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Year Number of Results
2014 2
2015 2
2016 1
2017 1
2018 3
2019 4
2020 4
2021 7
2022 3
2023 5
2024 1

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27 results

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Page 1
Epilepsy in KBG syndrome.
Auconi M, Serino D, Digilio MC, Gnazzo M, Conti M, Vigevano F, Fusco L. Auconi M, et al. Among authors: gnazzo m. Dev Med Child Neurol. 2023 May;65(5):712-720. doi: 10.1111/dmcn.15428. Epub 2022 Oct 4. Dev Med Child Neurol. 2023. PMID: 36196002
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature.
Peluso F, Caraffi SG, Contrò G, Valeri L, Napoli M, Carboni G, Seth A, Zuntini R, Coccia E, Astrea G, Bisgaard AM, Ivanovski I, Maitz S, Brischoux-Boucher E, Carter MT, Dentici ML, Devriendt K, Bellini M, Digilio MC, Doja A, Dyment DA, Farholt S, Ferreira CR, Wolfe LA, Gahl WA, Gnazzo M, Goel H, Grønborg SW, Hammer T, Iughetti L, Kleefstra T, Koolen DA, Lepri FR, Lemire G, Louro P, McCullagh G, Madeo SF, Milone A, Milone R, Nielsen JEK, Novelli A, Ockeloen CW, Pascarella R, Pippucci T, Ricca I, Robertson SP, Sawyer S, Falkenberg Smeland M, Stegmann S, Stumpel CT, Goel A, Taylor JM, Barbuti D, Soresina A, Bedeschi MF, Battini R, Cavalli A, Fusco C, Iascone M, Van Maldergem L, Venkateswaran S, Zuffardi O, Vergano S, Garavelli L, Bayat A. Peluso F, et al. Among authors: gnazzo m. J Med Genet. 2023 Nov 27;60(12):1224-1234. doi: 10.1136/jmg-2023-109141. J Med Genet. 2023. PMID: 37586838 Free PMC article. Review.
Kabuki syndrome: clinical and molecular diagnosis in the first year of life.
Dentici ML, Di Pede A, Lepri FR, Gnazzo M, Lombardi MH, Auriti C, Petrocchi S, Pisaneschi E, Bellacchio E, Capolino R, Braguglia A, Angioni A, Dotta A, Digilio MC, Dallapiccola B. Dentici ML, et al. Among authors: gnazzo m. Arch Dis Child. 2015 Feb;100(2):158-64. doi: 10.1136/archdischild-2013-305858. Epub 2014 Oct 3. Arch Dis Child. 2015. PMID: 25281733 Review.
Congenital heart defects in molecularly confirmed KBG syndrome patients.
Digilio MC, Calcagni G, Gnazzo M, Versacci P, Dentici ML, Capolino R, Sinibaldi L, Baban A, Putotto C, Alfieri P, Unolt M, Lepri FR, Alesi V, Genovese S, Novelli A, Marino B, Dallapiccola B. Digilio MC, et al. Among authors: gnazzo m. Am J Med Genet A. 2022 Apr;188(4):1149-1159. doi: 10.1002/ajmg.a.62632. Epub 2021 Dec 31. Am J Med Genet A. 2022. PMID: 34971082
Biallelic truncating variants in children with titinopathy represent a recognizable condition with distinctive muscular and cardiac characteristics: a report on five patients.
Baban A, Cicenia M, Magliozzi M, Parlapiano G, Cirillo M, Pascolini G, Fattori F, Gnazzo M, Bruno P, De Luca L, Di Chiara L, Francalanci P, Udd B, Secinaro A, Amodeo A, Bertini ES, Savarese M, Drago F, Novelli A. Baban A, et al. Among authors: gnazzo m. Front Cardiovasc Med. 2023 Jul 27;10:1210378. doi: 10.3389/fcvm.2023.1210378. eCollection 2023. Front Cardiovasc Med. 2023. PMID: 37576110 Free PMC article.
Autosomal Recessive Long QT Syndrome: Clinical Aspects and Therapy.
Righi D, Porco L, Di Mambro C, Gnazzo M, Baban A, Paglia S, Silvetti MS, Novelli A, Tozzi AE, Drago F. Righi D, et al. Among authors: gnazzo m. Pediatr Cardiol. 2023 Dec;44(8):1736-1740. doi: 10.1007/s00246-023-03266-y. Epub 2023 Aug 19. Pediatr Cardiol. 2023. PMID: 37597120
Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2.
Faundes V, Goh S, Akilapa R, Bezuidenhout H, Bjornsson HT, Bradley L, Brady AF, Brischoux-Boucher E, Brunner H, Bulk S, Canham N, Cody D, Dentici ML, Digilio MC, Elmslie F, Fry AE, Gill H, Hurst J, Johnson D, Julia S, Lachlan K, Lebel RR, Byler M, Gershon E, Lemire E, Gnazzo M, Lepri FR, Marchese A, McEntagart M, McGaughran J, Mizuno S, Okamoto N, Rieubland C, Rodgers J, Sasaki E, Scalais E, Scurr I, Suri M, van der Burgt I, Matsumoto N, Miyake N, Benoit V, Lederer D, Banka S. Faundes V, et al. Among authors: gnazzo m. Genet Med. 2021 Jul;23(7):1202-1210. doi: 10.1038/s41436-021-01119-8. Epub 2021 Mar 5. Genet Med. 2021. PMID: 33674768 Free PMC article.
27 results