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Article

Bennett, Simon T. and Wilson, Amanda J. and Cucca, Francesco and Nerup, Jørn and Pociot, Flemming and McKinney, Patricia A. and Barnett, Anthony H. and Bain, Stephen Charles and Todd, John A. (1996) IDDM2-VNTR-encoded susceptibility to type 1 diabetes: dominant protection and parental transmission of alleles of the insulin gene-linked minisatellite locus. Journal of Autoimmunity, Vol. 9 (3), p. 415-421. eISSN 1095-9157. Article.

Bennett, Simon T. and Wilson, Amanda J. and Esposito, Laura and Bouzekri, Nourdine and Undlien, Dag Erik and Cucca, Francesco and Nisticò, Lorenza and Buzzetti, Raffaella and Bosi, Emanuele and Pociot, Flemming and Nerup, Jørn and Cambon Thomsen, Anne and Pugliese, Alberto and Shield, Julian P. and McKinney, Patricia A. and Bain, Stephen Charles and Polychronakos, Constantin and Todd, John A. (1997) Insulin VNTR allele-specific effect in type 1 diabetes depends on identity of untransmitted paternal allele. Nature Genetics, Vol. 17 (3), p. 350-352. eISSN 1546-1718. Article.

Bonfigli, Silvana and Fozza, Claudio and Contini, Salvatore and Buzzetti, Raffaella and Cucca, Francesco and Longinotti, Maurizio Roberto (2007) High frequency of the TCRBV20S1 null allele in the Sardinian population. Human Immunology, Vol. 68 (5), p. 426-429. ISSN 0198-8859. Article.

Booth, David and Heard, Robert and Stewart, Graeme and Goris, An and Dobosi, Rita and Dubois, Bénédicte and Oturai, Annette and Søndergaard, Helle Bach and Sellebjerg, Finn and Saarela, Janna and Leppä, Virpi and Palotie, Aarno and Peltonen, Leena and Fontaine, Bertrand and Cournu-Rebeix, Isabelle and Clerget-Darpoux, Françoise and Babron, Marie-Claude and Weber, Frank and Holsboer, Florian and Müller-Myhsok, Bertram and Rieckmann, Peter and Kroner, Antje and Graham, Colin and Vandenbroeck, Koen and Hawkins, Stanley and D'Alfonso, Sandra and Bergamaschi, Laura and Naldi, Paola and Guerini, Franca R. and Salvetti, Marco and Galimberti, Daniela and Hintzen, Rogier Q. and Duijn, Cornelia van and Lorentzen, Åslaug R. and Celius, Elisabeth Gulowsen and Harbo, Hanne Flinstad and Spurkland, Anne and Cucca, Francesco and Marrosu, Maria Giovanna and Comabella, Manuel and Montalbán, Xavier and Villoslada, Paolo and Olsson, Tomas and Kockum, Ingrid and Hillert, Jan and Ban, Maria and Walton, Amie and Sawcer, Stephen and Compston, Alastair and Hawkins, Clive and Mihalova, Tania and Robertson, Neil P. and Ingram, Gillian and De Jager, Philip L. and Hafler, David A. and Rioux, John D. and Daly, Mark and Barcellos, Lisa F. and Ivinson, Adrian and Pericak-Vance, Margaret and Hoksenberg, Jorge and Hauser, Stephen and McCauley, Jacob and Sexton, David and Haines, Jonathan (2008) Refining genetic associations in multiple sclerosis. The Lancet Neurology, Vol. 7 (7), p. 567-569. ISSN 1474-4422. Article.

Bottini, Nunzio and Vang, Torkel and Cucca, Francesco and Mustelin, Tomas (2006) Role of PTPN22 in type 1 diabetes and other autoimmune diseases. Seminars in Immunology, Vol. 18 (4), p. 207-213. ISSN 1044-5323. Article.

Cabras, Stefano and Castellanos, Maria Eugenia and Biino, Ginevra and Persico, Ivana and Sassu, Alessandro and Casula, Laura and Del Giacco, Stefano and Bertolino, Francesco and Pirastu, Mario and Pirastu, Nicola (2011) A Strategy analysis for genetic association studies with known inbreeding. BMC Genetics, Vol. 12:63 (1), p. 1-12. eISSN 1471-2156. Article.

Catassi, Carlo and Macis, Maria Doloretta and Rätsch, Ilse Maria and De Virgiliis, Stefano and Cucca, Francesco (2001) The Distribution of DQ genes in the Saharawi population provides only a partial explanation for the high celiac disease prevalence. Tissue Antigens, Vol. 58 (6), p. 402-406. eISSN 1399-0039. Article.

Congia, Mauro and Clemente, Maria Grazia and Dessì, Carlo and Cucca, Francesco and Mazzoleni, Anna Paola and Frau, Fulvia and Lampis, Rosanna and Cao, Antonio and Lai, Maria Eliana and De Virgiliis, Stefano (1996) HLA class II genes in chronic hepatitis C virus-infection and associated immunological disorders. Hepatology, Vol. 24 (6), p. 1338-1341. eISSN 1527-3350. Article.

Congia, Mauro and Cucca, Francesco and Frau, Fulvia and Lampis, Rosanna and Melis, Luigi and Clemente, Maria Grazia and Cao, Antonio and De Virgiliis, Stefano (1994) A Gene dosage effect of the DQA1*0501/DQB1*0201 allelic combination influences the clinical heterogeneity of celiac disease. Human Immunology, Vol. 40 (2), p. 138-142. ISSN 0198-8859. Article.

Contu, Daniela and Morelli, Laura Cornelia Clotilde and Santoni, Federico and Foster, Jamie W. and Francalacci, Paolo and Cucca, Francesco (2008) Y-Chromosome based evidence for pre-neolithic origin of the genetically homogeneous but diverse sardinian population: inference for association scans. PLoS One, Vol. 3 (1), e1430. ISSN 1932-6203. Article.

Contu, Daniela and Morelli, Laura Cornelia Clotilde and Zavattari, Patrizia and Lampis, Rosanna and Angius, Efisio and Frongia, Patrizia and Murru, Daniela and Maioli, Mario and Francalacci, Paolo and Todd, John A. and Cucca, Francesco (2002) Sex-related bias and exclusion mapping of the nonrecombinant portion of chromosome Y in human type 1 diabetes in the isolated founder population of Sardinia. Diabetes, Vol. 51 (12), p. 3573-3576. eISSN 1939-327X. Article.

Copeman, James B. and Cucca, Francesco and Hearne, Catherine M. and Cornall, Richard J. and Reed, Peter W. and Ronningen, Kjersti Skjold and Undlien, Dag Erik and Nisticò, Lorenza and Buzzetti, Raffaella and Tosi, Roberto and Pociot, Flemming and Nerup, Jørn and Cornélis, F. and Barnett, Anthony H. and Bain, Stephen Charles and Todd, John A. (1995) Linkage disequilibrium mapping of a type 1 diabetes susceptibility gene (IDDM7) to chromosome 2q31-q33. Nature Genetics, Vol. 9 (1), p. 80-85. eISSN 1546-1718. Article.

Cucca, Francesco and Congia, Mauro and Trowsdale, John and Powis, Stephen Hugh (1994) Insulin-dependent diabetes mellitus and the major histocompatibility complex peptide transporters TAP1 and TAP2: no association in a population with a high disease incidence. Tissue Antigens, Vol. 44 (4), p. 234-240. eISSN 1399-0039. Article.

Cucca, Francesco and Contu, Daniela and Zavattari, Patrizia and Murru, Daniela (2003) Correlation between major histocompatibility complex (MHC)-class II and type 1 diabetes. Minerva endocrinologica, Vol. 28 (2), p. 111-122. eISSN 1827-1634. Article.

Cucca, Francesco and Dudbridge, Frank and Loddo, Miriam and Mulargia, Annapaola and Lampis, Rosanna and Angius, Efisio and De Virgiliis, Stefano and Koeleman, Bobby P. C. and Bain, Stephen Charles and Barnett, Anthony H. and Gilchrist, Frances C. and Cordell, Heather J. and Welsh, Kenneth Ian and Todd, John A. (2001) The HLA-DPB1-associated component of the IDDM1 and its relationship to the major loci HLA-DQB1, -DQA1, and-DRB1. Diabetes, Vol. 50 (5), p. 1200-1205. ISSN 0012-1797. Article.

Cucca, Francesco and Esposito, Laura and Goy, Juliet V. and Merriman, Marilyn E. and Wilson, Amanda J. and Reed, Peter W. and Bain, Stephen Charles and Todd, John A. (1998) Investigation of linkage of chromosome 8 to type 1 diabetes: multipoint analysis and exclusion mapping of human chromosome 8 in 593 affected sib- pair families from the UK and US. Diabetes, Vol. 47 (9), p. 1525-1527. ISSN 0012-1797. Article.

Cucca, Francesco and Frau, Fulvia and Lampis, Rosanna and Floris, Monica and Argiolas, Luisa and Macis, Maria Doloretta and Cao, Antonio and De Virgiliis, Stefano and Congia, Mauro (1994) HLA-DQB1*0305 and −DQB1*0304 alleles among Sardinians: evolutionary and practical implications for oligotyping. Human Immunology, Vol. 40 (2), p. 143-149. ISSN 0198-8859. Article.

Cucca, Francesco and Goy, Juliet V. and Kawaguchi, Yoshihiko and Esposito, Laura and Merriman, Marilyn E. and Wilson, Amanda J. and Cordell, Heather J. and Bain, Stephen Charles and Todd, John A. (1998) A Male-female bias in type 1 diabetes and linkage to chromosome Xp in MHC HLA-DR3-positive patients. Nature Genetics, Vol. 19 (3), p. 301-302. eISSN 1546-1718. Article.

Cucca, Francesco and Lampis, Rosanna and Congia, Mauro and Angius, Efisio and Nutland, Sarah L. and Bain, Stephen Charles and Barnett, Anthony H. and Todd, John A. (2001) A Correlation between the relative predisposition of MHC class II alleles to type 1 diabetes and the structure of their proteins. Human Molecular Genetics, Vol. 10 (19), p. 2025-2037. eISSN 1460-2083. Article.

Cucca, Francesco and Lampis, Rosanna and Frau, Fulvia and Macis, Maria Doloretta and Angius, Efisio and Masile, Paolo and Chessa, Margherita and Frongia, Anna Paola and Silvetti, Mario and Cao, Antonio and De Virgiliis, Stefano and Congia, Mauro (1995) The Distribution of DR4 haplotypes in Sardinia suggests a primary association of type I diabetes with DRB1 and DQB1 loci. Human Immunology, Vol. 43 (4), p. 301-308. ISSN 0198-8859. Article.

Cucca, Francesco and Muntoni, Francesco M. and Lampis, Rosanna and Frau, Fulvia and Argiolas, Luisa and Silvetti, Mario and Angius, Efisio and Cao, Antonio and De Virgiliis, Stefano and Congia, Mauro (1993) Combinations of specific DRB1, DQA1, DQB1 haplotypes are associated with insulin-dependent diabetes mellitus in Sardinia. Human Immunology, Vol. 37 (2), p. 85-94. ISSN 0198-8859. Article.

Cucca, Francesco and Zhu, Zeng-B. and Khanna, Anu and Cossu, F. and Congia, Mauro and Badiali, Manuela and Lampis, Rosanna and Frau, Fulvia and De Virgiliis, Stefano and Cao, Antonio and Arnone, M. and Piras, P. and Campbell, R. Duncan and Cooper, Max Dale and Volanakis, John E. and Powis, Stephen H. (1998) Evaluation of IgA deficiency in Sardinians indicates a susceptibility gene is encoded within the HLA class III region. Clinical and Experimental Immunology, Vol. 111 (1), p. 76-80. eISSN 1365-2249. Article.

D'Alfonso, Sandra and Nisticò, Lorenza and Zavattari, Patrizia and Marrosu, Maria Giovanna and Murru, Raffaele and Lai, Marina and Massacesi, Luca and Ballerini, Clara and Gestri, Donella and Salvetti, Marco and Ristori, Giovanni and Bomprezzi, Roberto and Trojano, Maria and Liguori, Maria and Gambi, Domenico and Quattrone, Aldo and Fruci, Doriana and Cucca, Francesco and Momigliano Richiardi, Patricia and Tosi, Roberto (1999) Linkage analysis of multiple sclerosis with candidate region markers in Sardinian and continental Italian families. European Journal of Human Genetics, Vol. 7 (3), p. 377-385. eISSN 1476-5438. Article.

Dahlman, Ingrid and Eaves, Iain A. and Kosoy, Roman and Morrison, V. Anne and Heward, Joanne and Gough, Stephen C.L. and Allahabadia, Amit and Franklyn, Jayne A. and Tuomilehto, Jaakko and Tuomilehto Wolf, Eva and Cucca, Francesco and Guja, Cristian and Ionescu Tirgoviste, Constantin and Stevens, Helen E. and Carr, Philippa and Nutland, Sarah and McKinney, Patricia A. and Shield, Julian P. and Wang, William and Cordell, Heather J. and Walker, Neil and Todd, John A. and Concannon, Patrick J. (2002) Parameters for reliable results in genetic association studies in common disease. Nature Genetics, Vol. 30 (2), p. 149-150. eISSN 1546-1718. Article.

Davies, June L. and Cucca, Francesco and Goy, Juliet V. and Atta, Zeinat A. A. and Merriman, Marilyn E. and Wilson, Amanda J. and Barnett, Anthony H. and Bain, Stephen Charles and Todd, John A. (1996) Saturation multipoint linkage mapping of chromosome 6q in type 1 diabetes. Human Molecular Genetics, Vol. 5 (7), p. 1071-1074. eISSN 1460-2083. Article.

Eaves, Iain A. and Merriman, Tony R. and Barber, Rachael A. and Nutland, Sarah L. and Tuomilehto Wolf, Eva and Tuomilehto, Jaakko and Cucca, Francesco and Todd, John A. (2000) The Genetically isolated populations of Finland and Sardinia may not be a panacea for linkage disequilibrium mapping of common disease genes. Nature Genetics, Vol. 25 (3), p. 320-323. eISSN 1546-1718. Article.

Elhaik, Eran and Greenspan, Elliott and Staats, Sean and Krahn, Thomas and Tyler-Smith, Chris and Xue, Yali and Tofanelli, Sergio and Francalacci, Paolo and Cucca, Francesco and Pagani, Luca and Jin, Li and LI, Hui and Schurr, Theodore G. and Greespan, Bennett and Wells, R. Spencer (2013) The GenoChip: a new tool for genetic anthropology. Genome Biology and Evolution, Vol. 5 (5), p. 1021-1031. eISSN 1759-6653. Article.

Elhaik, Eran and Tatarinova, Tatiana and Chebotarev, Dmitri and Piras, Ignazio S. and Calò, Carla Maria and De Montis, Antonella and Atzori, Manuela and Marini, Monica and Tofanelli, Sergio and Francalacci, Paolo and Pagani, Luca and Tyler-Smith, Chris and Xue, Yali and Cucca, Francesco and Schurr, Theodore G. and Gaieski, Jill B. and Melendez, Carlalynne and Vilar, Miguel G. and Owings, Amanda C. and Gómez, Rocío and Fujita, Ricardo and Santos, Fabrício R. and Comas, David and Balanovsky, Oleg and Balanovska, Elena and Zalloua, Pierre and Soodyall, Himla and Pitchappan, Ramasamy and GaneshPrasad, ArunKumar and Hammer, Michael and Matisoo-Smith, Lisa and Spencer Wells, R. (2014) Geographic population structure analysis of worldwide human populations infers their biogeographical origins. Nature communications, Vol. 5 , Article 3513. eISSN 2041-1723. Article.

Esposito, Laura and Hill, Natasha Jeremy and Pritchard, Lynn E. and Cucca, Francesco and Muxworthy, Claire and Merriman, Marilyn E. and Wilson, Amanda J. and Julier, Cécile and Delépine, Marc and Tuomilehto, Jaakko and Tuomilehto Wolf, Eva and Ionescu Tirgoviste, Constantin and Nisticò, Lorenza and Buzzetti, Raffaella and Pozzilli, Paolo and Ferrari, Maurizio and Bosi, Emanuele and Pociot, Flemming and Nerup, Jørn and Bain, Stephen Charles and Todd, John A. (1998) Genetic analysis of chromosome 2 in type 1 diabetes: analysis of putative loci IDDM7, IDDM12, and IDDM13 and candidate genes NRAMP1 and IA-2 and the interleukin-1 gene cluster. Diabetes, Vol. 47 (11), p. 1797-1799. ISSN 0012-1797. Article.

Fernández, Juan Emilio and Prados Salazar, José Carlos and Melguizo, Consolacion and Arena, Nicola and Malavasi, Fabio and Alvarez, Luis and Aranega Jiménez, Antonia (1998) Characterization of a new human embryonal rhabdomyosarcoma cell line, RMS-GR. Cancer Science, Vol. 89 (5), p. 525-532. eISSN 1349-7006. Article.

Forabosco, Paola and Ramasamy, Adaikalavan and Trabzuni, Daniah and Walker, Robert and Smith, Colin and Bras, Jose and Levine, Adam P. and Hardy, John and Pocock, Jennifer M. and Guerreiro, Rita and Weale, Michael E. and Ryten, Mina (2013) Insights into TREM2 biology by network analysis of human brain gene expression data. Neurobiology of Aging, Vol. 34 (12), p. 2699-2714. ISSN 0197-4580. Article.

Fozza, Claudio and Poddie, Fausto Pier'Angelo and Contini, Salvatore and Galleu, Antonio and Cottoni, Francesca Maria Giovanna and Longinotti, Maurizio Roberto and Cucca, Francesco (2011) Keratitis-ichthyosis-deafness syndrome, atypical connexin GJB2 genemutation, and peripheral T-cell lymphoma: more than a random association? Case Reports in Hematology, Vol. 2011 , p. 1-3. eISSN 2090-6579. Article.

Fozza, Claudio and Zoledzieska, Magdalena and Pitzalis, Maristella and Simula, Maria Pina and Galleu, Antonio and Contini, Salvatore and Bonfigli, Silvana and Cucca, Francesco and Longinotti, Maurizio Roberto (2012) TCRBV20S1 polymorphism does not influence the susceptibility to type 1 diabetes and multiple sclerosis in the Sardinian population. Immunogenetics, Vol. 64 (2), p. 153-154. eISSN 1432-1211. Article.

Francalacci, Paolo and Morelli, Laura Cornelia Clotilde and Angius, Andrea and Berutti, Riccardo and Reinier, Frederic and Atzeni, Rossano and Pilu, Rosella and Busonero, Fabio and Maschio, Andrea and Zara, Ilenia and Sanna, Daria and Useli, Antonella and Urru, Maria Francesca and Marcelli, Marco and Cusano, Roberto and Oppo, Manuela and Zoledziewska, Magdalena and Pitzalis, Maristella and Deidda, Francesca and Porcu, Eleonora and Poddie, Fausto Pier'Angelo and Min Kang, Hyun and Lyons, Robert and Tarrier, Brendan and Gresham, Jennifer Bragg and Li, Bingshan and Tofanelli, Sergio and Alonso, Santos and Dei, Mariano and Lai, Sandra and Mulas, Antonella and Whalen, Michael B. and Uzzau, Sergio and Jones, Chris and Schlessinger, David and Abecasis, Gonçalo R. and Sanna, Serena and Sidore, Carlo and Cucca, Francesco (2013) Low-Pass DNA sequencing of 1200 Sardinians reconstructs European Y-cvhromosome phylogeny. Science, Vol. 341 (6145), p. 565-569. ISSN 0036-8075. eISSN 1095-9203. Article.

Ghiorzo, Paola and Pastorino, Lorenza and Pizzicchetta, Maria Antonietta and Bono, Riccardo and Queirolo, Paola and Talamini, Renato and Annessi, Giorgio and Bruno, William and Nasti, Sabina and Gargiulo, Sara and Battistuzzi, Linda and Sini, Maria Cristina and Palmieri, Giuseppe and Scarrà Bianchi, Giovanna (2009) CDKN2A and MC1R analysis in amelanotic and pigmented melanoma. Melanoma Research, Vol. 19 (3), p. 142-145. ISSN 0960-8931. Article.

Herr, Mathias H. and Dudbridge, Frank and Zavattari, Patrizia and Cucca, Francesco and Guja, Cristian and March, Ruth E. and Campbell, R. Duncan and Barnett, Anthony H. and Bain, Stephen Charles and Todd, John A. and Koeleman, Bobby P. C. (2000) Evaluation of fine mapping strategies for a multifactorial disease locus: systematic linkage and association analysis of IDDM1 in the HLA region on chromosome 6p21. Human Molecular Genetics, Vol. 9 (9), p. 1291-1301. eISSN 1460-2083. Article.

Hilner, Joan E. and Perdue, Letitia H. and Sides, Elizabeth G. and Pierce, June J. and Wägner, Ana M. and Aldrich, Alan and Loth, Amanda and Albret, Lotte and Wagenknecht, Lynne E. and Nierras, Concepcion and Akolkar, Beena and Cucca, Francesco [T1DGC] (2010) Designing and implementing sample and data collection for an international genetics study: the Type 1 Diabetes Genetics Consortium (T1DGC). Clinical Trials, Vol. 7 (1 suppl.), S5-S32. eISSN 1740-7753. Article.

Ionescu Tirgoviste, Constantin and Guja, Cristian and Herr, Mathias H. and Cucca, Francesco and Welsh, Kenneth Ian and Bunce, Michael and Marshall, Sara E. F. and Todd, John A. (2001) Low frequency of HLA DRB1*03 - DQB1*02 and DQB1*0302 haplotypes in Romania is consistent with the country's low incidence of Type I diabetes. Diabetologia, Vol. 44 (Suppl. 3), B60-B66. eISSN 1432-0428. Article.

Jores, Rita Désirée and Frau, Fulvia and Cucca, Francesco and Clemente, Maria Grazia and Orrù, Sandra and Rais, Marco and De Virgiliis, Stefano and Congia, Mauro (2007) HLA-DQB1*0201 homozygosis predisposes to severe intestinal damage in celiac disease. Scandinavian Journal of Gastroenterology, Vol. 42 (1), p. 48-53. eISSN 1502-7708. Article.

Koeleman, Bobby P. C. and Herr, Mathias H. and Zavattari, Patrizia and Dudbridge, Frank and March, Ruth E. and Campbell, Duncan K. G. and Barnett, Anthony H. and Bain, Stephen Charles and Mulargia, Annapaola and Loddo, Miriam and Amos, William Brad and Cucca, Francesco and Todd, John A. (2000) Conditional ETDT analysis of the human leukocyte antigen region in type 1 diabetes. Annals of Human Genetics, Vol. 64 (3), p. 215-221. eISSN 1469-1809. Article.

Koeleman, Bobby P. C. and Lie, Benedicte Alexandre and Undlien, Dag Erik and Dudbridge, Frank and Thorsby, Erik and De Vries, Rindert R. P. and Cucca, Francesco and Roep, Bart O. and Giphart, M. J. and Todd, John A. (2004) Genotype effects and epistasis in type 1 diabetes and HLA-DQ trans dimer associations with disease. Genes and Immunity, Vol. 5 (5), p. 381-388. eISSN 1476-5470. Article.

Lampis, Rosanna and Morelli, Laura Cornelia Clotilde and Congia, Mauro and Macis, Maria Doloretta and Mulargia, Annapaola and Loddo, Miriam and De Virgiliis, Stefano and Marrosu, Maria Giovanna and Todd, John A. and Cucca, Francesco (2000) The Inter-regional distribution of HLA class II haplotypes indicates the suitability of the Sardinian population for case–control association studies in complex diseases. Human Molecular Genetics, Vol. 9 (20), p. 2959-2965. eISSN 1460-2083. Article.

Lampis, Rosanna and Morelli, Laura Cornelia Clotilde and De Virgiliis, Stefano and Congia, Mauro and Cucca, Francesco (2000) The Distribution of HLA class II haplotypes reveals that the Sardinian population is genetically differentiated from the other Caucasian populations. Tissue Antigens, Vol. 56 (6), p. 515-521. eISSN 1399-0039. Article.

Maier, Lisa M. and Twells, Rebecca C. J. and Howson, Joanna M. M. and Lam, Alex C. and Clayton, David G. and Smyth, Deborah J. and Savage, David A. and Carson, Dennis J. and Patterson, Christopher C. and Smink, Luc J. and Walker, Neil M. and Burren, Oliver S. and Nutland, Sarah L. and Rance, Helen E. and Tuomilehto Wolf, Eva and Tuomilehto, Jaakko and Guja, Cristian and Ionescu Tirgoviste, Constantin and Undlien, Dag Erik and Ronningen, Kjersti Skjold and Cucca, Francesco and Todd, John A. (2003) Testing the possible negative association of type 1 diabetes and atopic disease by analysis of the interleukin 4 receptor gene. Genes and Immunity, Vol. 4 (7), p. 469-475. eISSN 1476-5470. Article.

Maioli, Mario and Pes, Giovanni Mario and Delitala, Giuseppe and Puddu, L. and Falorni, A. and Tolu, Francesco and Lampis, Rosanna and Orrù, Valeria and Secchi, G. and Cicalò, A. M. and Floris, R. and Madau, G. F. and Pilosu, R. M. and Whalen, Michael B. and Cucca, Francesco (2010) Number of autoantibodies and HLA genotype, more than high titers of glutamic acid decarboxylase autoantibodies, predict insulin dependence in latent autoimmune diabetes of adults. European Journal of Endocrinology, Vol. 163 (4), p. 541-549. eISSN 1479-683X. Article.

Marchal Corrales, Juan Antonio and Melguizo, Consolacion and Prados Salazar, José Carlos and Aranega, Amelia Eva and Gómez, José Antonio and Campos Rosa, Joaquin and Gallo, Miguel Angel and Espinosa, Antonio and Arena, Nicola and Aranega Jiménez, Antonia (2000) Modulation of myogenic differentiation in a human rhabdomyosarcoma cell line by a new derivative of 5-fluorouracil (QF-3602). Cancer Science, Vol. 91 (9), p. 934-940. eISSN 1349-7006. Article.

Marrosu, Maria Giovanna and Motzo, Costantino and Murru, Raffaele and Lampis, Rosanna and Costa, Gianna and Zavattari, Patrizia and Contu, Daniela and Fadda, Elisabetta and Cocco, Eleonora and Cucca, Francesco (2004) The Co-inheritance of type 1 diabetes and multiple sclerosis in Sardinia cannot be explained by genotype variation in the HLA region alone. Human Molecular Genetics, Vol. 13 (23), p. 2919-2924. eISSN 1460-2083. Article.

Marrosu, Maria Giovanna and Murru, Maria Rita and Costa, Gianna and Cucca, Francesco and Sotgiu, Stefano and Rosati, Giulio and Muntoni, Francesco M. (1997) Multiple sclerosis in Sardinia is associated and in linkage disequilibrium with HLA-DR3 and -DR4 alleles. American Journal of Human Genetics, Vol. 61 (2), p. 454-457. eISSN 1537-6605. Article.

Marrosu, Maria Giovanna and Murru, Maria Rita and Costa, Gianna and Murru, Raffaele and Muntoni, Francesco M. and Cucca, Francesco (1998) DRB1-DQA1-DQB1 loci and multiple sclerosis predisposition in the Sardinian population. Human Molecular Genetics, Vol. 7 (8), p. 1235-1237. eISSN 1460-2083. Article.

Marrosu, Maria Giovanna and Murru, Raffaele and Costa, Gianna and Melis, Maria Cristina and Rolesu, Marcella and Schirru, Lucia and Solla, Elisabetta and Cuccu, Stefania and Secci, Maria Antonietta and Whalen, Michael B. and Cocco, Eleonora and Pugliatti, Maura and Sotgiu, Stefano and Rosati, Giulio and Cucca, Francesco (2007) Variation of the myelin oligodendrocyte glycoprotein gene is not primarily associated with multiple sclerosis in the Sardinian population. BMC Genetics, Vol. 8 (25), p. 1-10. ISSN 1471-2156. Article.

Marrosu, Maria Giovanna and Murru, Raffaele and Murru, Maria Rita and Costa, Gianna and Zavattari, Patrizia and Whalen, Michael B. and Cocco, Eleonora and Mancosu, Cristina and Schirru, Lucia and Solla, Elisabetta and Fadda, Elisabetta and Melis, Cristina and Porru, Ilaria and Rolesu, Marcella and Cucca, Francesco (2001) Dissection of the HLA association with multiple sclerosis in the founder isolated population of Sardinia. Human Molecular Genetics, Vol. 10 (25), p. 2907-2916. eISSN 1460-2083. Article.

Marrosu, Maria Giovanna and Schirru, Lucia and Fadda, Elisabetta and Mancosu, Cristina and Lai, Marina and Cocco, Eleonora and Cucca, Francesco (2000) ICAM-1 gene is not associated with multiple sclerosis in Sardinian patients. Journal of Neurology, Vol. 247 (9), p. 677-680. eISSN 1432-1459. Article.

Mein, Charles A. and Esposito, Laura and Dunn, Michael G. and Johnson, Gillian C. L. and Timms, Andrew E. and Goy, Juliet V. and Smith, Annabel N. and Sebag Montefiore, Liam M. and Merriman, Marilyn E. and Wilson, Amanda J. and Pritchard, Lynn E. and Cucca, Francesco and Barnett, Anthony H. and Bain, Stephen Charles and Todd, John A. (1998) A Search for type 1 diabetes susceptibility genes in families from the United Kingdom. Nature Genetics, Vol. 19 (3), p. 297-300. eISSN 1546-1718. Article.

Merriman, Tony R. and Cordell, Heather J. and Eaves, Iain A. and Danoy, Patrick A. and Coraddu, Francesca and Barber, Rachael and Cucca, Francesco and Broadley, Simon and Sawcer, Stephen and Compston, Alastair and Wordsworth, Paul and Laval, Steven H. and Jirholt, Johan and Holmdahl, Rikard and Theofilopoulos, Argyrios N. and Kono, Dwight H. and Tuomilehto, Jaakko and Tuomilehto Wolf, Eva and Buzzetti, Raffaella and Marrosu, Maria Giovanna and Undlien, Dag Erik and Rønningen, Kjersti Skjold and Ionescu Tirgoviste, Constantin and Shield, Julian P. and Pociot, Flemming and Nerup, Jørn and Jacob, Chaim O. and Polychronakos, Constantin and Bain, Stephen Charles and Todd, John A. (2001) Suggestive evidence for association of human chromosome 18q12-q21 and its orthologue on rat and mouse chromosome 18 with several autoimmune diseases. Diabetes, Vol. 50 (1), p. 184-194. ISSN 0012-1797. Article.

Merriman, Tony R. and Eaves, Iain A. and Twells, Rebecca C. J. and Merriman, Marilyn E. and Danoy, Patrick A. and Muxworthy, Claire E. and Hunter, Kara M. D. and Cox, Roger D. and Cucca, Francesco and McKinney, Patricia A. and Shield, Julian P. and Baum, J. David and Tuomilehto, Jaakko and Tuomilehto Wolf, Eva and Ionescu Tirgoviste, Constantin and Joner, Geir and Thorsby, Erik and Undlien, Dag Erik and Pociot, Flemming and Nerup, Jørn and Ronningen, Kjersti Skjold and Bain, Stephen Charles and Todd, John A. (1998) Transmission of haplotypes of microsatellite markers rather than single marker alleles in the mapping of a putative type 1 diabetes susceptibility gene (IDDM6). Human Molecular Genetics, Vol. 7 (3), p. 517-524. eISSN 1460-2083. Article.

Merriman, Tony R. and Twells, Rebecca C. J. and Merriman, Marilyn E. and Eaves, Iain A. and Cox, Roger D. and Cucca, Francesco and McKinney, Patricia A. and Shield, Julian P. and Baum, J. David and Bosi, Emanuele and Pozzilli, Paolo and Nisticò, Lorenza and Buzzetti, Raffaella and Joner, Geir and Ronningen, Kjersti Skjold and Thorsby, Erik and Undlien, Dag Erik and Pociot, Flemming and Nerup, Jørn and Bain, Stephen Charles and Barnett, Anthony H. and Todd, John A. (1997) Evidence by allelic association-dependent methods for a type 1 diabetes polygene (IDDM6) on chromosome 18q21. Human Molecular Genetics, Vol. 6 (7), p. 1003-1010. eISSN 1460-2083. Article.

Morelli, Laura Cornelia Clotilde and Contu, Daniela and Santoni, Federico and Whalen, Michael B. and Francalacci, Paolo and Cucca, Francesco (2010) A Comparison of Y-Chromosome variation in Sardinia and Anatolia is more consistent with cultural rather than demic diffusion of agriculture. PLoS One, Vol. 5 (4), e10419. ISSN 1932-6203. Article.

Motzo, Costantino and Contu, Daniela and Cordell, Heather J. and Lampis, Rosanna and Congia, Mauro and Marrosu, Maria Giovanna and Todd, John A. and Devoto, Marcella and Cucca, Francesco (2004) Heterogeneity in the magnitude of the insulin gene effect on HLA risk in type 1 diabetes. Diabetes, Vol. 53 (12), p. 3286-3291. ISSN 0012-1797. Article.

Muntoni, Sandro and Cocco, Pierluigi and Aru, Gabriella and Cucca, Francesco and Muntoni, Sergio (2000) Nutritional factors and worldwide incidence of childhood type 1 diabetes. American Journal of Clinical Nutrition, Vol. 71 (6), p. 1525-1529. eISSN 1938-3207. Article.

Naitza, Silvia and Porcu, Elenora and Steri, Maristella and Taub, Dennis Daniel and Mulas, Antonella and Xiao, Xiang and Strait, James and Dei, Mariano and Lai, Sandra and Busonero, Fabio and Maschio, Andrea and Usala, Gianluca and Zoledziewska, Magdalena and Sidore, Carlo and Zara, Ilenia and Pitzalis, Maristella and Loi, Alessia and Virdis, Francesca and Piras, Roberta and Deidda, Francesca and Whalen, Michael B. and Crisponi, Laura and Concas, Antonio and Podda, Carlo and Uzzau, Sergio and Scheet, Paul and Longo, Dan L. and Lakatta, Edward G. and Abecasis, Gonçalo and Cao, Antonio and Schlessinger, David and Uda, Manuela and Sanna, Serena and Cucca, Francesco (2012) A Genome-wide association scan on the levels of markers of inflammation in Sardinians reveals associations that underpin its complex regulation. Plos Genetics, Vol. 8 (1), e1002480. ISSN 1553-7390. Article.

Nakagawa, Yusuke and Kawaguchi, Yoshihiko and Twells, Rebecca C. J. and Muxworthy, Claire E. and Hunter, Kara M. D. and Wilson, Amanda J. and Merriman, Marilyn E. and Cox, Roger D. and Merriman, Tony R. and Cucca, Francesco and McKinney, Patricia A. and Shield, Julian P. and Tuomilehto, Jaakko and Tuomilehto Wolf, Eva and Ionescu Tirgoviste, Constantin and Nisticò, Lorenza and Buzzetti, Raffaella and Pozzilli, Paolo and Joner, Geir and Thorsby, Erik and Undlien, Dag Erik and Pociot, Flemming and Nerup, Jørn and Ronningen, Kjersti Skjold and Bain, Stephen Charles and Todd, John A. (1998) Fine mapping of the diabetes-susceptibility locus, IDDM4, on chromosome 11q13. American Journal of Human Genetics, Vol. 63 (2), p. 547-556. eISSN 1537-6605. Article.

Orofino, Maria Grazia and Contu, Daniela and Argiolu, Francesca and Sanna, Maria Adele and Gaziev, Javid and La Nasa, Giorgio and Vacca, Adriana and Cao, Antonio and Cucca, Francesco (2006) No influence of chromosome Y haplogroup variation in acute graft-versus-host disease in Sardinia. Transplantation, Vol. 82 (11), p. 1529-1532. ISSN 0041-1337. Article.

Pippucci, Tommaso and Parmeggiani, Antonia and Palombo, Flavia and Maresca, Alessandra and Angius, Andrea and Crisponi, Laura and Cucca, Francesco and Liguori, Rocco and Valentino, Maria Lucia and Seri, Marco and Carelli, Valerio (2013) A Novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy. PLoS One, Vol. 8 (12), e82154. eISSN 1932-6203. Article.

Pociot, Flemming and Larsen, Zenia Marian and Zavattari, Patrizia and Deidda, Elisabetta and Nerup, Jørn and Cattaneo, Monica F. and Chiaramonte, Raffaella and Comi, Paola and Sabbadini, Marta and Zollo, Massimo and Biunno, Ida and Cucca, Francesco (2001) No evidence for SEL1L as a candidate gene for IDDM11-conferred susceptibility. Diabetes/Metabolism Research and Reviews, Vol. 17 (4), p. 292-295. eISSN 1520-7560. Article.

Quintana Murci, Lluìs and Semino, Ornella and Poloni, Estella and Liu, A. and Gijn, M. van and Passarino, Giuseppe and Brega, Agnese and Nasidze, Ivan and Maccioni, L. and Cossu, Gianfranco and Al-Zaheri, Nadia and Kidd, Judith R. and Kidd, Kenneth K. and Santachiara Benerecetti, Silvana Augusta (1999) Y-chromosome specific YCAII, DYS19 and YAP polymorphisms in human populations: a comparative study. Annals of Human Genetics, Vol. 63 (2), p. 153-166. eISSN 1469-1809. Article.

Ramasamy, Adaikalavan and Trabzuni, Daniah and Forabosco, Paola and Smith, Colin and Walker, Robert and Dillman, Allissa and Sveinbjornsdottir, Sigurlaug and Hardy, John and Weale, Michael E. and Ryten, Mina (2014) Genetic evidence for a pathogenic role for the vitamin D3 metabolizing enzyme CYP24A1 in multiple sclerosis. Multiple Sclerosis and Related Disorders, Vol. 3 (2), p. 211-219. ISSN 2211-0348. eISSN 2211-0356. Article.

Reed, Peter W. and Cucca, Francesco and Jenkins, Suzanne C. and Merriman, Marilyn E. and Wilson, Amanda J. and McKinney, Patricia A. and Bosi, Emanuele and Joner, Geir and Ronningen, Kjersti Skjold and Thorsby, Erik and Undlien, Dag Erik and Merriman, Tony R. and Barnett, Anthony H. and Bain, Stephen Charles and Todd, John A. (1997) Evidence for a type 1 diabetes susceptibility locus (IDDM10) on human chromosome 10p11-q11. Human Molecular Genetics, Vol. 6 (7), p. 1011-1016. eISSN 1460-2083. Article.

Sanna, Serena and Pitzalis, Maristella and Zoledziewska, Magdalena and Zara, Ilenia and Sidore, Carlo and Murru, Raffaele and Whalen, Michael B. and Busonero, Fabio and Maschio, Andrea and Costa, Gianna and Melis, Maria Cristina and Deidda, Francesca and Poddie, Fausto Pier'Angelo and Morelli, Laura Cornelia Clotilde and Farina, Gabriele and Li, Yun and Dei, Mariano and Lai, Sandra and Mulas, Antonella and Cuccuru, Gianmauro and Porcu, Elenora and Liang, Liming and Zavattari, Patrizia and Moi, Loredana and Deriu, Elisa and Urru, M. Francesca and Bajorek, Michele and Satta, Maria Anna and Cocco, Eleonora and Ferrigno, Paola and Sotgiu, Stefano and Pugliatti, Maura and Traccis, Sebastiano and Angius, Andrea and Melis, Maurizio and Rosati, Giulio and Abecasis, Gonçalo and Uda, Manuela and Marrosu, Maria Giovanna and Schlessinger, David and Cucca, Francesco (2010) Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis. Nature Genetics, Vol. 42 (6), p. 495-497. eISSN 1546-1718. Article.

Sapone, Anna and De Magistris, Laura and Pietzak, Michelle M. and Clemente, Maria Grazia and Tripathi, Amit and Cucca, Francesco and Lampis, Rosanna and Kryszak, Deborah and Cartenì, Maria and Generoso, Maddalena and Iafusco, Dario and Prisco, Francesco and Laghi, Francesca and Riegler, Gabriele and Carratù, Romano and Counts, Debra and Fasano, Alessio (2006) Zonulin upregulation is associated with increased gut permeability in subjects with type 1 diabetes and their relatives. Diabetes, Vol. 55 (5), p. 1443-1449. ISSN 0012-1797. Article.

Schirru, Enrico and Corona, Valeria and Usai Satta, Paolo and Scarpa, Maria and Cucca, Francesco and De Virgiliis, Stefano and Rossino, Rossano and Frau, Fulvia and Macis, Maria Doloretta and Jores, Rita-Désirée and Congia, Mauro (2007) Decline of lactase activity and C/T-13910 variant in Sardinian childhood. Journal of Pediatric Gastroenterology and Nutrition, Vol. 45 (4), p. 503-506. eISSN 1536-4801. Article.

Schirru, Enrico and Corona, Valeria and Usai Satta, Paolo and Scarpa, Maria and Oppia, Francesco and Loriga, Francesco and Cucca, Francesco and De Virgiliis, Stefano and Rossino, Rossano and Macis, Maria Doloretta and Jores, Rita Désirée and Congia, Mauro (2007) Genetic testing improves the diagnosis of adult type hypolactasia in the Mediterranean population of Sardinia. European Journal of Clinical Nutrition, Vol. 61 (10), p. 1220-1225. eISSN 1476-5640. Article.

Sellaroli, Valentina and Cucca, Francesco and Santosuosso, Amedeo (2007) Shared genetic data and the rights of involved people. Law and Human Genome Review = Revista de Derecho y Genoma Humano, Vol. 26 , p. 193-231. ISSN 1134-7198. Article.

Silengo, Margherita and Rulli, Immacolata and Delmonaco, Angelo Giovanni and Ferrero, Giovanni Battista and Pucci, Angela and Sanna, Remonda (2005) Truncus arteriosus and isochromosome 8q. American Journal of Medical Genetics Part A, Vol. 133A (2), p. 223-224. eISSN 1552-4833. Article.

Thomson, G. and Valdes, A. M. and Noble, J. A. and Kockum, I. and Grote, M. N. and Najman, J. and Erlich, H. A. and Cucca, Francesco and Pugliese, A. and Steenkiste, A. and Dorman, J. S. and Caillat-Zucman, S. and Hermann, R. and Ilonen, J. and Lambert, A. P. and Bingley, P. J. and Gillespie, K. M. and Lernmark, Å. and Sanjeevi, C. B. and Rønningen, K. S. and Undlien, D. E. and Thorsby, E. and Petrone, A. and Buzzetti, R. and Koeleman, B. P. C. and Roep, B. O. and Saruhan-Direskeneli, G. and Uyar, F. A. and Günoz, H. and Gorodezky, C. and Alaez, C. and Boehm, B. O. and Mlynarski, W. and Ikegami, H. and Berrino, M. and Fasano, M. E. and Dametto, E. and Israel, S. and Brautbar, C. and Santiago-Cortes, A. and Frazer de Llado, T. and She, J. X. and Bugawan, T. L. and Rotter, J. I. and Raffel, L. and Zeidler, A. and Leyva-Cobian, F. and Hawkins, B. R. and Chan, S. H. and Castano, L. and Pociot, F. and Nerup, J. (2007) Relative predispositional effects of HLA class II DRB1-DQB1 haplotypes and genotypes on type 1 diabetes: a meta-analysis. Tissue Antigens, Vol. 70 (2), p. 110-127. eISSN 1399-0039. Article.

Tore, Silvia and Casula, Stefania and Casu, Giuseppina and Concas, Maria Pina and Pistidda, Paola and Persico, Ivana and Sassu, Alessandro and Maestrale, Giovanni Battista and Mele, Caterina and Caruso, Maria Rosa and Bonerba, Bibiana and Usai, Paolo and Deiana, Ivo and Thornton, Thimoty and Pirastu, Mario and Forabosco, Paola (2011) Application of a new method for GWAS in a related case/control sample with known pedigree structure: identification of new loci for nephrolithiasis. Plos Genetics, Vol. 7 (1), e1001281. ISSN 1553-7390. Article.

Ueda, Hironori and Howson, Joanna M. M. and Esposito, Laura and Heward, Joanne and Snook, Hywel and Chamberlain, Giselle and Rainbow, Daniel B. and Hunter, Kara M. D. and Smith, Annabel N. and Di Genova, Gianfranco and Herr, Mathias H. and Dahlman, Ingrid and Payne, Felicity and Smyth, Deborah and Lowe, Christopher and Twells, Rebecca C. J. and Howlett, Sarah and Healy, Barry and Nutland, Sarah and Rance, Helen E. and Everett, Vin and Smink, Luc J. and Lam, Alex C. and Cordell, Heather J. and Walker, Neil M. and Bordin, Cristina and Hulme, John and Motzo, Costantino and Cucca, Francesco and Hess, J. Fred and Metzker, Michael L. and Rogers, Jane and Gregory, Simon and Allahabadia, Amit and Nithiyananthan, Ratnasingam and Tuomilehto Wolf, Eva and Tuomilehto, Jaakko and Bingley, Polly and Gillespie, Kathleen M. and Undlien, Dag Erik and Rønningen, Kjersti Skjold and Guja, Cristian and Ionescu Tirgoviste, Constantin and Savage, David A. and Maxwell, Alexander Peter and Carson, Dennis J. and Patterson, Christopher C. and Franklyn, Jayne A. and Clayton, David G. and Peterson, Laurence B. and Wicker, Linda S. and Todd, John A. and Gough, Stephen C. L. (2003) Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease. Nature, Vol. 423 (6939), p. 506-511. eISSN 1476-4687. Article.

Vang, Torkel and Congia, Mauro and Macis, Maria Doloretta and Musumeci, Lucia and Orrù, Valeria and Zavattari, Patrizia and Nika, Konstantina and Tautz, Lutz and Taskén, Kjetil and Cucca, Francesco and Mustelin, Tomas and Bottini, Nunzio (2005) Autoimmune-associated lymphoid tyrosine phosphatase is a gain-of-function variant. Nature Genetics, Vol. 37 (12), p. 1317-1319. eISSN 1546-1718. Article.

Zavattari, Patrizia and Deidda, Elisabetta and Pitzalis, Maristella and Zoa, Barbara and Moi, Loredana and Lampis, Rosanna and Contu, Daniela and Motzo, Costantino and Frongia, Patrizia and Angius, Efisio and Maioli, Mario and Todd, John A. and Cucca, Francesco (2004) No association between variation of the FOXP3 gene and common type 1 diabetes in the Sardinian population. Diabetes, Vol. 53 (7), p. 1911-1914. ISSN 0012-1797. Article.

Zavattari, Patrizia and Deidda, Elisabetta and Whalen, Michael B. and Lampis, Rosanna and Mulargia, Annapaola and Loddo, Miriam and Eaves, Iain A. and Mastio, Giuseppe and Todd, John A. and Cucca, Francesco (2000) Major factors influencing linkage disequilibrium by analysis of different chromosome regions in distinct populations: demography, chromosome recombination frequency and selection. Human Molecular Genetics, Vol. 9 (20), p. 2947-2958. eISSN 1460-2083. Article.

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Zavattari, Patrizia and Lampis, Rosanna and Motzo, Costantino and Loddo, Miriam and Mulargia, Annapaola and Whalen, Michael B. and Maioli, Mario and Angius, Efisio and Todd, John A. and Cucca, Francesco (2001) Conditional linkage disequilibrium analysis of a complex disease superlocus, IDDM1 in the HLA region, reveals the presence of independent modifying gene effects influencing the type 1 diabetes risk encoded by the major HLA-DBQ1, -DRB1 disease loci. Human Molecular Genetics, Vol. 10 (8), p. 881-889. eISSN 1460-2083. Article.

Zavattari, Patrizia and Lampis, Rosanna and Mulargia, Annapaola and Loddo, Miriam and Angius, Efisio and Todd, John A. and Cucca, Francesco (2000) Confirmation of the DRB1-DQB1 loci as the major component of IDDM1 in the isolated founder population of Sardinia. Human Molecular Genetics, Vol. 9 (20), p. 2967-2972. eISSN 1460-2083. Article.

Zoledziewska, Magdalena and Costa, Gianna and Pitzalis, Maristella and Cocco, Eleonora and Melis, Maria Cristina and Moi, Loredana and Zavattari, Patrizia and Murru, Raffaele and Lampis, Rosanna and Morelli, Laura Cornelia Clotilde and Poddie, Fausto Pier'Angelo and Frongia, Patrizia and Pusceddu, Pierpaolo and Bajorek, Michele and Marras, A. and Satta, Maria Anna and Chessa, A. and Pugliatti, Maura and Sotgiu, Stefano and Whalen, Michael B. and Rosati, Giulio and Cucca, Francesco and Marrosu, Maria Giovanna (2009) Variation within the CLEC16A gene shows consistent disease association with both multiple sclerosis and type 1 diabetes in Sardinia. Genes and Immunity, Vol. 10 (1), p. 15-17. eISSN 1476-5470. Article.

Zoledziewska, Magdalena and Perra, Chiara and Orrù, Valeria and Moi, Loredana and Frongia, Anna Paola and Congia, Mauro and Bottini, Nunzio and Cucca, Francesco (2008) Further evidence of a primary, causal association of the PTPN22 620W variant with type 1 diabetes. Diabetes, Vol. 57 (1), p. 229-234. ISSN 0012-1797. Article.

Book Section

Contu, Daniela and Cucca, Francesco (2005) Susceptibility to type 1 diabetes: genes and mechanisms. In: Chiarelli, Francesco and Dahl-Jørgensen, Knut and Kiess, Wieland (eds). Diabetes in childhood and adolescence. Basel, Karger. p. 28-56. (Pediatric and adolescent medicine, 10). eISBN 978-3-318-01099-2. Book Section.

Doctoral Thesis

Berutti, Riccardo (2014) A Low-pass sequencing approach to phylogenetic analysis: reconstructing Sardinian and European demographic history with a panel of 1200 Y-chromosome samples. Doctoral Thesis.

Cambosu, Francesca (2012) Citogenetica molecolare in oncoematologia. Doctoral Thesis.

Deidda, Francesca (2012) Sequenziamento e studi di associazione su tutto il genoma per svelare i geni di suscettibilità al diabete di tipo 1. Doctoral Thesis.

Dessì, Veronica (2012) La Metodica Next Generation Sequencing nella diagnosi di ritardo mentale sindromico: presentazione di due famiglie. Doctoral Thesis.

Loi, Alessia (2014) Analisi genetica e caratterizzazione funzionale del gene CBL-B associato alla predisposizione nella sclerosi multipla. Doctoral Thesis. Item availablity restricted.

Pala, Mauro (2014) Analysis of qualitative and quantitative expressed traits in the Sardinian population using Next Generation Sequencing. Doctoral Thesis. Item availablity restricted.

Pitzalis, Maristella (2012) La Sclerosi Multipla: approcci per identificare loci coinvolti nella patogenesi: sequenziamento low-pass e studio di associazione su tutto il genoma in Sardegna. Doctoral Thesis.

Ulgheri, Lucia (2012) Valutazione dell’attività di un servizio di genetica clinica: problemi e prospettive. Doctoral Thesis.

This list was generated on Sun Sep 21 15:33:20 2014 CEST.