Different Strategies In the Treatment of Dihydropteridine Reductase Deficiency

Autor: Spada M., Blau N., Meli C., Ferrero G. B., de Sanctis L., Ferraris S., Ponzone A.

Publikováno v: Pteridines, Vol 7, Iss 3, Pp 107-109 (1996)

Externí odkaz: https://doaj.org/article/48e292a33db6454392143a72eae98a49

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Rare coding variation provides insight into the genetic architecture and phenotypic context of autism

Autor: J. M., Fu, Satterstrom, F. K., Peng, M., Brand, H., Collins, R. L., Dong, S., Wamsley, B., Klei, L., Wang, L., Hao, S. P., Stevens, C. R., Cusick, C., Babadi, M., Banks, E., Collins, B., Dodge, S., Gabriel, S. B., Gauthier, L., Lee, S. K., Liang, L., Ljungdahl, A., Mahjani, B., Sloofman, L., Smirnov, A. N., Barbosa, M., Betancur, C., Brusco, A., Chung, B. H. Y., Cook, E. H., Cuccaro, M. L., Domenici, E., Ferrero, G. B., Gargus, J. J., Herman, G. E., Hertz-Picciotto, I., Maciel, P., Manoach, D. S., Passos-Bueno, M. R., Persico, A., Renieri, A., Sutcliffe, J. S., Tassone, F., Trabetti, E., Campos, G., Cardaropoli, S., Carli, D., Chan, M. C. Y., Fallerini, C., Giorgio, E., Girardi, A. C., Hansen-Kiss, E., Lee, S. L., Lintas, C., Ludena, Y., Nguyen, R., Pavinato, L., Pericak-Vance, M., Pessah, I. N., Schmidt, R. J., Smith, M., Costa, C. I. S., Trajkova, S., Wang, J. Y. T., M. H. C., Yu, Aleksic, B., Artomov, M., Benetti, E., Biscaldi-Schafer, M., Borglum, A. D., Carracedo, A., Chiocchetti, A. G., Coon, H., Doan, R. N., Fernandez-Prieto, M., Freitag, C. M., Gerges, S., Guter, S., Hougaard, D. M., Hultman, C. M., Jacob, S., Kaartinen, M., Kolevzon, A., Kushima, I., Lehtimaki, T., Rizzo, C. L., Maltman, N., Manara, M., Meiri, G., Menashe, I., Miller, J., Minshew, N., Mosconi, M., Ozaki, N., Palotie, A., Parellada, M., Puura, K., Reichenberg, A., Sandin, S., Scherer, S. W., Schlitt, S., Schmitt, L., Schneider-Momm, K., Siper, P. M., Suren, P., Sweeney, J. A., Teufel, K., del Pilar Trelles, M., Weiss, L. A., Yuen, R., Cutler, D. J., De Rubeis, S., Buxbaum, J. D., Daly, M. J., Devlin, B., Roeder, K., Sanders, S. J., Talkowski, M. E.

Publikováno v: Nature genetics, vol 54, iss 9
Nature Genetics
Nature Genetics, 2022, 54 (9), pp.1320-1331. ⟨10.1038/s41588-022-01104-0⟩
Nat Genet
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP

International audience; Some individuals with autism spectrum disorder (ASD) carry functional mutations rarely observed in the general population. We explored the genes disrupted by these variants from joint analysis of protein-truncating variants (P

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e272fcce2991b63297b66fd9e9849ad8
http://hdl.handle.net/11562/1073647

BULLOUS PILOMATRIXOMA

Autor: Garofalo, S., Guana, R., Scottoni, F., Cortese, M. G., Cerrina, A., Linari, A., Carli, D., Ferrero, G. B., Gennari, F.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______970::b371a3c53bd7fc0e62de776daee2afa6
http://hdl.handle.net/2318/1795635

Recessive gene disruptions in autism spectrum disorder

Autor: Doan, R. N., Lim, E. T., De Rubeis, S., Betancur, C., Cutler, D. J., Chiocchetti, A. G., Overman, L. M., Soucy, A., Goetze, S., Asc, Consortium, Brusco, A., Curró, A., Fallerini, C., Lopergolo, D., Lintas, C., Domenici, E., Dalla Bernardina, B., Ferrero, G. B., Giorgio, E., Trabetti, E., Renieri, A., Riberi, E., Freitag, C. M., Daly, M. J., Walsh, C. A., Buxbaum, J. D., T. W., Yu

Publikováno v: Nature genetics
Nature Genetics
Nature Genetics, 2019, 51 (7), pp.1092-1098. ⟨10.1038/s41588-019-0433-8⟩
Nature Genetics, Nature Publishing Group, 2019, 51 (7), pp.1092-1098. ⟨10.1038/s41588-019-0433-8⟩

Autism spectrum disorder (ASD) affects up to 1 in 59 individuals1. Genome-wide association and large-scale sequencing studies strongly implicate both common variants2–4 and rare de novo variants5–10 in ASD. Recessive mutations have also been impl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb333baad50066166a684bdb41b8d2fb
https://pubmed.ncbi.nlm.nih.gov/31209396