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Items: 1 to 20 of 35

1.
Variation among DNA banking consent forms: points for clinicians to bank on
Samuel J. Huang, Laura M. Amendola, Darci L. Sternen
J Community Genet. 2022 Aug; 13(4): 389–397. Published online 2022 Jul 14. doi: 10.1007/s12687-022-00601-3
PMCID:
PMC9314484
ArticlePDF–776K
2.
Oral N-acetylcysteine improves cone function in retinitis pigmentosa patients in phase I trial
Peter A. Campochiaro, Mustafa Iftikhar, Gulnar Hafiz, Anam Akhlaq, Grace Tsai, Dagmar Wehling, Lili Lu, G. Michael Wall, Mandeep S. Singh, Xiangrong Kong
J Clin Invest. 2020 Mar 2; 130(3): 1527–1541. Published online 2020 Feb 17. doi: 10.1172/JCI132990
PMCID:
PMC7269599
ArticlePDF–4.6M
3.
A Novel Heterozygous Missense Variant (c.667G>T;p.Gly223Cys) in USH1C That Interferes With Cadherin-Related 23 and Harmonin Interaction Causes Autosomal Dominant Nonsyndromic Hearing Loss
Ju Sun Song, Amel Bahloul, Christine Petit, Sang Jin Kim, Il Joon Moon, Jinhyuk Lee, Change-Seok Ki
Ann Lab Med. 2020 May; 40(3): 224–231. Published online 2019 Dec 18. doi: 10.3343/alm.2020.40.3.224
PMCID:
PMC6933062
ArticlePDF–876K
4.
Aberrant Splicing Events Associated to CDH23 Noncanonical Splice Site Mutations in a Proband with Atypical Usher Syndrome 1
Rebeca Valero, Marta de Castro-Miró, Sofía Jiménez-Ochoa, Juan José Rodríguez-Ezcurra, Gemma Marfany, Roser Gonzàlez-Duarte
Genes (Basel) 2019 Oct; 10(10): 732. Published online 2019 Sep 21. doi: 10.3390/genes10100732
PMCID:
PMC6826400
ArticlePDF–1.2M
5.
High-throughput sequencing for the molecular diagnosis of Usher syndrome reveals 42 novel mutations and consolidates CEP250 as Usher-like disease causative
Carla Fuster-García, Gema García-García, Teresa Jaijo, Neus Fornés, Carmen Ayuso, Miguel Fernández-Burriel, Ana Sánchez-De la Morena, Elena Aller, José M. Millán
Sci Rep. 2018; 8: 17113. Published online 2018 Nov 20. doi: 10.1038/s41598-018-35085-0
PMCID:
PMC6244211
ArticlePDF–4.1M
6.
CEP78 is mutated in a distinct type of Usher syndrome
Qing Fu, Mingchu Xu, Xue Chen, Xunlun Sheng, Zhisheng Yuan, Yani Liu, Huajin Li, Zixi Sun, Huiping Li, Lizhu Yang, Keqing Wang, Fangxia Zhang, Yumei Li, Chen Zhao, Ruifang Sui, Rui Chen
J Med Genet. Author manuscript; available in PMC 2018 Nov 14.
Published in final edited form as: J Med Genet. 2017 Mar; 54(3): 190–195. Published online 2016 Sep 14. doi: 10.1136/jmedgenet-2016-104166
PMCID:
PMC6235689
ArticlePDF–964K
7.
Docosahexaenoic Acid Slows Visual Field Progression in X-Linked Retinitis Pigmentosa: Ancillary Outcomes of the DHAX Trial
Dennis R. Hoffman, Dianna K. Hughbanks-Wheaton, Rand Spencer, Gary E. Fish, N. Shirlene Pearson, Yi-Zhong Wang, Martin Klein, Alison Takacs, Kirsten G. Locke, David G. Birch
Invest Ophthalmol Vis Sci. 2015 Oct; 56(11): 6646–6653. doi: 10.1167/iovs.15-17786
PMCID:
PMC5963311
ArticlePDF–745K
8.
Variants in CIB2 cause DFNB48 and not USH1J
Kevin T Booth, Kimia Kahrizi, Mojgan Babanejad, Hossein Daghagh, Guney Bademci, Sanaz Arzhangi, Davood Zareabdollahi, Duygu Duman, Aziz El-Amraoui, Mustafa Tekin, Hossein Najmabadi, Hela Azaiez, Richard J Smith
Clin Genet. Author manuscript; available in PMC 2019 Apr 1.
Published in final edited form as: Clin Genet. 2018 Apr; 93(4): 812–821. Published online 2018 Feb 12. doi: 10.1111/cge.13170
PMCID:
PMC5851821
ArticlePDF–1.2M
9.
Next‐generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read‐through, and PEX26 mutated in Heimler syndrome
Christine Neuhaus, Tobias Eisenberger, Christian Decker, Sandra Nagl, Cornelia Blank, Markus Pfister, Ingo Kennerknecht, Cornelie Müller‐Hofstede, Peter Charbel Issa, Raoul Heller, Bodo Beck, Klaus Rüther, Diana Mitter, Klaus Rohrschneider, Ute Steinhauer, Heike M. Korbmacher, Dagmar Huhle, Solaf M. Elsayed, Hesham M. Taha, Shahid M. Baig, Heidi Stöhr, Markus Preising, Susanne Markus, Fabian Moeller, Birgit Lorenz, Kerstin Nagel‐Wolfrum, Arif O. Khan, Hanno J. Bolz
Mol Genet Genomic Med. 2017 Sep; 5(5): 531–552. Published online 2017 Jul 6. doi: 10.1002/mgg3.312
PMCID:
PMC5606877
ArticlePDF–3.6M
10.
An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients
Crystel Bonnet, Zied Riahi, Sandra Chantot-Bastaraud, Luce Smagghe, Mélanie Letexier, Charles Marcaillou, Gaëlle M Lefèvre, Jean-Pierre Hardelin, Aziz El-Amraoui, Amrit Singh-Estivalet, Saddek Mohand-Saïd, Susanne Kohl, Anne Kurtenbach, Ieva Sliesoraityte, Ditta Zobor, Souad Gherbi, Francesco Testa, Francesca Simonelli, Sandro Banfi, Ana Fakin, Damjan Glavač, Martina Jarc-Vidmar, Andrej Zupan, Saba Battelino, Loreto Martorell Sampol, Maria Antonia Claveria, Jaume Catala Mora, Shzeena Dad, Lisbeth B Møller, Jesus Rodriguez Jorge, Marko Hawlina, Alberto Auricchio, José-Alain Sahel, Sandrine Marlin, Eberhart Zrenner, Isabelle Audo, Christine Petit
Eur J Hum Genet. 2016 Dec; 24(12): 1730–1738. Published online 2016 Jul 27. doi: 10.1038/ejhg.2016.99
PMCID:
PMC5117943
ArticlePDF–2.0M
11.
Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm
Genet Med. Author manuscript; available in PMC 2015 Nov 1.
Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30
PMCID:
PMC4544753
ArticlePDF–960K
12.
Usher syndrome: hearing loss, retinal degeneration and associated abnormalities
Pranav Mathur, Jun Yang
Biochim Biophys Acta. Author manuscript; available in PMC 2016 Mar 1.
Published in final edited form as: Biochim Biophys Acta. 2015 Mar; 1852(3): 406–420. Published online 2014 Dec 4. doi: 10.1016/j.bbadis.2014.11.020
PMCID:
PMC4312720
ArticlePDF–1.3M
13.
Targeted next generation sequencing for molecular diagnosis of Usher syndrome
María J Aparisi, Elena Aller, Carla Fuster-García, Gema García-García, Regina Rodrigo, Rafael P Vázquez-Manrique, Fiona Blanco-Kelly, Carmen Ayuso, Anne-Françoise Roux, Teresa Jaijo, José M Millán
Orphanet J Rare Dis. 2014; 9: 168. Published online 2014 Nov 18. doi: 10.1186/s13023-014-0168-7
PMCID:
PMC4245769
ArticlePDF–605K
14.
Massively Parallel DNA Sequencing Facilitates Diagnosis of Patients with Usher Syndrome Type 1
Hidekane Yoshimura, Satoshi Iwasaki, Shin-ya Nishio, Kozo Kumakawa, Tetsuya Tono, Yumiko Kobayashi, Hiroaki Sato, Kyoko Nagai, Kotaro Ishikawa, Tetsuo Ikezono, Yasushi Naito, Kunihiro Fukushima, Chie Oshikawa, Takashi Kimitsuki, Hiroshi Nakanishi, Shin-ichi Usami
PLoS One. 2014; 9(3): e90688. Published online 2014 Mar 11. doi: 10.1371/journal.pone.0090688
PMCID:
PMC3949687
ArticlePDF–204K
15.
Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study
Polona Le Quesne Stabej, Zubin Saihan, Nell Rangesh, Heather B Steele-Stallard, John Ambrose, Alison Coffey, Jenny Emmerson, Elene Haralambous, Yasmin Hughes, Karen P Steel, Linda M Luxon, Andrew R Webster, Maria Bitner-Glindzicz
J Med Genet. 2012 Jan; 49(1): 27–36. Published online 2011 Dec 1. doi: 10.1136/jmedgenet-2011-100468
PMCID:
PMC3678402
ArticlePDF–157K
16.
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
ArticlePDF–543K
17.
Heterogeneity in Phenotype of Usher-Congenital Hyperinsulinism Syndrome: Hearing loss, retinitis pigmentosa, and hyperinsulinemic hypoglycemia ranging from severe to mild with conversion to diabetes
Angham N. Al Mutair, Klaus Brusgaard, Bassam Bin-Abbas, Khalid Hussain, Naila Felimban, Adnan Al Shaikh, Henrik T. Christesen
Diabetes Care. 2013 Mar; 36(3): 557–561. Published online 2013 Feb 13. doi: 10.2337/dc12-1174
PMCID:
PMC3579360
ArticlePDF–87K
18.
Exome Sequencing Identifies a Founder Frameshift Mutation in an Alternative Exon of USH1C as the Cause of Autosomal Recessive Retinitis Pigmentosa with Late-Onset Hearing Loss
Samer Khateb, Lina Zelinger, Tamar Ben-Yosef, Saul Merin, Ornit Crystal-Shalit, Menachem Gross, Eyal Banin, Dror Sharon
PLoS One. 2012; 7(12): e51566. Published online 2012 Dec 12. doi: 10.1371/journal.pone.0051566
PMCID:
PMC3520954
ArticlePDF–2.6M
19.
Mutations in CIB2, a calcium and integrin binding protein, cause Usher syndrome type 1J and nonsyndromic deafness DFNB48
Saima Riazuddin, Inna A. Belyantseva, Arnaud Giese, Kwanghyuk Lee, Artur A. Indzhykulian, Sri Pratima Nandamuri, Rizwan Yousaf, Ghanshyam P. Sinha, Sue Lee, David Terrell, Rashmi S. Hegde, Rana A. Ali, Saima Anwar, Paula B. Andrade-Elizondo, Asli Sirmaci, Leslie V. Parise, Sulman Basit, Abdul Wali, Muhammad Ayub, Muhammad Ansar, Wasim Ahmad, Shaheen N. Khan, Javed Akram, Mustafa Tekin, Sheikh Riazuddin, Tiffany Cook, Elke K. Buschbeck, Gregory I. Frolenkov, Suzanne M. Leal, Thomas B. Friedman, Zubair M. Ahmed
Nat Genet. Author manuscript; available in PMC 2013 May 1.
Published in final edited form as: Nat Genet. 2012 Nov; 44(11): 1265–1271. Published online 2012 Sep 30. doi: 10.1038/ng.2426
PMCID:
PMC3501259
ArticlePDF–1.9M
20.
Frequency of Usher Syndrome in Two Pediatric Populations: Implications for genetic screening of Deaf and Hard of Hearing Children
William J. Kimberling, Michael S. Hildebrand, A. Eliot Shearer, Maren L. Jensen, Jennifer A. Halder, Edward S. Cohn, Richard G. Weleber, Edwin M. Stone, Richard J. H. Smith
Genet Med. Author manuscript; available in PMC 2011 Jul 8.
Published in final edited form as: Genet Med. 2010 Aug; 12(8): 512–516. doi: 10.1097/GIM.0b013e3181e5afb8
PMCID:
PMC3131500
ArticlePDF–520K

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