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Studi pubblicati nel 2015

Mauri L, Franzoni A, Scarcello M, Sala S, Garavelli L, Modugno A, Grammatico P, Patrosso MC, Piozzi E, Del Longo A, Gesu GP, Manfredini E, Primignani P, Damante G, Penco S. SOX2, OTX2 and PAX6 analysis in subjects with anophthalmia and microphthalmia. Eur J Med Genet. 58(2),66-70,2015.

Castori M, Morlino S, Ghibellini G, Celletti C, Camerota F, Grammatico P. Connective tissue, Ehlers-Danlos syndrome(s), and head and cervical pain. Am J Med Genet C Semin Med Genet. 169(1),84-96, 2015

Castori M, Dordoni C, Morlino S, Sperduti I, Ritelli M, Valiante M, Chiarelli N, Zanca A, Celletti C, Venturini M, Camerota F, Calzavara-Pinton P, Grammatico P, Colombi M. Spectrum of mucocutaneous manifestations in 277 patients with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type. Am J Med Genet C Semin Med Genet. 169(1),43-53,2015.

Marrocco G, Grammatico P, Vallasciani S, Gulia C, Zangari A, Marrocco F, Bateni ZH, Porrello A, Piergentili R. Environmental, parental and gestational factors that influence the occurrence of hypospadias in male patients J Pediatric Urol 11(1),12-19, 2015

Castori M, Pascolini G, Parisi V, Sana ME, Novelli A, Nurnberg P, IAscone M, Grammatico P. Microcephaly, ectodermal dysplasia, multiple skeletal anomalies and distintive facial appearance: delineation of cerebro-dermato-osseous-dysplasia. Am J Med Genet A, 167(4),842-851,2015. 

Castori M, Morlino S, Pascolini G, Blundo C, Grammatico P. Gastrointestinal and nutritional issues in joint hypermobility syndrome/ehlers-danlos syndrome, hypermobility type. Am J Med Genet C Semin Med Genet 169(1),54-75,2015. 

Caruso M, Ferranti F, Corano Scheri K, Dobrowolny G, Ciccarone F, Grammatico P. Catizone A, Ricci G. R-Spondin 1/Dickkopf-1/Beta-Catenin Machinery Is involved in testicular embryonic angiogenesis. PloS ONE Apr 24;10(4): e0124213.,2015                

Kortüm F, Caputo V, Bauer CK, Stella L, Ciolfi A, Alawi M, Bocchinfuso G, Flex E, Paolacci S, Dentici ML, Grammatico P, Korenke GC, Leuzzi V, Mowat D, Nair LDV, Nguyen TTM, Thierry P, White SM , Dallapiccola B, Pizzuti A, Campeau PM, Tartaglia M, Kutsche K. Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome. Nature Genetics, Jun;47(6):661-7,2015 

Radio FC, Majore S, Aurizi C, Sorge F, Biolcati G, Bernabini S, Giotti I, Torricelli F, Giannarelli D, De Bernardo C, Grammatico P. Hereditary hemochromatosis type 1 phenotype modifiers in Italian patients. The controversial role of variants in HAMP, BMP2, FTL and SLC40A1 genes. Blood Cells Mol Dis. Jun;55(1):71-5,2015