Studi pubblicati nel 2013

  1. Resta N, Stella A, Lenato G, Pierannunzio D, Capocaccia R, Bagnulo R, Lastella P, Susca F, Bozzao C, Sabba C, Urso E, Sala P, Fornasarig M, Grammatico P, Piepoli A, Host C, Turchetti D, Viel A, Memo L, Giunti L, Stigliano V, Varesco L, Bertario L, Genuardi M, Lucci Cordisco M, Tibiletti MG, Di Gregorio C, Ponz de Leon M. Cancer risk associated with STK11/LKB1 germline mutations in Peutz-Jeghers Syndrome patients: results of an Italian multicenter study. Dig Liver Dis. 2013 Feb 14
  2. Puntervoll HE,Yang XR, Vetti HH, Bachmann IM, Avril MF, Catricalà C, Ghiorzo P, Grammatico P, Harland M, Hayward NK, Jouary T, Pjanova D, Soufir N, Steine SJ, Stratigos AJ, Newton-Bishop J, Goldstein AM, Akslen LA & Molven A. Malignant Melanoma Families with CDK4 Germline Mutations. J Med Genet. 2013 Feb 5.
  3. Muhn F, Klopocki E, Graul-Neumann L, Uhrig S, Colley A, Castori M, Lankes E, Henn W, Gruber-Sedlmayr U, Seifert W, Horn D. Novel mutations of the PRKAR1A gene in patients with acrodysostosis. Clin Genet. 2013 Feb 21. doi: 10.1111/cge.12106.
  4. Majore S, Ricerca BM, Radio FC, Binni F, Cosentino I, Gallusi G, De Bernardo C, Morrone A, Grammatico P. Type 3 hereditary hemochromatosis in a patient from sub-Saharan Africa: Is there a link between African iron overload and TFR2 dysfunction? Blood Cells Mol Dis Jan;50(1):31-2,2013.
  5. Castori M. Diabetic embryopathy: a developmental perspective from fertilization to adulthood. Mol Syndromol. Feb;4(1-2):74-86, 2013
  6. Guarino N, Scommegna S, Majore S, Rapone AM, Ungaro L, Morrone A, Grammatico P, Marrocco GA. Vaginoplasty for disorders of sex development. Front Endocrinol (Lausanne). 2013 Mar 11;4:29.
  7. Celletti C, Castori M, La Torre G, Camerota F. Evaluation of kinesiophobia and its correlations with pain and fatigue in joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type. Biomed Res Int. 2013;2013:580460. doi: 10.1155/2013/580460. Epub 2013 Jul 14.
  8. Lambert de Rouvroit C, Charlier C, Lederer D, De Glas V, De Vuyst E, Dargent JL, Grammatico P, Binni F, Rousseau C, Hennecker JL, Nikkels AF, Poumay Y. In vitro reconstruction of epidermis from primary Darier's disease keratinocytes replicates the histopathological phenotype. J Dermatol Sci. 2013 Aug;71(2):138-40
  9. TremanteE, Ginebri A Lo MonacoE, Benassi B, Frascione P, Grammatico P, Cappellacci S, Catricalà C, ArcelliD, Di Filippo F, NataliPG, Mottolese M, ViscaP, Benevolo M, and Giacomini P. A melanoma immune response signature including Human Leukocyte Antigen (HLA)-E,". Accettato agosto 2013 Pigment Cell & Melanoma Research
  10. Castori M, Valiante M, Pascolini G, Leuzzi V, Pizzuti A, Grammatico P. Clinical and Genetic Study of Two Patients with Zimmermann-Laband Syndrome and Literature Review. Eur J Med Genet. 2013 Aug 27. doi:pii: S1769-7212(13)00177-8. 10.1016/j.ejmg.2013.08.004.
  11. Granata G, Padua L, Celletti C, Castori M, Saraceni VM, Camerota F. Entrapment neuropathies and polyneuropathies in joint hypermobility syndrome/Ehlers-Danlos syndrome. Clin Neurophysiol. 2013 Aug;124(8):1689-94.
  12. Bottillo I, Morrone A, Grammatico P. Pharmacogenetics in the Era of next generation sequencing. Eur J Pharmacoviogilance 1: : 109. doi:10.4172/2329-6887.1000109, 2013
  13. Radio FC, Majore S, Binni F, Valiante M, Ricerca BM, Morrone A, De Bernardo C, Grammatico P. TFR2-related hereditary hemochromatosis as a frequent cause of primary iron overload in patients from Central-Southern Italy. Blood Cells, Molecules and Diseases, accettato settembre 2013.
  14. Castori M Joint hypermobility syndrome (a.k.a. Ehlers-Danlos Syndrome, Hypermobility Type): an updated critique. G Ital Dermatol Venereol. 2013 Feb;148(1):13-36. Review.