The -75A-->C substitution in the 5' UTR of the Wilson disease gene is a sequence polymorphism in the Mediterranean population.

Autor Loudianos, G, Dessi, V, Lovicu, M, Angius, A, Cao, A, Pirastu, M
Vydáno 1998

Early onset of homozygous betao-thalassaemia associated with neonatal jaundice.

Autor Furbetta, M, Cossu, P, Angius, A, Congiu, G, Ximenes, A, Cao, A
Vydáno 1978

Prenatal diagnosis of beta-thalassaemia by fetal red cell concentration with anti-AB serum.

Autor Furbetta, M, Valenti, C, Ximenes, A, Angius, A, Tuveri, T, Fioretti, P, Cao, A
Vydáno 1979

Prenatal diagnosis of thalassaemia major resulting from Lepore/ beta-thalassaemia genotype.

Autor Furbetta, M, Angius, A, Falchi, A M, Tuveri, T, Tannoia, Pertosa, A P, Cao, A
Vydáno 1981

alpha-Thalassaemia in Sardinian infants.

Autor Galanello, R, Diana, G, Furbetta, M, Angius, A, Melis, M A, Rosatelli, C, Cao, A
Vydáno 1980

Delta beta (F)-thalassaemia in Sardinia.

Autor Cao, A, Melis, M A, Galanello, R, Angius, A, Furbetta, M, Giordano, P, Bernini, L F
Vydáno 1982

beta zero thalassemia in Sardinia is caused by a nonsense mutation.

Autor Trecartin, R F, Liebhaber, S A, Chang, J C, Lee, K Y, Kan, Y W, Furbetta, M, Angius, A, Cao, A
Vydáno 1981

Haematological and obstetric aspects of antenatal diagnosis of beta-thalassaemia: experience with 200 cases.

Autor Cao, A, Furbetta, M, Angius, A, Ximenes, A, Rosatelli, C, Tuveri, T, Scalas, M T, Falchi, A M, Angioni, G, Caminiti, F
Vydáno 1982

Beta-Thalassaemia types in southern Sardinia.

Autor Cao, A, Furbetta, M, Ximenes, A, Angius, A, Rosatelli, C, Tuveri, T, Scalas, M T, Falchi, A M, Maccioni, L, Melis, M A, Galanello, R
Vydáno 1981

Prevention of homozygous beta-thalassemia by carrier screening and prenatal diagnosis in Sardinia.

Autor Cao, A, Furbetta, M, Galanello, R, Melis, M A, Angius, A, Ximenes, A, Rosatelli, C, Ruggeri, R, Addis, M, Tuveri, T, Falchi, A M, Paglietti, E, Scalas, M T
Vydáno 1981

Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations

Autor Loudianos, G., Dessi, V., Lovicu, M., Angius, A., Altuntas, B., Giacchino, R., Marazzi, M., Marcellini, M., Sartorelli, M. R., Sturniolo, G. C., Kocak, N., Yuce, A., Akar, N., Pirastu, M., Cao, A.
Vydáno 1999

Identification of a founder BRCA2 mutation in Sardinia

Autor Pisano, M, Cossu, A, Persico, I, Palmieri, G, Angius, A, Casu, G, Palomba, G, Sarobba, M G, Rocca, P C Ossu, Dedola, M F, Olmeo, N, Pasca, A, Budroni, M, Marras, V, Pisano, A, Farris, A, Massarelli, G, Pirastu, M, Tanda, Francesco
Vydáno 2000

Population and individual-specific regulatory variation in Sardinia

Autor Pala, M., Zappala, Z., Marongiu, M., Li, X., Davis, J.R., Cusano, R., Crobu, F., Kukurba, K.R., Gloudemans, M.J., Reinier, F., Berutti, R., Piras, M.G., Mulas, A., Zoledziewska, M., Marongiu, M., Sorokin, E.P., Hess, G.T., Smith, K.S., Busonero, F., Maschio, A., Steri, M., Sidore, C., Sanna, S., Fiorillo, E., Bassik, M.C., Sawcer, S.J., Battle, A.J., Novembre, J., Jones, C., Angius, A., Abecasis, G.R., Schlessinger, D., Cucca, F., Montgomery, S.B.
Vydáno v Nat Genet (2017)

Population structure of modern-day Italians reveals patterns of ancient and archaic ancestries in Southern Europe

Autor Raveane, A., Aneli, S., Montinaro, F., Athanasiadis, G., Barlera, S., Birolo, G., Boncoraglio, G., Di Blasio, A. M., Di Gaetano, C., Pagani, L., Parolo, S., Paschou, P., Piazza, A., Stamatoyannopoulos, G., Angius, A., Brucato, N., Cucca, F., Hellenthal, G., Mulas, A., Peyret-Guzzon, M., Zoledziewska, M., Baali, A., Bycroft, C., Cherkaoui, M., Chiaroni, J., Di Cristofaro, J., Dina, C., Dugoujon, J. M., Galan, P., Giemza, J., Kivisild, T., Mazieres, S., Melhaoui, M., Metspalu, M., Myers, S., Pereira, L., Ricaut, F. X., Brisighelli, F., Cardinali, I., Grugni, V., Lancioni, H., Pascali, V. L., Torroni, A., Semino, O., Matullo, G., Achilli, A., Olivieri, A., Capelli, C.
Vydáno v Sci Adv (2019)

Overexpression of the Cytokine BAFF and Autoimmunity Risk

Autor Steri, M., Orrù, V., Idda, M.L., Pitzalis, M., Pala, M., Zara, I., Sidore, C., Faà, V., Floris, M., Deiana, M., Asunis, I., Porcu, E., Mulas, A., Piras, M.G., Lobina, M., Lai, S., Marongiu, M., Serra, V., Marongiu, M., Sole, G., Busonero, F., Maschio, A., Cusano, R., Cuccuru, G., Deidda, F., Poddie, F., Farina, G., Dei, M., Virdis, F., Olla, S., Satta, M.A., Pani, M., Delitala, A., Cocco, E., Frau, J., Coghe, G., Lorefice, L., Fenu, G., Ferrigno, P., Ban, M., Barizzone, N., Leone, M., Guerini, F.R., Piga, M., Firinu, D., Kockum, I., Bomfim, I. Lima, Olsson, T., Alfredsson, L., Suarez, A., Carreira, P.E., Castillo-Palma, M.J., Marcus, J.H., Congia, M., Angius, A., Melis, M., Gonzalez, A., Riquelme, M.E.A., da Silva, B.M., Marchini, M., Danieli, M.G., Del Giacco, S., Mathieu, A., Pani, A., Montgomery, S.B., Rosati, G., Hillert, J., Sawcer, S., D'Alfonso, S., Todd, J.A., Novembre, J., Abecasis, G.R., Whalen, M.B., Marrosu, M.G., Meloni, A., Sanna, S., Gorospe, M., Schlessinger, D., Fiorillo, E., Zoledziewska, M., Cucca, F.
Vydáno v N Engl J Med (2017)