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Results 1 to 25 of 63

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Protein farnesylation and diseaseNOVELLI, Giuseppe; D'APICE, Maria Rosaria.Journal of inherited metabolic disease. 2012, Vol 35, Num 5, pp 917-926, issn 0141-8955, 10 p.Article

Causes of the phenotype-genotype dissociation in DiGeorge syndrome: clues from mouse modelsBOTTA, Annalisa; AMATI, Francesca; NOVELLI, Giuseppe et al.Trends in genetics (Regular ed.). 2001, Vol 17, Num 10, pp 551-554, issn 0168-9525Article

The genetics of psoriasisNOVELLI, Giuseppe; GIARDINA, Emiliano.Recent research developments in human genetics (Volume 2, 2004). Recent research developments in human genetics. 2004, pp 37-53, isbn 81-7736-212-7, 17 p.Book Chapter

HCP5 genetic variant (RS3099844) contributes to Nevirapine-induced Stevens Johnsons Syndrome/Toxic Epidermal Necrolysis susceptibility in a population from MozambiqueBORGIANI, Paola; DI FUSCO, Davide; ERBA, Fulvio et al.European journal of clinical pharmacology. 2014, Vol 70, Num 3, pp 275-278, issn 0031-6970, 4 p.Article

Deletion of Late Cornified Envelope 3B and 3C Genes Is Not Associated with Atopic DermatitisBERGBOER, Judith G. M; ZEEUWEN, Patrick L. J. M; CAMPBELL, Linda E et al.Journal of investigative dermatology. 2010, Vol 130, Num 8, pp 2057-2061, issn 0022-202X, 5 p.Article

Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasisDE CID, Rafael; RIVEIRA-MUNOZ, Eva; ESCARAMIS, Georgia et al.Nature genetics. 2009, Vol 41, Num 2, pp 211-215, issn 1061-4036, 5 p.Article

Short-Term Cyclosporine Therapy and Cotransplantation of Donor Splenocytes : Effects on Graft Rejection and Survival Rates in Pigs Subjected to Renal TransplantationMAESTRI, Marcello; RADEMACHER, Johannes; OLDANI, Graziano et al.The Journal of surgical research. 2008, Vol 150, Num 1, pp 100-109, issn 0022-4804, 10 p.Article

In vivo and in vitro studies support that a new splicing isoform of OLR1 gene is protective against acute myocardial infarctionMANGO, Ruggiero; BIOCCA, Silvia; FAVALLI, Cartesio et al.Circulation research. 2005, Vol 97, Num 2, pp 152-158, issn 0009-7330, 7 p.Article

Ellis-van creveld syndrome with hydrometrocolpos is not linked to chromosome arm 4p or 20pDIGILIO, Maria Cristina; GIANNOTTI, Aldo; TORRENTE, Isabella et al.American journal of medical genetics. 2004, Vol 124A, Num 3, pp 319-323, issn 0148-7299, 5 p.Article

Single primer pair for PCR identification of Candida parapsilosis group I isolatesPONTIERI, Eugenio; CARACCIOLO, Claudia; BIANCHINI, Stefano et al.Journal of medical microbiology. 2001, Vol 50, Num 5, pp 441-448, issn 0022-2615Article

Review of nutrient actions on age-related macular degenerationZAMPATTI, Stefania; RICCI, Federico; CUSUMANO, Andrea et al.Nutrition research (New York, NY). 2014, Vol 34, Num 2, pp 95-105, issn 0271-5317, 11 p.Article

LOX-1/LOXIN: The Yin/Yang of AtheroscleorosisMANGO, Ruggiero; PREDAZZI, Irene Marta; ROMEO, Francesco et al.Cardiovascular drugs and therapy. 2011, Vol 25, Num 5, pp 489-494, issn 0920-3206, 6 p.Article

Skeletal phenotype of mandibuloacral dysplasia associated with mutations in ZMPSTE24CUNNINGHAM, Vicki J; D'APICE, Maria Rosaria; LICATA, Norma et al.Bone (New York, NY). 2010, Vol 47, Num 3, pp 591-597, issn 8756-3282, 7 p.Article

MicroRNA 217 Modulates Endothelial Cell Senescence via Silent Information Regulator 1MENGHINI, Rossella; CASAGRANDE, Viviana; LAURO, Renato et al.Circulation (New York, N.Y.). 2009, Vol 120, Num 15, pp 1524-1532, issn 0009-7322, 9 p.Article

Atypical Progeroid Syndrome due to Heterozygous Missense LMNA MutationsGARG, Abhimanyu; SUBRAMANYAM, Lalitha; AGARWAL, Anil K et al.The Journal of clinical endocrinology and metabolism. 2009, Vol 94, Num 12, pp 4971-4983, issn 0021-972X, 13 p.Article

OLR1 gene and coronary artery disease/acute myocardial infarction : replication in an independently collected sample. Authors' replyNOVELLI, Giuseppe; BORGIANI, Paola; GIRELLI, Domenico et al.European journal of human genetics. 2006, Vol 14, Num 8, pp 894-895, issn 1018-4813, 2 p.Article

Variations in the NMDA receptor subunit 2B gene (GRIN2B) and schizophrenia: A case-control studyDI MARIA, Emilio; GULLI, Rossella; AJMAR, Franco et al.American journal of medical genetics. 2004, Vol 128B, Num 1, pp 27-29, issn 0148-7299, 3 p.Article

Segregation analysis in cystic fibrosis at-risk family demonstrates that the M348K CFTR mutation is a rare innocuous polymorphismD'APICE, Maria Rosaria; GAMBARDELLA, Stefano; RUSSO, Silvia et al.Prenatal diagnosis. 2004, Vol 24, Num 12, pp 981-983, issn 0197-3851, 3 p.Article

Typing of ARMS2 and CFH in Age-Related Macular Degeneration: Case-Control Study and Assessment of Frequency in the Italian PopulationRICCI, Federico; ZAMPATTI, Stefania; GIARDINA, Emiliano et al.Archives of ophthalmology (1960). 2009, Vol 127, Num 10, pp 1368-1372, issn 0003-9950, 5 p.Article

Genetic studies of African populations : an overview on disease susceptibility and response to vaccines and therapeuticsSIRUGO, Giorgio; HENNIG, Branwen J; SOODYALL, Himla et al.Human genetics. 2008, Vol 123, Num 6, pp 557-598, issn 0340-6717, 42 p.Article

Mannose-binding lectin polymorphisms and pulmonary outcome in premature neonates : a pilot studyCAPOLUONGO, Ettore; VENTO, Giovanni; ZUPPI, Cecilia et al.Intensive care medicine (Print). 2007, Vol 33, Num 10, pp 1787-1794, issn 0342-4642, 8 p.Article

Fractionated ionizing radiation exposure induces apoptosis through caspase-3 activation and reactive oxygen species generationBUCCI, Barbara; MISITI, Silvia; AMATI, Francesca et al.Anticancer research. 2006, Vol 26, Num 6B, pp 4549-4557, issn 0250-7005, 9 p.Article

Association of the G289S single nucleotide polymorphism in the HSD17B3 gene with prostate cancer in Italian menMARGIOTTI, Katia; KIM, Eugene; PEARCE, C. Leigh et al.The Prostate. 2002, Vol 53, Num 1, pp 65-68, issn 0270-4137Article

Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/CNOVELLI, Giuseppe; MUCHIR, Antoine; TUDISCO, Cosimo et al.American journal of human genetics. 2002, Vol 71, Num 2, pp 426-431, issn 0002-9297Article

Mutations in the hepatocyte nuclear factor-1β gene are associated with familial hypoplastic glomerulocystic kidney diseaseBINGHAM, Coralie; BULMAN, Michael P; HATTERSLEY, Andrew T et al.American journal of human genetics. 2001, Vol 68, Num 1, pp 219-224, issn 0002-9297Conference Paper

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