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Items: 1 to 20 of 56

1.
Omnichannel integration strategy based on BOPS
Meirong Tan, Hao Li, Pei Yin, Hongwei Wang
PLoS One. 2023; 18(12): e0293192. Published online 2023 Dec 21. doi: 10.1371/journal.pone.0293192
PMCID:
PMC10734977
ArticlePDF–1.4M
2.
Examining the neurodevelopmental and motor phenotypes of Bohring-Opitz syndrome (ASXL1) and Bainbridge-Ropers syndrome (ASXL3)
Maya C. Ayoub, Jeffrey T. Anderson, Bianca E. Russell, Rujuta B. Wilson
Front Neurosci. 2023; 17: 1244176. Published online 2023 Nov 6. doi: 10.3389/fnins.2023.1244176
PMCID:
PMC10657810
ArticlePDF–1.1M
3.
Multiomics of Bohring-Opitz syndrome truncating ASXL1 mutations identify canonical and noncanonical Wnt signaling dysregulation
Isabella Lin, Angela Wei, Zain Awamleh, Meghna Singh, Aileen Ning, Analeyla Herrera, REACH Biobank and Registry, Bianca E. Russell, Rosanna Weksberg, Valerie A. Arboleda
JCI Insight. 2023 May 22; 8(10): e167744. Published online 2023 May 22. doi: 10.1172/jci.insight.167744
PMCID:
PMC10322691
ArticlePDF–7.1M
4.
Benefit from a high store visiting cost in an omnichannel with BOPS
Yue Feng, Jianxiong Zhang, Lin Feng, Guowei Zhu
Transp Res E Logist Transp Rev. 2022 Oct; 166: 102904. Published online 2022 Sep 18. doi: 10.1016/j.tre.2022.102904
PMCID:
PMC9482683
ArticlePDF–920K
5.
DNA methylation signature associated with Bohring-Opitz syndrome: a new tool for functional classification of variants in ASXL genes
Zain Awamleh, Eric Chater-Diehl, Sanaa Choufani, Elizabeth Wei, Rebecca R. Kianmahd, Anna Yu, Lauren Chad, Gregory Costain, Wen-Hann Tan, Stephen W. Scherer, Valerie A. Arboleda, Bianca E. Russell, Rosanna Weksberg
Eur J Hum Genet. 2022 Jun; 30(6): 695–702. Published online 2022 Apr 1. doi: 10.1038/s41431-022-01083-0
PMCID:
PMC9177544
ArticlePDF–1.3M
6.
Bohring-Opitz syndrome caused by a novel ASXL1 mutation (c.3762delT) in an IVF baby: A case report
Dongbo Wang, Xin Yuan, Haichun Guo, Shuyuan Yan, Guohong Wang, Yanling Wang, Tuanmei Wang, Jun He, Xiangwen Peng
Medicine (Baltimore) 2022 Feb 4; 101(5): e28759. Published online 2022 Feb 4. doi: 10.1097/MD.0000000000028759
PMCID:
PMC8812699
ArticlePDF–399K
7.
A de novo Variant of ASXL1 Is Associated With an Atypical Phenotype of Bohring-Opitz Syndrome: Case Report and Literature Review
Weiqing Zhao, Xiao Hu, Ye Liu, Xike Wang, Yun Chen, Yangyang Wang, Hao Zhou
Front Pediatr. 2021; 9: 678615. Published online 2021 Aug 30. doi: 10.3389/fped.2021.678615
PMCID:
PMC8435705
ArticlePDF–419K
8.
Design, synthesis and biological assessment of new 1-benzyl-4-((4-oxoquinazolin-3(4H)-yl)methyl) pyridin-1-ium derivatives (BOPs) as potential dual inhibitors of acetylcholinesterase and butyrylcholinesterase
Samaneh Zarei, Mohammad Shafiei, Maryam Firouzi, Loghman Firoozpour, Kouros Divsalar, Ali Asadipour, Tahmineh Akbarzadeh, Alireza Foroumadi
Heliyon. 2021 Apr; 7(4): e06683. Published online 2021 Apr 8. doi: 10.1016/j.heliyon.2021.e06683
PMCID:
PMC8045006
ArticlePDF–2.3M
9.
The ASXL1 mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring‐Opitz Syndrome
Roser Urreizti, Semra Gürsoy, Laura Castilla‐Vallmanya, Guillem Cunill, Raquel Rabionet, Derya Erçal, Daniel Grinberg, Susana Balcells
Clin Case Rep. 2018 Aug; 6(8): 1452–1456. Published online 2018 Jun 10. doi: 10.1002/ccr3.1603
PMCID:
PMC6099046
ArticlePDF–319K
10.
Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome
Colleen M. Carlston, Anne H. O’Donnell-Luria, Hunter R. Underhill, Beryl B. Cummings, Ben Weisburd, Eric V. Minikel, Daniel P. Birnbaum, Exome Aggregation Consortium, Tatiana Tvrdik, Daniel G. MacArthur, Rong Mao
Hum Mutat. Author manuscript; available in PMC 2018 May 1.
Published in final edited form as: Hum Mutat. 2017 May; 38(5): 517–523. Published online 2017 Mar 21. doi: 10.1002/humu.23203
PMCID:
PMC5487276
ArticlePDF–216K
11.
Clinical Management of Patients with ASXL1 Mutations and Bohring-Opitz Syndrome, Emphasizing the Need for Wilms Tumor Surveillance
Bianca Russell, Jennifer J Johnston, Leslie G. Biesecker, Nancy Kramer, Angela Pickart, William Rhead, Wen-Hann Tan, Catherine A Brownstein, L Kate Clarkson, Amy Dobson, Avi Z Rosenberg, Samantha A. Schrier Vergano, Benjamin M. Helm, Rachel E Harrison, John M Graham, Jr.
Am J Med Genet A. Author manuscript; available in PMC 2016 Sep 1.
Published in final edited form as: Am J Med Genet A. 2015 Sep; 0(9): 2122–2131. Published online 2015 Apr 29. doi: 10.1002/ajmg.a.37131
PMCID:
PMC4760347
ArticlePDF–605K
12.
De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome
Matthew N Bainbridge, Hao Hu, Donna M Muzny, Luciana Musante, James R Lupski, Brett H Graham, Wei Chen, Karen W Gripp, Kim Jenny, Thomas F Wienker, Yaping Yang, V Reid Sutton, Richard A Gibbs, H Hilger Ropers
Genome Med. 2013; 5(2): 11. Published online 2013 Feb 5. doi: 10.1186/gm415
PMCID:
PMC3707024
ArticlePDF–1.3M
13.
A BLADE-ON-PETIOLE orthologue regulates corolla differentiation in the proximal region in Torenia fournieri
Shihao Su, Yawen Lei, Xuan Zhou, Takamasa Suzuki, Wei Xiao, Tetsuya Higashiyama
Nat Commun. 2023; 14: 4763. Published online 2023 Aug 8. doi: 10.1038/s41467-023-40399-3
PMCID:
PMC10409793
ArticlePDF–11M
14.
Rapid progression of myelofibrosis in polycythemia vera patient carrying SRSF2 c.284C>A p.(Pro95His) and unique ASXL1 splice site c.1720‐2A>G variant
Zuzanna Kanduła, Renata Kroll‐Balcerzak, Krzysztof Lewandowski
J Clin Lab Anal. 2022 May; 36(5): e24388. Published online 2022 Apr 18. doi: 10.1002/jcla.24388
PMCID:
PMC9102755
ArticlePDF–1.4M
15.
De novo nonsense variant in ASXL3 in a Chinese girl causing Bainbridge–Ropers syndrome: A case report and review of literature
Qin Wang, Jianming Zhang, Nan Jiang, Jiansheng Xie, Jingxin Yang, Xiaoshan Zhao
Mol Genet Genomic Med. 2022 May; 10(5): e1924. Published online 2022 Mar 11. doi: 10.1002/mgg3.1924
PMCID:
PMC9034677
ArticlePDF–721K
16.
Understanding the phenotypic spectrum of ASXL-related disease: 10 cases and a review of the literature
Vishnu Anand Cuddapah, Holly A. Dubbs, Laura Adang, Steven L. Kugler, Elizabeth M. McCormick, Zarazuela Zolkipli-Cunningham, Xilma R. Ortiz-González, Shana McCormack, Elaine Zackai, Daniel J. Licht, Marni J. Falk, Eric D. Marsh
Am J Med Genet A. Author manuscript; available in PMC 2022 Jun 1.
Published in final edited form as: Am J Med Genet A. 2021 Jun; 185(6): 1700–1711. Published online 2021 Mar 10. doi: 10.1002/ajmg.a.62156
PMCID:
PMC8842511
ArticlePDF–442K
17.
The tale of two genes: from next-generation sequencing to phenotype
Mersedeh Rohanizadegan, Aishwarya Siddharath, Kyle Retterer, Christina Hung, Olaf Bodamer
Cold Spring Harb Mol Case Stud. 2020 Apr; 6(2): a004846. doi: 10.1101/mcs.a004846
PMCID:
PMC7133747
ArticlePDF–3.0M
18.
A de novo truncating mutation in ASXL1 associated with segmental overgrowth
Stephanie Efthymiou, Vincenzo Salpietro, Erica Pironti, Maria Bonsignore, Valentina Ferrazzoli, Gabriella Di Rosa, Henry Houlden
J Genet. Author manuscript; available in PMC 2021 Jan 25.
Published in final edited form as: J Genet. 2019 Dec 1; 98: 108. Published online 2019 Nov 22. doi: 10.1007/s12041-019-1155-5
PMCID:
PMC7116628
ArticlePDF–619K
19.
Pathological ASXL1 Mutations and Protein Variants Impair Neural Crest Development
Friederike Matheus, Ejona Rusha, Rizwan Rehimi, Lena Molitor, Anna Pertek, Miha Modic, Regina Feederle, Andrew Flatley, Elisabeth Kremmer, Arie Geerlof, Valentyna Rishko, Alvaro Rada-Iglesias, Micha Drukker
Stem Cell Reports. 2019 May 14; 12(5): 861–868. Published online 2019 Apr 18. doi: 10.1016/j.stemcr.2019.03.006
PMCID:
PMC6524927
ArticlePDF–1.4M
20.
A de novo nonsense mutation in ASXL3 shared by siblings with Bainbridge–Ropers syndrome
Daniel C. Koboldt, Theresa Mihalic Mosher, Benjamin J. Kelly, Emily Sites, Dennis Bartholomew, Scott E. Hickey, Kim McBride, Richard K. Wilson, Peter White
Cold Spring Harb Mol Case Stud. 2018 Jun; 4(3): a002410. doi: 10.1101/mcs.a002410
PMCID:
PMC5983172
ArticlePDF–1.1M

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