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Select item 112956881.

Whole-exome sequencing revealed a novel mutation of the ALMS1 gene in a Chinese family with Alström syndrome: a case report

Ming Hu, Shuang Chen, Jinyuan Wu, Rong Wang

BMC Pediatr. 2024; 24: 494. Published online 2024 Aug 2. doi: 10.1186/s12887-024-04949-y

PMCID:: PMC11295688

Article PDF–1.6M

Select item 112789412.

Wolfram Syndrome Type I Case Report and Review—Focus on Early Diagnosis and Genetic Variants

Alexandru Daniel Jurca, Larisa Bianca Galea-Holhos, Aurora Alexandra Jurca, Diter Atasie, Codruta Diana Petchesi, Emilia Severin, Claudia Maria Jurca

Medicina (Kaunas) 2024 Jul; 60(7): 1064. Published online 2024 Jun 28. doi: 10.3390/medicina60071064

PMCID:: PMC11278941

Article PDF–1.3M

Select item 111762753.

Clinical Progression and Manifestations of H Syndrome: A Case Report of Failed Treatment Option

Mohammed Al-Haddab, Fatimah J. Al Muqarrab, Ahmed Alhumidi, Maha Alkofide

Am J Case Rep. 2024; 25: e944198-1–e944198-5. Published online 2024 Jun 8. doi: 10.12659/AJCR.944198

PMCID:: PMC11176275

Article PDF–1.5M

Select item 110432004.

PKHD1L1, a gene involved in the stereocilia coat, causes autosomal recessive nonsyndromic hearing loss

Shelby E. Redfield, Pedro De-la-Torre, Mina Zamani, Hanjun Wang, Hina Khan, Tyler Morris, Gholamreza Shariati, Majid Karimi, Margaret A. Kenna, Go Hun Seo, Hongen Xu, Wei Lu, Sadaf Naz, Hamid Galehdari, Artur A. Indzhykulian, A. Eliot Shearer, Barbara Vona

Hum Genet. 2024; 143(3): 311–329. Published online 2024 Mar 9. doi: 10.1007/s00439-024-02649-2

PMCID:: PMC11043200

Article PDF–4.2M

Select item 102436745.

USH2A mutational spectrum causing syndromic and non-syndromic retinal dystrophies in a large cohort of Mexican patients

Vianey Ordoñez-Labastida, Oscar F. Chacon-Camacho, Victor R. Lopez-Rodriguez, Juan C. Zenteno

Mol Vis. 2023; 29: 31–38. Published online 2023 Apr 29.

PMCID:: PMC10243674

Article PDF–513K

Select item 102202946.

Delayed progressive sensorineural hearing loss due to a novel compound heterozygous PTPRQ mutation in a Chinese patient

Yao Qin, Yi’nan Ma, Zhen’gang Zeng, Zhen Zhong, Yu Qi, Yuhe Liu

J Clin Lab Anal. 2023 Apr; 37(7): e24886. Published online 2023 Apr 27. doi: 10.1002/jcla.24886

PMCID:: PMC10220294

Article PDF–837K

Select item 101285597.

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 PDF–763K

Select item 98586118.

Non-Syndromic Hearing Loss in a Romanian Population: Carrier Status and Frequent Variants in the GJB2 Gene

Anca-Lelia Riza, Camelia Alkhzouz, Marius Farcaș, Andrei Pîrvu, Diana Miclea, Gheorghe Mihuț, Răzvan-Mihail Pleșea, Delia Ștefan, Mihaela Drodar, Călin Lazăr, on behalf of the HINT Study, on behalf of the FUSE Study, Mihai Ioana, Radu Popp

Genes (Basel) 2023 Jan; 14(1): 69. Published online 2022 Dec 26. doi: 10.3390/genes14010069

PMCID:: PMC9858611

Article PDF–639K

Select item 90935899.

The natural history of OTOF-related auditory neuropathy spectrum disorders: a multicenter study

Ryan K. Thorpe, Hela Azaiez, Peina Wu, Qiuju Wang, Lei Xu, Pu Dai, Tao Yang, G. Bradley Schaefer, B. Robert Peters, Kenny H. Chan, Krista S. Schatz, Joann Bodurtha, Nathaniel H. Robin, Yoel Hirsch, Zuhair Abdalla Rahbeeni, Huijun Yuan, Richard J.H. Smith

Hum Genet. Author manuscript; available in PMC 2022 May 11.

Published in final edited form as: Hum Genet. 2022 Apr; 141(3-4): 853–863. Published online 2021 Aug 23. doi: 10.1007/s00439-021-02340-w

PMCID:: PMC9093589

Article PDF–1.1M

Select item 900709410.

Diagnostic Yield of Targeted Hearing Loss Gene Panel Sequencing in a Large German Cohort With a Balanced Age Distribution from a Single Diagnostic Center: An Eight-year Study

Anke Tropitzsch, Thore Schade-Mann, Philipp Gamerdinger, Saskia Dofek, Björn Schulte, Martin Schulze, Florian Battke, Sarah Fehr, Saskia Biskup, Andreas Heyd, Marcus Müller, Hubert Löwenheim, Barbara Vona, Martin Holderried

Ear Hear. 2022 May-Jun; 43(3): 1049–1066. Published online 2021 Nov 8. doi: 10.1097/AUD.0000000000001159

PMCID:: PMC9007094

Article PDF–1.3M

Select item 898593511.

Early onset adult deafness in the Rhodesian Ridgeback dog is associated with an in-frame deletion in the EPS8L2 gene

Takeshi Kawakami, Vandana Raghavan, Alison L. Ruhe, Meghan K. Jensen, Ausra Milano, Thomas C. Nelson, Adam R. Boyko

PLoS One. 2022; 17(4): e0264365. Published online 2022 Apr 6. doi: 10.1371/journal.pone.0264365

PMCID:: PMC8985935

Article PDF–971K

Select item 871786412.

Auditory and Olfactory Findings in Patients with USH2A-related Retinal Degeneration – Findings at Baseline from the Rate of Progression in USH2A-related Retinal Degeneration Natural History Study (RUSH2A)

Alessandro Iannaccone, Carmen C. Brewer, Peiyao Cheng, Jacque L. Duncan, Maureen G. Maguire, Isabelle Audo, Allison R. Ayala, Paul S. Bernstein, Gavin M. Bidelman, Janet K. Cheetham, Richard L. Doty, Todd A. Durham, Robert B. Hufnagel, Mark H. Myers, Katarina Stingl, Wadih M. Zein, Foundation Fighting Blindness Consortium Investigator Group

Am J Med Genet A. Author manuscript; available in PMC 2022 Dec 1.

Published in final edited form as: Am J Med Genet A. 2021 Dec; 185(12): 3717–3727. Published online 2021 Jul 30. doi: 10.1002/ajmg.a.62437

PMCID:: PMC8717864

Article PDF–391K

Select item 773364313.

The association between consanguineous marriage and offspring with congenital hearing loss

Aljohara M. Almazroua, Luluh Alsughayer, Rayanh Ababtain, Yazeed Al-shawi, Abdulrahman A. Hagr

Ann Saudi Med. November-December 2020; 40(6): 456-461. Published online 2020 Dec 3. doi: 10.5144/0256-4947.2020.456

PMCID:: PMC7733643

Article PDF–221K

Select item 724639714.

Jervell and Lange-Nielsen Syndrome due to a Novel Compound Heterozygous KCNQ1 Mutation in a Chinese Family

Yue Qiu, Sen Chen, Xia Wu, Wen-Juan Zhang, Wen Xie, Yuan Jin, Le Xie, Kai Xu, Xue Bai, Hui-Min Zhang, Xiao-Zhou Liu, Xiao-Hui Wang, Yu Sun, Wei-Jia Kong

Neural Plast. 2020; 2020: 3569359. Published online 2020 May 16. doi: 10.1155/2020/3569359

PMCID:: PMC7246397

Article PDF–941K

Select item 707413815.

Enhancing Genetic Medicine: Rapid and Cost-Effective Molecular Diagnosis for a GJB2 Founder Mutation for Hearing Impairment in Ghana

Samuel M. Adadey, Edmond Tingang Wonkam, Elvis Twumasi Aboagye, Darius Quansah, Adwoa Asante-Poku, Osbourne Quaye, Geoffrey K. Amedofu, Gordon A. Awandare, Ambroise Wonkam

Genes (Basel) 2020 Feb; 11(2): 132. Published online 2020 Jan 27. doi: 10.3390/genes11020132