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 215

1.
Outcomes of Cochlear implantation in early‐deafened patients with Waardenburg syndrome: A systematic review and narrative synthesis
Amy Lovett, Michael Eastwood, Chris Metcalfe, Jameel Muzaffar, Peter Monksfield, Manohar Bance
Laryngoscope Investig Otolaryngol. 2023 Aug; 8(4): 1094–1107. Published online 2023 Jul 11. doi: 10.1002/lio2.1110
PMCID:
PMC10446317
ArticlePubReaderPDF–912KCite
2.
A De Novo Mutation in SOX10 in a Chinese Boy with Waardenburg Syndrome Type 2
Min Guo, Qing Li, Chaowu Jiang, Shuling Li, Biao Ruan
J Int Adv Otol. 2023 May; 19(3): 255–259. Published online 2023 May 1. doi: 10.5152/iao.2023.22745
PMCID:
PMC10331715
ArticlePubReaderPDF–3.0MCite
3.
A novel variant of the SOX10 gene associated with Waardenburg syndrome type IV
Yanan Wang, Yuqiong Chai, Pai Zhang, Weiwei Zang
BMC Med Genomics. 2023; 16: 147. Published online 2023 Jun 26. doi: 10.1186/s12920-023-01572-1
PMCID:
PMC10294417
ArticlePubReaderPDF–1.2MCite
4.
Two induced pluripotent stem cell (iPSC) lines derived from patients affected by Waardenburg syndrome type 1 retain potential to activate neural crest markers
Mansour Alkobtawi, Patrick Pla, Brigitte Onteniente, Subham Seal, Véronique Pingault, Sandrine Marlin, Anne H. Monsoro-Burq
Stem Cell Res. 2023 Jun; 69: 103074. doi: 10.1016/j.scr.2023.103074
PMCID:
PMC10240564
ArticlePubReaderCite
5.
3例Waardenburg综合征患儿分子遗传学及临床特征分析
林 钻平, 唐 杰, 贠 露, 周 凯, 黄 兰诚, 瞿 申红, 王 涛, 莫 静群, 李 凤提, 唐 凤珠
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2023 Feb 3; 37(2): 107–112. Chinese. doi: 10.13201/j.issn.2096-7993.2023.02.006
PMCID:
PMC10208873
ArticlePubReaderPDF–6.5MCite
6.
Unilateral High Intraocular Pressure, Cataract, and Retinal Detachment in Waardenburg Syndrome
Yahya Al-Najmi, Maram E. A. Abdalla Elsayed, Khalid Alsaggaf, Albatool Alghamdi, Mohammed Albeedh
Case Rep Ophthalmol. 2023 Jan-Dec; 14(1): 203–208. Published online 2023 May 12. doi: 10.1159/000529278
PMCID:
PMC10176194
ArticlePubReaderCite
7.
Waardenburg综合征患儿人工耳蜗植入术后听觉与言语康复效果评价
李 果, 刘 莉, 杨 婷, 郎 春梅, 马 秀丽, 赵 丽萍, 唐 贤超, 王 翔, 张 铁松, 马 静
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2022 May 3; 36(5): 347–352. Chinese. doi: 10.13201/j.issn.2096-7993.2022.05.005
PMCID:
PMC10128261
ArticlePubReaderPDF–798KCite
8.
PAX3 基因新突变致Ⅰ型Waardenburg综合征家系基因型与表型特征分析
李 霞, 赵 声波, 毕 先云, 娄 凡, 曾 文娟, 高 燕, 毛 志勇, 马 静
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2021 Jul 5; 35(7): 621–626. Chinese. doi: 10.13201/j.issn.2096-7993.2021.07.010
PMCID:
PMC10127909
ArticlePubReaderPDF–6.1MCite
9.
新一代测序技术在3例Waardenburg综合征患儿中的应用
徐 彬, 戴 继任, 毕 静, 付 勇
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2021 Oct 5; 35(10): 910-913, 919. Chinese. doi: 10.13201/j.issn.2096-7993.2021.10.010
PMCID:
PMC10127711
ArticlePubReaderPDF–3.5MCite
10.
Identification of nine novel variants across PAX3, SOX10, EDNRB, and MITF genes in Waardenburg syndrome with next‐generation sequencing
Chen‐Yu Lee, Ming‐Yu Lo, You‐Mei Chen, Pei‐Hsuan Lin, Chuan‐Jen Hsu, Pei‐Lung Chen, Chen‐Chi Wu, Jacob Shujui Hsu
Mol Genet Genomic Med. 2022 Dec; 10(12): e2082. Published online 2022 Nov 4. doi: 10.1002/mgg3.2082
PMCID:
PMC9747560
ArticlePubReaderPDF–1009KCite
11.
A comprehensive genotype–phenotype evaluation of eight Chinese probands with Waardenburg syndrome
Sijun Li, Mengyao Qin, Shuang Mao, Lingyun Mei, Xinzhang Cai, Yong Feng, Chufeng He, Jian Song
BMC Med Genomics. 2022; 15: 230. Published online 2022 Nov 3. doi: 10.1186/s12920-022-01379-6
PMCID:
PMC9632049
ArticlePubReaderPDF–3.5MCite
12.
Bilateral cochlear implantation in a child with Waardenburg syndrome: A case report
Xiaohui Wang, Lin Xu, Na Zhang, Ying Zhao
Front Pediatr. 2022; 10: 965884. Published online 2022 Sep 12. doi: 10.3389/fped.2022.965884
PMCID:
PMC9510376
ArticlePubReaderPDF–531KCite
13.
Case report: Exotropia in waardenburg syndrome with novel variations
Lijuan Huang, Maosheng Guo, Ningdong Li
Front Genet. 2022; 13: 969680. Published online 2022 Sep 2. doi: 10.3389/fgene.2022.969680
PMCID:
PMC9478892
ArticlePubReaderPDF–1.8MCite
14.
Case report: Heterogeneous mutations of SOX10 gene in a Chinese infant with Waardenburg syndrome type 4C
Suli Zhang, Shuangzhu Lin, Zhenxian Liu, Wanqi Wang, Jiayi Li, Qiandui Chen, Li Yang, Cui Wang, Qiming Pang
Front Pediatr. 2022; 10: 898693. Published online 2022 Aug 22. doi: 10.3389/fped.2022.898693
PMCID:
PMC9441800
ArticlePubReaderPDF–1.0MCite
15.
Hearing characteristics and cochlear implant effects in children with Waardenburg syndrome: a case series
Wenyan Fan, Kun Ni, Fang Chen, Xiaoyan Li
Transl Pediatr. 2022 Jul; 11(7): 1234–1241. doi: 10.21037/tp-22-271
PMCID:
PMC9360812
ArticlePubReaderPDF–676KCite
16.
Waardenburg syndrome type 4 coexisting with open-angle glaucoma: a case report
Li Zhang, Yue Wan, Ningli Wang
J Med Case Rep. 2022; 16: 264. Published online 2022 Jul 6. doi: 10.1186/s13256-022-03460-1
PMCID:
PMC9258067
ArticlePubReaderPDF–2.4MCite
17.
Isolated Right Superior Vena Cava Drained to Left Atrium in a Child with Waardenburg Syndrome and Neurofibromatosis Type I
Omer A. Algonaid, Yahya H. Almashham, Abdulrahman S. Almoukirish
J Saudi Heart Assoc. 2022; 34(1): 11–14. Published online 2022 Mar 10. doi: 10.37616/2212-5043.1293
PMCID:
PMC8959133
ArticlePubReaderPDF–677KCite
18.
Perioperative Care of a Patient With Waardenburg Syndrome
Miranda Holbrook, Joseph D. Tobias
J Med Cases. 2021 Oct; 12(10): 381–385. Published online 2021 Sep 29. doi: 10.14740/jmc3751
PMCID:
PMC8510664
ArticlePubReaderPDF–290KCite
19.
Identification of novel MITF mutations in Chinese families with Waardenburg syndrome type II
Jing Wang, Yu Lu, Xiaohong Yan, Tian Shen, Linke Li, Yufang Rao, Bo Tan, Wenyu Xiong, Jing Cheng, Yu Zhao, Huijun Yuan
Mol Genet Genomic Med. 2021 Sep; 9(9): e1770. Published online 2021 Jul 29. doi: 10.1002/mgg3.1770
PMCID:
PMC8457691
ArticlePubReaderPDF–973KCite
20.
Waardenburg syndrome type 2A in a large Iranian family with a novel MITF gene mutation
Safoura Zardadi, Sima Rayat, Maryam Hassani Doabsari, Mohammad Keramatipour, Saeid Morovvati
BMC Med Genomics. 2021; 14: 230. Published online 2021 Sep 20. doi: 10.1186/s12920-021-01074-y
PMCID:
PMC8451132
ArticlePubReaderPDF–1.1MCite

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