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

Year Number of Results
2002 1
2003 2
2004 1
2005 1
2006 1
2008 2
2009 1
2010 1
2013 1
2014 1
2015 3
2018 1
2019 2
2020 4
2021 7
2022 5
2023 4
2024 0

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35 results

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Page 1
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.
Morleo M, Venditti R, Theodorou E, Briere LC, Rosello M, Tirozzi A, Tammaro R, Al-Badri N, High FA, Shi J; Undiagnosed Diseases Network; Telethon Undiagnosed Diseases Program; Putti E, Ferrante L, Cetrangolo V, Torella A, Walker MA, Tenconi R, Iascone M, Mei D, Guerrini R, van der Smagt J, Kroes HY, van Gassen KLI, Bilal M, Umair M, Pingault V, Attie-Bitach T, Amiel J, Ejaz R, Rodan L, Zollino M, Agrawal PB, Del Bene F, Nigro V, Sweetser DA, Franco B. Morleo M, et al. Am J Hum Genet. 2023 Aug 3;110(8):1377-1393. doi: 10.1016/j.ajhg.2023.06.012. Epub 2023 Jul 13. Am J Hum Genet. 2023. PMID: 37451268 Free PMC article.
CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories.
Amenta S, Marangi G, Orteschi D, Frangella S, Gurrieri F, Paccagnella E; Telethon Undiagnosed Diseases Program (TUDP) Study Group; Scala M, Romano F, Capra V, Nigro V, Zollino M. Amenta S, et al. Eur J Hum Genet. 2023 Jun;31(6):648-653. doi: 10.1038/s41431-023-01305-z. Epub 2023 Feb 16. Eur J Hum Genet. 2023. PMID: 36797464 Review.
Scurvy in childhood: do not forget it.
Sabbatino MS, DE Seta F, DE Brasi D, Santoro C, Esposito F, Siani P. Sabbatino MS, et al. Among authors: de brasi d. Minerva Pediatr (Torino). 2022 Jun;74(3):378-380. doi: 10.23736/S2724-5276.20.05586-3. Epub 2020 Jul 7. Minerva Pediatr (Torino). 2022. PMID: 32639115 No abstract available.
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes.
Scala M, Nishikawa M, Ito H, Tabata H, Khan T, Accogli A, Davids L, Ruiz A, Chiurazzi P, Cericola G, Schulte B, Monaghan KG, Begtrup A, Torella A, Pinelli M, Denommé-Pichon AS, Vitobello A, Racine C, Mancardi MM, Kiss C, Guerin A, Wu W, Gabau Vila E, Mak BC, Martinez-Agosto JA, Gorin MB, Duz B, Bayram Y, Carvalho CMB, Vengoechea JE, Chitayat D, Tan TY, Callewaert B, Kruse B, Bird LM, Faivre L, Zollino M, Biskup S; Undiagnosed Diseases Network; Telethon Undiagnosed Diseases Program; Striano P, Nigro V, Severino M, Capra V, Costain G, Nagata KI. Scala M, et al. Brain. 2022 Sep 14;145(9):3308-3327. doi: 10.1093/brain/awac106. Brain. 2022. PMID: 35851598 Free PMC article.
Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature.
Di Candia F, Fontana P, Paglia P, Falco M, Rosano C, Piscopo C, Cappuccio G, Siano MA, De Brasi D, Mandato C, De Maggio I, Squeo GM, Monica MD, Scarano G, Lonardo F, Strisciuglio P, Merla G, Melis D. Di Candia F, et al. Among authors: de brasi d. Eur J Pediatr. 2022 Jan;181(1):171-187. doi: 10.1007/s00431-021-04108-w. Epub 2021 Jul 7. Eur J Pediatr. 2022. PMID: 34232366 Free PMC article. Review.
Systemic Cat-Scratch Disease: a "Troublesome" Diagnosis.
Sarno M, Rosanio FM, De Brasi D, Santoro C, Lo Vecchio A, Esposito F, Siani P, Vajro P, Mandato C. Sarno M, et al. Among authors: de brasi d. Pediatr Infect Dis J. 2021 Mar 1;40(3):e117-e119. doi: 10.1097/INF.0000000000002996. Pediatr Infect Dis J. 2021. PMID: 33230057
Fibrodysplasia Ossificans Progressiva: A Challenging Diagnosis.
De Brasi D, Orlando F, Gaeta V, De Liso M, Acquaviva F, Martemucci L, Mastrominico A, Di Rocco M. De Brasi D, et al. Genes (Basel). 2021 Jul 30;12(8):1187. doi: 10.3390/genes12081187. Genes (Basel). 2021. PMID: 34440363 Free PMC article.
Unbalanced translocation (3;5)(q26.1;p14): a clinical report.
Rossi M, Di Micco P, Perone L, De Brasi D, Guzzetta V, Andreucci MV, Vega GR, Marzano MG, Iaccarino E, Andria G. Rossi M, et al. Among authors: de brasi d. Am J Med Genet. 2002 Jul 15;110(4):353-8. doi: 10.1002/ajmg.10440. Am J Med Genet. 2002. PMID: 12116209 Review.
Co-occurrence of Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type 1B: coincidence or common molecular mechanism?
Pignata L, Cecere F, Acquaviva F, D'Angelo E, Cioffi D, Pellino V, Palumbo O, Palumbo P, Carella M, Sparago A, De Brasi D, Cerrato F, Riccio A. Pignata L, et al. Among authors: de brasi d. Front Cell Dev Biol. 2023 Aug 10;11:1237629. doi: 10.3389/fcell.2023.1237629. eCollection 2023. Front Cell Dev Biol. 2023. PMID: 37635873 Free PMC article.
35 results