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Page 1
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. Clin Genet. 2024 Mar;105(3):313-316. doi: 10.1111/cge.14455. Epub 2023 Nov 22. Clin Genet. 2024. PMID: 37990933 Free article.
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.
Rinaldi B, Bayat A, Zachariassen LG, Sun JH, Ge YH, Zhao D, Bonde K, Madsen LH, Awad IAA, Bagiran D, Sbeih A, Shah SM, El-Sayed S, Lyngby SM, Pedersen MG, Stenum-Berg C, Walker LC, Krey I, Delahaye-Duriez A, Emrick LT, Sully K, Murali CN, Burrage LC, Plaud Gonzalez JA, Parnes M, Friedman J, Isidor B, Lefranc J, Redon S, Heron D, Mignot C, Keren B, Fradin M, Dubourg C, Mercier S, Besnard T, Cogne B, Deb W, Rivier C, Milani D, Bedeschi MF, Di Napoli C, Grilli F, Marchisio P, Koudijs S, Veenma D, Argilli E, Lynch SA, Au PYB, Ayala Valenzuela FE, Brown C, Masser-Frye D, Jones M, Patron Romero L, Li WL, Thorpe E, Hecher L, Johannsen J, Denecke J, McNiven V, Szuto A, Wakeling E, Cruz V, Sency V, Wang H, Piard J, Kortüm F, Herget T, Bierhals T, Condell A, Ben-Zeev B, Kaur S, Christodoulou J, Piton A, Zweier C, Kraus C, Micalizzi A, Trivisano M, Specchio N, Lesca G, Møller RS, Tümer Z, Musgaard M, Gerard B, Lemke JR, Shi YS, Kristensen AS. Rinaldi B, et al. Among authors: marchisio p. Brain. 2024 May 3;147(5):1837-1855. doi: 10.1093/brain/awad403. Brain. 2024. PMID: 38038360 Free PMC article.
Viral Codetection and Clinical Outcomes of Infants Hospitalized With Bronchiolitis: A Multicenter Cohort Study.
Milani GP, Ronchi A, Agostoni C, Marchisio P, Chidini G, Pesenti N, Bellotti AS, Cugliari M, Crimi R, Fabiano V, Pietrasanta C, Pugni L, Mosca F; IRIDE Study Group listed in the Appendix. Milani GP, et al. Among authors: marchisio p. Pediatr Infect Dis J. 2025 Feb 3. doi: 10.1097/INF.0000000000004738. Online ahead of print. Pediatr Infect Dis J. 2025. PMID: 39898632
Deodorant Spray-Induced Cold Burns: A Case of Child Abuse.
Guez S, Tambuzzi S, Barbara G, Micci LG, Marchisio P, Somigliana E, Candia DDI, Cattaneo C, Cavalli R. Guez S, et al. Among authors: marchisio p. Pediatr Dermatol. 2024 Dec 16. doi: 10.1111/pde.15847. Online ahead of print. Pediatr Dermatol. 2024. PMID: 39682038
Prevalence and predictors of parental distress at the communication of positivity at newborn screening for metabolic diseases: an Italian longitudinal study.
Bani M, Russo S, Gasperini S, Crescitelli V, Menni F, Furlan F, Tagliaferri F, Cefalo G, Paci S, Banderali G, Marchisio P, Biondi A, Strepparava MG. Bani M, et al. Among authors: marchisio p. BMJ Paediatr Open. 2024 Dec 12;8(1):e003103. doi: 10.1136/bmjpo-2024-003103. BMJ Paediatr Open. 2024. PMID: 39667953 Free PMC article.
Looks Can Be Deceiving: Diagnostic Power of Exome Sequencing in Debunking 15q11.2 Copy Number Variations.
Meossi C, Carrer A, Ciaccio C, Pezzoli L, Pezzani L, Silipigni RM, Sciacca FL, Tenconi R, Esposito S, De Laurentiis A, Pantaleoni C, Marchisio P, Natacci F, D'Arrigo S, Iascone M, Milani D. Meossi C, et al. Among authors: marchisio p. Genes (Basel). 2024 Nov 7;15(11):1441. doi: 10.3390/genes15111441. Genes (Basel). 2024. PMID: 39596641 Free PMC article.
Paracetamol and ibuprofen fixed-dose combination for the management of acute mild-to-moderate pain in children: strengthening and enhancing of result of Nominal Group Technique through Delphi consensus.
Castagno E, Parri N, D'Avino A, Ferrari E, Marchisio PG, Messia V, Taglialatela M, Staiano A. Castagno E, et al. Among authors: marchisio pg. Ital J Pediatr. 2024 Oct 29;50(1):223. doi: 10.1186/s13052-024-01791-x. Ital J Pediatr. 2024. PMID: 39468653 Free PMC article.
512 results