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

Year Number of Results
2002 2
2003 2
2004 2
2005 2
2006 2
2007 3
2008 2
2009 4
2010 4
2011 4
2012 5
2013 5
2014 4
2015 6
2016 9
2017 9
2018 5
2019 11
2020 12
2021 18
2022 12
2023 13
2024 5

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121 results

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Page 1
Adolescent gender dysphoria management: position paper from the Italian Academy of Pediatrics, the Italian Society of Pediatrics, the Italian Society for Pediatric Endocrinology and Diabetes, the Italian Society of Adolescent Medicine and the Italian Society of Child and Adolescent Neuropsychiatry.
Calcaterra V, Tornese G, Zuccotti G, Staiano A, Cherubini V, Gaudino R, Fazzi EM, Barbi E, Chiarelli F, Corsello G, Esposito SMR, Ferrara P, Iughetti L, Laforgia N, Maghnie M, Marseglia G, Perilongo G, Pettoello-Mantovani M, Ruggieri M, Russo G, Salerno M, Striano P, Valerio G, Wasniewska M; Italian Academy of Pediatrics, Italian Society of Pediatrics, Italian Society for Pediatric Endocrinology and Diabetes, Italian Society of Adolescent Medicine, Italian Society of Child and Adolescent Neuropsychiatry. Calcaterra V, et al. Ital J Pediatr. 2024 Apr 18;50(1):73. doi: 10.1186/s13052-024-01644-7. Ital J Pediatr. 2024. PMID: 38637868 Free PMC article.
Identification of the DNA methylation signature of Mowat-Wilson syndrome.
Caraffi SG, van der Laan L, Rooney K, Trajkova S, Zuntini R, Relator R, Haghshenas S, Levy MA, Baldo C, Mandrile G, Lauzon C, Cordelli DM, Ivanovski I, Fetta A, Sukarova E, Brusco A, Pavinato L, Pullano V, Zollino M, McConkey H, Tartaglia M, Ferrero GB, Sadikovic B, Garavelli L. Caraffi SG, et al. Among authors: ferrero gb. Eur J Hum Genet. 2024 Feb 13. doi: 10.1038/s41431-024-01548-4. Online ahead of print. Eur J Hum Genet. 2024. PMID: 38351292
'Phenoconversion' in adult patients with β-thalassemia.
Musallam KM, Barella S, Origa R, Ferrero GB, Lisi R, Pasanisi A, Longo F, Gianesin B, Forni GL; Webthal® project. Musallam KM, et al. Among authors: ferrero gb. Am J Hematol. 2024 Mar;99(3):490-493. doi: 10.1002/ajh.27194. Epub 2024 Jan 2. Am J Hematol. 2024. PMID: 38165006
Work-Up and Treatment Strategies for Individuals with PIK3CA-Related Disorders: A Consensus of Experts from the Scientific Committee of the Italian Macrodactyly and PROS Association.
Gazzin A, Leoni C, Viscogliosi G, Borgini F, Perri L, Iacoviello M, Piglionica M, De Pellegrin M, Ferrero GB, Bartuli A, Zampino G, Buonuomo PS, Resta N, Mussa A; Italian Macrodactyly and PROS Association. Gazzin A, et al. Among authors: ferrero gb. Genes (Basel). 2023 Nov 27;14(12):2134. doi: 10.3390/genes14122134. Genes (Basel). 2023. PMID: 38136956 Free PMC article.
Author Correction: Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation.
Melo US, Jatzlau J, Prada-Medina CA, Flex E, Hartmann S, Ali S, Schöpflin R, Bernardini L, Ciolfi A, Moeinzadeh MH, Klever MK, Altay A, Vallecillo-García P, Carpentieri G, Delledonne M, Ort MJ, Schwestka M, Ferrero GB, Tartaglia M, Brusco A, Gossen M, Strunk D, Geißler S, Mundlos S, Stricker S, Knaus P, Giorgio E, Spielmann M. Melo US, et al. Among authors: ferrero gb. Nat Commun. 2023 Oct 9;14(1):6301. doi: 10.1038/s41467-023-42123-7. Nat Commun. 2023. PMID: 37813867 Free PMC article. No abstract available.
Electroclinical Features of Epilepsy in Kleefstra Syndrome.
Giacomini T, Cordani R, Bagnasco I, Vercellino F, Giordano L, Milito G, Ferrero GB, Mandrile G, Scala M, Meli M, Falsaperla R, Luria G, De Grandis E, Canale E, Amadori E, Striano P, Nobili L, Siri L. Giacomini T, et al. Among authors: ferrero gb. Neuropediatrics. 2023 Dec;54(6):433-438. doi: 10.1055/s-0043-1775977. Epub 2023 Oct 6. Neuropediatrics. 2023. PMID: 37802085
Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder.
Pavinato L, Stanic J, Barzasi M, Gurgone A, Chiantia G, Cipriani V, Eberini I, Palazzolo L, Di Luca M, Costa A, Marcantoni A, Biamino E, Spada M, Hiatt SM, Kelley WV, Vestito L, Sisodiya SM; Genomics England Research Consortium; Efthymiou S, Chand P, Kaiyrzhanov R, Bruselles A, Cardaropoli S, Tartaglia M, De Rubeis S, Buxbaum JD, Smedley D, Ferrero GB, Giustetto M, Gardoni F, Brusco A. Pavinato L, et al. Among authors: ferrero gb. Genet Med. 2023 Nov;25(11):100922. doi: 10.1016/j.gim.2023.100922. Epub 2023 Jul 1. Genet Med. 2023. PMID: 37403762 Free article.
Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder.
Blackburn PR, Ebstein F, Hsieh TC, Motta M, Radio FC, Herkert JC, Rinne T, Thiffault I, Rapp M, Alders M, Maas S, Gerard B, Smol T, Vincent-Delorme C, Cogné B, Isidor B, Vincent M, Bachmann-Gagescu R, Rauch A, Joset P, Ferrero GB, Ciolfi A, Husson T, Guerrot AM, Bacino C, Macmurdo C, Thompson SS, Rosenfeld JA, Faivre L, Mau-Them FT, Deb W, Vignard V, Agrawal PB, Madden JA, Goldenberg A, Lecoquierre F, Zech M, Prokisch H, Necpál J, Jech R, Winkelmann J, Koprušáková MT, Konstantopoulou V, Younce JR, Shinawi M, Mighton C, Fung C, Morel C, Ellis JL, DiTroia S, Barth M, Bonneau D, Krapels I, Stegmann S, van der Schoot V, Brunet T, Bußmann C, Mignot C, Courtin T, Ravelli C, Keren B, Ziegler A, Hasadsri L, Pichurin PN, Klee EW, Grand K, Sanchez-Lara PA, Krüger E, Bézieau S, Klinkhammer H, Krawitz PM, Eichler EE, Tartaglia M, Küry S, Wang T. Blackburn PR, et al. Among authors: ferrero gb. medRxiv [Preprint]. 2023 Jun 16:2023.06.13.23290941. doi: 10.1101/2023.06.13.23290941. medRxiv. 2023. PMID: 37398376 Free PMC article. Preprint.
121 results