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Select item 102902221.

The association of genetic polymorphisms in protocadherin 15 with sudden sensorineural hearing loss in a Chinese population

Ying Lan, Tao Hou, Lu Peng, Yongpeng Li, Shihua Yin

J Clin Lab Anal. 2023 Apr; 37(8): e24896. Published online 2023 May 17. doi: 10.1002/jcla.24896

PMCID:: PMC10290222

Article PDF–258K

Select item 75472252.

Structural determinants of protocadherin-15 mechanics and function in hearing and balance perception

Deepanshu Choudhary, Yoshie Narui, Brandon L. Neel, Lahiru N. Wimalasena, Carissa F. Klanseck, Pedro De-la-Torre, Conghui Chen, Raul Araya-Secchi, Elakkiya Tamilselvan, Marcos Sotomayor

Proc Natl Acad Sci U S A. 2020 Oct 6; 117(40): 24837–24848. Published online 2020 Sep 22. doi: 10.1073/pnas.1920444117

PMCID:: PMC7547225

Article PDF–5.1M

Select item 55608633.

Discovery of novel plasma proteins as biomarkers for the development of incisional hernias after midline incision in colorectal cancer patients: the ColoCare Study

Jürgen Böhm, Frank Pianka, Nina Stüttgen, Junghyun Rho, Biljana Gigic, Yuzheng Zhang, Nina Habermann, Petra Schrotz-King, Clare Abbenhardt-Martin, Lin Zielske, Paul D. Lampe, Alexis Ulrich, Markus Diener, Cornelia M. Ulrich

Surgery. Author manuscript; available in PMC 2018 Mar 1.

Published in final edited form as: Surgery. 2017 Mar; 161(3): 808–817. Published online 2016 Oct 13. doi: 10.1016/j.surg.2016.08.025

PMCID:: PMC5560863

Article PDF–805K

Select item 54444174.

Molecular Analysis of Twelve Pakistani Families with Nonsyndromic or Syndromic Hearing Loss

Rongrong Wang, Shirui Han, Amjad Khan, Xue Zhang

Genet Test Mol Biomarkers. 2017 May 1; 21(5): 316–321. Published online 2017 May 1. doi: 10.1089/gtmb.2016.0328

PMCID:: PMC5444417

Article PDF–307K

Select item 53639535.

A partial calcium-free linker confers flexibility to inner-ear protocadherin-15

Robert E. Powers, Rachelle Gaudet, Marcos Sotomayor

Structure. Author manuscript; available in PMC 2018 Mar 7.

Published in final edited form as: Structure. 2017 Mar 7; 25(3): 482–495. Published online 2017 Feb 23. doi: 10.1016/j.str.2017.01.014

PMCID:: PMC5363953

Article PDF–1.6M

Select item 50739946.

Utilization of amplicon-based targeted sequencing panel for the massively parallel sequencing of sporadic hearing impairment patients from Saudi Arabia

Ashraf Dallol, Kamal Daghistani, Aisha Elaimi, Wissam A. Al-Wazani, Afaf Bamanie, Malek Safiah, Samira Sagaty, Layla Taha, Rawabi Zahed, Osama Bajouh, Adeel Gulzar Chaudhary, Mamdooh Abdullah Gari, Rola Turki, Mohammed Hussein Al-Qahtani, Adel Mohammed Abuzenadah

BMC Med Genet. 2016; 17(Suppl 1): 67. Published online 2016 Oct 10. doi: 10.1186/s12881-016-0329-8

PMCID:: PMC5073994

Article PDF–547K

Select item 50086427.

Diversity of the Genes Implicated in Algerian Patients Affected by Usher Syndrome

Samia Abdi, Amel Bahloul, Asma Behlouli, Jean-Pierre Hardelin, Mohamed Makrelouf, Kamel Boudjelida, Malek Louha, Ahmed Cheknene, Rachid Belouni, Yahia Rous, Zahida Merad, Djamel Selmane, Mokhtar Hasbelaoui, Crystel Bonnet, Akila Zenati, Christine Petit

PLoS One. 2016; 11(9): e0161893. Published online 2016 Sep 1. doi: 10.1371/journal.pone.0161893

PMCID:: PMC5008642

Article PDF–1.7M

Select item 48935038.

Frequency of Usher syndrome type 1 in deaf children by massively parallel DNA sequencing

Hidekane Yoshimura, Maiko Miyagawa, Kozo Kumakawa, Shin-ya Nishio, Shin-ichi Usami

J Hum Genet. 2016 May; 61(5): 419–422. Published online 2016 Jan 21. doi: 10.1038/jhg.2015.168

PMCID:: PMC4893503

Article PDF–330K

Select item 48868959.

In silico analysis of a disease-causing mutation in PCDH15 gene in a consanguineous Pakistani family with Usher phenotype

Shamim Saleha, Muhammad Ajmal, Muhammad Jamil, Muhammad Nasir, Abdul Hameed

Int J Ophthalmol. 2016; 9(5): 662–668. Published online 2016 May 18. doi: 10.18240/ijo.2016.05.04

PMCID:: PMC4886895

Article PDF–1021K

Select item 482599510.

Investigation of Rare Single-Nucleotide PCDH15 Variants in Schizophrenia and Autism Spectrum Disorders

Kanako Ishizuka, Hiroki Kimura, Chenyao Wang, Jingrui Xing, Itaru Kushima, Yuko Arioka, Tomoko Oya-Ito, Yota Uno, Takashi Okada, Daisuke Mori, Branko Aleksic, Norio Ozaki

PLoS One. 2016; 11(4): e0153224. Published online 2016 Apr 8. doi: 10.1371/journal.pone.0153224

PMCID:: PMC4825995

Article PDF–368K

Select item 473336311.

CHARACTERIZING THE SPECTRUM OF AUTOSOMAL RECESSIVE HEREDITARY HEARING LOSS IN IRAN

Christina M Sloan-Heggen, Mojgan Babanejad, Maryam Beheshtian, Allen C Simpson, Kevin T Booth, Fariba Ardalani, Kathy L Frees, Marzieh Mohseni, Reza Mozafari, Zohreh Mehrjoo, Leila Jamali, Saeideh Vaziri, Tara Akhtarkhavari, Niloofar Bazazzadegan, Nooshin Nikzat, Sanaz Arzhangi, Farahnaz Sabbagh, Hasan Otukesh, Seyed Morteza Seifati, Hossein Khodaei, Maryam Taghdiri, Nicole C Meyer, Ahmad Daneshi, Mohammad Farhadi, Kimia Kahrizi, Richard JH Smith, Hela Azaiez, Hossein Najmabadi

J Med Genet. Author manuscript; available in PMC 2016 Jan 30.

Published in final edited form as: J Med Genet. 2015 Dec; 52(12): 823–829. Published online 2015 Oct 7. doi: 10.1136/jmedgenet-2015-103389

PMCID:: PMC4733363

Article PDF–1.4M

Select item 455996612.

Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients

Lichun Jiang, Xiaofang Liang, Yumei Li, Jing Wang, Jacques Eric Zaneveld, Hui Wang, Shan Xu, Keqing Wang, Binbin Wang, Rui Chen, Ruifang Sui

Orphanet J Rare Dis. 2015; 10: 110. Published online 2015 Sep 4. doi: 10.1186/s13023-015-0329-3

PMCID:: PMC4559966

Article PDF–2.6M

Select item 444411613.

Targeted Next-Generation Sequencing in Uyghur Families with Non-Syndromic Sensorineural Hearing Loss

Ying Chen, Zhentao Wang, Zhaoyan Wang, Dongye Chen, Yongchuan Chai, Xiuhong Pang, Lianhua Sun, Xiaowen Wang, Tao Yang, Hao Wu

PLoS One. 2015; 10(5): e0127879. Published online 2015 May 26. doi: 10.1371/journal.pone.0127879

PMCID:: PMC4444116

Article PDF–844K

Select item 424576914.

Targeted next generation sequencing for molecular diagnosis of Usher syndrome

María J Aparisi, Elena Aller, Carla Fuster-García, Gema García-García, Regina Rodrigo, Rafael P Vázquez-Manrique, Fiona Blanco-Kelly, Carmen Ayuso, Anne-Françoise Roux, Teresa Jaijo, José M Millán

Orphanet J Rare Dis. 2014; 9: 168. Published online 2014 Nov 18. doi: 10.1186/s13023-014-0168-7

PMCID:: PMC4245769

Article PDF–605K

Select item 423146915.

Diverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: a cross-sectional, multi-center next-generation sequencing study

Hideki Mutai, Naohiro Suzuki, Atsushi Shimizu, Chiharu Torii, Kazunori Namba, Noriko Morimoto, Jun Kudoh, Kimitaka Kaga, Kenjiro Kosaki, Tatsuo Matsunaga

Orphanet J Rare Dis. 2013; 8: 172. Published online 2013 Oct 28. doi: 10.1186/1750-1172-8-172

PMCID:: PMC4231469

Article PDF–1.4M

Select item 416676716.

Domain analyses of Usher syndrome causing Clarin-1 and GPR98 protein models

Sehrish Haider Khan, Muhammad Rizwan Javed, Muhammad Qasim, Samar Shahzadi, Asma Jalil, Shahid ur Rehman

Bioinformation. 2014; 10(8): 491–495. Published online 2014 Aug 30. doi: 10.6026/97320630010491

PMCID:: PMC4166767

Article PDF–347K

Select item 367900117.

Molecular Remodeling of Tip Links Underlies Mechanosensory Regeneration in Auditory Hair Cells

Artur A. Indzhykulian, Ruben Stepanyan, Anastasiia Nelina, Kateri J. Spinelli, Zubair M. Ahmed, Inna A. Belyantseva, Thomas B. Friedman, Peter G. Barr-Gillespie, Gregory I. Frolenkov

PLoS Biol. 2013 Jun; 11(6): e1001583. Published online 2013 Jun 11. doi: 10.1371/journal.pbio.1001583

PMCID:: PMC3679001

Article PDF–3.4M

Select item 367840218.

Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study

Polona Le Quesne Stabej, Zubin Saihan, Nell Rangesh, Heather B Steele-Stallard, John Ambrose, Alison Coffey, Jenny Emmerson, Elene Haralambous, Yasmin Hughes, Karen P Steel, Linda M Luxon, Andrew R Webster, Maria Bitner-Glindzicz

J Med Genet. 2012 Jan; 49(1): 27–36. Published online 2011 Dec 1. doi: 10.1136/jmedgenet-2011-100468

PMCID:: PMC3678402

Article PDF–157K

Select item 339849319.

Mutation screening of the PCDH15 gene in Spanish patients with Usher syndrome type I

Teresa Jaijo, Aki Oshima, Elena Aller, Carol Carney, Shin-ichi Usami, José M. Millán, William J. Kimberling

Mol Vis. 2012; 18: 1719–1726. Published online 2012 Jun 23.

PMCID:: PMC3398493

Article PDF–480K

Select item 304167820.

Novel human genetic variants associated with extrapulmonary tuberculosis: a pilot genome wide association study

Noffisat O Oki, Alison A Motsinger-Reif, Paulo RZ Antas, Shawn Levy, Steven M Holland, Timothy R Sterling

BMC Res Notes. 2011; 4: 28. Published online 2011 Jan 31. doi: 10.1186/1756-0500-4-28

PMCID:: PMC3041678

Article PDF–994K

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