PMC Links for Nucleotide (Select 28144906) - PMC

Select item 54311791.

A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula

Arif O. Khan, Elvir Becirovic, Christian Betz, Christine Neuhaus, Janine Altmüller, Lisa Maria Riedmayr, Susanne Motameny, Gudrun Nürnberg, Peter Nürnberg, Hanno J. Bolz

Sci Rep. 2017; 7: 1411. Published online 2017 May 3. doi: 10.1038/s41598-017-01577-8

PMCID:: PMC5431179

Abstract Article PDF–2.7M

Select item 39496872.

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

Abstract Article PDF–204K

Select item 30395073.

Alternative splice variants of the USH3A gene Clarin 1 (CLRN1)

Hanna Västinsalo, Reetta Jalkanen, Astra Dinculescu, Juha Isosomppi, Scott Geller, John G Flannery, William W Hauswirth, Eeva-Marja Sankila

Eur J Hum Genet. 2011 Jan; 19(1): 30–35. Published online 2010 Aug 18. doi: 10.1038/ejhg.2010.140

PMCID:: PMC3039507

Abstract Article PDF–391K

Select item 13781014.

Possible interaction between USH1B and USH3 gene products as implied by apparent digenic deafness inheritance.

A Adato, H Kalinski, D Weil, H Chaib, M Korostishevsky, B Bonne-Tamir

Am J Hum Genet. 1999 Jul; 65(1): 261–265. doi: 10.1086/302438

PMCID:: PMC1378101

Summary PDF–763K

Select item 62046055.

Curating Clinically Relevant Transcripts for the Interpretation of Sequence Variants

Marina T. DiStefano, Sarah E. Hemphill, Brandon J. Cushman, Mark J. Bowser, Elizabeth Hynes, Andrew R. Grant, Rebecca K. Siegert, Andrea M. Oza, Michael A. Gonzalez, Sami S. Amr, Heidi L. Rehm, Ahmad N. Abou Tayoun

J Mol Diagn. 2018 Nov; 20(6): 789–801. doi: 10.1016/j.jmoldx.2018.06.005

PMCID:: PMC6204605

Abstract Article

Select item 51179436.

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

Abstract Article PDF–2.0M

Select item 45599667.

Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients

Lichun Jiang, Xiaofang Liang, Yumei Li, Jing Wang, Jacques Eric Zaneveld, Hui Wang, Shan Xu, Keqing Wang, Binbin Wang, Rui Chen, Ruifang Sui

Orphanet J Rare Dis. 2015; 10: 110. Published online 2015 Sep 4. doi: 10.1186/s13023-015-0329-3

PMCID:: PMC4559966

Abstract Article PDF–2.6M

Select item 42457698.

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

Abstract Article PDF–605K

Select item 35380419.

Two novel disease-causing mutations in the CLRN1 gene in patients with Usher syndrome type 3

Gema García-García, María J. Aparisi, Regina Rodrigo, María D. Sequedo, Carmen Espinós, Jordi Rosell, José L. Olea, M. Paz Mendívil, María A Ramos-Arroyo, Carmen Ayuso, Teresa Jaijo, Elena Aller, José M. Millán

Mol Vis. 2012; 18: 3070–3078. Published online 2012 Dec 29.

PMCID:: PMC3538041

Abstract Article PDF–820K

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