U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from MedGen

Items: 1 to 20 of 500

1.
Clinical Characteristics and Novel ZEB2 Gene Mutation Analysis of Three Chinese Patients with Mowat-Wilson Syndrome
Xiao Han, Qianjuan Zhang, Chengcheng Wang, Bingjuan Han
Pharmgenomics Pers Med. 2023; 16: 777–783. Published online 2023 Aug 23. doi: 10.2147/PGPM.S414161
PMCID:
PMC10460601
ArticlePubReaderPDF–447KCite
2.
Zeb2 DNA-Binding Sites in Neuroprogenitor Cells Reveal Autoregulation and Affirm Neurodevelopmental Defects, Including in Mowat-Wilson Syndrome
Judith C. Birkhoff, Anne L. Korporaal, Rutger W. W. Brouwer, Karol Nowosad, Claudia Milazzo, Lidia Mouratidou, Mirjam C. G. N. van den Hout, Wilfred F. J. van IJcken, Danny Huylebroeck, Andrea Conidi
Genes (Basel) 2023 Mar; 14(3): 629. Published online 2023 Mar 2. doi: 10.3390/genes14030629
PMCID:
PMC10048071
ArticlePubReaderPDF–3.9MCite
3.
First Case Report of Developmental Bilateral Cataract with a Novel Mutation in the ZEB2 Gene Observed in Mowat-Wilson Syndrome
Agnieszka Tronina, Marta Świerczyńska, Erita Filipek
Medicina (Kaunas) 2023 Jan; 59(1): 101. Published online 2023 Jan 2. doi: 10.3390/medicina59010101
PMCID:
PMC9864246
ArticlePubReaderPDF–7.1MCite
4.
Physical, language, neurodevelopment and phenotype-genotype correlation of Chinese patients with Mowat-Wilson syndrome
Lihua Wu, Jianhong Wang, Lei Wang, Qi Xu, Bo Zhou, Zhen Zhang, Qi Li, Hui Wang, Lu Han, Qian Jiang, Lin Wang
Front Genet. 2022; 13: 1016677. Published online 2022 Nov 3. doi: 10.3389/fgene.2022.1016677
PMCID:
PMC9669270
ArticlePubReaderPDF–1.6MCite
5.
ZEB2 haploinsufficient Mowat-Wilson syndrome induced pluripotent stem cells show disrupted GABAergic transcriptional regulation and function
Jens Schuster, Joakim Klar, Ayda Khalfallah, Loora Laan, Jan Hoeber, Ambrin Fatima, Velin Marita Sequeira, Zhe Jin, Sergiy V. Korol, Mikael Huss, Ann Nordgren, Britt Marie Anderlid, Caroline Gallant, Bryndis Birnir, Niklas Dahl
Front Mol Neurosci. 2022; 15: 988993. Published online 2022 Oct 24. doi: 10.3389/fnmol.2022.988993
PMCID:
PMC9637781
ArticlePubReaderPDF–2.6MCite
6.
Mowat-Wilson Syndrome as a Differential Diagnosis in Patients with Congenital Heart Defects and Dysmorphic Facies
Harry Pachajoa, Eidith Gomez-Pineda, Sebastian Giraldo-Ocampo, Juliana Lores
Pharmgenomics Pers Med. 2022; 15: 913–918. Published online 2022 Nov 1. doi: 10.2147/PGPM.S380908
PMCID:
PMC9636884
ArticlePubReaderPDF–434KCite
7.
Three Novel De Novo ZEB2 Variants Identified in Three Unrelated Chinese Patients With Mowat-Wilson Syndrome and A Systematic Review
Youqing Fu, Wanfang Xu, Qingming Wang, Yangyang Lin, Peiqing He, Yanhui Liu, Haiming Yuan
Front Genet. 2022; 13: 853183. Published online 2022 May 12. doi: 10.3389/fgene.2022.853183
PMCID:
PMC9134118
ArticlePubReaderPDF–1.2MCite
8.
A Chinese Boy with Mowat–Wilson Syndrome Caused by a 10 bp Deletion in the ZEB2 Gene
Lin Wei, Xiao Han, Xue Li, Bingjuan Han, Wenying Nie
Pharmgenomics Pers Med. 2021; 14: 1041–1045. Published online 2021 Aug 23. doi: 10.2147/PGPM.S320128
PMCID:
PMC8396371
ArticlePubReaderPDF–452KCite
9.
Clinical characteristics of Polish patients with molecularly confirmed Mowat-Wilson syndrome
Aleksandra Jakubiak, Krzysztof Szczałuba, Magdalena Badura-Stronka, Anna Kutkowska-Kaźmierczak, Anna Jakubiuk-Tomaszuk, Tatiana Chilarska, Jacek Pilch, Natalia Braun-Walicka, Jennifer Castaneda, Katarzyna Wołyńska, Marzena Wiśniewska, Monika Kugaudo, Monika Bielecka, Karolina Pesz, Jolanta Wierzba, Anna Latos-Bieleńska, Ewa Obersztyn, Małgorzata Krajewska-Walasek, Robert Śmigiel
J Appl Genet. 2021; 62(3): 477–485. Published online 2021 May 12. doi: 10.1007/s13353-021-00636-1
PMCID:
PMC8357696
ArticlePubReaderPDF–912KCite
10.
Neurological Phenotype of Mowat-Wilson Syndrome
Duccio Maria Cordelli, Veronica Di Pisa, Anna Fetta, Livia Garavelli, Lucia Maltoni, Luca Soliani, Emilia Ricci
Genes (Basel) 2021 Jul; 12(7): 982. Published online 2021 Jun 27. doi: 10.3390/genes12070982
PMCID:
PMC8305916
ArticlePubReaderPDF–1.6MCite
11.
The Role of ZEB2 in Human CD8 T Lymphocytes: Clinical and Cellular Immune Profiling in Mowat–Wilson Syndrome
Katie Frith, C. Mee Ling Munier, Lucy Hastings, David Mowat, Meredith Wilson, Nabila Seddiki, Rebecca Macintosh, Anthony D. Kelleher, Paul Gray, John James Zaunders
Int J Mol Sci. 2021 May; 22(10): 5324. Published online 2021 May 18. doi: 10.3390/ijms22105324
PMCID:
PMC8158478
ArticlePubReaderPDF–1.9MCite
12.
Interstitial Deletion of 2q22.2q22.3 Involving the Entire ZEB2 Gene in a Case of Mowat-Wilson Syndrome
Khaled Refaat, Nivine Helmy, Mohamed Elawady, Mona El Ruby, Alaa Kamel, Mona Mekkawy, Engy Ashaat, Ola Eid, Amal Mohamed, Mervat Rady
Mol Syndromol. 2021 Apr; 12(2): 87–95. Published online 2021 Mar 1. doi: 10.1159/000513313
PMCID:
PMC8114072
ArticlePubReaderPDF–863KCite
13.
A Case Report of a Prenatally Missed Mowat-Wilson Syndrome With Isolated Corpus Callosum Agenesis
Nesrin Şenbil, Zeynep Arslan, Derya Beyza Sayın Kocakap, Yasemin Bilgili
Child Neurol Open. 2021 Jan-Dec; 8: 2329048X211006511. Published online 2021 Apr 23. doi: 10.1177/2329048X211006511
PMCID:
PMC8072816
ArticlePubReaderPDF–260KCite
14.
Clinical and Molecular Spectrum of Four Patients Diagnosed with Mowat-Wilson Syndrome
Durdugul Ayyildiz Emecen, Esra Isik, Gulen E. Utine, Pelin O. Simsek-Kiper, Tahir Atik, Ferda Ozkinay
Mol Syndromol. 2020 Dec; 11(5-6): 296–301. Published online 2020 Nov 20. doi: 10.1159/000511609
PMCID:
PMC7802445
ArticlePubReaderPDF–358KCite
15.
Successful treatment of drug-resistant status epilepticus in an adult patient with Mowat-Wilson syndrome: A case report
Yasunobu Nosaki, Ken Ohyama, Maki Watanabe, Takamasa Yokoi, Yosuke Kobayashi, Mie Inaba, Nobuaki Wakamatsu, Katsushige Iwai
Epilepsy Behav Rep. 2020; 14: 100410. Published online 2020 Nov 25. doi: 10.1016/j.ebr.2020.100410
PMCID:
PMC7736901
ArticlePubReaderPDF–2.1MCite
16.
Genotype-phenotype analysis in Mowat-Wilson syndrome associated with two novel and two recurrent ZEB2 variants
Dongfang Zou, Lin Wang, Feiqiu Wen, Hongdou Xiao, Jing Duan, Tongda Zhang, Zhenzhen Yin, Qiwen Dong, Jian Guo, Jianxiang Liao
Exp Ther Med. 2020 Dec; 20(6): 263. Published online 2020 Oct 27. doi: 10.3892/etm.2020.9393
PMCID:
PMC7664618
ArticlePubReaderPDF–1.7MCite
17.
A novel nonsense mutation of ZEB2 gene in a Chinese patient with Mowat‐Wilson syndrome
Yuan Hu, Qi Peng, Keze Ma, Siping Li, Chunbao Rao, Baimao Zhong, Xiaomei Lu
J Clin Lab Anal. 2020 Sep; 34(9): e23413. Published online 2020 Jun 10. doi: 10.1002/jcla.23413
PMCID:
PMC7521239
ArticlePubReaderPDF–666KCite
18.
3例Mowat-Wilson综合征患儿的临床特点及遗传学分析
王 慧, 闫 淯淳, 李 颀, 张 震, 肖 萍, 袁 新宇, 李 龙, 姜 茜
Zhongguo Dang Dai Er Ke Za Zhi. 2019 May 25; 21(5): 468–473. Chinese. doi: 10.7499/j.issn.1008-8830.2019.05.014
PMCID:
PMC7389425
ArticlePubReaderPDF–2.5MCite
19.
Mowat-Wilson syndrome: growth charts
Ivan Ivanovski, Olivera Djuric, Serena Broccoli, Stefano Giuseppe Caraffi, Patrizia Accorsi, Margaret P. Adam, Kristina Avela, Magdalena Badura-Stronka, Allan Bayat, Jill Clayton-Smith, Isabella Cocco, Duccio Maria Cordelli, Goran Cuturilo, Veronica Di Pisa, Juliette Dupont Garcia, Roberto Gastaldi, Lucio Giordano, Andrea Guala, Christina Hoei-Hansen, Mie Inaba, Alessandro Iodice, Jens Erik Klint Nielsen, Vladimir Kuburovic, Brissia Lazalde-Medina, Baris Malbora, Seiji Mizuno, Oana Moldovan, Rikke S. Møller, Petra Muschke, Valeria Otelli, Chiara Pantaleoni, Carmelo Piscopo, Maria Luisa Poch-Olive, Igor Prpic, Purificación Marín Reina, Federico Raviglione, Emilia Ricci, Emanuela Scarano, Graziella Simonte, Robert Smigiel, George Tanteles, Luigi Tarani, Aurelien Trimouille, Elvis Terci Valera, Samantha Schrier Vergano, Karin Writzl, Bert Callewaert, Salvatore Savasta, Maria Elisabeth Street, Lorenzo Iughetti, Sergio Bernasconi, Paolo Giorgi Rossi, Livia Garavelli
Orphanet J Rare Dis. 2020; 15: 151. Published online 2020 Jun 15. doi: 10.1186/s13023-020-01418-4
PMCID:
PMC7294656
ArticlePubReaderPDF–2.2MCite
20.
Exome-first approach identified novel INDELs and gene deletions in Mowat-Wilson Syndrome patients
Maria Florencia Gosso, Cristian Rohr, Bianca Brun, Guadalupe Mejico, Fernanda Madeira, Fabian Fay, Melina Klurfan, Martin Vazquez
Hum Genome Var. 2018; 5: 21. Published online 2018 Aug 1. doi: 10.1038/s41439-018-0021-y
PMCID:
PMC6070557
ArticlePubReaderPDF–756KCite

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Filter your results:

Find related data

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
You are here: NCBI > Literature > PubMed Central (PMC)
Support Center