PMC Articles for MedGen (Select 65923) - PMC

Result Filters

Links from MedGen

Items: 1 to 20 of 500

<< First< Prev

Page of 25

Next >Last >>

Select item 109581761.

A novel frameshift mutation in SOX10 gene induced Waardenburg syndrome type II

Xiuli Ma, Liping Zhao, Li Li, Xia Li, Chaohong Ding, Jing Ma

Mol Genet Genomic Med. 2024 Mar; 12(3): e2296. Published online 2024 Feb 28. doi: 10.1002/mgg3.2296

PMCID:: PMC10958176

Article PDF–1.6M

Select item 108992262.

Investigation of a novel TBC1D24 variation causing autosomal dominant non-syndromic hearing loss

Peiliang Lei, Qingwen Zhu, Wenrong Dong

Sci Rep. 2024; 14: 4734. Published online 2024 Feb 27. doi: 10.1038/s41598-024-55435-5

PMCID:: PMC10899226

Article PDF–3.0M

Select item 108987403.

Comparative exploration of mammalian deafness gene homologues in the Drosophila auditory organ shows genetic correlation between insect and vertebrate hearing

Daniel C. Sutton, Jonathan C. Andrews, Dylan M. Dolezal, Ye Jin Park, Hongjie Li, Daniel F. Eberl, Shinya Yamamoto, Andrew K. Groves

PLoS One. 2024; 19(2): e0297846. Published online 2024 Feb 27. doi: 10.1371/journal.pone.0297846

PMCID:: PMC10898740

Article PDF–2.8M

Select item 108958704.

Hearing Loss Among Families with 2 and More Affected Members in Golestan Province, Iran: A Cross-Sectional Study of 320 Families

Zainab M. Al Sudani, Teymoor Khosravi, Morteza Oladnabi

J Int Adv Otol. 2024 Jan; 20(1): 44–49. Published online 2024 Jan 1. doi: 10.5152/iao.2024.231214

PMCID:: PMC10895870

Article PDF–2.9M

Select item 108816395.

Screening copy number variations in 35 unsolved inherited retinal disease families

Xiaozhen Liu, Hehua Dai, Genlin Li, Ruixuan Jia, Xiang Meng, Shicheng Yu, Liping Yang, Jing Hong

Hum Genet. 2024; 143(2): 197–210. Published online 2024 Jan 29. doi: 10.1007/s00439-023-02631-4

PMCID:: PMC10881639

Article PDF–9.3M

Select item 108799196.

Cochlear Nucleus Transcriptome of a Fragile X Mouse Model Reveals Candidate Genes for Hyperacusis

Hitomi Sakano, Michael S. Castle, Paromita Kundu

Laryngoscope. Author manuscript; available in PMC 2024 Mar 14.

Published in final edited form as: Laryngoscope. 2024 Mar; 134(3): 1363–1371. Published online 2023 Aug 8. doi: 10.1002/lary.30936

PMCID:: PMC10879919

Article PDF–1.7M

Select item 108792127.

The genetic basis and the diagnostic yield of genetic testing related to nonsyndromic hearing loss in Qatar

Shaza Alkhidir, Karen El-Akouri, Nader Al-Dewik, Houssein Khodjet-El-khil, Sarah Okashah, Nazmul Islam, Tawfeg Ben-Omran, Mashael Al-Shafai

Sci Rep. 2024; 14: 4202. Published online 2024 Feb 20. doi: 10.1038/s41598-024-52784-z

PMCID:: PMC10879212

Article PDF–1.2M

Select item 108640918.

An Elderly Woman with Complaints of Pain and Hearing Loss, Diagnosed with CMT1A with PMP22 Duplication

Naoki Takegami, Masashi Hamada, Nanaka Yamaguchi-Takegami, Kaori Sakuishi, Tatsushi Toda

Intern Med. 2024 Jan 15; 63(2): 315–318. Published online 2023 May 24. doi: 10.2169/internalmedicine.1883-23

PMCID:: PMC10864091

Article PDF–357K

Select item 108603289.

Spectrum of variants associated with inherited retinal dystrophies in Northeast Mexico

Rocio A. Villafuerte-de la Cruz, Lucas A. Garza-Garza, Manuel Garza-Leon, Cesar Rodriguez-De la Torre, Cinthya Parra-Bernal, Ilse Vazquez-Camas, David Ramos-Gonzalez, Andrea Rangel-Padilla, Angelina Espino Barros-Palau, Jose Nava-García, Javier Castillo-Velazquez, Erick Castillo-De Leon, Agustin Del Valle-Penella, Jorge E. Valdez-Garcia, Augusto Rojas-Martinez

BMC Ophthalmol. 2024; 24: 60. Published online 2024 Feb 12. doi: 10.1186/s12886-023-03276-7

PMCID:: PMC10860328

Article PDF–1.1M

Select item 1085807610.

The human OPA1^delTTAG mutation induces adult onset and progressive auditory neuropathy in mice

Corentin Affortit, Carolanne Coyat, Anissa Rym Saidia, Jean-Charles Ceccato, Majida Charif, Emmanuelle Sarzi, Frédéric Flamant, Romain Guyot, Chantal Cazevieille, Jean-Luc Puel, Guy Lenaers, Jing Wang

Cell Mol Life Sci. 2024; 81(1): 80. Published online 2024 Feb 9. doi: 10.1007/s00018-024-05115-4

PMCID:: PMC10858076

Article PDF–15M

Select item 1080461811.

MPZL2—a common autosomal recessive deafness gene related to moderate sensorineural hearing loss in the Chinese population

Lang Zhang, Jin-Yuan Yang, Qiu-Quan Wang, Xue Gao, Guo-Jian Wang, Ming-Yu Han, Dong-Yang Kang, Dong-Yi Han, Sha-Sha Huang, Yong-Yi Yuan

BMC Med Genomics. 2024; 17: 32. Published online 2024 Jan 23. doi: 10.1186/s12920-023-01786-3

PMCID:: PMC10804618

Article PDF–1.1M

Select item 1076759512.

Exome sequencing‐aided precise diagnosis of four families with type I Stickler syndrome

Runyi Tian, Ping Tong, Yuhong He, Liyu Zang, Shimin Zhou, Qi Tian

Mol Genet Genomic Med. 2024 Jan; 12(1): e2331. Published online 2023 Dec 11. doi: 10.1002/mgg3.2331

PMCID:: PMC10767595

Article PDF–14M

Select item 1076486813.

A novel method for detecting nine hotspot mutations of deafness genes in one tube

Yang Yu, Jun Zhang, Yuxia Zhan, Guanghua Luo

Sci Rep. 2024; 14: 454. Published online 2024 Jan 3. doi: 10.1038/s41598-023-50928-1

PMCID:: PMC10764868

Article PDF–2.8M

Select item 1076479614.

Analysis of deafness susceptibility gene of neonates in northern Guangdong, China

Zhanzhong Ma, Wenbo Huang, Jing Xu, Jianwu Qiu, Yulan Liu, Meixian Ye, Shushu Fan

Sci Rep. 2024; 14: 362. Published online 2024 Jan 3. doi: 10.1038/s41598-023-49530-2

PMCID:: PMC10764796

Article PDF–1.4M

Select item 1076315315.

Novel compound heterozygous MYO15A splicing variants in autosomal recessive non-syndromic hearing loss

Kaifeng Zheng, Sheng Lin, Jian Gao, Shiguo Chen, Jindi Su, Zhiqiang Liu, Shan Duan

BMC Med Genomics. 2024; 17: 4. Published online 2024 Jan 2. doi: 10.1186/s12920-023-01777-4

PMCID:: PMC10763153

Article PDF–2.6M

Select item 1074895116.

Identification of a novel compound heterozygous pathogenic variant in MYO7A causing Usher syndrome type IB in a Chinese patient: a case report

Ya’nan Zhang, Xinyi Guo, Ling Hao, Meihui Tian, Yuan Ma, Yong Tang

J Int Med Res. 2023 Dec; 51(12): 03000605231218924. Published online 2023 Dec 23. doi: 10.1177/03000605231218924

PMCID:: PMC10748951

Article PDF–1.1M

Select item 1074410817.

Pathogenic Variants in USH1G/SANS Alter Protein Interaction with Pre-RNA Processing Factors PRPF6 and PRPF31 of the Spliceosome

Jacques S. Fritze, Felizitas F. Stiehler, Uwe Wolfrum

Int J Mol Sci. 2023 Dec; 24(24): 17608. Published online 2023 Dec 18. doi: 10.3390/ijms242417608

PMCID:: PMC10744108

Article PDF–3.3M

Select item 1074399918.

DNAJC30 Gene Variants Are a Frequent Cause of a Rare Disease: Leber Hereditary Optic Neuropathy in Polish Patients

Anna Skorczyk-Werner, Katarzyna Tońska, Aleksandra Maciejczuk, Katarzyna Nowomiejska, Magdalena Korwin, Monika Ołdak, Anna Wawrocka, Maciej R. Krawczyński

Int J Mol Sci. 2023 Dec; 24(24): 17496. Published online 2023 Dec 15. doi: 10.3390/ijms242417496

PMCID:: PMC10743999

Article PDF–968K

Select item 1074340219.

Predicting the Impact of OTOF Gene Missense Variants on Auditory Neuropathy Spectrum Disorder

Dmitry A. Dmitriev, Boris V. Shilov, Michail M. Polunin, Anton D. Zadorozhny, Alexey A. Lagunin

Int J Mol Sci. 2023 Dec; 24(24): 17240. Published online 2023 Dec 7. doi: 10.3390/ijms242417240

PMCID:: PMC10743402

Article PDF–577K

Select item 1072491020.

Stable long-term outcomes after cochlear implantation in subjects with TMPRSS3 associated hearing loss: a retrospective multicentre study

M. L. A. Fehrmann, W. J. Huinck, M. E. G. Thijssen, L. Haer-Wigman, H. G. Yntema, L. J. C. Rotteveel, J. C. C. Widdershoven, T. Goderie, M. F. van Dooren, E. H. Hoefsloot, M. P. van der Schroeff, E. A. M. Mylanus, DOOFNL consortium, C. P. Lanting, R. J. E. Pennings

J Otolaryngol Head Neck Surg. 2023; 52: 82. Published online 2023 Dec 15. doi: 10.1186/s40463-023-00680-3