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Page 1
Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement.
Lacombe D, Bloch-Zupan A, Bredrup C, Cooper EB, Houge SD, García-Miñaúr S, Kayserili H, Larizza L, Lopez Gonzalez V, Menke LA, Milani D, Saettini F, Stevens CA, Tooke L, Van der Zee JA, Van Genderen MM, Van-Gils J, Waite J, Adrien JL, Bartsch O, Bitoun P, Bouts AHM, Cueto-González AM, Dominguez-Garrido E, Duijkers FA, Fergelot P, Halstead E, Huisman SA, Meossi C, Mullins J, Nikkel SM, Oliver C, Prada E, Rei A, Riddle I, Rodriguez-Fonseca C, Rodríguez Pena R, Russell J, Saba A, Santos-Simarro F, Simpson BN, Smith DF, Stevens MF, Szakszon K, Taupiac E, Totaro N, Valenzuena Palafoll I, Van Der Kaay DCM, Van Wijk MP, Vyshka K, Wiley S, Hennekam RC. Lacombe D, et al. Among authors: meossi c. J Med Genet. 2024 May 14:jmg-2023-109438. doi: 10.1136/jmg-2023-109438. Online ahead of print. J Med Genet. 2024. PMID: 38471765 Free article. Review.
CATSHL syndrome, a new family and phenotypic expansion.
Cannova S, Meossi C, Grilli F, Milani D, Alberti F, Cesaretti C, Marchisio PG, Crosti F, Pezzani L. Cannova S, et al. Among authors: meossi c. Clin Genet. 2024 Mar;105(3):313-316. doi: 10.1111/cge.14455. Epub 2023 Nov 22. Clin Genet. 2024. PMID: 37990933
Comparison of first-tier whole-exome sequencing with a multi-step traditional approach for diagnosing paediatric outpatients: An Italian prospective study.
Rosina E, Pezzani L, Apuril E, Pezzoli L, Marchetti D, Bellini M, Lucca C, Meossi C, Massimello M, Mariani M, Scatigno A, Cattaneo E, Colombo L, Maitz S, Cereda A, Milani D, Spaccini L, Bedeschi MF, Selicorni A, Iascone M. Rosina E, et al. Among authors: meossi c. Mol Genet Genomic Med. 2024 Jan;12(1):e2316. doi: 10.1002/mgg3.2316. Epub 2023 Dec 2. Mol Genet Genomic Med. 2024. PMID: 38041506 Free PMC article.
Permanent diabetes during the first year of life: multiple gene screening in 54 patients.
Russo L, Iafusco D, Brescianini S, Nocerino V, Bizzarri C, Toni S, Cerutti F, Monciotti C, Pesavento R, Iughetti L, Bernardini L, Bonfanti R, Gargantini L, Vanelli M, Aguilar-Bryan L, Stazi MA, Grasso V, Colombo C, Barbetti F; ISPED Early Diabetes Study Group. Russo L, et al. Diabetologia. 2011 Jul;54(7):1693-701. doi: 10.1007/s00125-011-2094-8. Epub 2011 Mar 10. Diabetologia. 2011. PMID: 21544516 Free PMC article.
Use of integrated real-time continuous glucose monitoring/insulin pump system in children and adolescents with type 1 diabetes: a 3-year follow-up study.
Scaramuzza AE, Iafusco D, Rabbone I, Bonfanti R, Lombardo F, Schiaffini R, Buono P, Toni S, Cherubini V, Zuccotti GV; Diabetes Study Group of the Italian Society of Paediatric Endocrinology and Diabetology. Scaramuzza AE, et al. Diabetes Technol Ther. 2011 Feb;13(2):99-103. doi: 10.1089/dia.2010.0119. Diabetes Technol Ther. 2011. PMID: 21284475
AIRE gene mutations and autoantibodies to interferon omega in patients with chronic hypoparathyroidism without APECED.
Cervato S, Morlin L, Albergoni MP, Masiero S, Greggio N, Meossi C, Chen S, del Pilar Larosa M, Furmaniak J, Rees Smith B, Alimohammadi M, Kämpe O, Valenzise M, Betterle C. Cervato S, et al. Among authors: meossi c. Clin Endocrinol (Oxf). 2010 Nov;73(5):630-6. doi: 10.1111/j.1365-2265.2010.03862.x. Clin Endocrinol (Oxf). 2010. PMID: 20718774
Maturity-onset diabetes of the young in children with incidental hyperglycemia: a multicenter Italian study of 172 families.
Lorini R, Klersy C, d'Annunzio G, Massa O, Minuto N, Iafusco D, Bellannè-Chantelot C, Frongia AP, Toni S, Meschi F, Cerutti F, Barbetti F; Italian Society of Pediatric Endocrinology and Diabetology (ISPED) Study Group. Lorini R, et al. Diabetes Care. 2009 Oct;32(10):1864-6. doi: 10.2337/dc08-2018. Epub 2009 Jun 29. Diabetes Care. 2009. PMID: 19564454 Free PMC article.
Prevalence of hypospadias in Italy according to severity, gestational age and birthweight: an epidemiological study.
Ghirri P, Scaramuzzo RT, Bertelloni S, Pardi D, Celandroni A, Cocchi G, Danieli R, De Santis L, Di Stefano MC, Gerola O, Giuffrè M, Gragnani GS, Magnani C, Meossi C, Merusi I, Sabatino G, Tumini S, Corsello G, Boldrini A. Ghirri P, et al. Among authors: meossi c. Ital J Pediatr. 2009 Jun 27;35:18. doi: 10.1186/1824-7288-35-18. Ital J Pediatr. 2009. PMID: 19558700 Free PMC article.
23 results