Emotion-related learning in individuals prenatally exposed to alcohol: an investigation of the relation between set shifting, extinction of responses, and behavior

Autor: Kodituwakku, Piyadasa W ^*, May, Philip A, Clericuzio, Carol L, Weers, David

Publikováno v: In Neuropsychologia 2001 39(7):699-708

A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome

Autor: Twigg, Stephen RF, Hufnagel, Robert B, Miller, Kerry A, Zhou, Yan, McGowan, Simon J, Taylor, John, Craft, Jude, Taylor, Jenny C, Santoro, Stephanie L, Huang, Taosheng, Hopkin, Robert J, Brady, Angela F, Clayton-Smith, Jill, Clericuzio, Carol L, Grange, Dorothy K, Groesser, Leopold, Hafner, Christian, Horn, Denise, Temple, I Karen, Dobyns, William B, Curry, Cynthia J, Jones, Marilyn C, Wilkie, Andrew OM

Publikováno v: Twigg, S R F, Hufnagel, R B, Miller, K A, Zhou, Y, McGowan, S J, Taylor, J, Craft, J, Taylor, J C, Santoro, S L, Huang, T, Hopkin, R J, Brady, A F, Clayton-Smith, J, Clericuzio, C L, Grange, D K, Groesser, L, Hafner, C, Horn, D, Temple, I K, Dobyns, W B, Curry, C J, Jones, M C & Wilkie, A O M 2016, ' A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome ', American Journal of Human Genetics, vol. 98, no. 6, pp. 1256-1265 . https://doi.org/10.1016/j.ajhg.2016.04.007
American journal of human genetics, vol 98, iss 6

Curry-Jones syndrome (CJS) is a multisystem disorder characterized by patchy skin lesions, polysyndactyly, diverse cerebral malformations, unicoronal craniosynostosis, iris colobomas, microphthalmia, and intestinal malrotation with myofibromas or ham

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::6b9c1333a884754c29adbf4f6d4dc1d4
https://pubmed.ncbi.nlm.nih.gov/27236920

Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5

Autor: Hurst, Jane A., Fryer, Alan, Devriendt, Koenraad, Scott, Richard H., Leroy, Jules G., Krapels, Ingrid P.C., Aracena, Mariana I., Plant, Gordon T., Gildersleeve, Heidi I.S., Everman, David B., Curry, Cynthia J., Buckingham, Kati J., Aylsworth, Arthur S., Giovannucci Uzielli, Maria Luisa, Chong, Jessica X., McMillin, Margaret J., Seaver, Laurie H., Beck, Anita E., Clericuzio, Carol L., Heidenreich, Randall A., Crow, Yanick J., Shively, Kathryn M., Hecht, Jacqueline T., Hall, Judith G., Carey, John C., Gibson, Kate, Mowat, David, Schorry, Elizabeth K., Graham, John M., Bitoun, Pierre, Robertson, Stephen P., Irani, Sarosh

Gordon syndrome (GS), or distal arthrogryposis type 3, is a rare, autosomal-dominant disorder characterized by cleft palate and congenital contractures of the hands and feet. Exome sequencing of five GS-affected families identified mutations in piezo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::3e94d54200346d94de91f3cdea7615c9

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