Zobrazeno 1 - 10
of 28
pro vyhledávání: '"Ellen van Beusekom"'
Autor:
Neelam Fatima, Lieke Dillen, Marina P. Hommersom, Ece Çepni, Fareeha Fatima, Ellen van Beusekom, Silvia Albert, Asma Ali Khan, Arjan P.M. de Brouwer, Hans van Bokhoven
Publikováno v:
Stem Cell Research, Vol 80, Iss , Pp 103511- (2024)
SGIP1 encodes a protein Src homology 3-domain growth factor receptor-bound 2-like endophilin interacting protein 1. It is involved in the regulation of clathrin-mediated endocytosis along with having a role in energy homeostasis in neuronal systems.
Externí odkaz:
https://doaj.org/article/c039f1eaeebf40228e82dbdfb059aee0
Autor:
Lieke Dillen, Neelam Fatima, Marina P. Hommersom, Ece Çepni, Fareeha Fatima, Ellen van Beusekom, Silvia Albert, Johanna M. van Hagen, Bert B.A. de Vries, Asma Ali Khan, Arjan P.M. de Brouwer, Hans van Bokhoven
Publikováno v:
Stem Cell Research, Vol 77, Iss , Pp 103442- (2024)
Intellectual disability (ID) is a diverse neurodevelopmental condition and almost half of the cases have a genetic etiology. SGIP1 acts as an endocytic protein that influences the signaling of receptors in neuronal systems related to energy homeostas
Externí odkaz:
https://doaj.org/article/ef255a4f758141f388ab86f7f307dfeb
Autor:
Elke de Boer, Carlo Marcelis, Kornelia Neveling, Ellen van Beusekom, Alexander Hoischen, Willemijn M. Klein, Nicole de Leeuw, Tuomo Mantere, Uirá S. Melo, Jeroen van Reeuwijk, Dominique Smeets, Malte Spielmann, Tjitske Kleefstra, Hans van Bokhoven, Lisenka E.L.M. Vissers
Publikováno v:
HGG Advances, Vol 4, Iss 3, Pp 100200- (2023)
Summary: Split-hand/foot malformation (SHFM) is a congenital limb defect most typically presenting with median clefts in hands and/or feet, that can occur in a syndromic context as well as in isolated form. SHFM is caused by failure to maintain norma
Externí odkaz:
https://doaj.org/article/80aa8b4ab3904f01ad8c5057d0e546e2
Autor:
Joe Rainger, Ellen van Beusekom, Jacqueline K Ramsay, Lisa McKie, Lihadh Al-Gazali, Rosanna Pallotta, Anita Saponari, Peter Branney, Malcolm Fisher, Harris Morrison, Louise Bicknell, Philippe Gautier, Paul Perry, Kishan Sokhi, David Sexton, Tanya M Bardakjian, Adele S Schneider, Nursel Elcioglu, Ferda Ozkinay, Rainer Koenig, Andre Mégarbané, C Nur Semerci, Ayesha Khan, Saemah Zafar, Raoul Hennekam, Sérgio B Sousa, Lina Ramos, Livia Garavelli, Andrea Superti Furga, Anita Wischmeijer, Ian J Jackson, Gabriele Gillessen-Kaesbach, Han G Brunner, Dagmar Wieczorek, Hans van Bokhoven, David R FitzPatrick
Publikováno v:
PLoS Genetics, Vol 14, Iss 12, p e1007866 (2018)
[This corrects the article DOI: 10.1371/journal.pgen.1002114.].
Externí odkaz:
https://doaj.org/article/5eacb5aa2aef4ceabdeb674476983ece
Autor:
Joe Rainger, Ellen van Beusekom, Jacqueline K Ramsay, Lisa McKie, Lihadh Al-Gazali, Rosanna Pallotta, Anita Saponari, Peter Branney, Malcolm Fisher, Harris Morrison, Louise Bicknell, Philippe Gautier, Paul Perry, Kishan Sokhi, David Sexton, Tanya M Bardakjian, Adele S Schneider, Nursel Elcioglu, Ferda Ozkinay, Rainer Koenig, Andre Mégarbané, C Nur Semerci, Ayesha Khan, Saemah Zafar, Raoul Hennekam, Sérgio B Sousa, Lina Ramos, Livia Garavelli, Andrea Superti Furga, Anita Wischmeijer, Ian J Jackson, Gabriele Gillessen-Kaesbach, Han G Brunner, Dagmar Wieczorek, Hans van Bokhoven, David R Fitzpatrick
Publikováno v:
PLoS Genetics, Vol 7, Iss 7, p e1002114 (2011)
Ophthalmo-acromelic syndrome (OAS), also known as Waardenburg Anophthalmia syndrome, is defined by the combination of eye malformations, most commonly bilateral anophthalmia, with post-axial oligosyndactyly. Homozygosity mapping and subsequent target
Externí odkaz:
https://doaj.org/article/14f960f7e2974b98bdeb21467c0aa11c
Autor:
Ariadne R. Lima, Barbara M. Ferreira, Chaofan Zhang, Angad Jolly, Haowei Du, Janson J. White, Moez Dawood, Tulio C. Lins, Marcela A. Chiabai, Ellen van Beusekom, Mara S. Cordoba, Erica C.C. Caldas Rosa, Hulya Kayserili, Virginia Kimonis, Erica Wu, Cecilia Mellado, Vineet Aggarwal, Antonio Richieri‐Costa, Décio Brunoni, Talyta M. Canó, Alexander A. L. Jorge, Chong A. Kim, Rachel Honjo, Débora R. Bertola, Raissa M. Dandalo‐Girardi, Yavuz Bayram, Alper Gezdirici, Elif Yilmaz‐Gulec, Evren Gumus, Gülay C. Yilmaz, Nobuhiko Okamoto, Hirofumi Ohashi, Zeynep Coban–Akdemir, Tadahiro Mitani, Shalini N. Jhangiani, Donna M. Muzny, Neysa A.P. Regattieri, Robert Pogue, Rinaldo W. Pereira, Paulo A. Otto, Richard A. Gibbs, Bassam R. Ali, Hans van Bokhoven, Han G. Brunner, V. Reid Sutton, James R. Lupski, Angela M. Vianna‐Morgante, Claudia M. B. Carvalho, Juliana F. Mazzeu
Publikováno v:
Human Mutation. 43
Autor:
Ariadne R. Lima, Barbara M. Ferreira, Chaofan Zhang, Angad Jolly, Haowei Du, Janson J. White, Moez Dawood, Tulio C. Lins, Marcela A. Chiabai, Ellen van Beusekom, Mara S. Cordoba, Erica C.C. Caldas Rosa, Hulya Kayserili, Virginia Kimonis, Erica Wu, Cecilia Mellado, Vineet Aggarwal, Antonio Richieri‐Costa, Décio Brunoni, Talyta M. Canó, Alexander A. L. Jorge, Chong A. Kim, Rachel Honjo, Débora R. Bertola, Raissa M. Dandalo‐Girardi, Yavuz Bayram, Alper Gezdirici, Elif Yilmaz‐Gulec, Evren Gumus, Gülay C. Yilmaz, Nobuhiko Okamoto, Hirofumi Ohashi, Zeynep Coban–Akdemir, Tadahiro Mitani, Shalini N. Jhangiani, Donna M. Muzny, Neysa A.P. Regattieri, Robert Pogue, Rinaldo W. Pereira, Paulo A. Otto, Richard A. Gibbs, Bassam R. Ali, Hans van Bokhoven, Han G. Brunner, V. Reid Sutton, James R. Lupski, Angela M. Vianna‐Morgante, Claudia M. B. Carvalho, Juliana F. Mazzeu
Publikováno v:
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Human Mutation, 43, 7, pp. 900-918
Human Mutation, 43, 900-918
Hum Mutat
Universidade de São Paulo (USP)
instacron:USP
Human Mutation, 43, 7, pp. 900-918
Human Mutation, 43, 900-918
Hum Mutat
Contains fulltext : 252015.pdf (Publisher’s version ) (Open Access) Robinow syndrome is characterized by a triad of craniofacial dysmorphisms, disproportionate-limb short stature, and genital hypoplasia. A significant degree of phenotypic variabili
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89bd78d59d41fce955db143c3c377ec2
Autor:
Kaare Christensen, Marie José H. Van Den Boogaard, Volker Dötsch, Ozan Topaloglu, Alexander Hoischen, Kriti D. Khandelwal, Jakob Gebel, Ellen van Beusekom, Nel Roeleveld, Elisabeth Mangold, Sarah L. Mehrem, Christian Gilissen, Joseph Schoenaers, Koen Devriendt, Greet Hens, Stefaan J. Bergé, Iris A.L.M. van Rooij, Jeffrey C. Murray, Hans van Bokhoven, Marloes Steehouwer, Carine Carels, Kerstin U. Ludwig, Ellen van Binsbergen, Nina Ishorst, Christina Fagerberg, Huiqing Zhou
Publikováno v:
Eur J Hum Genet
European Journal of Human Genetics, 27, 7, pp. 1101-1112
European Journal of Human Genetics, 27(7), 1101. Nature Publishing Group
European Journal of Human Genetics, 27, 1101-1112
Khandelwal, K D, van den Boogaard, M-J H, Mehrem, S L, Gebel, J, Fagerberg, C, van Beusekom, E, van Binsbergen, E, Topaloglu, O, Steehouwer, M, Gilissen, C, Ishorst, N, van Rooij, I A L M, Roeleveld, N, Christensen, K, Schoenaers, J, Bergé, S, Murray, J C, Hens, G, Devriendt, K, Ludwig, K U, Mangold, E, Hoischen, A, Zhou, H, Dötsch, V, Carels, C E L & van Bokhoven, H 2019, ' Deletions and loss-of-function variants in TP63 associated with orofacial clefting ', European Journal of Human Genetics, vol. 27, no. 7, pp. 1101-1112 . https://doi.org/10.1038/s41431-019-0370-0
European Journal of Human Genetics, 27, 7, pp. 1101-1112
European Journal of Human Genetics, 27(7), 1101. Nature Publishing Group
European Journal of Human Genetics, 27, 1101-1112
Khandelwal, K D, van den Boogaard, M-J H, Mehrem, S L, Gebel, J, Fagerberg, C, van Beusekom, E, van Binsbergen, E, Topaloglu, O, Steehouwer, M, Gilissen, C, Ishorst, N, van Rooij, I A L M, Roeleveld, N, Christensen, K, Schoenaers, J, Bergé, S, Murray, J C, Hens, G, Devriendt, K, Ludwig, K U, Mangold, E, Hoischen, A, Zhou, H, Dötsch, V, Carels, C E L & van Bokhoven, H 2019, ' Deletions and loss-of-function variants in TP63 associated with orofacial clefting ', European Journal of Human Genetics, vol. 27, no. 7, pp. 1101-1112 . https://doi.org/10.1038/s41431-019-0370-0
Contains fulltext : 204872.pdf (Publisher’s version ) (Open Access) We aimed to identify novel deletions and variants of TP63 associated with orofacial clefting (OFC). Copy number variants were assessed in three OFC families using microarray analys
Autor:
Ellen van Beusekom, Andrea K. Petersen, Alireza Sedaghat, Amir Sherafat, Henry Houlden, Mohammad Yahya Vahidi Mehrjardi, Laila Selim, Nihal M. Al Menabawy, Stephanie Efthymiou, Ender Karaca, Mohammadreza Dehghani, Alper Gezdirici, Neda Mazaheri, Reza Azizi Malamiri, Vincenzo Salpietro, Valentina Stanley, Leslie Durham, Christopher A. Walsh, Caroline Dias, Lieke L.M. Schaeken, James R. Lupski, Reza Maroofian, Hamid Galehdari, Selina Banu, Jaya Punetha, Edward Yang, Davut Pehlivan, Zeynep Coban-Akdemir, Elena Seiradake, Jennifer E. Posey, Maryam Najafi, Gholamreza Shariati, Joseph G. Gleeson, Céline Zheng, Jamileh Rezazadeh Varaghchi, Hans van Bokhoven, Daniel L. Polla, Jennifer N. Partlow, Jennifer Keller-Ramey, Tadahiro Mitani, Abolfazl Rad, Valeria V. Orlova, Shalini N. Jhangiani
Publikováno v:
American Journal of Human Genetics
American Journal of Human Genetics, 105, 5, pp. 1048-1056
American Journal of Human Genetics, 105, 1048-1056
American Journal of Human Genetics, 105, 5, pp. 1048-1056
American Journal of Human Genetics, 105, 1048-1056
NTNG2 encodes netrin-G2, a membrane-anchored protein implicated in the molecular organization of neuronal circuitry and synaptic organization and diversification in vertebrates. In this study, through a combination of exome sequencing and autozygosit
Autor:
Roel H. M. Cooijmans, Martin Oti, Ellen van Beusekom, Sharon M. Kolk, Judith R. Homberg, Yvet Kroeze, Huiqing Zhou, Hans van Bokhoven
Publikováno v:
Cerebral Cortex, 28, 833-851
Cerebral Cortex, 28, pp. 833-851
Cerebral Cortex, 28, pp. 833-851
The prefrontal cortex (PFC) is one of the latest brain regions to mature, which allows the acquisition of complex cognitive abilities through experience. To unravel the underlying gene expression changes during postnatal development, we performed RNA