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Altered Expression of Candidate Genes in Mayer-Rokitansky-Küster-Hauser Syndrome May Influence Vaginal Keratinocytes Biology: A Focus on Protein Kinase X.
Pontecorvi P, Megiorni F, Camero S, Ceccarelli S, Bernardini L, Capalbo A, Anastasiadou E, Gerini G, Messina E, Perniola G, Benedetti Panici P, Grammatico P, Pizzuti A, Marchese C. Pontecorvi P, et al. Among authors: grammatico p. Biology (Basel). 2021 May 21;10(6):450. doi: 10.3390/biology10060450. Biology (Basel). 2021. PMID: 34063745 Free PMC article.
Syndromic true hermaphroditism due to an R-spondin1 (RSPO1) homozygous mutation.
Tomaselli S, Megiorni F, De Bernardo C, Felici A, Marrocco G, Maggiulli G, Grammatico B, Remotti D, Saccucci P, Valentini F, Mazzilli MC, Majore S, Grammatico P. Tomaselli S, et al. Among authors: grammatico p, grammatico b. Hum Mutat. 2008 Feb;29(2):220-6. doi: 10.1002/humu.20665. Hum Mutat. 2008. PMID: 18085567
Complex multipathways alterations and oxidative stress are associated with Hailey-Hailey disease.
Cialfi S, Oliviero C, Ceccarelli S, Marchese C, Barbieri L, Biolcati G, Uccelletti D, Palleschi C, Barboni L, De Bernardo C, Grammatico P, Magrelli A, Salvatore M, Taruscio D, Frati L, Gulino A, Screpanti I, Talora C. Cialfi S, et al. Among authors: grammatico p. Br J Dermatol. 2010 Mar;162(3):518-26. doi: 10.1111/j.1365-2133.2009.09500.x. Epub 2009 Nov 9. Br J Dermatol. 2010. PMID: 19903178
Novel SMAD4 mutation causing Myhre syndrome.
Caputo V, Bocchinfuso G, Castori M, Traversa A, Pizzuti A, Stella L, Grammatico P, Tartaglia M. Caputo V, et al. Among authors: grammatico p. Am J Med Genet A. 2014 Jul;164A(7):1835-40. doi: 10.1002/ajmg.a.36544. Epub 2014 Apr 8. Am J Med Genet A. 2014. PMID: 24715504
Oropharyngeal teratoma, oral duplication, cervical diplomyelia and anencephaly in a 22-week fetus: A review of the craniofacial teratoma syndrome.
Morlino S, Castori M, Servadei F, Laino L, Silvestri E; Pediatric Craniofacial Malformation (PECRAM) Study Group; Grammatico P. Morlino S, et al. Among authors: grammatico p. Birth Defects Res A Clin Mol Teratol. 2015 Jun;103(6):554-66. doi: 10.1002/bdra.23327. Epub 2014 Oct 31. Birth Defects Res A Clin Mol Teratol. 2015. PMID: 25360518 Review.
245 results