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Page 1
Genetic variants regulating immune cell levels in health and disease.
Orrù V, Steri M, Sole G, Sidore C, Virdis F, Dei M, Lai S, Zoledziewska M, Busonero F, Mulas A, Floris M, Mentzen WI, Urru SA, Olla S, Marongiu M, Piras MG, Lobina M, Maschio A, Pitzalis M, Urru MF, Marcelli M, Cusano R, Deidda F, Serra V, Oppo M, Pilu R, Reinier F, Berutti R, Pireddu L, Zara I, Porcu E, Kwong A, Brennan C, Tarrier B, Lyons R, Kang HM, Uzzau S, Atzeni R, Valentini M, Firinu D, Leoni L, Rotta G, Naitza S, Angius A, Congia M, Whalen MB, Jones CM, Schlessinger D, Abecasis GR, Fiorillo E, Sanna S, Cucca F. Orrù V, et al. Among authors: oppo m. Cell. 2013 Sep 26;155(1):242-56. doi: 10.1016/j.cell.2013.08.041. Cell. 2013. PMID: 24074872 Free PMC article.
Low-pass DNA sequencing of 1200 Sardinians reconstructs European Y-chromosome phylogeny.
Francalacci P, Morelli L, Angius A, Berutti R, Reinier F, Atzeni R, Pilu R, Busonero F, Maschio A, Zara I, Sanna D, Useli A, Urru MF, Marcelli M, Cusano R, Oppo M, Zoledziewska M, Pitzalis M, Deidda F, Porcu E, Poddie F, Kang HM, Lyons R, Tarrier B, Gresham JB, Li B, Tofanelli S, Alonso S, Dei M, Lai S, Mulas A, Whalen MB, Uzzau S, Jones C, Schlessinger D, Abecasis GR, Sanna S, Sidore C, Cucca F. Francalacci P, et al. Among authors: oppo m. Science. 2013 Aug 2;341(6145):565-9. doi: 10.1126/science.1237947. Science. 2013. PMID: 23908240 Free PMC article.
Mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome in the context of inherited lipodystrophies.
Reinier F, Zoledziewska M, Hanna D, Smith JD, Valentini M, Zara I, Berutti R, Sanna S, Oppo M, Cusano R, Satta R, Montesu MA, Jones C, Cerimele D, Nickerson DA, Angius A, Cucca F, Cottoni F, Crisponi L. Reinier F, et al. Among authors: oppo m. Metabolism. 2015 Nov;64(11):1530-40. doi: 10.1016/j.metabol.2015.07.022. Epub 2015 Aug 1. Metabolism. 2015. PMID: 26350127 Review.
Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report.
Alves RM, Uva P, Veiga MF, Oppo M, Zschaber FCR, Porcu G, Porto HP, Persico I, Onano S, Cuccuru G, Atzeni R, Vieira LCN, Pires MVA, Cucca F, Toralles MBP, Angius A, Crisponi L. Alves RM, et al. Among authors: oppo m. BMC Med Genet. 2019 Jan 14;20(1):16. doi: 10.1186/s12881-019-0745-7. BMC Med Genet. 2019. PMID: 30642272 Free PMC article.
A novel founder MYO15A frameshift duplication is the major cause of genetic hearing loss in Oman.
Palombo F, Al-Wardy N, Ruscone GA, Oppo M, Kindi MN, Angius A, Al Lamki K, Girotto G, Giangregorio T, Benelli M, Magi A, Seri M, Gasparini P, Cucca F, Sazzini M, Al Khabori M, Pippucci T, Romeo G. Palombo F, et al. Among authors: oppo m. J Hum Genet. 2017 Feb;62(2):259-264. doi: 10.1038/jhg.2016.120. Epub 2016 Oct 13. J Hum Genet. 2017. PMID: 27734841
Exome sequencing in Crisponi/cold-induced sweating syndrome-like individuals reveals unpredicted alternative diagnoses.
Angius A, Uva P, Oppo M, Buers I, Persico I, Onano S, Cuccuru G, Van Allen MI, Hulait G, Aubertin G, Muntoni F, Fry AE, Annerén G, Stattin EL, Palomares-Bralo M, Santos-Simarro F, Cucca F, Crisponi G, Rutsch F, Crisponi L. Angius A, et al. Among authors: oppo m. Clin Genet. 2019 May;95(5):607-614. doi: 10.1111/cge.13532. Epub 2019 Mar 28. Clin Genet. 2019. PMID: 30859550
Novel NALCN biallelic truncating mutations in siblings with IHPRF1 syndrome.
Angius A, Cossu S, Uva P, Oppo M, Onano S, Persico I, Fotia G, Atzeni R, Cuccuru G, Asunis M, Cucca F, Pruna D, Crisponi L. Angius A, et al. Among authors: oppo m. Clin Genet. 2018 Jun;93(6):1245-1247. doi: 10.1111/cge.13162. Epub 2018 Feb 5. Clin Genet. 2018. PMID: 29399786
Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa.
Angius A, Uva P, Buers I, Oppo M, Puddu A, Onano S, Persico I, Loi A, Marcia L, Höhne W, Cuccuru G, Fotia G, Deiana M, Marongiu M, Atalay HT, Inan S, El Assy O, Smit LM, Okur I, Boduroglu K, Utine GE, Kılıç E, Zampino G, Crisponi G, Crisponi L, Rutsch F. Angius A, et al. Among authors: oppo m. Am J Hum Genet. 2016 Jul 7;99(1):236-45. doi: 10.1016/j.ajhg.2016.05.026. Am J Hum Genet. 2016. PMID: 27392078 Free PMC article.
15 results