Additional file 1 of Distinct, dosage-sensitive requirements for the autism-associated factor CHD8 during cortical development

Autor: Hurley, Shaun, Mohan, Conor, Suetterlin, Philipp, Ellingford, Robert, Riegman, Kimberley L. H., Ellegood, Jacob, Caruso, Angela, Michetti, Caterina, Brock, Olivier, Evans, Romy, Rudari, Fabrizio, Delogu, Alessio, Scattoni, Maria Luisa, Lerch, Jason P., Fernandes, Cathy, Basson, M. Albert

Additional file 1: Supplementary information.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22ceb12fc2c5c7c38b73df162276e987

Distinct cerebellar foliation anomalies in a Chd7 haploinsufficient mouse model of CHARGE syndrome

Autor: Whittaker, Danielle, Kasah, Sahrunizam, Donovan, Alex, Ellegood, Jacob, Riegman, Kimberley, Volk, Holger A., McGonnell, Imelda M., Lerch, Jason P, Basson, Albert

Publikováno v: Whittaker, D, Kasah, S, Donovan, A, Ellegood, J, Riegman, K, Volk, H A, McGonnell, I M, Lerch, J P & Basson, A 2017, ' Distinct cerebellar foliation anomalies in a Chd7 haploinsufficient mouse model of CHARGE syndrome ', American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, pp. 465-477 . https://doi.org/10.1002/ajmg.c.31595

Mutations in the gene encoding the ATP dependent chromatin-remodeling factor, CHD7 are the major cause of CHARGE (Coloboma, Heart defects, Atresia of the choanae, Retarded growth and development, Genital-urinary anomalies, and Ear defects) syndrome.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2761::c5130dfd3c64e66cfc201f6fc60ea729
https://kclpure.kcl.ac.uk/ws/files/83392409/Distinct_cerebellar_foliation_anomalies_WHITTAKER_Firstonline23November2017_GOLD_VoR_CC_BY_.pdf

The chromatin remodeling factor CHD7 controls cerebellar development by regulating reelin expression

Autor: Whittaker, Danielle E., Riegman, Kimberley L.H., Kasah, Sahrunizam, Mohan, Conor, Yu, Tian, Sala, Blanca Pijuan, Hebaishi, Husam, Caruso, Angela, Marques, Ana Claudia, Michetti, Caterina, Smachetti, María Eugenia Sanz, Shah, Apar, Sabbioni, Mara, Kulhanci, Omer, Tee, Wee-Wei, Reinberg, Danny, Scattoni, Maria Luisa, Volk, Holger, McGonnell, Imelda, Wardle, Fiona C., Fernandes, Cathy, Basson, M. Albert

Publikováno v: The Journal of Clinical Investigation
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
Journal of Clinical Investigation
The Journal of clinical investigation, vol. 127, no. 3, pp. 874-887
Whittaker, D E, Riegman, K L H, Kasah, S, Mohan, C, Yu, T, Sala, B P, Hebaishi, H, Caruso, A, Marques, A C, Michetti, C, Smachetti, M E S, Shah, A, Sabbioni, M, Kulhanci, O, Tee, W W, Reinberg, D, Scattoni, M L, Volk, H, McGonnell, I, Wardle, F C, Fernandes, C & Basson, M A 2017, ' The chromatin remodeling factor CHD7 controls cerebellar development by regulating reelin expression ', Journal of Clinical Investigation, vol. 127, no. 3, pp. 874-887 . https://doi.org/10.1172/JCI83408

The mechanisms underlying the neurodevelopmental deficits associated with CHARGE syndrome, which include cerebellar hypoplasia, developmental delay, coordination problems, and autistic features, have not been identified. CHARGE syndrome has been asso

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::c29817b5ea06fb925604619a198d7923
https://www.jci.org/articles/view/83408

Distinct cerebellar foliation anomalies in a CHD7 haploinsufficient mouse model of CHARGE syndrome.

Autor: Whittaker, Danielle E., Kasah, Sahrunizam, Donovan, Alex P. A., Ellegood, Jacob, Riegman, Kimberley L. H., Volk, Holger A., McGonnell, Imelda, Lerch, Jason P., Basson, M. Albert

Publikováno v: American Journal of Medical Genetics. Part C: Seminars in Medical Genetics; Dec2017, Vol. 175 Issue 4, pn/a-N.PAG, 13p

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