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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1987 1
1991 2
1992 2
1993 3
1995 1
1997 2
2003 1
2005 1
2009 1
2010 1
2022 1
2023 3
2024 4

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21 results

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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 21;61(6):503-519. doi: 10.1136/jmg-2023-109438. J Med Genet. 2024. PMID: 38471765 Free PMC article. Review.
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.
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 Free article.
[Syncopal pathology in childhood (I)].
Castelli S, Domenici R, Meossi C. Castelli S, et al. Among authors: meossi c. Pediatr Med Chir. 1997 May-Jun;19(3):165-73. Pediatr Med Chir. 1997. PMID: 9340606 Review. Italian.
[Syncopal pathology in childhood (II)].
Castelli S, Domenici R, Meossi C. Castelli S, et al. Among authors: meossi c. Pediatr Med Chir. 1997 May-Jun;19(3):175-82. Pediatr Med Chir. 1997. PMID: 9290132 Review. Italian. No abstract available.
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
21 results