PMC Links for Nucleotide (Select 218505692) - PMC

Select item 30395071.

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 51179432.

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 41667673.

Domain analyses of Usher syndrome causing Clarin-1 and GPR98 protein models

Sehrish Haider Khan, Muhammad Rizwan Javed, Muhammad Qasim, Samar Shahzadi, Asma Jalil, Shahid ur Rehman

Bioinformation. 2014; 10(8): 491–495. Published online 2014 Aug 30. doi: 10.6026/97320630010491

PMCID:: PMC4166767

Abstract Article PDF–347K

Select item 35380414.

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

Select item 29707265.

Experience with Carrier Screening and Prenatal Diagnosis for Sixteen Ashkenazi Jewish Genetic Diseases

Stuart A. Scott, Lisa Edelmann, Liu Liu, Minjie Luo, Robert J. Desnick, Ruth Kornreich

Hum Mutat. Author manuscript; available in PMC 2011 Nov 1.

Published in final edited form as: Hum Mutat. 2010 Nov; 31(11): 1240–1250. doi: 10.1002/humu.21327

PMCID:: PMC2970726

Abstract Article PDF–358K

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