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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 1
2006 1
2007 2
2009 1
2010 2
2011 1
2012 2
2013 1
2014 1
2015 2
2020 1
2021 1
2022 1
2024 0

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14 results

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Page 1
DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies.
Kerkhof J, Squeo GM, McConkey H, Levy MA, Piemontese MR, Castori M, Accadia M, Biamino E, Della Monica M, Di Giacomo MC, Gervasini C, Maitz S, Melis D, Milani D, Piccione M, Prontera P, Selicorni A, Sadikovic B, Merla G. Kerkhof J, et al. Among authors: piemontese mr. Genet Med. 2022 Jan;24(1):51-60. doi: 10.1016/j.gim.2021.08.007. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906459 Free article.
The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study.
Neri M, Rossi R, Trabanelli C, Mauro A, Selvatici R, Falzarano MS, Spedicato N, Margutti A, Rimessi P, Fortunato F, Fabris M, Gualandi F, Comi G, Tedeschi S, Seia M, Fiorillo C, Traverso M, Bruno C, Giardina E, Piemontese MR, Merla G, Cau M, Marica M, Scuderi C, Borgione E, Tessa A, Astrea G, Santorelli FM, Merlini L, Mora M, Bernasconi P, Gibertini S, Sansone V, Mongini T, Berardinelli A, Pini A, Liguori R, Filosto M, Messina S, Vita G, Toscano A, Vita G, Pane M, Servidei S, Pegoraro E, Bello L, Travaglini L, Bertini E, D'Amico A, Ergoli M, Politano L, Torella A, Nigro V, Mercuri E, Ferlini A. Neri M, et al. Among authors: piemontese mr. Front Genet. 2020 Mar 3;11:131. doi: 10.3389/fgene.2020.00131. eCollection 2020. Front Genet. 2020. PMID: 32194622 Free PMC article.
Ehlers-Danlos syndrome versus cleidocranial dysplasia.
Bedeschi MF, Bonarrigo F, Manzoni F, Milani D, Piemontese MR, Guez S, Esposito S. Bedeschi MF, et al. Among authors: piemontese mr. Ital J Pediatr. 2014 May 24;40:49. doi: 10.1186/1824-7288-40-49. Ital J Pediatr. 2014. PMID: 24887404 Free PMC article. No abstract available.
Sedlin controls the ER export of procollagen by regulating the Sar1 cycle.
Venditti R, Scanu T, Santoro M, Di Tullio G, Spaar A, Gaibisso R, Beznoussenko GV, Mironov AA, Mironov A Jr, Zelante L, Piemontese MR, Notarangelo A, Malhotra V, Vertel BM, Wilson C, De Matteis MA. Venditti R, et al. Among authors: piemontese mr. Science. 2012 Sep 28;337(6102):1668-72. doi: 10.1126/science.1224947. Science. 2012. PMID: 23019651 Free PMC article.
HOXA1 gene variants influence head growth rates in humans.
Muscarella LA, Guarnieri V, Sacco R, Militerni R, Bravaccio C, Trillo S, Schneider C, Melmed R, Elia M, Mascia ML, Rucci E, Piemontese MR, D'Agruma L, Persico AM. Muscarella LA, et al. Among authors: piemontese mr. Am J Med Genet B Neuropsychiatr Genet. 2007 Apr 5;144B(3):388-90. doi: 10.1002/ajmg.b.30469. Am J Med Genet B Neuropsychiatr Genet. 2007. PMID: 17171652
A new locus on 3p23-p25 for an autosomal-dominant limb-girdle muscular dystrophy, LGMD1H.
Bisceglia L, Zoccolella S, Torraco A, Piemontese MR, Dell'Aglio R, Amati A, De Bonis P, Artuso L, Copetti M, Santorelli FM, Serlenga L, Zelante L, Bertini E, Petruzzella V. Bisceglia L, et al. Among authors: piemontese mr. Eur J Hum Genet. 2010 Jun;18(6):636-41. doi: 10.1038/ejhg.2009.235. Epub 2010 Jan 13. Eur J Hum Genet. 2010. PMID: 20068593 Free PMC article.
14 results