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Intellectual developmental disorder with cardiac arrhythmia syndrome in a child with compound heterozygous GNB5 variants

Autor: Alexandre Reymond, Giuseppe Merla, Ali Fatemi, Rebecca McClellan, Hilary J. Vernon, P. De Nittis, Amy Goldstein, Nicolas Guex, Natascia Malerba, Julie S. Cohen

Publikováno v: Clinical Genetics. 93:1254-1256

Identification of a novel compound heterozygous of GNB5 in a patient with intellectual developmental disorder with cardiac arrhytmia (IDDCA), from non-consaguineous family. Three-dimensional modelling and in silico predictions suggest that GNB5 varia

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9674b5dc356c1f466b024abff921ef18
https://doi.org/10.1111/cge.13194

Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome

Autor: De Nittis P., Efthymiou S., Sarre A., Guex N., Chrast J., Putoux A., Sultan T., Raza Alvi J., Ur Rahman Z., Zafar F., Rana N., Rahman F., Anwar N., Maqbool S., Zaki M. S., Gleeson J. G., Murphy D., Galehdari H., Shariati G., Mazaheri N., Sedaghat A., Lesca G., Chatron N., Salpietro V., Christoforou M., Houlden H., Simonds W. F., Pedrazzini T., Maroofian R., Reymond A., SYNAPS STUDY GROUP: SYNAPS Study Group: Stanislav Groppa, Blagovesta Marinova Karashova, Wolfgang Nachbauer, Sylvia Boesch, Larissa Arning, Dagmar Timmann, Bru Cormand, Belen Pérez-Dueñas, Jatinder S Goraya, Tipu Sultan, Jun Mine, Daniela Avdjieva, Hadil Kathom, Radka Tincheva, Selina Banu, Mercedes Pineda-Marfa, Pierangelo Veggiotti, Michel D. Ferrari, Arn M. J. M. van den Maagdenberg, Alberto Verrotti, Giangluigi Marseglia, Salvatore Savasta, Mayte García-Silva, Alfons Macaya Ruiz, Barbara Garavaglia, Eugenia Borgione, Simona Portaro, Benigno Monteagudo Sanchez, Richard Boles, Savvas Papacostas, Michail Vikelis, Eleni Zamba Papanicolaou, Efthymios Dardiotis, Shazia Maqbool, Shahnaz Ibrahim, Salman Kirmani, Nuzhat Noureen Rana, Osama Atawneh, George Koutsis, Salvatore Mangano, Carmela Scuderi, Giovanna Morello, Tanya Stojkovic, Massimo Zollo, Gali Heimer, Yves A. Dauvilliers, Pasquale Striano, Issam Al-Khawaja, Fuad Al-Mutairi, Hamed Sherifa.

Publikováno v: Dipòsit Digital de la UB
Universidad de Barcelona
Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, In press, ⟨10.1136/jmedgenet-2020-107015⟩

BackgroundPathogenic variants of GNB5 encoding the β5 subunit of the guanine nucleotide-binding protein cause IDDCA syndrome, an autosomal recessive neurodevelopmental disorder associated with cognitive disability and cardiac arrhythmia, particularl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c9ebc9c3b81e32161c102409b0091df
https://doi.org/10.1136/jmedgenet-2020-107015

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IDDCA syndrome in a Chinese infant due to GNB5 biallelic mutations.

Autor: Tang M; Pediatric Intensive Care Unit, Anhui Provincial Children's Hospital, Hefei, 230029, PR China., Wang Y; Beijing Chigene Translational Medicine Research Center Co., Ltd, Beijing, 100875, PR China., Xu Y; Pediatric Intensive Care Unit, Anhui Provincial Children's Hospital, Hefei, 230029, PR China., Tong W; Pediatric Intensive Care Unit, Anhui Provincial Children's Hospital, Hefei, 230029, PR China., Jin D; Pediatric Intensive Care Unit, Anhui Provincial Children's Hospital, Hefei, 230029, PR China. jindq69@163.com., Yang XA; School of Basic Medical Science, Chengde Medical University, Chengde, 067000, PR China. yangxiuan07@mails.ucas.edu.cn.

Publikováno v: Journal of human genetics [J Hum Genet] 2020 Jul; Vol. 65 (7), pp. 627-631. Date of Electronic Publication: 2020 Mar 16.