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Genotypic Categorization of Loeys-Dietz Syndrome Based on 24 Novel Families and Literature Data.
Genes (Basel). 2019 Sep 28;10(10):764. doi: 10.3390/genes10100764.
Genes (Basel). 2019.
PMID: 31569402
Free PMC article.
Review.
Keratoderma-Deafness-Mucocutaneous Syndrome Associated with Phe142Leu in the GJB2 Gene.
Guerra L, Bergamo F, D'Apice MR, Angelucci F, di Girolamo S, Camerota L, Monetta R, Annessi G, Castiglia D, Novelli G, Paradisi M, Brancati F.
Guerra L, et al. Among authors: monetta r.
Acta Derm Venereol. 2019 Nov 1;99(12):1192-1194. doi: 10.2340/00015555-3291.
Acta Derm Venereol. 2019.
PMID: 31408183
Free article.
No abstract available.
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Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome.
Li D, March ME, Fortugno P, Cox LL, Matsuoka LS, Monetta R, Seiler C, Pyle LC, Bedoukian EC, Sánchez-Soler MJ, Caluseriu O, Grand K, Tam A, Aycinena ARP, Camerota L, Guo Y, Sleiman P, Callewaert B, Kumps C, Dheedene A, Buckley M, Kirk EP, Turner A, Kamien B, Patel C, Wilson M, Roscioli T, Christodoulou J, Cox TC, Zackai EH, Brancati F, Hakonarson H, Bhoj EJ.
Li D, et al. Among authors: monetta r.
Hum Genet. 2021 Jul;140(7):1061-1076. doi: 10.1007/s00439-021-02274-3. Epub 2021 Apr 3.
Hum Genet. 2021.
PMID: 33811546
Free PMC article.
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RIPK4 regulates cell-cell adhesion in epidermal development and homeostasis.
Fortugno P, Monetta R, Belli M, Botti E, Angelucci F, Palmerini MG, Nottola SA, De Luca C, Ceccarini M, Salvatore M, Bianchi L, Macioce P, Teson M, Ricci F; Italian Undiagnosed Diseases Network; Macchiarelli G, Didona B, Costanzo A, Castiglia D, Brancati F.
Fortugno P, et al. Among authors: monetta r.
Hum Mol Genet. 2022 Aug 17;31(15):2535-2547. doi: 10.1093/hmg/ddac046.
Hum Mol Genet. 2022.
PMID: 35220430
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Systemic Photoprotection in Melanoma and Non-Melanoma Skin Cancer.
Hyeraci M, Papanikolau ES, Grimaldi M, Ricci F, Pallotta S, Monetta R, Minafò YA, Di Lella G, Galdo G, Abeni D, Fania L, Dellambra E.
Hyeraci M, et al. Among authors: monetta r.
Biomolecules. 2023 Jul 2;13(7):1067. doi: 10.3390/biom13071067.
Biomolecules. 2023.
PMID: 37509103
Free PMC article.
Review.
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Truncating variants in the penultimate exon of TGFBR1 escaping nonsense-mediated mRNA decay cause Loeys-Dietz syndrome.
Fortugno P, Monetta R, Cinquina V, Rigon C, Boaretto F, De Luca C, Zoppi N, Di Leandro L, De Domenico E, Di Daniele A, Ippoliti R, Angelucci F, Di Cesare E, De Paulis R, Salviati L, Colombi M, Brancati F, Ritelli M.
Fortugno P, et al. Among authors: monetta r.
Eur J Hum Genet. 2023 May;31(5):596-601. doi: 10.1038/s41431-022-01279-4. Epub 2023 Jan 4.
Eur J Hum Genet. 2023.
PMID: 36599937
Free PMC article.
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