PMC Links for Nucleotide (Select 1750897524) - PMC

Select item 38856161.

Non-Syndromic Hearing Impairment in India: High Allelic Heterogeneity among Mutations in TMPRSS3, TMC1, USHIC, CDH23 and TMIE

Aparna Ganapathy, Nishtha Pandey, C. R. Srikumari Srisailapathy, Rajeev Jalvi, Vikas Malhotra, Mohan Venkatappa, Arunima Chatterjee, Meenakshi Sharma, Rekha Santhanam, Shelly Chadha, Arabandi Ramesh, Arun K. Agarwal, Raghunath R. Rangasayee, Anuranjan Anand

PLoS One. 2014; 9(1): e84773. Published online 2014 Jan 8. doi: 10.1371/journal.pone.0084773

PMCID:: PMC3885616

Abstract Article PDF–2.8M

Select item 29091112.

Novel sequence variants in the TMIE gene in families with autosomal recessive nonsyndromic hearing impairment

Regie Lyn P. Santos, Hatem El-Shanti, Shaheen Sikandar, Kwanghyuk Lee, Attya Bhatti, Kai Yan, Maria H. Chahrour, Nathan McArthur, Thanh L. Pham, Amjad Abdullah Mahasneh, Wasim Ahmad, Suzanne M. Leal

J Mol Med (Berl) Author manuscript; available in PMC 2010 Jul 23.

Published in final edited form as: J Mol Med (Berl). 2006 Mar; 84(3): 226–231. Published online 2005 Dec 31. doi: 10.1007/s00109-005-0015-3

PMCID:: PMC2909111

Abstract Article PDF–442K

Select item 60057343.

Whole-exome sequencing of the BDR cohort: evidence to support the role of the PILRA gene in Alzheimer’s disease

T. Patel, K. J. Brookes, J. Turton, S. Chaudhury, T. Guetta-Baranes, R. Guerreiro, J. Bras, D. Hernandez, A. Singleton, P. T. Francis, J. Hardy, K. Morgan

Neuropathol Appl Neurobiol. Author manuscript; available in PMC 2019 Mar 28.

Published in final edited form as: Neuropathol Appl Neurobiol. 2018 Aug; 44(5): 506–521. Published online 2018 Jan 7. doi: 10.1111/nan.12452

PMCID:: PMC6005734

Abstract Article PDF–405K

Select item 46416194.

Comprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss

Tahir Atik, Huseyin Onay, Ayca Aykut, Guney Bademci, Tayfun Kirazli, Mustafa Tekin, Ferda Ozkinay

PLoS One. 2015; 10(11): e0142154. Published online 2015 Nov 11. doi: 10.1371/journal.pone.0142154

PMCID:: PMC4641619

Abstract Article PDF–446K

Select item 45814125.

Screening of genetic alterations related to non-syndromic hearing loss using MassARRAY iPLEX® technology

Maria Carolina CCosta CMelo Svidnicki, Sueli Matilde Silva-Costa, Priscila Zonzini Ramos, Nathalia Zocal Pereira dos Santos, Fábio Tadeu Arrojo Martins, Arthur Menino Castilho, Edi Lúcia Sartorato

BMC Med Genet. 2015; 16: 85. Published online 2015 Sep 23. doi: 10.1186/s12881-015-0232-8

PMCID:: PMC4581412

Abstract Article PDF–759K

Select item 40650086.

Genetic Spectrum of Autosomal Recessive Non-Syndromic Hearing Loss in Pakistani Families

Sobia Shafique, Saima Siddiqi, Margit Schraders, Jaap Oostrik, Humaira Ayub, Ammad Bilal, Muhammad Ajmal, Celia Zazo Seco, Tim M. Strom, Atika Mansoor, Kehkashan Mazhar, Syed Tahir A. Shah, Alamdar Hussain, Maleeha Azam, Hannie Kremer, Raheel Qamar

PLoS One. 2014; 9(6): e100146. Published online 2014 Jun 20. doi: 10.1371/journal.pone.0100146

PMCID:: PMC4065008

Abstract Article PDF–1.0M

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