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Items: 1 to 20 of 208

1.
Ultrastructural Abnormalities in Induced Pluripotent Stem Cell-Derived Neural Stem Cells and Neurons of Two Cohen Syndrome Patients
Tatiana A. Shnaider, Anna A. Khabarova, Ksenia N. Morozova, Anastasia M. Yunusova, Sophia A. Yakovleva, Anastasia S. Chvileva, Ekaterina R. Wolf, Elena V. Kiseleva, Elena V. Grigor’eva, Viktori Y. Voinova, Maria A. Lagarkova, Ekaterina A. Pomerantseva, Elizaveta V. Musatova, Alexander V. Smirnov, Anna V. Smirnova, Diana S. Stoklitskaya, Tatiana I. Arefieva, Daria A. Larina, Tatiana V. Nikitina, Inna E. Pristyazhnyuk
Cells. 2023 Dec; 12(23): 2702. Published online 2023 Nov 25. doi: 10.3390/cells12232702
PMCID:
PMC10705360
ArticlePDF–66M
2.
Ophthalmic findings in Cohen syndrome patient without subjective ophthalmic complaints: A case report
Do Ah Kim, Joonhyung Kim
Medicine (Baltimore) 2023 Nov 17; 102(46): e35945. Published online 2023 Nov 17. doi: 10.1097/MD.0000000000035945
PMCID:
PMC10659637
ArticlePDF–909K
3.
A Novel Variant in VPS13B Underlying Cohen Syndrome
Abrar Hussain, Anushree Acharya, Thashi Bharadwaj, University Of Washington Center For Mendelian Genomics, Suzanne M. Leal, Abdul Khaliq, Asif Mir, Isabelle Schrauwen
Biomed Res Int. 2023; 2023: 9993801. Published online 2023 Apr 12. doi: 10.1155/2023/9993801
PMCID:
PMC10115529
ArticlePDF–604K
4.
Cohen syndrome and early-onset epileptic encephalopathy in male triplets: two disease-causing mutations in VPS13B and NAPB
Alice AbdelAleem, Naim Haddad, Ghada Al-Ettribi, Amy Crunk, Ahmed Elsotouhy
Neurogenetics. 2023; 24(2): 103–112. Published online 2023 Feb 13. doi: 10.1007/s10048-023-00710-2
PMCID:
PMC10063482
ArticlePDF–3.5M
5.
Cohen syndrome in two patients from China
Jiaoe Gong, Lily Zhang, Yanwei Long, Bo Xiao, Hongyu Long
Mol Genet Genomic Med. 2022 Dec; 10(12): e2053. Published online 2022 Sep 8. doi: 10.1002/mgg3.2053
PMCID:
PMC9747547
ArticlePDF–1.2M
6.
Multiorgan neutrophilic inflammation in a Border Collie with “trapped” neutrophil syndrome
Alyssa Zoto, Chelsea Stecklein, Michael A. Scott, Thomas R. Bauer, Jr., Cynthia Lucidi, Harry Cridge
J Vet Intern Med. 2022 Nov-Dec; 36(6): 2170–2176. Published online 2022 Oct 14. doi: 10.1111/jvim.16567
PMCID:
PMC9708390
ArticlePDF–4.3M
7.
Quantitative trait locus analysis for endophenotypes reveals genetic substrates of core symptom domains and neurocognitive function in autism spectrum disorder
In-Hee Lee, Ekaterina Koelliker, Sek Won Kong
Transl Psychiatry. 2022; 12: 407. Published online 2022 Sep 24. doi: 10.1038/s41398-022-02179-3
PMCID:
PMC9509384
ArticlePDF–1.7M
8.
Disease relevance of rare VPS13B missense variants for neurodevelopmental Cohen syndrome
Malte Zorn, Jirko Kühnisch, Sebastian Bachmann, Wenke Seifert
Sci Rep. 2022; 12: 9686. Published online 2022 Jun 11. doi: 10.1038/s41598-022-13717-w
PMCID:
PMC9188546
ArticlePDF–1.8M
9.
The Vps13 Family of Lipid Transporters and Its Role at Membrane Contact Sites
Samantha Katarzyna Dziurdzik, Elizabeth Conibear
Int J Mol Sci. 2021 Mar; 22(6): 2905. Published online 2021 Mar 12. doi: 10.3390/ijms22062905
PMCID:
PMC7999203
ArticlePDF–1.6M
10.
Cohen Syndrome-Associated Cataract Is Explained by VPS13B Functions in Lens Homeostasis and Is Modified by Additional Genetic Factors
Vincent Lhussiez, Elisabeth Dubus, Quénol Cesar, Niyazi Acar, Emeline F. Nandrot, Manuel Simonutti, Isabelle Audo, Eléonore Lizé, Sylvie Nguyen, Audrey Geissler, André Bouchot, Muhammad Ansar, Serge Picaud, Christel Thauvin-Robinet, Laurence Olivier-Faivre, Laurence Duplomb, Romain Da Costa
Invest Ophthalmol Vis Sci. 2020 Sep; 61(11): 18. Published online 2020 Sep 11. doi: 10.1167/iovs.61.11.18
PMCID:
PMC7488618
ArticlePDF–16M
11.
幼儿精神运动发育落后伴中性粒细胞减少1年余
张 凡, 石 秀玉, 刘 丽英, 刘 雨田, 邹 丽萍
Zhongguo Dang Dai Er Ke Za Zhi. 2018 Jun 25; 20(6): 497–500. Chinese. doi: 10.7499/j.issn.1008-8830.2018.06.013
PMCID:
PMC7389942
ArticlePDF–1.4M
12.
A novel VPS13B mutation in Cohen syndrome: a case report and review of literature
Sara Momtazmanesh, Elham Rayzan, Sepideh Shahkarami, Meino Rohlfs, Christoph Klein, Nima Rezaei
BMC Med Genet. 2020; 21: 140. Published online 2020 Jun 30. doi: 10.1186/s12881-020-01075-1
PMCID:
PMC7325105
ArticlePDF–658K
13.
Autophagy pathway upregulation in a human iPSC-derived neuronal model of Cohen syndrome with VPS13B missense mutations
You-Kyung Lee, Soo-Kyeong Lee, Suin Choi, Yang Hoon Huh, Ji-Hye Kwak, Yong-Seok Lee, Deok-Jin Jang, Jae-Hyung Lee, Kyungmin Lee, Bong-Kiun Kaang, Chae-Seok Lim, Jin-A Lee
Mol Brain. 2020; 13: 69. Published online 2020 May 6. doi: 10.1186/s13041-020-00611-7
PMCID:
PMC7203861
ArticlePDF–755K
14.
A VPS13D spastic ataxia mutation disrupts the conserved adaptor-binding site in yeast Vps13
Samantha K Dziurdzik, Björn D M Bean, Michael Davey, Elizabeth Conibear
Hum Mol Genet. 2020 Mar 13; 29(4): 635–648. Published online 2020 Jan 15. doi: 10.1093/hmg/ddz318
PMCID:
PMC7068118
ArticlePDF–1.5M
15.
VPS13D‐related disorders presenting as a pure and complicated form of hereditary spastic paraplegia
Kishin Koh, Hiroyuki Ishiura, Haruo Shimazaki, Michiko Tsutsumiuchi, Yuta Ichinose, Haitian Nan, Shun Hamada, Toshihisa Ohtsuka, Shoji Tsuji, Yoshihisa Takiyama
Mol Genet Genomic Med. 2020 Mar; 8(3): e1108. Published online 2019 Dec 26. doi: 10.1002/mgg3.1108
PMCID:
PMC7057107
ArticlePDF–486K
16.
Case report: two novel VPS13B mutations in a Chinese family with Cohen syndrome and hyperlinear palms
Sha Zhao, Zhenqing Luo, Zhenghui Xiao, Liping Li, Rui Zhao, Yongjia Yang, Yan Zhong
BMC Med Genet. 2019; 20: 187. Published online 2019 Nov 21. doi: 10.1186/s12881-019-0920-x
PMCID:
PMC6873578
ArticlePDF–1.0M
17.
The importance of phase analysis in multiexon copy number variation detected by aCGH in autosomal recessive disorder loci
Madelyn A. Gillentine, Christian P. Schaaf, Ankita Patel
Am J Med Genet A. Author manuscript; available in PMC 2018 Nov 17.
Published in final edited form as: Am J Med Genet A. 2017 Sep; 173(9): 2485–2488. Published online 2017 Jun 20. doi: 10.1002/ajmg.a.38328
PMCID:
PMC6240332
ArticlePDF–162K
18.
First case report of Cohen syndrome in the Tunisian population caused by VPS13B mutations
Imen Rejeb, Houweyda Jilani, Yasmina Elaribi, Syrine Hizem, Lamia Hila, Julia Lauer Zillahrdt, Jamel Chelly, Lamia Benjemaa
BMC Med Genet. 2017; 18: 134. Published online 2017 Nov 17. doi: 10.1186/s12881-017-0493-5
PMCID:
PMC5693559
ArticlePDF–1.0M
19.
Exome sequencing identifies pathogenic variants of VPS13B in a patient with familial 16p11.2 duplication
Jila Dastan, Chieko Chijiwa, Flamingo Tang, Sally Martell, Ying Qiao, Evica Rajcan-Separovic, M. E. Suzanne Lewis
BMC Med Genet. 2016; 17: 78. Published online 2016 Nov 10. doi: 10.1186/s12881-016-0340-0
PMCID:
PMC5105257
ArticlePDF–1.1M
20.
Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features
Muhammad Arshad Rafiq, Claire S Leblond, Muhammad Arif Nadeem Saqib, Akshita K. Vincent, Amirthagowri Ambalavanan, Falak Sher Khan, Muhammad Ayaz, Naseema Shaheen, Dan Spiegelman, Ghazanfar Ali, Muhammad Amin-ud-din, Sandra Laurent, Huda Mahmood, Mehtab Christian, Nadir Ali, Alanna Fennell, Zohair Nanjiani, Gerald Egger, Chantal Caron, Ahmed Waqas, Muhammad Ayub, Saima Rasheed, Baudouin Forgeot d’Arc, Amelie Johnson, Joyce So, Muhammad Qasim Brohi, Laurent Mottron, Muhammad Ansar, John B Vincent, Lan Xiong
BMC Med Genet. 2015; 16: 41. Published online 2015 Jun 25. doi: 10.1186/s12881-015-0183-0
PMCID:
PMC4631108
ArticlePDF–1.4M

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