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Items: 11

1.
Clinical and molecular characterization of POU3F4 mutations in multiple DFNX2 Chinese families
Yu Su, Xue Gao, Sha-Sha Huang, Jing-Ning Mao, Bang-Qing Huang, Jian-Dong Zhao, Dong-Yang Kang, Xin Zhang, Pu Dai
BMC Med Genet. 2018; 19: 157. Published online 2018 Sep 4. doi: 10.1186/s12881-018-0630-9
PMCID:
PMC6122742
AbstractArticlePDF–1.5M
2.
A POU3F4 Mutation Causes Nonsyndromic Hearing Loss in a Chinese X-linked Recessive Family
Wan Du, Ming-Kun Han, Da-Yong Wang, Bing Han, Liang Zong, Lan Lan, Ju Yang, Qi Shen, Lin-Yi Xie, Lan Yu, Jing Guan, Qiu-Ju Wang
Chin Med J (Engl) 2017 Jan 5; 130(1): 88–92. doi: 10.4103/0366-6999.196565
PMCID:
PMC5221118
AbstractPDF–638K
3.
Novel and De Novo Mutations Extend Association of POU3F4 with Distinct Clinical and Radiological Phenotype of Hearing Loss
Agnieszka Pollak, Urszula Lechowicz, Anna Kędra, Piotr Stawiński, Małgorzata Rydzanicz, Mariusz Furmanek, Małgorzata Brzozowska, Maciej Mrówka, Henryk Skarżyński, Piotr H. Skarżyński, Monika Ołdak, Rafał Płoski
PLoS One. 2016; 11(12): e0166618. Published online 2016 Dec 12. doi: 10.1371/journal.pone.0166618
PMCID:
PMC5152817
AbstractArticlePDF–2.1M
4.
Elucidation of the unique mutation spectrum of severe hearing loss in a Vietnamese pediatric population
Jae Joon Han, Pham Dinh Nguyen, Doo-Yi Oh, Jin Hee Han, Ah-Reum Kim, Min Young Kim, Hye-Rim Park, Lam Huyen Tran, Nguyen Huu Dung, Ja-Won Koo, Jun Ho Lee, Seung Ha Oh, Hoang Anh Vu, Byung Yoon Choi
Sci Rep. 2019; 9: 1604. Published online 2019 Feb 7. doi: 10.1038/s41598-018-38245-4
PMCID:
PMC6367484
AbstractArticlePDF–1.4M
5.
De novo mutation in X-linked hearing loss-associated POU3F4 in a sporadic case of congenital hearing loss
Hideaki Moteki, A Eliot Shearer, Shuji Izumi, Yamato Kubota, Hela Azaiez, Kevin T Booth, Christina M Sloan, Diana L Kolbe, Richard JH Smith, Shin-ichi Usami
Ann Otol Rhinol Laryngol. Author manuscript; available in PMC 2015 May 23.
Published in final edited form as: Ann Otol Rhinol Laryngol. 2015 May; 124(1 0): 169S–176S. Published online 2015 Mar 19. doi: 10.1177/0003489415575042
PMCID:
PMC4441833
AbstractArticlePDF–688K
6.
OCTAMER-BINDING TRANSCRIPTION FACTORS: GENOMICS AND FUNCTIONS
Feng-Qi Zhao
Front Biosci (Landmark Ed) Author manuscript; available in PMC 2015 Mar 4.
Published in final edited form as: Front Biosci (Landmark Ed). 2013; 18: 1051–1071. Published online 2013 Jun 1. doi: 10.2741/4162
PMCID:
PMC4349413
AbstractArticlePDF–1.5M
7.
A generic cycling hypoxia-derived prognostic gene signature: application to breast cancer profiling
Romain Boidot, Samuel Branders, Thibault Helleputte, Laila Illan Rubio, Pierre Dupont, Olivier Feron
Oncotarget. 2014 Aug; 5(16): 6947–6963. Published online 2014 Jul 31. doi: 10.18632/oncotarget.2285
PMCID:
PMC4196175
AbstractArticlePDF–1.5M
8.
Direct Conversion of Human Fibroblasts into Neuronal Restricted Progenitors
Qingjian Zou, Quanmei Yan, Juan Zhong, Kepin Wang, Haitao Sun, Xiaoling Yi, Liangxue Lai
J Biol Chem. 2014 Feb 21; 289(8): 5250–5260. Published online 2014 Jan 2. doi: 10.1074/jbc.M113.516112
PMCID:
PMC3931081
AbstractArticlePDF–3.6M
9.
Diagnostic Application of Targeted Resequencing for Familial Nonsyndromic Hearing Loss
Byung Yoon Choi, Gibeom Park, Jungsoo Gim, Ah Reum Kim, Bong-Jik Kim, Hyo-Sang Kim, Joo Hyun Park, Taesung Park, Seung-Ha Oh, Kyu-Hee Han, Woong-Yang Park
PLoS One. 2013; 8(8): e68692. Published online 2013 Aug 22. doi: 10.1371/journal.pone.0068692
PMCID:
PMC3750053
AbstractArticlePDF–1.4M
10.
A Pilot Study Comparing HPV-Positive and HPV-Negative Head and Neck Squamous Cell Carcinomas by Whole Exome Sequencing
Anthony C. Nichols, Michelle Chan-Seng-Yue, John Yoo, Wei Xu, Sandeep Dhaliwal, John Basmaji, Christopher C. T. Szeto, Samuel Dowthwaite, Biljana Todorovic, Maud H. W. Starmans, Philippe Lambin, David A. Palma, Kevin Fung, Jason H. Franklin, Bret Wehrli, Keith Kwan, James Koropatnick, Joe S. Mymryk, Paul Boutros, John W. Barrett
ISRN Oncol. 2012; 2012: 809370. Published online 2012 Dec 12. doi: 10.5402/2012/809370
PMCID:
PMC3530794
AbstractArticlePDF–2.4M
11.
Molecular and Clinical Studies of X-linked Deafness Among Pakistani Families
Ali M. Waryah, Zubair M. Ahmed, Daniel I. Choo, Robert A. Sisk, Munir A. Binder, Mohsin Shahzad, Shaheen N. Khan, Thomas B. Friedman, Sheikh Riazuddin, Saima Riazuddin
J Hum Genet. Author manuscript; available in PMC 2012 Jan 1.
Published in final edited form as: J Hum Genet. 2011 Jul; 56(7): 534–540. Published online 2011 Jun 2. doi: 10.1038/jhg.2011.55
Correction in:
volume 56 on page 752
PMCID:
PMC3143270
AbstractArticlePDF–1.3M

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