PMC Links for Nucleotide (Select 1519245701) - PMC

Select item 59264761.

A Novel p.G141R Mutation in ILDR1 Leads to Recessive Nonsyndromic Deafness DFNB42 in Two Chinese Han Families

Xueling Wang, Longhao Wang, Hu Peng, Tao Yang, Hao Wu

Neural Plast. 2018; 2018: 7272308. Published online 2018 Apr 16. doi: 10.1155/2018/7272308

PMCID:: PMC5926476

Select item 56126952.

Identification of a novel frameshift mutation in the ILDR1 gene in a UAE family, mutations review and phenotype genotype correlation

Abdelaziz Tlili, Abdullah Fahd Al Mutery, Mona Mahfood, Walaa Kamal Eddine Ahmad Mohamed, Khalid Bajou

PLoS One. 2017; 12(9): e0185281. Published online 2017 Sep 25. doi: 10.1371/journal.pone.0185281

PMCID:: PMC5612695

Abstract Article PDF–2.8M

Select item 50726253.

A Large Genome-Wide Association Study of Age-Related Hearing Impairment Using Electronic Health Records

Thomas J. Hoffmann, Bronya J. Keats, Noriko Yoshikawa, Catherine Schaefer, Neil Risch, Lawrence R. Lustig

PLoS Genet. 2016 Oct; 12(10): e1006371. Published online 2016 Oct 20. doi: 10.1371/journal.pgen.1006371

PMCID:: PMC5072625

Abstract Article PDF–3.7M

Select item 32470764.

Genomewide meta-analysis identifies novel multiple sclerosis susceptibility loci

Nikolaos A. Patsopoulos, the BSP MS Genetics working group and the steering committees of studies evaluating IFNb-1b and a CCR1-antagonist, ANZgene Consortium, GeneMSA, International Multiple Sclerosis Genetics Consortium, Paul I.W. de Bakker

Ann Neurol. Author manuscript; available in PMC 2012 Dec 1.

Published in final edited form as: Ann Neurol. 2011 Dec; 70(6): 897–912. doi: 10.1002/ana.22609

Correction in:: volume 73 on page 561

PMCID:: PMC3247076

Abstract Article PDF–620K

Select item 30357045.

Loss-of-Function Mutations of ILDR1 Cause Autosomal-Recessive Hearing Impairment DFNB42

Guntram Borck, Atteeq Ur Rehman, Kwanghyuk Lee, Hans-Martin Pogoda, Naseebullah Kakar, Simon von Ameln, Nicolas Grillet, Michael S. Hildebrand, Zubair M. Ahmed, Gudrun Nürnberg, Muhammad Ansar, Sulman Basit, Qamar Javed, Robert J. Morell, Nabilah Nasreen, A. Eliot Shearer, Adeel Ahmad, Kimia Kahrizi, Rehan S. Shaikh, Rana A. Ali, Shaheen N. Khan, Ingrid Goebel, Nicole C. Meyer, William J. Kimberling, Jennifer A. Webster, Dietrich A. Stephan, Martin R. Schiller, Melanie Bahlo, Hossein Najmabadi, Peter G. Gillespie, Peter Nürnberg, Bernd Wollnik, Saima Riazuddin, Richard J.H. Smith, Wasim Ahmad, Ulrich Müller, Matthias Hammerschmidt, Thomas B. Friedman, Sheikh Riazuddin, Suzanne M. Leal, Jamil Ahmad, Christian Kubisch

Am J Hum Genet. 2011 Feb 11; 88(2): 127–137. doi: 10.1016/j.ajhg.2010.12.011

PMCID:: PMC3035704

Abstract Article PDF–1.0M

Select item 29090966.

A Novel Autosomal Recessive Nonsyndromic Hearing Impairment Locus (DFNB42) Maps to Chromosome 3q13.31-q22.3

Muhammad Aslam, Muhammad Wajid, Maria H. Chahrour, Muhammad Ansar, Sayedul Haque, Thanh L. Pham, Regie P. Santos, Kai Yan, Wasim Ahmad, Suzanne M. Leal

Am J Med Genet A. Author manuscript; available in PMC 2010 Jul 23.

Published in final edited form as: Am J Med Genet A. 2005 Feb 15; 133A(1): 18–22. doi: 10.1002/ajmg.a.30508

PMCID:: PMC2909096

Abstract Article PDF–507K

Select item 43232467.

Downsloping High-Frequency Hearing Loss Due to Inner Ear Tricellular Tight Junction Disruption by a Novel ILDR1 Mutation in the Ig-Like Domain

Nayoung K. D. Kim, Tomohito Higashi, Kyoung Yeul Lee, Ah Reum Kim, Shin-ichiro Kitajiri, Min Young Kim, Mun Young Chang, Veronica Kim, Seung-Ha Oh, Dongsup Kim, Mikio Furuse, Woong-Yang Park, Byung Yoon Choi

PLoS One. 2015; 10(2): e0116931. Published online 2015 Feb 10. doi: 10.1371/journal.pone.0116931

PMCID:: PMC4323246

Abstract Article PDF–3.5M

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