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Items: 1 to 20 of 29

1.
Speech and language deficits are central to SETBP1 haploinsufficiency disorder
Angela Morgan, Ruth Braden, Maggie M. K. Wong, Estelle Colin, David Amor, Frederique Liégeois, Siddharth Srivastava, Adam Vogel, Varoona Bizaoui, Kara Ranguin, Simon E. Fisher, Bregje W. van Bon
Eur J Hum Genet. 2021 Aug; 29(8): 1216–1225. Published online 2021 Apr 27. doi: 10.1038/s41431-021-00894-x
PMCID:
PMC8384874
AbstractArticlePDF–1.0M
2.
Clinical delineation of SETBP1 haploinsufficiency disorder
Nadieh A. Jansen, Ruth O. Braden, Siddharth Srivastava, Erin F. Otness, Gaetan Lesca, Massimiliano Rossi, Mathilde Nizon, Raphael A. Bernier, Chloé Quelin, Arie van Haeringen, Tjitske Kleefstra, Maggie M. K. Wong, Sandra Whalen, Simon E. Fisher, Angela T. Morgan, Bregje W. van Bon
Eur J Hum Genet. 2021 Aug; 29(8): 1198–1205. Published online 2021 Apr 19. doi: 10.1038/s41431-021-00888-9
PMCID:
PMC8385049
AbstractArticlePDF–1.5M
3.
Impaired neurogenesis and neural progenitor fate choice in a human stem cell model of SETBP1 disorder
Lucia F. Cardo, Daniel C. de la Fuente, Meng Li
Mol Autism. 2023; 14: 8. Published online 2023 Feb 20. doi: 10.1186/s13229-023-00540-x
PMCID:
PMC9940404
AbstractArticlePDF–13M
4.
The impact of SETBP1 mutations in neurological diseases and cancer
Naoki Kohyanagi, Takashi Ohama
Genes Cells. 2023 Sep; 28(9): 629–641. Published online 2023 Jul 25. doi: 10.1111/gtc.13057
PMCID:
PMC11447826
AbstractArticlePDF–1.9M
5.
Identification of a novel de novo mutation of SETBP1 and new findings of SETBP1 in tumorgenesis
Hongdan Wang, Yue Gao, Litao Qin, Mengting Zhang, Weili Shi, Zhanqi Feng, Liangjie Guo, Bofeng Zhu, Shixiu Liao
Orphanet J Rare Dis. 2023; 18: 107. Published online 2023 May 7. doi: 10.1186/s13023-023-02705-6
PMCID:
PMC10165755
AbstractArticlePDF–13M
6.
Novel SETBP1 mutation in a chinese family with intellectual disability
Le Wang, Xu-Dong Wang, Bo Yang, Xue-Meng Wang, Yu-Qian Peng, Hang-Jing Tan, Hong-Mei Xiao
BMC Med Genomics. 2023; 16: 233. Published online 2023 Oct 5. doi: 10.1186/s12920-023-01649-x
PMCID:
PMC10552191
AbstractArticlePDF–1.0M
7.
The landscape of SETBP1 gene expression and transcription factor activity across human tissues
Jordan H. Whitlock, Elizabeth J. Wilk, Timothy C. Howton, Amanda D. Clark, Brittany N. Lasseigne
PLoS One. 2024; 19(1): e0296328. Published online 2024 Jan 2. doi: 10.1371/journal.pone.0296328
PMCID:
PMC10760659
AbstractArticlePDF–2.0M
8.
The landscape of SETBP1 gene expression and transcription factor activity across human tissues
Jordan H. Whitlock, Elizabeth J. Wilk, Timothy C. Howton, Amanda D. Clark, Brittany N. Lasseigne
Version 2. bioRxiv. Preprint. 2023 Oct 14. doi: 10.1101/2023.08.08.551337
Published in:
PLoS One. 2024; 19(1): e0296328.
PMCID:
PMC10592643
AbstractArticlePDF–2.3M
9.
A Novel SETBP1 Gene Disruption by a De Novo Balanced Translocation in a Patient with Speech Impairment, Intellectual, and Behavioral Disorder
Ivona Vrkić Boban, Futoshi Sekiguchi, Mirela Lozić, Noriko Miyake, Naomichi Matsumoto, Bernarda Lozić
J Pediatr Genet. 2022 Jun; 11(2): 135–138. Published online 2020 Aug 31. doi: 10.1055/s-0040-1715639
PMCID:
PMC9236750
AbstractArticlePDF–1.2M
10.
Absolute Lymphocyte Counts Refine Minimal Residual Disease-Based Risk Stratification in Childhood Acute Lymphoblastic Leukemia
Karen R. Rabin, M. Monica Gramatges, Michael J. Borowitz, Shana L. Palla, Xiaodong Shi, Judith F. Margolin, Patrick A. Zweidler-McKay
Pediatr Blood Cancer. Author manuscript; available in PMC 2013 Sep 1.
Published in final edited form as: Pediatr Blood Cancer. 2012 Sep; 59(3): 468–474. Published online 2011 Nov 18. doi: 10.1002/pbc.23395
PMCID:
PMC3290726
AbstractArticlePDF–477K
11.
Identification of SETBP1 Mutations by Gene Panel Sequencing in Individuals With Intellectual Disability or With “Developmental and Epileptic Encephalopathy”
Emanuela Leonardi, Elisa Bettella, Maria Federica Pelizza, Maria Cristina Aspromonte, Roberta Polli, Clementina Boniver, Stefano Sartori, Donatella Milani, Alessandra Murgia
Front Neurol. 2020; 11: 593446. Published online 2020 Dec 16. doi: 10.3389/fneur.2020.593446
PMCID:
PMC7772201
AbstractArticlePDF–989K
12.
The establishment and evaluation of a new model for the prediction of Children B-ALL based on TARGET: A SQUIRE-compliant study
Xiangyu Gao, Wenjun Liu
Medicine (Baltimore) 2020 May; 99(19): e20115. Published online 2020 May 8. doi: 10.1097/MD.0000000000020115
PMCID:
PMC7440063
AbstractArticlePDF–734K
13.
The orocraniodigital syndrome of Juberg and Hayward.
A Verloes, M Le Merrer, J C Davin, P Wittamer, C Abrassart, G Bricteux, M L Briard
J Med Genet. 1992 Apr; 29(4): 262–265. doi: 10.1136/jmg.29.4.262
PMCID:
PMC1015929
SummaryPage BrowsePDF–1.4M
14.
Genome-Wide Copy Number Variation in Epilepsy: Novel Susceptibility Loci in Idiopathic Generalized and Focal Epilepsies
Heather C. Mefford, Hiltrud Muhle, Philipp Ostertag, Sarah von Spiczak, Karen Buysse, Carl Baker, Andre Franke, Alain Malafosse, Pierre Genton, Pierre Thomas, Christina A. Gurnett, Stefan Schreiber, Alexander G. Bassuk, Michel Guipponi, Ulrich Stephani, Ingo Helbig, Evan E. Eichler
PLoS Genet. 2010 May; 6(5): e1000962. Published online 2010 May 20. doi: 10.1371/journal.pgen.1000962
PMCID:
PMC2873910
AbstractArticlePDF–708K
15.
Further delineation of the G syndrome: a manageable genetic cause of infantile dysphagia.
G N Wilson, W J Oliver
J Med Genet. 1988 Mar; 25(3): 157–163. doi: 10.1136/jmg.25.3.157
PMCID:
PMC1015479
SummaryPage BrowsePDF–1.3M
16.
Evidence for population variation in TSC1 and TSC2 gene expression
Garilyn M Jentarra, Stephen G Rice, Shannon Olfers, David Saffen, Vinodh Narayanan
BMC Med Genet. 2011; 12: 29. Published online 2011 Feb 23. doi: 10.1186/1471-2350-12-29
PMCID:
PMC3051885
AbstractArticlePDF–3.9M
17.
Human Spermatogenic Failure Purges Deleterious Mutation Load from the Autosomes and Both Sex Chromosomes, including the Gene DMRT1
Alexandra M. Lopes, Kenneth I. Aston, Emma Thompson, Filipa Carvalho, João Gonçalves, Ni Huang, Rune Matthiesen, Michiel J. Noordam, Inés Quintela, Avinash Ramu, Catarina Seabra, Amy B. Wilfert, Juncheng Dai, Jonathan M. Downie, Susana Fernandes, Xuejiang Guo, Jiahao Sha, António Amorim, Alberto Barros, Angel Carracedo, Zhibin Hu, Matthew E. Hurles, Sergey Moskovtsev, Carole Ober, Darius A. Paduch, Joshua D. Schiffman, Peter N. Schlegel, Mário Sousa, Douglas T. Carrell, Donald F. Conrad
PLoS Genet. 2013 Mar; 9(3): e1003349. Published online 2013 Mar 21. doi: 10.1371/journal.pgen.1003349
PMCID:
PMC3605256
AbstractArticlePDF–968K
18.
Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies
Rocio Acuna-Hidalgo, Pelagia Deriziotis, Marloes Steehouwer, Christian Gilissen, Sarah A. Graham, Sipko van Dam, Julie Hoover-Fong, Aida B. Telegrafi, Anne Destree, Robert Smigiel, Lindsday A. Lambie, Hülya Kayserili, Umut Altunoglu, Elisabetta Lapi, Maria Luisa Uzielli, Mariana Aracena, Banu G. Nur, Ercan Mihci, Lilia M. A. Moreira, Viviane Borges Ferreira, Dafne D. G. Horovitz, Katia M. da Rocha, Aleksandra Jezela-Stanek, Alice S. Brooks, Heiko Reutter, Julie S. Cohen, Ali Fatemi, Martin Smitka, Theresa A. Grebe, Nataliya Di Donato, Charu Deshpande, Anthony Vandersteen, Charles Marques Lourenço, Andreas Dufke, Eva Rossier, Gwenaelle Andre, Alessandra Baumer, Careni Spencer, Julie McGaughran, Lude Franke, Joris A. Veltman, Bert B. A. De Vries, Albert Schinzel, Simon E. Fisher, Alexander Hoischen, Bregje W. van Bon
PLoS Genet. 2017 Mar; 13(3): e1006683. Published online 2017 Mar 27. doi: 10.1371/journal.pgen.1006683
PMCID:
PMC5386295
AbstractArticlePDF–2.2M
19.
Cerebral vasculopathy in a Chinese family with neurofibromatosis type I mutation
Jian-Tao Liang, Li-Rong Huo, Yu-Hai Bao, Zhen-Yu Wang, Feng Ling
Neurosci Bull. 2013 Dec; 29(6): 708–714. Published online 2013 Nov 11. doi: 10.1007/s12264-013-1388-x
PMCID:
PMC5562553
AbstractArticlePDF–472K
20.
Cerebral amyloid angiopathy in Down syndrome and sporadic and autosomal dominant Alzheimer's disease
María Carmona-Iragui, Mircea Balasa, Bessy Benejam, Daniel Alcolea, Susana Fernández, Laura Videla, Isabel Sala, María Belén Sánchez-Saudinos, Estrella Morenas-Rodriguez, Roser Ribosa-Nogué, Ignacio Illán-Gala, Sofía Gonzalez-Ortiz, Jordi Clarimón, Frederick Schmitt, David K Powell, Beatriz Bosch, Albert Lladó, Michael Rafii, Elizabeth Head, José Luis Molinuevo, Rafael Blesa, Sebastián Videla, Alberto Lleó, Raquel Sánchez-Valle, Juan Fortea
Alzheimers Dement. Author manuscript; available in PMC 2018 Nov 1.
Published in final edited form as: Alzheimers Dement. 2017 Nov; 13(11): 1251–1260. Published online 2017 Apr 29. doi: 10.1016/j.jalz.2017.03.007
PMCID:
PMC5660938
AbstractArticlePDF–576K

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