Feb 26. Hum Genet. 2019. PMID: 30806792 Free PMC article.
Cardiac defects in RASopathies: a review of genotype- phenotype correlations.
Loddo I, Cutrupi MC, Concolino D, De Sarro R, Barbalace A, Salpietro A, Busceti D, Ceravolo MD, Calabrò MP, Ceravolo G, Gambadauro A, Cuppari C. Loddo I, et al. J Biol Regul Homeost Agents. 2020 Jul-Aug;34(4 Suppl. 2):23-30. SPECIAL ISSUE: FOCUS ON PEDIATRIC CARDIOLOGY. J Biol Regul Homeost Agents. 2020. PMID: 33000596 No abstract available.
Partially hydrolyzed guar gum in pediatric functional abdominal pain.
Romano C, Comito D, Famiani A, Calamarà S, Loddo I. Romano C, et al. Among authors: loddo i. World J Gastroenterol. 2013 Jan 14;19(2):235-40. doi: 10.3748/wjg.v19.i2.235. World J Gastroenterol. 2013. PMID: 23345946 Free PMC article. Clinical Trial.
Genetics and cardiovascular disease.
Loddo I, Barbera F, Di Gesaro G, Cutrupi MC, Calabrò MP, Ceravolo G, Salpietro C, Gramaglia SMC, Ceravolo A, Concolino D, De Sarro R, Cuppari C, Gitto E, Clemenza F, Di Carlo D. Loddo I, et al. J Biol Regul Homeost Agents. 2020 Jul-Aug;34(4 Suppl. 2):17-22. SPECIAL ISSUE: FOCUS ON PEDIATRIC CARDIOLOGY. J Biol Regul Homeost Agents. 2020. PMID: 33000595 No abstract available.
19 results