PMC Articles for MedGen (Select 419359) - PMC

Select item 59965301.

A novel homozygous variant of GPR98 causes usher syndrome type IIC in a consanguineous Chinese family by next generation sequencing

Chunli Wei, Lisha Yang, Jingliang Cheng, Saber Imani, Shangyi Fu, Hongbin Lv, Yumei Li, Rui Chen, Elaine Lai-Han Leung, Junjiang Fu

BMC Med Genet. 2018; 19: 99. Published online 2018 Jun 11. doi: 10.1186/s12881-018-0602-0

PMCID:: PMC5996530

Abstract Article PDF–1006K

Select item 90350002.

Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment

Paulina Bahena, Narsis Daftarian, Reza Maroofian, Paola Linares, Daniel Villalobos, Mehraban Mirrahimi, Aboulfazl Rad, Julia Doll, Michaela A. H. Hofrichter, Asuman Koparir, Tabea Röder, Seungbin Han, Hamideh Sabbaghi, Hamid Ahmadieh, Hassan Behboudi, Cristina Villanueva-Mendoza, Vianney Cortés-Gonzalez, Rocio Zamora-Ortiz, Susanne Kohl, Laura Kuehlewein, Hossein Darvish, Elham Alehabib, Maria de la Luz Arenas-Sordo, Fatemeh Suri, Barbara Vona, Thomas Haaf

Hum Genet. 2022; 141(3-4): 785–803. Published online 2021 Jun 20. doi: 10.1007/s00439-021-02303-1

PMCID:: PMC9035000

Abstract Article PDF–1.9M

Select item 44324783.

A large deletion in GPR98 causes type IIC Usher syndrome in male and female patients of an Iranian family

Nele Hilgert, Kimia Kahrizi, Hossein Najmabadi, Nele Dieltjens, Niloofar Bazazzadegan, Richard JH Smith, Guy Van Camp

J Med Genet. Author manuscript; available in PMC 2015 May 15.

Published in final edited form as: J Med Genet. 2009 Apr; 46(4): 272–276. doi: 10.1136/jmg.2008.060947

PMCID:: PMC4432478

Abstract Article PDF–449K

Select item 29862094.

Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family

Mounira Hmani-Aifa, Zeineb Benzina, Fareeha Zulfiqar, Houria Dhouib, Amber Shahzadi, Abdelmonem Ghorbel, Ahmed Rebaï, Peter Söderkvist, Sheikh Riazuddin, William J Kimberling, Hammadi Ayadi

Eur J Hum Genet. 2009 Apr; 17(4): 474–482. Published online 2008 Oct 15. doi: 10.1038/ejhg.2008.167

PMCID:: PMC2986209

Abstract Article PDF–276K

Select item 28779305.

PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome

Inga Ebermann, Jennifer B. Phillips, Max C. Liebau, Robert K. Koenekoop, Bernhard Schermer, Irma Lopez, Ellen Schäfer, Anne-Francoise Roux, Claudia Dafinger, Antje Bernd, Eberhart Zrenner, Mireille Claustres, Bernardo Blanco, Gudrun Nürnberg, Peter Nürnberg, Rebecca Ruland, Monte Westerfield, Thomas Benzing, Hanno J. Bolz

J Clin Invest. 2010 Jun 1; 120(6): 1812–1823. Published online 2010 May 3. doi: 10.1172/JCI39715

PMCID:: PMC2877930

Abstract Article PDF–3.3M

Select item 27338156.

Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism

Samuel G. Jacobson, Artur V. Cideciyan, Tomas S. Aleman, Alexander Sumaroka, Alejandro J. Roman, Leigh M. Gardner, Haydn M. Prosser, Monalisa Mishra, N. Torben Bech-Hansen, Waldo Herrera, Sharon B. Schwartz, Xue-Zhong Liu, William J. Kimberling, Karen P. Steel, David S. Williams

Hum Mol Genet. 2008 Aug 1; 17(15): 2405–2415. Published online 2008 May 7. doi: 10.1093/hmg/ddn140

PMCID:: PMC2733815

Abstract Article PDF–1.1M

Select item 11819337.

Mutations in the VLGR1 Gene Implicate G-Protein Signaling in the Pathogenesis of Usher Syndrome Type II

Michael D. Weston, Mirjam W. J. Luijendijk, Kurt D. Humphrey, Claes Möller, William J. Kimberling

Am J Hum Genet. 2004 Feb; 74(2): 357–366. Published online 2004 Jan 20. doi: 10.1086/381685

Correction in:: Am J Hum Genet. 2004 May; 74(5): 1080.

PMCID:: PMC1181933

Abstract Article PDF–556K

Select item 96999278.

A rare presentation of Carnitine palmitoyltransferase II (CPT-2) deficiency with normal acylcarnitine profile in a 10-year-old boy with muscle weakness and bilateral hearing loss; a case report

Mohammad VAFAEE SHAHI, Saeide GHASEMI, Leila TAHERNIA, Aina RIAHI

Iran J Child Neurol. 2022 Autumn; 16(4): 65–74. Published online 2022 Oct 23. doi: 10.22037/ijcn.v17i1.27609

PMCID:: PMC9699927

Abstract Article PDF–235K

Select item 30179489.

An Update on the Genetics of Usher Syndrome

José M. Millán, Elena Aller, Teresa Jaijo, Fiona Blanco-Kelly, Ascensión Gimenez-Pardo, Carmen Ayuso

J Ophthalmol. 2011; 2011: 417217. Published online 2010 Dec 23. doi: 10.1155/2011/417217

PMCID:: PMC3017948

Abstract Article PDF–718K

Select item 268255510.

The Very Large G-Protein-Coupled Receptor VLGR1: A Component of the Ankle Link Complex Required for the Normal Development of Auditory Hair Bundles

JoAnn McGee, Richard J. Goodyear, D. Randy McMillan, Eric A. Stauffer, Jeffrey R. Holt, Kirsten G. Locke, David G. Birch, P. Kevin Legan, Perrin C. White, Edward J. Walsh, Guy P. Richardson

J Neurosci. 2006 Jun 14; 26(24): 6543–6553. doi: 10.1523/JNEUROSCI.0693-06.2006

PMCID:: PMC2682555

Abstract Article PDF–728K

Select item 285529411.

The Mass1^frings mutation underlies early onset hearing impairment in BUB/BnJ mice, a model for the auditory pathology of Usher syndrome IIC

K.R. Johnson, Q.Y. Zheng, M.D. Weston, L.J. Ptacek, K. Noben-Trauth

Genomics. Author manuscript; available in PMC 2010 Apr 15.

Published in final edited form as: Genomics. 2005 May; 85(5): 582–590. doi: 10.1016/j.ygeno.2005.02.006

PMCID:: PMC2855294

Abstract Article PDF–640K

Select item 105072912.

Genetic heterogeneity of Usher syndrome type II in a Dutch population.

S Pieke-Dahl, A van Aarem, A Dobin, C W Cremers, W J Kimberling

J Med Genet. 1996 Sep; 33(9): 753–757. doi: 10.1136/jmg.33.9.753

PMCID:: PMC1050729

Summary Page Browse PDF–1008K

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