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Cornelia de Lange syndrome: extending the physical and psychological phenotype.
Oliver C, Bedeschi MF, Blagowidow N, Carrico CS, Cereda A, Fitzpatrick DR, Gervasini C, Griffith GM, Kline AD, Marchisio P, Moss J, Ramos FJ, Selicorni A, Tunnicliffe P, Wierzba J, Hennekam RC. Oliver C, et al. Among authors: marchisio p. Am J Med Genet A. 2010 May;152A(5):1127-35. doi: 10.1002/ajmg.a.33363. Am J Med Genet A. 2010. PMID: 20425817 No abstract available.
Aortic dilation in Sotos syndrome: An underestimated feature?
Pezzani L, Mauri L, Selicorni A, Peron A, Grasso M, Codazzi AC, Rimini A, Marchisio PG, Coviello D, Colli A, Milani D. Pezzani L, et al. Am J Med Genet A. 2020 Jul;182(7):1819-1823. doi: 10.1002/ajmg.a.61591. Epub 2020 Apr 14. Am J Med Genet A. 2020. PMID: 32286744 No abstract available.
Familial Sleep Disorders in Unknown Genetic Syndrome.
Lelii M, Baggi E, Senatore L, Bedeschi MF, Dilena R, Iascone M, Gangi S, Marchisio P, Patria MF. Lelii M, et al. Among authors: marchisio p. J Pediatr Genet. 2020 Jun;9(2):132-136. doi: 10.1055/s-0039-1698808. Epub 2019 Oct 21. J Pediatr Genet. 2020. PMID: 32341819 Free PMC article.
Unexpected phenotype in a frameshift mutation of PTCH1.
Beltrami B, Prada E, Tolva G, Scuvera G, Silipigni R, Graziani D, Bulfamante G, Gervasini C, Marchisio P, Milani D. Beltrami B, et al. Among authors: marchisio p. Mol Genet Genomic Med. 2020 Jan;8(1):e987. doi: 10.1002/mgg3.987. Epub 2019 Oct 2. Mol Genet Genomic Med. 2020. PMID: 31578813 Free PMC article.
Olfactory Malformations in Mendelian Disorders of the Epigenetic Machinery.
Aleo S, Cinnante C, Avignone S, Prada E, Scuvera G, Ajmone PF, Selicorni A, Costantino MA, Triulzi F, Marchisio P, Gervasini C, Milani D. Aleo S, et al. Among authors: marchisio p. Front Cell Dev Biol. 2020 Aug 4;8:710. doi: 10.3389/fcell.2020.00710. eCollection 2020. Front Cell Dev Biol. 2020. PMID: 32850830 Free PMC article.
499 results