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Items: 1 to 20 of 500

1.
Familial Bainbridge‐Ropers syndrome: Report of familial ASXL3 inheritance and a milder phenotype
Schaida Schirwani, Emily Woods, David A. Koolen, Charlotte W. Ockeloen, Sally Ann Lynch, Karl Kavanagh, John M. Graham, Jr, Katheryn Grand, Tyler Mark Pierson, Jeffrey M. Chung, Meena Balasubramanian
Am J Med Genet A. 2023 Jan; 191(1): 29–36. Published online 2022 Sep 29. doi: 10.1002/ajmg.a.62981
PMCID:
PMC10087684
ArticlePubReaderPDF–1.8MCite
2.
Bainbridge-Ropers Syndrome in a Texan Boy: A Case Report and Review of the Literature
Tania Siu Xiao, Giuliana Colombari Arce, Andreina Rojas Marron, Guadalupe A Benitez, Rebecca Schwanecke
Cureus. 2022 Dec; 14(12): e32902. Published online 2022 Dec 24. doi: 10.7759/cureus.32902
PMCID:
PMC9869920
ArticlePubReaderPDF–220KCite
3.
Treatment of Self-Injury in Bainbridge-Ropers Syndrome: Replication and Extensions of Behavioral Assessments
Mindy Scheithauer, Alec Bernstein, J. Meredith Stremel
Behav Anal Pract. 2023 Jun; 16(2): 611–616. Published online 2022 Oct 11. doi: 10.1007/s40617-022-00749-x
PMCID:
PMC9552735
ArticlePubReaderPDF–923KCite
4.
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
ArticlePubReaderPDF–721KCite
5.
A case of Bainbridge-Ropers syndrome with breath holding spells and intractable epilepsy: challenges in diagnosis and management
Tuba Rashid Khan, Alison Dolce, Kimberly Goodspeed
BMC Neurol. 2022; 22: 60. Published online 2022 Feb 16. doi: 10.1186/s12883-022-02573-w
PMCID:
PMC8848676
ArticlePubReaderPDF–1.4MCite
6.
Bainbridge-ropers syndrome caused by loss-of-function variants in ASXL3: Clinical abnormalities, medical imaging features, and gene variation in infancy of case report
Linfeng Yang, Bin Guo, Weiwei Zhu, Lei Wang, Bingjuan Han, Yena Che, Lingfei Guo
BMC Pediatr. 2020; 20: 287. Published online 2020 Jun 9. doi: 10.1186/s12887-020-02027-7
PMCID:
PMC7282141
ArticlePubReaderPDF–3.9MCite
7.
Modeling Bainbridge-Ropers Syndrome in Xenopus laevis Embryos
Hava Lichtig, Artyom Artamonov, Hanna Polevoy, Christine D. Reid, Stephanie L. Bielas, Dale Frank
Front Physiol. 2020; 11: 75. Published online 2020 Feb 18. doi: 10.3389/fphys.2020.00075
PMCID:
PMC7040374
ArticlePubReaderPDF–3.3MCite
8.
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
ArticlePubReaderPDF–1.1MCite
9.
Phenotypic characterization of an older adult male with late-onset epilepsy and a novel mutation in ASXL3 shows overlap with the associated Bainbridge-Ropers syndrome
Willem Verhoeven, Jos Egger, Emmy Räkers, Arjen van Erkelens, Rolph Pfundt, Marjolein H Willemsen
Neuropsychiatr Dis Treat. 2018; 14: 867–870. Published online 2018 Mar 27. doi: 10.2147/NDT.S153511
PMCID:
PMC5877499
ArticlePubReaderPDF–513KCite
10.
Mild prominence of the Sylvian fissure in a Bainbridge‐Ropers syndrome patient with a novel frameshift variant in ASXL3
Yasutsugu Chinen, Sadao Nakamura, Akira Ganaha, Shin Hayashi, Johji Inazawa, Kumiko Yanagi, Koichi Nakanishi, Tadashi Kaname, Kenji Naritomi
Clin Case Rep. 2018 Feb; 6(2): 330–336. Published online 2017 Dec 28. doi: 10.1002/ccr3.1361
PMCID:
PMC5799615
ArticlePubReaderPDF–2.3MCite
11.
Bainbridge–Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition
Alma Kuechler, Johanna Christina Czeschik, Elisabeth Graf, Ute Grasshoff, Ulrike Hüffmeier, Tiffany Busa, Stefanie Beck-Woedl, Laurence Faivre, Jean-Baptiste Rivière, Ingrid Bader, Johannes Koch, André Reis, Ute Hehr, Olaf Rittinger, Wolfgang Sperl, Tobias B Haack, Thomas Wieland, Hartmut Engels, Holger Prokisch, Tim M Strom, Hermann-Josef Lüdecke, Dagmar Wieczorek
Eur J Hum Genet. 2017 Feb; 25(2): 183–191. Published online 2016 Nov 30. doi: 10.1038/ejhg.2016.165
PMCID:
PMC5255962
ArticlePubReaderPDF–650KCite
12.
De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge–Ropers syndrome
Anshika Srivastava, K.C. Ritesh, Yao-Chang Tsan, Rosy Liao, Fengyun Su, Xuhong Cao, Mark C. Hannibal, Catherine E. Keegan, Arul M. Chinnaiyan, Donna M. Martin, Stephanie L. Bielas
Hum Mol Genet. 2016 Feb 1; 25(3): 597–608. Published online 2015 Dec 8. doi: 10.1093/hmg/ddv499
PMCID:
PMC4731023
ArticlePubReaderPDF–649KCite
13.
Bristol Rabbit Pain Scale (BRPS): clinical utility, validity and reliability
L. Benato, J. Murrell, N. Rooney
BMC Vet Res. 2022; 18: 341. Published online 2022 Sep 9. doi: 10.1186/s12917-022-03434-x
PMCID:
PMC9461217
ArticlePubReaderPDF–1.7MCite
14.
Development of the Bristol Rabbit Pain Scale (BRPS): A multidimensional composite pain scale specific to rabbits (Oryctolagus cuniculus)
Livia Benato, Joanna Murrell, Toby G. Knowles, Nicola J. Rooney
PLoS One. 2021; 16(6): e0252417. Published online 2021 Jun 11. doi: 10.1371/journal.pone.0252417
PMCID:
PMC8195426
ArticlePubReaderPDF–793KCite
15.
3PFDB - A database of Best Representative PSSM Profiles (BRPs) of Protein Families generated using a novel data mining approach
Khader Shameer, Paramasivam Nagarajan, Kumar Gaurav, Ramanathan Sowdhamini
BioData Min. 2009; 2: 8. Published online 2009 Dec 4. doi: 10.1186/1756-0381-2-8
PMCID:
PMC2801675
ArticlePubReaderPDF–1.0MCite
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
ArticlePubReaderPDF–442KCite
17.
Case report : a novel ASXL3 gene variant in a Sudanese boy
Ke Wu, Yan Cong
BMC Pediatr. 2021; 21: 557. Published online 2021 Dec 9. doi: 10.1186/s12887-021-03038-8
PMCID:
PMC8655995
ArticlePubReaderPDF–1.4MCite
18.
Novel de novo frameshift variant in the ASXL3 gene in a child with microcephaly and global developmental delay
Marketa Wayhelova, Jan Oppelt, Jan Smetana, Eva Hladilkova, Hana Filkova, Eva Makaturova, Petra Nikolova, Rastislav Beharka, Renata Gaillyova, Petr Kuglik
Mol Med Rep. 2019 Jul; 20(1): 505–512. Published online 2019 May 27. doi: 10.3892/mmr.2019.10303
PMCID:
PMC6579994
ArticlePubReaderPDF–538KCite
19.
Identification of a new myotropic decapeptide from the skin secretion of the red-eyed leaf frog, Agalychnis callidryas
Yitian Gao, Renjie Li, Wenqing Yang, Mei Zhou, Lei Wang, Chengbang Ma, Xinping Xi, Tianbao Chen, Chris Shaw, Di Wu
PLoS One. 2020; 15(12): e0243326. Published online 2020 Dec 3. doi: 10.1371/journal.pone.0243326
PMCID:
PMC7714090
ArticlePubReaderPDF–2.1MCite
20.
Complex Control of a Genomic Island Governing Biofilm and Rugose Colony Development in Vibrio vulnificus
Daniel M. Chodur, Dean A. Rowe-Magnus
J Bacteriol. 2018 Aug 15; 200(16): e00190-18. Prepublished online 2018 May 14. Published online 2018 Jul 25. doi: 10.1128/JB.00190-18
PMCID:
PMC6060351
ArticlePubReaderPDF–1.8MCite

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