Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Inken Dreyer"'
Autor:
Kun Xia, Samantha Ayres, Amber Begtrup, Danielle Karlowicz, Raphael Bernier, Ahood Alsulaiman, Frédéric Bilan, Rebecca Hernan, Elena Savva, Fowzan S. Alkuraya, Ingrid M. Wentzensen, Mohammad A. Al-Muhaizea, Audrey Labalme, Sumit Punj, Jenny Meylan Merlini, Evan E. Eichler, Lucile Letienne-Cejudo, Alexia Boizot, Natasha J Brown, Emily Bryant, Senwei Tan, Wendy K. Chung, Bin Yu, Inken Dreyer, Maria J. Guillen Sacoto, Jieqiong Tan, Hilde Peeters, Xiangbin Jia, Inge Lore Ruiz-Arana, Brina Daniels, Elizabeth A. Sellars, Linda Pons, Jianjun Ou, Rujia Dai, Guodong Chen, Gaetan Lesca, Lindsay Rhodes, Anne chun-hui Tsai, Chao Chen, Marie T. McDonald, Linda Laux, Kendra Hoekzema, Hui Guo, Christina Fagerberg, Bradley Schaefer, Huidan Wu, Rhonda E. Schnur, Qiumeng Zhang, Federico Santoni, Qian Pan, Rose B. McGee, Lucia Bartoloni, Brigitte Gilbert-Dussardier, Zhengmao Hu, Charlotte Brasch-Andersen, Dhamidhu Eratne, Valerie Slegesky, Lori A. Carpenter
Publikováno v:
Am J Hum Genet
Guo, H, Zhang, Q, Dai, R, Yu, B, Hoekzema, K, Tan, J, Tan, S, Jia, X, Chung, W K, Hernan, R, Alkuraya, F S, Alsulaiman, A, Al-Muhaizea, M A, Lesca, G, Pons, L, Labalme, A, Laux, L, Bryant, E, Brown, N J, Savva, E, Ayres, S, Eratne, D, Peeters, H, Bilan, F, Letienne-Cejudo, L, Gilbert-Dussardier, B, Ruiz-Arana, I L, Merlini, J M, Boizot, A, Bartoloni, L, Santoni, F, Karlowicz, D, McDonald, M, Wu, H, Hu, Z, Chen, G, Ou, J, Brasch-Andersen, C, Fagerberg, C R, Dreyer, I, chun-hui Tsai, A, Slegesky, V, McGee, R B, Daniels, B, Sellars, E A, Carpenter, L A, Schaefer, B, Sacoto, M J G, Begtrup, A, Schnur, R E, Punj, S, Wentzensen, I M, Rhodes, L, Pan, Q, Bernier, R A, Chen, C, Eichler, E E & Xia, K 2020, ' NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism ', American Journal of Human Genetics, vol. 107, no. 5, pp. 963-976 . https://doi.org/10.1016/j.ajhg.2020.10.002
Guo, H, Zhang, Q, Dai, R, Yu, B, Hoekzema, K, Tan, J, Tan, S, Jia, X, Chung, W K, Hernan, R, Alkuraya, F S, Alsulaiman, A, Al-Muhaizea, M A, Lesca, G, Pons, L, Labalme, A, Laux, L, Bryant, E, Brown, N J, Savva, E, Ayres, S, Eratne, D, Peeters, H, Bilan, F, Letienne-Cejudo, L, Gilbert-Dussardier, B, Ruiz-Arana, I L, Merlini, J M, Boizot, A, Bartoloni, L, Santoni, F, Karlowicz, D, McDonald, M, Wu, H, Hu, Z, Chen, G, Ou, J, Brasch-Andersen, C, Fagerberg, C R, Dreyer, I, chun-hui Tsai, A, Slegesky, V, McGee, R B, Daniels, B, Sellars, E A, Carpenter, L A, Schaefer, B, Sacoto, M J G, Begtrup, A, Schnur, R E, Punj, S, Wentzensen, I M, Rhodes, L, Pan, Q, Bernier, R A, Chen, C, Eichler, E E & Xia, K 2020, ' NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism ', American Journal of Human Genetics, vol. 107, no. 5, pp. 963-976 . https://doi.org/10.1016/j.ajhg.2020.10.002
NCKAP1/NAP1 regulates neuronal cytoskeletal dynamics and is essential for neuronal differentiation in the developing brain. Deleterious variants in NCKAP1 have been identified in individuals with autism spectrum disorder (ASD) and intellectual disabi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ff727f5e121f299c8cce51056835c29
https://europepmc.org/articles/PMC7674997/
https://europepmc.org/articles/PMC7674997/
Autor:
Lilian Bomme Ousager, Christina Fagerberg, Charlotte K. Lautrup, Maria Kirchhoff, Anders Aamann Rasmussen, Niels H Birkebaek, Ulrike D. Heinl, Keld E. Sørensen, Inken Dreyer, Jesper Graakjaer
Publikováno v:
Fagerberg, C R, Graakjaer, J, Heinl, U D, Ousager, L B, Dreyer, I, Kirchhoff, E M, Rasmussen, A A, Lautrup, C K, Birkebæk, N & Sorensen, K 2013, ' Heart defects and other features of the 22q11 distal deletion syndrome ', European Journal of Medical Genetics, vol. 56, no. 2, pp. 98-107 . https://doi.org/10.1016/j.ejmg.2012.09.009
Fagerberg, C R, Graakjaer, J, Heinl, U D, Ousager, L B, Dreyer, I, Kirchhoff, E M, Rasmussen, A A, Lautrup, C K, Birkebaek, N & Sorensen, K 2013, ' Heart defects and other features of the 22q11 distal deletion syndrome ', European Journal of Medical Genetics, vol. 56, no. 2, pp. 98-107 . https://doi.org/10.1016/j.ejmg.2012.09.009
Fagerberg, C R, Graakjaer, J, Heinl, U D, Ousager, L B, Dreyer, I, Kirchhoff, E M, Rasmussen, A A, Lautrup, C K, Birkebaek, N & Sorensen, K 2013, ' Heart defects and other features of the 22q11 distal deletion syndrome ', European Journal of Medical Genetics, vol. 56, no. 2, pp. 98-107 . https://doi.org/10.1016/j.ejmg.2012.09.009
22q11.2 distal deletion syndrome is distinct from the common 22q11.2 deletion syndrome and caused by microdeletions localized adjacent to the common 22q11 deletion at its telomeric end. Most distal deletions of 22q11 extend from LCR22-4 to an LCR in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64b9e2ba48cb27c3258be4458db2e770
https://pure.au.dk/portal/da/publications/heart-defects-and-other-features-of-the-22q11-distal-deletion-syndrome(543e15f8-3560-49b2-b41a-34dcbadd08ba).html
https://pure.au.dk/portal/da/publications/heart-defects-and-other-features-of-the-22q11-distal-deletion-syndrome(543e15f8-3560-49b2-b41a-34dcbadd08ba).html