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Items: 1 to 20 of 38

1.
Syndromic Retinitis Pigmentosa: A 15-Patient Study
Ianne Pessoa Holanda, Priscila Hae Hyun Rim, Rare Genomes Project Consortium, Mara Sanches Guaragna, Vera Lúcia Gil-da-Silva-Lopes, Carlos Eduardo Steiner
Genes (Basel) 2024 Apr; 15(4): 516. Published online 2024 Apr 20. doi: 10.3390/genes15040516
PMCID:
PMC11050127
ArticlePDF–1.3M
2.
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
ArticlePDF–513K
3.
Childhood Hearing Impairment in Senegal
Yacouba Dia, Birame Loum, Yaay Joor Koddu Biigé Dieng, Jean Pascal Demba Diop, Samuel Mawuli Adadey, Elvis Twumasi Aboagye, Seydi Abdoul Ba, Abdoul Aziz Touré, Fallou Niang, Pierre Diaga Sarr, Cheikh Ahmed Tidiane Ly, Andrea Regina Gnilane Sène, Carmen De Kock, Rhiyana Bassier, Kalinka Popel, Rokhaya Ndiaye Diallo, Ambroise Wonkam, Bay Karim Diallo
Genes (Basel) 2023 Mar; 14(3): 562. Published online 2023 Feb 23. doi: 10.3390/genes14030562
PMCID:
PMC10048257
ArticlePDF–3.0M
4.
Baseline Microperimetry and OCT in the RUSH2A Study: Structure-Function Association and Correlation with Disease Severity
Eleonora M. Lad, Jacque L. Duncan, Wendi Liang, Maureen G. Maguire, Allison R. Ayala, Isabelle Audo, David G. Birch, Joseph Carroll, Janet K. Cheetham, Todd A. Durham, Abigail T. Fahim, Jessica Loo, Zengtian Deng, Dibyendu Mukherjee, Elise Heon, Robert B. Hufnagel, Bin Guan, Alessandro Iannaccone, Glenn J. Jaffe, Christine N. Kay, Michel Michaelides, Mark E. Pennesi, Ajoy Vincent, Christina Y. Weng, Sina Farsiu, Foundation Fighting Blindness Consortium Investigator Group
Am J Ophthalmol. Author manuscript; available in PMC 2023 Dec 1.
Published in final edited form as: Am J Ophthalmol. 2022 Dec; 244: 98–116. Published online 2022 Aug 22. doi: 10.1016/j.ajo.2022.08.013
PMCID:
PMC9712171
ArticlePDF–1.1M
5.
Improving genetic diagnosis by disease-specific, ACMG/AMP variant interpretation guidelines for hearing loss
So Young Kim, Bong Jik Kim, Doo Yi Oh, Jin Hee Han, Nayoung Yi, Namju Justin Kim, Moo Kyun Park, Changwon Keum, Go Hun Seo, Byung Yoon Choi
Sci Rep. 2022; 12: 12457. Published online 2022 Jul 21. doi: 10.1038/s41598-022-16661-x
PMCID:
PMC9304357
ArticlePDF–1.2M
6.
Novel bi-allelic variants expand the SPTBN4-related genetic and phenotypic spectrum
Markus Buelow, David Süßmuth, Laurie D. Smith, Omid Aryani, Claudia Castiglioni, Werner Stenzel, Enrico Bertini, Markus Schuelke, Ellen Knierim
Eur J Hum Genet. 2021 Jul; 29(7): 1121–1128. Published online 2021 Mar 26. doi: 10.1038/s41431-021-00846-5
PMCID:
PMC8298470
ArticlePDF–1.5M
7.
Molecular Inversion Probe-Based Sequencing of USH2A Exons and Splice Sites as a Cost-Effective Screening Tool in USH2 and arRP Cases
Janine Reurink, Adrian Dockery, Dominika Oziębło, G. Jane Farrar, Monika Ołdak, Jacoline B. ten Brink, Arthur A. Bergen, Tuula Rinne, Helger G. Yntema, Ronald J. E. Pennings, L. Ingeborgh van den Born, Marco Aben, Jaap Oostrik, Hanka Venselaar, Astrid S. Plomp, M. Imran Khan, Erwin van Wijk, Frans P. M. Cremers, Susanne Roosing, Hannie Kremer
Int J Mol Sci. 2021 Jun; 22(12): 6419. Published online 2021 Jun 15. doi: 10.3390/ijms22126419
PMCID:
PMC8232728
ArticlePDF–1.7M
8.
A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing
Yoel Hirsch, Chayada Tangshewinsirikul, Kevin T. Booth, Hela Azaiez, Devorah Yefet, Adina Quint, Tzvi Weiden, Zippora Brownstein, Michal Macarov, Bella Davidov, John Pappas, Rachel Rabin, Margaret A. Kenna, Andrea M. Oza, Katherine Lafferty, Sami S. Amr, Heidi L. Rehm, Diana L. Kolbe, Kathy Frees, Carla Nishimura, Minjie Luo, Chantal Farra, Cynthia C. Morton, Sholem Y. Scher, Josef Ekstein, Karen B. Avraham, Richard J. H. Smith, Jun Shen
Eur J Hum Genet. 2021 Jun; 29(6): 988–997. Published online 2021 Jan 4. doi: 10.1038/s41431-020-00790-w
PMCID:
PMC8187401
ArticlePDF–1.7M
9.
Homozygote loss-of-function variants in the human COCH gene underlie hearing loss
Nada Danial-Farran, Elena Chervinsky, Prathamesh T Nadar-Ponniah, Eran Cohen Barak, Shahar Taiber, Morad Khayat, Karen B. Avraham, Stavit A. Shalev
Eur J Hum Genet. 2021 Feb; 29(2): 338–342. Published online 2020 Sep 16. doi: 10.1038/s41431-020-00724-6
PMCID:
PMC7868373
ArticlePDF–737K
10.
Functional Evaluation of a Rare Variant c.516G>C (p.Trp172Cys) in the GJB2 (Connexin 26) Gene Associated with Nonsyndromic Hearing Loss
Ekaterina A. Maslova, Konstantin E. Orishchenko, Olga L. Posukh
Biomolecules. 2021 Jan; 11(1): 61. Published online 2021 Jan 5. doi: 10.3390/biom11010061
PMCID:
PMC7824951
ArticlePDF–2.2M
11.
Clinical and preclinical therapeutic outcome metrics for USH2A-related disease
Maria Toms, Adam M Dubis, Erik de Vrieze, Dhani Tracey-White, Andreas Mitsios, Matthew Hayes, Sanne Broekman, Sarah Baxendale, Nattawan Utoomprurkporn, Doris Bamiou, Maria Bitner-Glindzicz, Andrew R Webster, Erwin Van Wijk, Mariya Moosajee
Hum Mol Genet. 2020 Jul 21; 29(11): 1882–1899. Published online 2020 Jan 30. doi: 10.1093/hmg/ddaa004
PMCID:
PMC7372554
ArticlePDF–2.1M
12.
Auditory Detection Thresholds and Cochlear Resistivity Differ Between Pediatric Cochlear Implant Listeners With Enlarged Vestibular Aqueduct and Those With Connexin-26 Mutations
Kelly N. Jahn, Molly D. Bergan, Julie G. Arenberg
Am J Audiol. 2020 Mar; 29(1): 23–34. Published online 2020 Jan 14. doi: 10.1044/2019_AJA-19-00054
PMCID:
PMC7229779
ArticlePDF–276K
13.
Molecular epidemiology of Chinese Han deaf patients with bi-allelic and mono-allelic GJB2 mutations
Xiaoyu Yu, Yun Lin, Jun Xu, Tuanjie Che, Lin Li, Tao Yang, Hao Wu
Orphanet J Rare Dis. 2020; 15: 29. Published online 2020 Jan 28. doi: 10.1186/s13023-020-1311-2
PMCID:
PMC6986010
ArticlePDF–549K
14.
Detailed Clinical Features of Deafness Caused by a Claudin-14 Variant
Tomohiro Kitano, Shin-ichiro Kitajiri, Shin-ya Nishio, Shin-ichi Usami
Int J Mol Sci. 2019 Sep; 20(18): 4579. Published online 2019 Sep 16. doi: 10.3390/ijms20184579
PMCID:
PMC6769696
ArticlePDF–2.2M
15.
Expansion of phenotypic spectrum of MYO15A pathogenic variants to include postlingual onset of progressive partial deafness
Mun Young Chang, Chung Lee, Jin Hee Han, Min Young Kim, Hye-Rim Park, Nayoung Kim, Woong-Yang Park, Doo Yi Oh, Byung Yoon Choi
BMC Med Genet. 2018; 19: 29. Published online 2018 Feb 27. doi: 10.1186/s12881-018-0541-9
PMCID:
PMC6389081
ArticlePDF–1.3M
16.
Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss
Elodie M. Richard, Regie LP. Santos-Cortez, Rabia Faridi, Atteeq U. Rehman, Kwanghyuk Lee, Mohsin Shahzad, Anushree Acharya, Asma A. Khan, Ayesha Imtiaz, Imen Chakchouk, Christina Takla, Izoduwa Abbe, Maria Rafeeq, Khurram Liaqat, Taimur Chaudhry, Michael J. Bamshad, University of Washington Center for Mendelian Genomics, Isabelle Schrauwen, Shaheen N. Khan, Robert J. Morell, Saba Zafar, Muhammad Ansar, Zubair M. Ahmed, Wasim Ahmad, Sheik Riazuddin, Thomas B. Friedman, Suzanne M. Leal, Saima Riazuddin
Hum Mutat. Author manuscript; available in PMC 2020 Jan 1.
Published in final edited form as: Hum Mutat. 2019 Jan; 40(1): 53–72. Published online 2018 Nov 18. doi: 10.1002/humu.23666
PMCID:
PMC6296877
ArticlePDF–1.4M
17.
Hereditäre Schwerhörigkeit in der Türkei
F. Apaydin, M. Pfister, M. Iber, T. Kandogan, S.M. Leal, U. Brändle, O. Cura, H.P Zenner
HNO. Author manuscript; available in PMC 2018 Oct 11.German.
Published in final edited form as: HNO. 1998 Sep; 46(9): 809–814. doi: 10.1007/s001060050317
PMCID:
PMC6181136
ArticlePDF–643K
18.
Emerging roles of TRIO and F-actin-binding protein in human diseases
Sungjin Park, Hyunji Lee, Minhee Kim, Jisoo Park, Seon-Hwan Kim, Jongsun Park
Cell Commun Signal. 2018; 16: 29. Published online 2018 Jun 11. doi: 10.1186/s12964-018-0237-y
PMCID:
PMC5996455
ArticlePDF–1.1M
19.
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
ArticlePDF–1.1M
20.
Antisense oligonucleotide therapy rescues disruptions in organization of exploratory movements associated with Usher syndrome type 1C in mice
Tia N. Donaldson, Kelsey T. Jennings, Lucia A. Cherep, Adam M. McNeela, Frederic F. Depreux, Francine M. Jodelka, Michelle L. Hastings, Douglas G. Wallace
Behav Brain Res. Author manuscript; available in PMC 2019 Feb 15.
Published in final edited form as: Behav Brain Res. 2018 Feb 15; 338: 76–87. Published online 2017 Oct 14. doi: 10.1016/j.bbr.2017.10.012
PMCID:
PMC5683898
ArticlePDF–4.8M

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