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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. Among authors: grilli f. Clin Genet. 2024 Mar;105(3):313-316. doi: 10.1111/cge.14455. Epub 2023 Nov 22. Clin Genet. 2024. PMID: 37990933 Free article.
Pitfalls of whole exome sequencing in undefined clinical conditions with a suspected genetic etiology.
Moresco G, Rondinone O, Mauri A, Costanza J, Santaniello C, Colapietro P, Micaglio E, Marfia G, Pesenti C, Grilli F, Rinaldi B, Prada E, Scuvera G, Villa R, Bedeschi MF, Miozzo MR, Milani D, Fontana L. Moresco G, et al. Among authors: grilli f. Genes Genomics. 2023 May;45(5):637-655. doi: 10.1007/s13258-022-01341-x. Epub 2022 Dec 1. Genes Genomics. 2023. PMID: 36454368
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: grilli f. Brain. 2024 May 3;147(5):1837-1855. doi: 10.1093/brain/awad403. Brain. 2024. PMID: 38038360 Free PMC article.
A long way to syndromic short stature.
Gaudioso F, Meossi C, Pezzani L, Grilli F, Silipigni R, Russo S, Masciadri M, Vimercati A, Marchisio PG, Bedeschi MF, Milani D. Gaudioso F, et al. Among authors: grilli f. Ital J Pediatr. 2024 Sep 27;50(1):192. doi: 10.1186/s13052-024-01737-3. Ital J Pediatr. 2024. PMID: 39334216 Free PMC article.
Optical coherence tomography angiography findings in Williams-Beuren syndrome.
Nassisi M, Mainetti C, Sperti A, Galmozzi G, Aretti A, Leone G, Nicotra V, Grilli F, Rinaldi B, Natacci F, Bedeschi MF, Viola F. Nassisi M, et al. Among authors: grilli f. Graefes Arch Clin Exp Ophthalmol. 2024 Apr;262(4):1131-1140. doi: 10.1007/s00417-023-06323-7. Epub 2023 Nov 30. Graefes Arch Clin Exp Ophthalmol. 2024. PMID: 38032380 Free article.
Hyperostotic meningiomas in children. A case-based update.
Grilli F, Smaili HY, Bianchi F, Frassanito P, Tamburrini G, Massimi L. Grilli F, et al. Childs Nerv Syst. 2024 Dec 11;41(1):43. doi: 10.1007/s00381-024-06708-x. Childs Nerv Syst. 2024. PMID: 39661177 Review.
Abnormal electromyographical trigeminal activation through stimulation of the offending artery (Z-L response): An intraoperative tool during microvascular decompression for trigeminal neuralgia.
Montano N, D'Alessandris QG, Grilli F, Di Domenico M, Martinelli R, Burattini B, Izzo A, D'Ercole M, Olivi A. Montano N, et al. Among authors: grilli f. Cephalalgia. 2024 Nov;44(11):3331024241273913. doi: 10.1177/03331024241273913. Cephalalgia. 2024. PMID: 39491821 Free article.
50 results