PMC Articles for MedGen (Select 347005) - PMC

Result Filters

Links from MedGen

Items: 1 to 20 of 24

<< First< Prev

Page of 2

Next >Last >>

Select item 101285591.

前庭水管扩大患者颞骨高分辨率CT和SLC26A4基因及听力损失的相关性研究

赵质彬, 祝园平, 符一飞, 姜鸿彦

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2022 Oct 3; 36(10): 736–740. Chinese. doi: 10.13201/j.issn.2096-7993.2022.10.002

PMCID:: PMC10128559

Article PubReader PDF–763K Cite

Select item 97400952.

Analysis of SLC26A4, FOXI1, and KCNJ10 Gene Variants in Patients with Incomplete Partition of the Cochlea and Enlarged Vestibular Aqueduct (EVA) Anomalies

Leonid A. Klarov, Vera G. Pshennikova, Georgii P. Romanov, Aleksandra M. Cherdonova, Aisen V. Solovyev, Fedor M. Teryutin, Nikolay V. Luginov, Petr M. Kotlyarov, Nikolay A. Barashkov

Int J Mol Sci. 2022 Dec; 23(23): 15372. Published online 2022 Dec 6. doi: 10.3390/ijms232315372

PMCID:: PMC9740095

Article PubReader PDF–2.1M Cite

Select item 95442053.

Elucidation of repeat motifs R1‐ and R2‐related TRIOBP variants in autosomal recessive nonsyndromic hearing loss DFNB28 among indigenous South African individuals

Rosemary Ida Kabahuma, Wolf‐Dieter Schubert, Christiaan Labuschagne, Denise Yan, Michael Sean Pepper, Xue‐Zhong Liu

Mol Genet Genomic Med. 2022 Oct; 10(10): e2015. Published online 2022 Aug 27. doi: 10.1002/mgg3.2015

PMCID:: PMC9544205

Article PubReader PDF–1.3M Cite

Select item 88984874.

A newly identified mutation (c.2029 C > T) in SLC26A4 gene is associated with enlarged vestibular aqueducts in a Chinese family

Ting Wu, Limei Cui, Yakui Mou, Wentao Guo, Dawei Liu, Jingjing Qiu, Cong Xu, Jiamin Zhou, Fengchan Han, Yan Sun

BMC Med Genomics. 2022; 15: 49. Published online 2022 Mar 6. doi: 10.1186/s12920-022-01200-4

PMCID:: PMC8898487

Article PubReader PDF–1.4M Cite

Select item 88116755.

Connexin 26 (GJB2) gene mutations linked with autosomal recessive non-syndromic sensor neural hearing loss in the Iraqi population

Anwar Madlool Al-janabi, Habeeb Shuhaib Ahmmed, Salih Mahdi Al-Khafaji

J Med Life. 2021 Nov-Dec; 14(6): 841–846. doi: 10.25122/jml-2021-0152

PMCID:: PMC8811675

Article PubReader PDF–613K Cite

Select item 69821896.

Novel Loss-of-Function Variants in CDC14A are Associated with Recessive Sensorineural Hearing Loss in Iranian and Pakistani Patients

Julia Doll, Susanne Kolb, Linda Schnapp, Aboulfazl Rad, Franz Rüschendorf, Imran Khan, Abolfazl Adli, Atefeh Hasanzadeh, Daniel Liedtke, Sabine Knaup, Michaela AH Hofrichter, Tobias Müller, Marcus Dittrich, Il-Keun Kong, Hyung-Goo Kim, Thomas Haaf, Barbara Vona

Int J Mol Sci. 2020 Jan; 21(1): 311. Published online 2020 Jan 2. doi: 10.3390/ijms21010311

PMCID:: PMC6982189

Article PubReader PDF–1.8M Cite

Select item 66912407.

Identification of novel cadherin 23 variants in a Chinese family with hearing loss

Tianni Xu, Wei Zhu, Ping Wang, Haonan Li, Shuyuan Yu

Mol Med Rep. 2019 Sep; 20(3): 2609–2616. Published online 2019 Jul 15. doi: 10.3892/mmr.2019.10503

PMCID:: PMC6691240

Article PubReader PDF–1.6M Cite

Select item 66041428.

SLC26A4-linked CEVA haplotype correlates with phenotype in patients with enlargement of the vestibular aqueduct

Janet R. Chao, Parna Chattaraj, Tina Munjal, Keiji Honda, Kelly A. King, Christopher K. Zalewski, Wade W. Chien, Carmen C. Brewer, Andrew J. Griffith

BMC Med Genet. 2019; 20: 118. Published online 2019 Jul 2. doi: 10.1186/s12881-019-0853-4

PMCID:: PMC6604142

Article PubReader PDF–648K Cite

Select item 63730299.

Whole-exome sequencing identifies a novel missense variant within LOXHD1 causing rare hearing loss in a Chinese family

Na Shen, Ting Wang, Delei Li, Aiguo Liu, Yanjun Lu

BMC Med Genet. 2019; 20: 30. Published online 2019 Feb 13. doi: 10.1186/s12881-019-0758-2

PMCID:: PMC6373029

Article PubReader PDF–882K Cite

Select item 594163510.

Mutation analysis of SLC26A4 (Pendrin) gene in a Brazilian sample of hearing-impaired subjects

Renata Watanabe Nonose, Karina Lezirovitz, Maria Teresa Balester de Mello Auricchio, Ana Carla Batissoco, Guilherme Lopes Yamamoto, Regina Célia Mingroni-Netto

BMC Med Genet. 2018; 19: 73. Published online 2018 May 8. doi: 10.1186/s12881-018-0585-x

PMCID:: PMC5941635

Article PubReader PDF–981K Cite

Select item 579615811.

Functional Testing of SLC26A4 Variants—Clinical and Molecular Analysis of a Cohort with Enlarged Vestibular Aqueduct from Austria

Sebastian Roesch, Emanuele Bernardinelli, Charity Nofziger, Miklós Tóth, Wolfgang Patsch, Gerd Rasp, Markus Paulmichl, Silvia Dossena

Int J Mol Sci. 2018 Jan; 19(1): 209. Published online 2018 Jan 10. doi: 10.3390/ijms19010209

PMCID:: PMC5796158

Article PubReader PDF–7.2M Cite

Select item 573593612.

Common founder effects of hereditary hemochromatosis, Wilson´s disease, the long QT syndrome and autosomal recessive deafness caused by two novel mutations in the WHRN and TMC1 genes

K. Sigvard Olsson, Olof Wålinder, Ulf Jansson, Maria Wilbe, Marie-Louise Bondeson, Eva-Lena Stattin, Ruma Raha-Chowdhury, Roger Williams

Hereditas. 2017; 154: 16. Published online 2017 Dec 19. doi: 10.1186/s41065-017-0052-2

PMCID:: PMC5735936

Article PubReader PDF–1.1M Cite

Select item 459967813.

Distinct expression and function of whirlin isoforms in the inner ear and retina: an insight into pathogenesis of USH2D and DFNB31

Pranav Dinesh Mathur, Junhuang Zou, Tihua Zheng, Ali Almishaal, Yong Wang, Qian Chen, Le Wang, Deepti Vashist, Steve Brown, Albert Park, Jun Yang

Hum Mol Genet. 2015 Nov 1; 24(21): 6213–6228. Published online 2015 Aug 24. doi: 10.1093/hmg/ddv339

PMCID:: PMC4599678

Article PubReader PDF–2.0M Cite

Select item 359610514.

USH1K, a novel locus for type I Usher syndrome, maps to chromosome 10p11.21-q21.1

Thomas J. Jaworek, Rashid Bhatti, Naureen Latief, Shaheen N. Khan, Saima Riazuddin, Zubair M Ahmed

J Hum Genet. Author manuscript; available in PMC 2013 Apr 1.

Published in final edited form as: J Hum Genet. 2012 Oct; 57(10): 633–637. Published online 2012 Jun 21. doi: 10.1038/jhg.2012.79

PMCID:: PMC3596105

Article PubReader PDF–543K Cite

Select item 854486715.

Disease-associated variants of Gap Junction Beta 2 protein (GJB2) in the deaf population of Southern Punjab of Pakistan

Nabila Kausar, Asma Haque, Muhammad Shareef Masoud, Nazia Nahid, Usman Ali Ashfaq, Ali Muhammad Waryah, Rashid Bhatti, Muhammad Qasim

PLoS One. 2021; 16(10): e0259083. Published online 2021 Oct 25. doi: 10.1371/journal.pone.0259083

PMCID:: PMC8544867

Article PubReader PDF–1.2M Cite

Select item 589107516.

Mutations in Diphosphoinositol-Pentakisphosphate Kinase PPIP5K2 are associated with hearing loss in human and mouse

Rizwan Yousaf, Chunfang Gu, Zubair M. Ahmed, Shaheen N. Khan, Thomas B. Friedman, Sheikh Riazuddin, Stephen B. Shears, Saima Riazuddin

PLoS Genet. 2018 Mar; 14(3): e1007297. Published online 2018 Mar 28. doi: 10.1371/journal.pgen.1007297

PMCID:: PMC5891075

Article PubReader PDF–9.4M Cite

Select item 473195117.

Exome sequencing identifies a mutation in TMC1 as a novel cause of autosomal recessive nonsyndromic hearing loss

Jiongjiong Hu, Fei Liu, Wenjun Xia, Lili Hao, Jun Lan, Zhenghua Zhu, Jing Ye, Duan Ma, Zhaoxin Ma

J Transl Med. 2016; 14: 29. Published online 2016 Jan 28. doi: 10.1186/s12967-016-0780-5

PMCID:: PMC4731951

Article PubReader PDF–1.5M Cite

Select item 449926618.

Genetics of hearing loss in Africans: use of next generation sequencing is the best way forward

Kamogelo Lebeko, Jason Bosch, Jean Jacques Nzeale Noubiap, Collet Dandara, Ambroise Wonkam

Pan Afr Med J. 2015; 20: 383. Published online 2015 Apr 17. doi: 10.11604/pamj.2015.20.383.5230

PMCID:: PMC4499266

Article PubReader PDF–553K Cite

Select item 425094619.

Genotyping Data and Novel Haplotype Diversity of STR Markers in the SLC26A4 Gene Region in Five Ethnic Groups of the Iranian Population

Marjan Mojtabavi Naeini, Hamzeh Mesrian Tanha, Morteza Hashemzadeh Chaleshtori, Sadeq Vallian

Genet Test Mol Biomarkers. 2014 Dec 1; 18(12): 820–825. doi: 10.1089/gtmb.2014.0178

PMCID:: PMC4250946

Article PubReader PDF–230K Cite

Select item 383536920.

SLC26A4 Variations Among Graves’ Hyper-Functioning Thyroid Gland

Hassen Hadj-Kacem, Rihab Kallel, Salima Belguith-Maalej, Mouna Mnif, Ilhem Charfeddine, Abdelmounem Ghorbel, Mohamed Abid, Hammadi Ayadi, Saber Masmoudi

Dis Markers. 2010; 29(2): 63–69. Published online 2010 Nov 2. doi: 10.3233/DMA-2010-0727