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Vascular Birthmarks as a Clue for Complex and Syndromic Vascular Anomalies.
Diociaiuti A, Paolantonio G, Zama M, Alaggio R, Carnevale C, Conforti A, Cesario C, Dentici ML, Buonuomo PS, Rollo M, El Hachem M. Diociaiuti A, et al. Among authors: cesario c. Front Pediatr. 2021 Oct 7;9:730393. doi: 10.3389/fped.2021.730393. eCollection 2021. Front Pediatr. 2021. PMID: 34692608 Free PMC article. Review.
KBG syndrome: Common and uncommon clinical features based on 31 new patients.
Gnazzo M, Lepri FR, Dentici ML, Capolino R, Pisaneschi E, Agolini E, Rinelli M, Alesi V, Versacci P, Genovese S, Cesario C, Sinibaldi L, Baban A, Bartuli A, Marino B, Cappa M, Dallapiccola B, Novelli A, Digilio MC. Gnazzo M, et al. Among authors: cesario c. Am J Med Genet A. 2020 May;182(5):1073-1083. doi: 10.1002/ajmg.a.61524. Epub 2020 Mar 3. Am J Med Genet A. 2020. PMID: 32124548
Immunofluorescence mapping, electron microscopy and genetics in the diagnosis and sub-classification of inherited epidermolysis bullosa: a single-centre retrospective comparative study of 87 cases with long-term follow-up.
Rossi S, Castiglia D, Pisaneschi E, Diociaiuti A, Stracuzzi A, Cesario C, Mariani R, Floriddia G, Zambruno G, Boldrini R, Abeni D, Novelli A, Alaggio R, El Hachem M. Rossi S, et al. Among authors: cesario c. J Eur Acad Dermatol Venereol. 2021 Apr;35(4):1007-1016. doi: 10.1111/jdv.17060. Epub 2021 Feb 5. J Eur Acad Dermatol Venereol. 2021. PMID: 33274474
Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes.
Pirozzi F, Lee B, Horsley N, Burkardt DD, Dobyns WB, Graham JM Jr, Dentici ML, Cesario C, Schallner J, Porrmann J, Di Donato N, Sanchez-Lara PA, Mirzaa GM. Pirozzi F, et al. Among authors: cesario c. Am J Med Genet A. 2021 Sep;185(9):2719-2738. doi: 10.1002/ajmg.a.62362. Epub 2021 Jun 4. Am J Med Genet A. 2021. PMID: 34087052 Free PMC article. Review.
Two new cases of nonepileptic neurodevelopmental disorder due to GRIN2B variants and detailed clinical description of the behavioral phenotype.
Buonuomo PS, Mastrogiorgio G, Alfieri P, Terracciano A, Cesario C, Rana I, Macchiaiolo M, Veronika Gonfiantini M, Vecchio D, Cristina Digilio M, Lisa Dentici M, Cumbo F, Novelli A, Bartuli A. Buonuomo PS, et al. Among authors: cesario c. Clin Dysmorphol. 2022 Apr 1;31(2):74-78. doi: 10.1097/MCD.0000000000000408. Clin Dysmorphol. 2022. PMID: 35238837 No abstract available.
44 results