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Select item 959951.

Recombinant p51 as Antigen in an Immune Complex Transfer Enzyme Immunoassay of Immunoglobulin G Antibody to Human Immunodeficiency Virus Type 1

Kazuya Hashinaka, Seiichi Hashida, Ichiro Nishikata, Akio Adachi, Shinichi Oka, Eiji Ishikawa

Clin Diagn Lab Immunol. 2000 Nov; 7(6): 967–976. doi: 10.1128/cdli.7.6.967-976.2000

PMCID:: PMC95995

Abstract Article PDF–198K

Select item 5472472.

Genetic Analysis of a Unique Bacteriocin, Smb, Produced by Streptococcus mutans GS5

Hideo Yonezawa, Howard K. Kuramitsu

Antimicrob Agents Chemother. 2005 Feb; 49(2): 541–548. doi: 10.1128/AAC.49.2.541-548.2005

PMCID:: PMC547247

Abstract Article PDF–264K

Select item 68079563.

Preparations of recombinant HIV‐1 p66 antigen to improve the specificity of immune complex transfer enzyme immunoassay of antibody IgG to HIV‐1 reverse transcriptase

Kazuya Hashinaka, Ichiro Nishikata, Seiichi Hashida, Akio Adachi, Shinichi Oka, Eiji Ishikawa

J Clin Lab Anal. 2000; 14(4): 169–179. Published online 2000 Jul 18. doi: 10.1002/1098-2825(2000)14:4<169::AID-JCLA6>3.0.CO;2-E

PMCID:: PMC6807956

Abstract Article PDF–203K

Select item 2983044.

A nuclear protein associated with human cancer cells binds preferentially to a human repetitive DNA sequence.

M L Law, J Z Gao, T T Puck

Proc Natl Acad Sci U S A. 1989 Nov; 86(21): 8472–8476. doi: 10.1073/pnas.86.21.8472

PMCID:: PMC298304

Summary Page Browse PDF–1.2M

Select item 111792095.

High prevalence of exon-13 variants in USH2A-related retinal dystrophies in Taiwanese population

Yu-Wei Lin, Yu-Shu Huang, Chien-Yu Lin, Chao-Wen Lin, Chen-Chi Wu, Chang-Hao Yang, Chung-May Yang, Pei-Lung Chen, Ta-Ching Chen

Orphanet J Rare Dis. 2024; 19: 238. Published online 2024 Jun 15. doi: 10.1186/s13023-024-03238-2

PMCID:: PMC11179209

Abstract Article PDF–2.0M

Select item 45060566.

Nonsyndromic retinitis pigmentosa is highly prevalent in the Jerusalem region with a high frequency of founder mutations

Dror Sharon, Eyal Banin

Mol Vis. 2015; 21: 783–792. Published online 2015 Jul 17.

PMCID:: PMC4506056

Abstract Article PDF–1.3M

Select item 44593927.

Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT)

Lonneke Haer-Wigman, Hadas Newman, Rina Leibu, Nathalie M. Bax, Hagit N Baris, Leah Rizel, Eyal Banin, Amir Massarweh, Susanne Roosing, Dirk J. Lefeber, Marijke N. Zonneveld-Vrieling, Ofer Isakov, Noam Shomron, Dror Sharon, Anneke I. Den Hollander, Carel B. Hoyng, Frans P.M. Cremers, Tamar Ben-Yosef

Hum Mol Genet. 2015 Jul 1; 24(13): 3742–3751. Published online 2015 Apr 9. doi: 10.1093/hmg/ddv118

PMCID:: PMC4459392

Abstract Article PDF–585K

Select item 42266348.

Combined NGS Approaches Identify Mutations in the Intraflagellar Transport Gene IFT140 in Skeletal Ciliopathies with Early Progressive Kidney Disease

Miriam Schmidts, Valeska Frank, Tobias Eisenberger, Saeed al Turki, Albane A. Bizet, Dinu Antony, Suzanne Rix, Christian Decker, Nadine Bachmann, Martin Bald, Tobias Vinke, Burkhard Toenshoff, Natalia Di Donato, Theresa Neuhann, Jane L. Hartley, Eamonn R. Maher, Radovan Bogdanović, Amira Peco-Antić, Christoph Mache, Matthew E. Hurles, Ivana Joksić, Marija Guć-Šćekić, Jelena Dobricic, Mirjana Brankovic-Magic, UK10K, Hanno J. Bolz, Gregory J. Pazour, Philip L. Beales, Peter J. Scambler, Sophie Saunier, Hannah M. Mitchison, Carsten Bergmann

Hum Mutat. Author manuscript; available in PMC 2014 Nov 10.

Published in final edited form as: Hum Mutat. 2013 May; 34(5): 714–724. doi: 10.1002/humu.22294

PMCID:: PMC4226634

Abstract Article PDF–1.8M

Select item 38571599.

Homozygosity mapping in autosomal recessive retinitis pigmentosa families detects novel mutations

Béatrice Bocquet, Nour al Dain Marzouka, Maxime Hebrard, Gaël Manes, Audrey Sénéchal, Isabelle Meunier, Christian P. Hamel

Mol Vis. 2013; 19: 2487–2500. Published online 2013 Dec 8.

PMCID:: PMC3857159

Abstract Article PDF–1.3M

Select item 380849110.

Outcome of ABCA4 disease-associated alleles in autosomal recessive Retinal Dystrophies: Retrospective analysis in 420 Spanish families

Rosa Riveiro-Alvarez, Miguel-Angel Lopez-Martinez, Jana Zernant, Jana Aguirre-Lamban, Diego Cantalapiedra, Almudena Avila-Fernandez, A. Gimenez, Maria-Isabel Lopez-Molina, Blanca Garcia-Sandoval, Fiona Blanco-Kelly, Marta Corton, Sorina Tatu, Patricia Fernandez-San Jose, Maria-Jose Trujillo-Tiebas, Carmen Ramos, Rando Allikmets, Carmen Ayuso

Ophthalmology. Author manuscript; available in PMC 2014 Nov 1.

Published in final edited form as: Ophthalmology. 2013 Nov; 120(11): 10.1016/j.ophtha.2013.04.002. Published online 2013 Jun 4. doi: 10.1016/j.ophtha.2013.04.002

PMCID:: PMC3808491

Abstract Article PDF–138K

Select item 373882311.

Mutations in ARL2BP, Encoding ADP-Ribosylation-Factor-Like 2 Binding Protein, Cause Autosomal-Recessive Retinitis Pigmentosa

Alice E. Davidson, Nele Schwarz, Lina Zelinger, Gabriele Stern-Schneider, Amelia Shoemark, Benjamin Spitzbarth, Menachem Gross, Uri Laxer, Jacob Sosna, Panagiotis I. Sergouniotis, Naushin H. Waseem, Robert Wilson, Richard A. Kahn, Vincent Plagnol, Uwe Wolfrum, Eyal Banin, Alison J. Hardcastle, Michael E. Cheetham, Dror Sharon, Andrew R. Webster

Am J Hum Genet. 2013 Aug 8; 93(2): 321–329. doi: 10.1016/j.ajhg.2013.06.003

PMCID:: PMC3738823

Abstract Article PDF–1.8M

Select item 367840212.

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

Abstract Article PDF–157K

Select item 313072313.

Molecular epidemiology of Usher syndrome in Italy

Diego Vozzi, Anu Aaspõllu, Emmanouil Athanasakis, Anna Berto, Antonella Fabretto, Danilo Licastro, Maigi Külm, Francesco Testa, Patrizia Trevisi, Marju Vahter, Carmela Ziviello, Alessandro Martini, Francesca Simonelli, Sandro Banfi, Paolo Gasparini

Mol Vis. 2011; 17: 1662–1668. Published online 2011 Jun 22.

PMCID:: PMC3130723

Abstract Article PDF–594K

Select item 287723814.

Hereditary and Clinical Features of Retinitis Pigmentosa in Koreans

Sun Ho Lee, Hyeong Gon Yu, Jong Mo Seo, Sang Woong Moon, Jun Woong Moon, Sang Jin Kim, Hum Chung

J Korean Med Sci. 2010 Jun; 25(6): 918–923. Published online 2010 May 24. doi: 10.3346/jkms.2010.25.6.918

PMCID:: PMC2877238

Abstract Article PDF–147K

Select item 282339515.

A Homozygous Missense Mutation in the IRBP Gene (RBP3) Associated with Autosomal Recessive Retinitis Pigmentosa

Anneke I. den Hollander, Terri L. McGee, Carmela Ziviello, Sandro Banfi, Thaddeus P. Dryja, Federico Gonzalez-Fernandez, Debashis Ghosh, Eliot L. Berson

Invest Ophthalmol Vis Sci. Author manuscript; available in PMC 2010 Apr 1.

Published in final edited form as: Invest Ophthalmol Vis Sci. 2009 Apr; 50(4): 1864–1872. Published online 2008 Dec 13. doi: 10.1167/iovs.08-2497

PMCID:: PMC2823395

Abstract Article PDF–4.4M

Select item 277905816.

Phenotypic variation and genotype-phenotype discordance in canine cone-rod dystrophy with an RPGRIP1 mutation

Keiko Miyadera, Kumiko Kato, Jesús Aguirre-Hernández, Tsuyoshi Tokuriki, Kyohei Morimoto, Claudia Busse, Keith Barnett, Nigel Holmes, Hiroyuki Ogawa, Nobuo Sasaki, Cathryn S. Mellersh, David R. Sargan

Mol Vis. 2009; 15: 2287–2305. Published online 2009 Nov 11.

PMCID:: PMC2779058

Abstract Article PDF–3.0M

Select item 168247917.

Mapping of a gene for familial juvenile nephronophthisis: Refining the map and defining flanking markers on chromosome 2

Friedhelm Hildebrandt, Iva Singh-Sawhney, Birgit Schnieders, Linda Centofante, Heymut Omran, Andreas Pohlmann, Cornelius Schmaltz, Horst Wedekind, Christian Schubotz, Corinne Antignac, James L. Weber, Matthias Brandis

Am J Hum Genet. 1993 Dec; 53(6): 1256–1261.

PMCID:: PMC1682479

Summary Page Browse PDF–1.0M

Select item 137803918.

Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss.

C Rivolta, E A Sweklo, E L Berson, T P Dryja

Am J Hum Genet. 2000 Jun; 66(6): 1975–1978. Published online 2000 Apr 20. doi: 10.1086/302926

PMCID:: PMC1378039

Summary PDF–716K

Select item 128818719.

Genomic Structure and Identification of Novel Mutations in Usherin, the Gene Responsible for Usher Syndrome Type IIa

M. D. Weston, J. D. Eudy, S. Fujita, S.-F. Yao, S. Usami, C. Cremers, J. Greenburg, R. Ramesar, A. Martini, C. Moller, R. J. Smith, J. Sumegi, William J. Kimberling

Am J Hum Genet. 2000 Apr; 66(4): 1199–1210. Published online 2000 Mar 22. doi: 10.1086/302855

Correction in:: Am J Hum Genet, volume 66 on page 2020

PMCID:: PMC1288187

Abstract Article PDF–944K

Select item 118049220.

RP2 and RPGR Mutations and Clinical Correlations in Patients with X-Linked Retinitis Pigmentosa

Dror Sharon, Michael A. Sandberg, Vivian W. Rabe, Melissa Stillberger, Thaddeus P. Dryja, Eliot L. Berson

Am J Hum Genet. 2003 Nov; 73(5): 1131–1146. Published online 2003 Oct 16. doi: 10.1086/379379

PMCID:: PMC1180492

Abstract Article PDF–382K

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