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Mystery(n) Phenotypic Presentation in Europeans: Report of Three Further Novel Missense RNF213 Variants Leading to Severe Syndromic Forms of Moyamoya Angiopathy and Literature Review.
Santoro C, Mirone G, Zanobio M, Ranucci G, D'Amico A, Cicala D, Iascone M, Bernardo P, Piccolo V, Ronchi A, Limongelli G, Carotenuto M, Nigro V, Cinalli G, Piluso G. Santoro C, et al. Int J Mol Sci. 2022 Aug 11;23(16):8952. doi: 10.3390/ijms23168952. Int J Mol Sci. 2022. PMID: 36012218 Free PMC article. Review.
Moyamoya syndrome in children with neurofibromatosis type 1: Italian-French experience.
Santoro C, Di Rocco F, Kossorotoff M, Zerah M, Boddaert N, Calmon R, Vidaud D, Cirillo M, Cinalli G, Mirone G, Giugliano T, Piluso G, D'Amico A, Capra V, Pavanello M, Cama A, Nobili B, Lyonnet S, Perrotta S. Santoro C, et al. Am J Med Genet A. 2017 Jun;173(6):1521-1530. doi: 10.1002/ajmg.a.38212. Epub 2017 Apr 19. Am J Med Genet A. 2017. PMID: 28422438
An extremely severe phenotype attributed to WDR81 nonsense mutations.
Cappuccio G, Pinelli M, Torella A, Vitiello G, D'Amico A, Alagia M, Del Giudice E, Nigro V; TUDP; Brunetti-Pierri N. Cappuccio G, et al. Ann Neurol. 2017 Oct;82(4):650-651. doi: 10.1002/ana.25058. Ann Neurol. 2017. PMID: 28972664 No abstract available.
Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females.
Scala M, Torella A, Severino M, Morana G, Castello R, Accogli A, Verrico A, Vari MS, Cappuccio G, Pinelli M, Vitiello G, Terrone G, D'Amico A; TUDP consortium; Nigro V, Capra V. Scala M, et al. Eur J Hum Genet. 2019 Aug;27(8):1254-1259. doi: 10.1038/s41431-019-0392-7. Epub 2019 Apr 1. Eur J Hum Genet. 2019. PMID: 30936465 Free PMC article.
Expansion of the phenotype of lateral meningocele syndrome.
Cappuccio G, Apuzzo D, Alagia M, Torella A, Pinelli M, Franco B, Corrado B, Del Giudice E, D'Amico A, Nigro V; TUDP; Brunetti-Pierri N. Cappuccio G, et al. Am J Med Genet A. 2020 May;182(5):1259-1262. doi: 10.1002/ajmg.a.61536. Epub 2020 Mar 6. Am J Med Genet A. 2020. PMID: 32141180 Free PMC article.
1,301 results