Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism

Autor: Chopra, M., McEntagart, M., Clayton-Smith, J., Platzer, K., Shukla, A., Girisha, K.M., Kaur, A., Kaur, P., Pfundt, R., Veenstra-Knol, H., Mancini, G.M.S., Cappuccio, G., Brunetti-Pierri, N., Kortum, F., Hempel, M., Denecke, J., Lehman, A., Kleefstra, T., Stuurman, K.E., Wilke, M., Thompson, M.L., Bebin, E.M., Bijlsma, E.K., Hoffer, M.J.V., Peeters-Scholte, C., Slavotinek, A., Weiss, W.A., Yip, T., Hodoglugil, U., Whittle, A., Monda, J., Neira, J., Yang, S., Kirby, A., Pinz, H., Lechner, R., Sleutels, F., Helbig, I., McKeown, S., Helbig, K., Willaert, R., Juusola, J., Semotok, J., Hadonou, M., Short, J., Yachelevich, N., Lala, S., Fernandez-Jaen, A., Pelayo, J.P., Klockner, C., Kamphausen, S.B., Abou Jamra, R., Arelin, M., Innes, A.M., Niskakoski, A., Amin, S., Williams, M., Evans, J., Smithson, S., Smedley, D., Burca, A., Kini, U., Delatycki, M.B., Gallacher, L., Yeung, A., Pais, L., Field, M., Martin, E., Charles, P., Courtin, T., Keren, B., Iascone, M., Cereda, A., Poke, G., Abadie, V., Chalouhi, C., Parthasarathy, P., Halliday, B.J., Robertson, S.P., Lyonnet, S., Amiel, J., Gordon, C.T., CAUSES Study, Genomics England Res Consortium

Publikováno v: American Journal of Human Genetics, 108, 1138-1150
American Journal of Human Genetics, 108, 6, pp. 1138-1150
Am J Hum Genet
American Journal of Human Genetics, 108(6), 1138-1150. Cell Press
American Journal of Human Genetics, 108(6), 1138-1150. CELL PRESS

ANKRD17 is an ankyrin repeat-containing protein thought to play a role in cell cycle progression, whose ortholog in Drosophila functions in the Hippo pathway as a co-factor of Yorkie. Here, we delineate a neurodevelopmental disorder caused by de novo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0aad380f9aaa6b9e305df2f86f3fae1
https://doi.org/10.1016/j.ajhg.2021.04.007

Infection sévère à paréchovirus de type 3 chez un nourrisson de 6 semaines

Autor: Ollier, V., Farfour, E., Charara, O., Marque Juillet, S., Mirand, A., Chalouhi, C., Foucaud, P.

Publikováno v: In Archives de pédiatrie April 2014 21(4):399-401

Douleurs abdominales du jeune enfant. Pièges et diagnostics

Autor: Chéron, G., Faesch, S., Chalouhi, C.

Publikováno v: In Archives de pédiatrie 2006 13(6):814-816

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Neurological consequences of vitamin B12 deficiency and its treatment.

Autor: Chalouhi C, Faesch S, Anthoine-Milhomme M, Fulla Y, Dulac O, Chéron G

Publikováno v: Pediatric Emergency Care; 2008 Aug, Vol. 24 Issue 8, p538-541, 4p