Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Slavica Trajkova"'
Autor:
Kathleen Rooney, Liselot van der Laan, Slavica Trajkova, Sadegheh Haghshenas, Raissa Relator, Peter Lauffer, Niels Vos, Michael A. Levy, Nicola Brunetti-Pierri, Gaetano Terrone, Cyril Mignot, Boris Keren, Thierry B. de Villemeur, Catharina M.L. Volker-Touw, Nienke Verbeek, Jasper J. van der Smagt, Renske Oegema, Alfredo Brusco, Giovanni B. Ferrero, Mala Misra-Isrie, Ron Hochstenbach, Mariëlle Alders, Marcel M.A.M. Mannens, Bekim Sadikovic, Mieke M. van Haelst, Peter Henneman
Publikováno v:
Rooney, K, van der Laan, L, Trajkova, S, Haghshenas, S, Relator, R, Lauffer, P, Vos, N, Levy, M A, Brunetti-Pierri, N, Terrone, G, Mignot, C, Keren, B, de Villemeur, T B, Volker-Touw, C M L, Verbeek, N, van der Smagt, J J, Oegema, R, Brusco, A, Ferrero, G B, Misra-Isrie, M, Hochstenbach, R, Alders, M, Mannens, M M A M, Sadikovic, B, van Haelst, M M & Henneman, P 2023, ' DNA methylation episignature and comparative epigenomic profiling of HNRNPU-related neurodevelopmental disorder ', Genetics in Medicine, vol. 25, no. 8, 100871 . https://doi.org/10.1016/j.gim.2023.100871
Genetics in Medicine, 25(8):100871. Lippincott Williams and Wilkins
Genetics in Medicine, 25(8):100871. Lippincott Williams and Wilkins
Purpose: HNRNPU haploinsufficiency is associated with Developmental and Epileptic Encephalopathy 54. This neurodevelopmental disorder is characterized by developmental delay, intellectual disability, speech impairment, and early onset epilepsy. We pe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b39a7c8d2d6a6e8f7ab2a18415690426
https://research.vumc.nl/en/publications/51994147-a11d-4536-a701-74fa408fd4a8
https://research.vumc.nl/en/publications/51994147-a11d-4536-a701-74fa408fd4a8
Autor:
Roberto Keller, Enrico Grosso, Silvia De Rubeis, Joseph D. Buxbaum, Elisa Giorgio, Alfredo Brusco, Francesca Clementina Radio, Lisa Pavinato, Paola Dimartino, Aleksandar Petlichkovski, Tommaso Pippucci, Giovanni Battista Ferrero, Marco Tartaglia, Slavica Trajkova, Alessandro Bruselles
Publikováno v:
American Journal of Medical Genetics Part A.
De novo variants in the WDR26 gene leading to haploinsufficiency have recently been associated with Skraban-Deardorff syndrome. This condition is an ultra-rare autosomal dominant neurodevelopmental disorder characterized by a broad range of clinical
Autor:
Susan M. White, Peter Penzes, Felicitas Maier, Tjitske Kleefstra, Stephen A. Wood, Sehoun Yoon, Donald Basel, Jozef Gecz, Mark A. Corbett, Michael C. Schneider, Sandra Whalen, Slavica Trajkova, Marie Shaw, Elena Sukarova-Angelovska, Euan Parnell, Alison Gardner, Andrea Guerin, Pranoot Tanpaiboon, Gaetan Lesca, Kenneth Rosenbaum, Julie McCarrier, Alfredo Brusco, Sébastien Küry, Martin B. Delatycki, Boris Keren, Catherine E. Keegan, Kathleen Crosby, Michael Piper, Lachlan A. Jolly, Courtney Kiss, Luis A. Pérez-Jurado, Emily Griffin, Simon Sadedin
Publikováno v:
NPJ Genomic Medicine, 5
NPJ Genomic Medicine
NPJ Genomic Medicine, 5, 1
npj Genomic Medicine, Vol 5, Iss 1, Pp 1-11 (2020)
NPJ Genomic Medicine
NPJ Genomic Medicine, 5, 1
npj Genomic Medicine, Vol 5, Iss 1, Pp 1-11 (2020)
USP9X is an X-chromosome gene that escapes X-inactivation. Loss or compromised function of USP9X leads to neurodevelopmental disorders in males and females. While males are impacted primarily by hemizygous partial loss-of-function missense variants,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3bffc7dccfc1912370beae4e7f9743f4
http://hdl.handle.net/10230/46165
http://hdl.handle.net/10230/46165
Autor:
Geoffroy Delplancq, Eleonora Di Gregorio, Giovanni Battista Ferrero, Alfredo Brusco, Diana Carli, Paul Kuentz, Slavica Trajkova, Lisa Pavinato
Publikováno v:
Brain Sciences
Brain Sciences, Vol 10, Iss 788, p 788 (2020)
Brain Sciences, Vol 10, Iss 788, p 788 (2020)
Potocki-Shaffer syndrome (PSS) is a rare non-recurrent contiguous gene deletion syndrome involving chromosome 11p11.2. Current literature implies a minimal region with haploinsufficiency of three genes, ALX4 (parietal foramina), EXT2 (multiple exosto