PMC Articles for MedGen (Select 355336) - PMC

Result Filters

Links from MedGen

Items: 11

Select item 83913421.

Benefits of Exome Sequencing in Children with Suspected Isolated Hearing Loss

Roxane Van Heurck, Maria Teresa Carminho-Rodrigues, Emmanuelle Ranza, Caterina Stafuzza, Lina Quteineh, Corinne Gehrig, Eva Hammar, Michel Guipponi, Marc Abramowicz, Pascal Senn, Nils Guinand, Helene Cao-Van, Ariane Paoloni-Giacobino

Genes (Basel) 2021 Aug; 12(8): 1277. Published online 2021 Aug 20. doi: 10.3390/genes12081277

PMCID:: PMC8391342

Abstract Article PDF–1.2M

Select item 83330922.

Novel KCNQ4 variants in different functional domains confer genotype- and mechanism-based therapeutics in patients with nonsyndromic hearing loss

Sang-Yeon Lee, Hyun Been Choi, Mina Park, Il Soon Choi, Jieun An, Ami Kim, Eunku Kim, Nahyun Kim, Jin Hee Han, Min young Kim, Seung min Lee, Doo-Yi Oh, Bong Jik Kim, Nayoung Yi, Nayoung, K. D. Kim, Chung Lee, Woong-Yang Park, Young Ik Koh, Heon Yung Gee, Hyun Sung Cho, Tong Mook Kang, Byung Yoon Choi

Exp Mol Med. 2021 Jul; 53(7): 1192–1204. Published online 2021 Jul 28. doi: 10.1038/s12276-021-00653-4

PMCID:: PMC8333092

Abstract Article PDF–2.7M

Select item 71106543.

Middle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: a case report

Kodai Kume, Hiroyuki Morino, Ryosuke Miyamoto, Yukiko Matsuda, Ryosuke Ohsawa, Yuhei Kanaya, Yui Tada, Takashi Kurashige, Hideshi Kawakami

BMC Med Genet. 2020; 21: 68. Published online 2020 Mar 31. doi: 10.1186/s12881-020-01002-4

PMCID:: PMC7110654

Abstract Article PDF–727K

Select item 64256094.

A novel pathogenic variant in OSBPL2 linked to hereditary late-onset deafness in a Mongolian family

Ningjin Wu, Husile Husile, Liqing Yang, Yaning Cao, Xing Li, Wenyan Huo, Haihua Bai, Yangjian Liu, Qizhu Wu

BMC Med Genet. 2019; 20: 43. Published online 2019 Mar 20. doi: 10.1186/s12881-019-0781-3

PMCID:: PMC6425609

Abstract Article PDF–2.2M

Select item 60349955.

Genetic analysis of CHARGE syndrome identifies overlapping molecular biology

Amanda Moccia, Anshika Srivastava, Jennifer M. Skidmore, John A. Bernat, Marsha Wheeler, University of Washington Center for Mendelian Genomics, Jessica X.Chong, Deborah Nickerson, Michael Bamshad, Margaret A. Hefner, Donna M. Martin, Stephanie L. Bielas

Genet Med. Author manuscript; available in PMC 2018 Jul 6.

Published in final edited form as: Genet Med. 2018 Sep; 20(9): 1022–1029. Published online 2018 Jan 4. doi: 10.1038/gim.2017.233

PMCID:: PMC6034995

Abstract Article PDF–432K

Select item 51350526.

Comprehensive Genetic Analysis of Japanese Autosomal Dominant Sensorineural Hearing Loss Patients

Yoh-ichiro Iwasa, Shin-ya Nishio, Shin-ichi Usami

PLoS One. 2016; 11(12): e0166781. Published online 2016 Dec 2. doi: 10.1371/journal.pone.0166781

PMCID:: PMC5135052

Abstract Article PDF–1020K

Select item 50140767.

Defects of mutant DNMT1 are linked to a spectrum of neurological disorders

Jonathan Baets, Xiaohui Duan, Yanhong Wu, Gordon Smith, William W. Seeley, Inès Mademan, Nicole M. McGrath, Noah C. Beadell, Julie Khoury, Maria-Victoria Botuyan, Georges Mer, Gregory A. Worrell, Kaori Hojo, Jessica DeLeon, Matilde Laura, Yo-Tsen Liu, Jan Senderek, Joachim Weis, Peter Van den Bergh, Shana L. Merrill, Mary M. Reilly, Henry Houlden, Murray Grossman, Steven S. Scherer, Peter De Jonghe, Peter J. Dyck, Christopher J. Klein

Brain. 2015 Apr; 138(4): 845–861. Published online 2015 Feb 10. doi: 10.1093/brain/awv010

PMCID:: PMC5014076

Abstract Article PDF–1.4M

Select item 49280298.

Phenotypic heterogeneity in females with X-linked Alport syndrome

Samuel C. Allred, Karen E. Weck, Adil Gasim, Amy K. Mottl

Clin Nephrol. 2015 Nov; 84(5): 296–300. Published online 2015 Aug 7. doi: 10.5414/CN108561

PMCID:: PMC4928029

Abstract Article PDF–729K

Select item 47076549.

Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53

Imen Chakchouk, M’hamed Grati, Guney Bademci, Mariem Bensaid, Qi Ma, Amine Chakroun, Joseph Foster, II, Denise Yan, Duygu Duman, Oscar Diaz-Horta, Abdelmonem Ghorbel, Rahul Mittal, Amjad Farooq, Mustafa Tekin, Saber Masmoudi, Xue Zhong Liu

Mol Genet Genomics. Author manuscript; available in PMC 2016 Jan 11.

Published in final edited form as: Mol Genet Genomics. 2015 Aug; 290(4): 1327–1334. Published online 2015 Jan 30. doi: 10.1007/s00438-015-0995-9

PMCID:: PMC4707654

Abstract Article PDF–1.1M

Select item 372835610.

Exome Sequencing and Linkage Analysis Identified Tenascin-C (TNC) as a Novel Causative Gene in Nonsyndromic Hearing Loss

Yali Zhao, Feifan Zhao, Liang Zong, Peng Zhang, Liping Guan, Jianguo Zhang, Dayong Wang, Jing Wang, Wei Chai, Lan Lan, Qian Li, Bing Han, Ling Yang, Xin Jin, Weiyan Yang, Xiaoxiang Hu, Xiaoning Wang, Ning Li, Yingrui Li, Christine Petit, Jun Wang, Huanming Yang Jian Wang, Qiuju Wang

PLoS One. 2013; 8(7): e69549. Published online 2013 Jul 30. doi: 10.1371/journal.pone.0069549