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2011 1
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Page 1
Spectrum of ERCC6-Related Cockayne Syndrome (Type B): From Mild to Severe Forms.
Sartorelli J, Travaglini L, Macchiaiolo M, Garone G, Gonfiantini MV, Vecchio D, Sinibaldi L, Frascarelli F, Ceccatelli V, Petrillo S, Piemonte F, Piccolo G, Novelli A, Longo D, Pro S, D'Amico A, Bertini ES, Nicita F. Sartorelli J, et al. Among authors: bertini es. Genes (Basel). 2024 Apr 18;15(4):508. doi: 10.3390/genes15040508. Genes (Basel). 2024. PMID: 38674442 Free PMC article.
Titin copy number variations associated with dominant inherited phenotypes.
Perrin A, Métay C, Savarese M, Ben Yaou R, Demidov G, Nelson I, Solé G, Péréon Y, Bertini ES, Fattori F, D'Amico A, Ricci F, Ginsberg M, Seferian A, Boespflug-Tanguy O, Servais L, Chapon F, Lagrange E, Gaudon K, Bloch A, Ghanem R, Guyant-Maréchal L, Johari M, Van Goethem C, Fardeau M, Morales RJ, Genetti CA, Marttila M, Koenig M, Beggs AH, Udd B, Bonne G, Cossée M. Perrin A, et al. Among authors: bertini es. J Med Genet. 2024 Mar 21;61(4):369-377. doi: 10.1136/jmg-2023-109473. J Med Genet. 2024. PMID: 37935568
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: bertini es. 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.
Whole genome sequencing diagnostic yield for paediatric patients with suspected genetic disorders: systematic review, meta-analysis, and GRADE assessment.
Nurchis MC, Altamura G, Riccardi MT, Radio FC, Chillemi G, Bertini ES, Garlasco J, Tartaglia M, Dallapiccola B, Damiani G. Nurchis MC, et al. Among authors: bertini es. Arch Public Health. 2023 May 25;81(1):93. doi: 10.1186/s13690-023-01112-4. Arch Public Health. 2023. PMID: 37231492 Free PMC article.
Upper Limb Changes in DMD Patients Amenable to Skipping Exons 44, 45, 51 and 53: A 24-Month Study.
Brogna C, Pane M, Coratti G, D'Amico A, Pegoraro E, Bello L, Sansone VAM, Albamonte E, Messina S, Pini A, D'Angelo MG, Bruno C, Mongini T, Ricci FS, Berardinelli A, Battini R, Masson R, Bertini ES, Politano L, Mercuri E, Italian Dmd Group. Brogna C, et al. Among authors: bertini es. Children (Basel). 2023 Apr 19;10(4):746. doi: 10.3390/children10040746. Children (Basel). 2023. PMID: 37189996 Free PMC article.
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome.
Serpieri V, Mortarini G, Loucks H, Biagini T, Micalizzi A, Palmieri I, Dempsey JC, D'Abrusco F, Mazzotta C, Battini R, Bertini ES, Boltshauser E, Borgatti R, Brockmann K, D'Arrigo S, Nardocci N, Fischetto R, Agolini E, Novelli A, Romano A, Romaniello R, Stanzial F, Signorini S, Strisciuglio P, Gana S, Mazza T, Doherty D, Valente EM. Serpieri V, et al. Among authors: bertini es. J Med Genet. 2023 Sep;60(9):885-893. doi: 10.1136/jmg-2022-108725. Epub 2023 Feb 14. J Med Genet. 2023. PMID: 36788019 Free PMC article.
Expanding the natural history of CASK-related disorders to the prenatal period.
Gafner M, Boltshauser E, D'Abrusco F, Battini R, Romaniello R, D'Arrigo S, Zanni G, Leibovitz Z, Yosovich K, Lerman-Sagie T; Cask Study Group*. Gafner M, et al. Dev Med Child Neurol. 2023 Apr;65(4):544-550. doi: 10.1111/dmcn.15419. Epub 2022 Sep 29. Dev Med Child Neurol. 2023. PMID: 36175354 Free article.
39 results