U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from MedGen

Items: 1 to 20 of 503

1.
Elongation Factor 1 alpha1 and Genes Associated with Usher Syndromes Are Downstream Targets of GBX2
David A. Roeseler, Shrikesh Sachdev, Desire M. Buckley, Trupti Joshi, Doris K. Wu, Dong Xu, Mark Hannink, Samuel T. Waters
PLoS One. 2012; 7(11): e47366. Published online 2012 Nov 8. doi: 10.1371/journal.pone.0047366
PMCID:
PMC3493575
AbstractArticlePDF–2.5M
2.
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
AbstractArticlePDF–1.1M
3.
Next Generation Sequencing Identifies Five Novel Mutations in Lebanese Patients with Bardet–Biedl and Usher Syndromes
Lama Jaffal, Wissam H Joumaa, Alexandre Assi, Charles Helou, George Cherfan, Kazem Zibara, Isabelle Audo, Christina Zeitz, Said El Shamieh
Genes (Basel) 2019 Dec; 10(12): 1047. Published online 2019 Dec 16. doi: 10.3390/genes10121047
PMCID:
PMC6947157
AbstractArticlePDF–2.9M
4.
Psychosocial well-being and health-related quality of life in a UK population with Usher syndrome
Gavin Dean, Amy Orford, Roy Staines, Anna McGee, Kimberley J Smith
BMJ Open. 2017; 7(1): e013261. Published online 2017 Jan 12. doi: 10.1136/bmjopen-2016-013261
PMCID:
PMC5253575
AbstractArticlePDF–827K
5.
Partial USH2A deletions contribute to Usher syndrome in Denmark
Shzeena Dad, Nanna D Rendtorff, Erik Kann, Anders Albrechtsen, Mana M Mehrjouy, Mads Bak, Niels Tommerup, Lisbeth Tranebjærg, Thomas Rosenberg, Hanne Jensen, Lisbeth B Møller
Eur J Hum Genet. 2015 Dec; 23(12): 1646–1651. Published online 2015 Mar 25. doi: 10.1038/ejhg.2015.54
Correction in:
Eur J Hum Genet. 2015 Dec; 23(12): 1750.
PMCID:
PMC4795208
AbstractArticlePDF–1.2M
6.
Mariage consanguin et morbi-mortalité, courte revue de la littérature à partir d'une association exceptionnelle: syndrome de Usher et Neurofibromatose de Von Recklinghausen
Pépin-Williams Atipo-Tsiba
Pan Afr Med J. 2016; 23: 99. French. Publication en ligne 2016 mars 15. DOI : 10.11604/pamj.2016.23.99.9025
PMCID:
PMC4867733
AbstractArticlePDF–359K
7.
Frequency of Usher syndrome type 1 in deaf children by massively parallel DNA sequencing
Hidekane Yoshimura, Maiko Miyagawa, Kozo Kumakawa, Shin-ya Nishio, Shin-ichi Usami
J Hum Genet. 2016 May; 61(5): 419–422. Published online 2016 Jan 21. doi: 10.1038/jhg.2015.168
PMCID:
PMC4893503
AbstractArticlePDF–330K
8.
Genetic analysis of Tunisian families with Usher syndrome type 1: toward improving early molecular diagnosis
Imen Ben-Rebeh, Mhamed Grati, Crystel Bonnet, Walid Bouassida, Imen Hadjamor, Hammadi Ayadi, Abdelmonem Ghorbel, Christine Petit, Saber Masmoudi
Mol Vis. 2016; 22: 827–835. Published online 2016 Jul 19.
PMCID:
PMC4950652
AbstractArticlePDF–949K
9.
The E3 ligase Ubr3 regulates Usher syndrome and MYH9 disorder proteins in the auditory organs of Drosophila and mammals
Tongchao Li, Nikolaos Giagtzoglou, Daniel F Eberl, Sonal Nagarkar Jaiswal, Tiantian Cai, Dorothea Godt, Andrew K Groves, Hugo J Bellen
eLife. 2016; 5: e15258. Published online 2016 Jun 22. doi: 10.7554/eLife.15258
PMCID:
PMC4978524
AbstractArticlePDF–7.5M
10.
Diversity of the Genes Implicated in Algerian Patients Affected by Usher Syndrome
Samia Abdi, Amel Bahloul, Asma Behlouli, Jean-Pierre Hardelin, Mohamed Makrelouf, Kamel Boudjelida, Malek Louha, Ahmed Cheknene, Rachid Belouni, Yahia Rous, Zahida Merad, Djamel Selmane, Mokhtar Hasbelaoui, Crystel Bonnet, Akila Zenati, Christine Petit
PLoS One. 2016; 11(9): e0161893. Published online 2016 Sep 1. doi: 10.1371/journal.pone.0161893
PMCID:
PMC5008642
AbstractArticlePDF–1.7M
11.
Usher syndrome in Denmark: mutation spectrum and some clinical observations
Shzeena Dad, Nanna Dahl Rendtorff, Lisbeth Tranebjærg, Karen Grønskov, Helena Gásdal Karstensen, Vigdis Brox, Øivind Nilssen, Anne‐Françoise Roux, Thomas Rosenberg, Hanne Jensen, Lisbeth Birk Møller
Mol Genet Genomic Med. 2016 Sep; 4(5): 527–539. Published online 2016 Jun 28. doi: 10.1002/mgg3.228
PMCID:
PMC5023938
AbstractArticlePDF–303K
12.
Assessing Photoreceptor Structure in Retinitis Pigmentosa and Usher Syndrome
Lynn W. Sun, Ryan D. Johnson, Christopher S. Langlo, Robert F. Cooper, Moataz M. Razeen, Madia C. Russillo, Alfredo Dubra, Thomas B. Connor, Jr, Dennis P. Han, Mark E. Pennesi, Christine N. Kay, David V. Weinberg, Kimberly E. Stepien, Joseph Carroll
Invest Ophthalmol Vis Sci. 2016 May; 57(6): 2428–2442. Published online 2016 May 4. doi: 10.1167/iovs.15-18246
PMCID:
PMC5089122
AbstractArticlePDF–1.4M
13.
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
AbstractArticlePDF–2.0M
14.
Delayed diagnosis of a patient with Usher syndrome 1C in a Louisiana Acadian family highlights the necessity of timely genetic testing for the diagnosis and management of congenital hearing loss
Ayesha Umrigar, Amanda Musso, Danielle Mercer, Annette Hurley, Cassondra Glausier, Mona Bakeer, Michael Marble, Chindo Hicks, Fern Tsien
SAGE Open Med Case Rep. 2017; 5: 2050313X17745904. Published online 2017 Dec 11. doi: 10.1177/2050313X17745904
PMCID:
PMC5734434
AbstractArticlePDF–411K
15.
Gene Therapy Restores Auditory and Vestibular Function in a Mouse Model of Usher Syndrome Type 1c
Bifeng Pan, Charles Askew, Alice Galvin, Selena Heman-Ackah, Yukako Asai, Artur A. Indzhykulian, Francine M. Jodelka, Michelle L. Hastings, Jennifer J. Lentz, Luk H. Vandenberghe, Jeffrey R. Holt, Gwenaëlle G.S. Géléoc
Nat Biotechnol. Author manuscript; available in PMC 2017 Aug 6.
Published in final edited form as: Nat Biotechnol. 2017 Mar; 35(3): 264–272. Published online 2017 Feb 6. doi: 10.1038/nbt.3801
PMCID:
PMC5340578
AbstractArticlePDF–2.7M
16.
Outcomes of Late Implantation in Usher Syndrome Patients
Ana Cristina H. Hoshino, Agustina Echegoyen, Maria Valéria Schmidt Goffi-Gomez, Robinson Koji Tsuji, Ricardo Ferreira Bento
Int Arch Otorhinolaryngol. 2017 Apr; 21(2): 140–143. Published online 2016 May 4. doi: 10.1055/s-0036-1583306
PMCID:
PMC5375700
AbstractArticlePDF–136K
17.
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
AbstractArticlePDF–2.7M
18.
Usher syndrome type 1–associated cadherins shape the photoreceptor outer segment
Cataldo Schietroma, Karine Parain, Amrit Estivalet, Asadollah Aghaie, Jacques Boutet de Monvel, Serge Picaud, José-Alain Sahel, Muriel Perron, Aziz El-Amraoui, Christine Petit
J Cell Biol. 2017 Jun 5; 216(6): 1849–1864. doi: 10.1083/jcb.201612030
PMCID:
PMC5461027
AbstractArticlePDF–3.9M
19.
Hearing aid fitting for visual and hearing impaired patients with Usher syndrome type IIa
B.P. Hartel, M.J.H. Agterberg, A.F. Snik, H.P.M. Kunst, A.J. van Opstal, A.J. Bosman, R.J.E. Pennings
Clin Otolaryngol. 2017 Aug; 42(4): 805–814. Published online 2016 Nov 6. doi: 10.1111/coa.12775
PMCID:
PMC5516239
AbstractArticlePDF–492K
20.
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
AbstractArticlePDF–3.6M

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Filter your results:

Find related data

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
You are here: NCBI > Literature > PubMed Central (PMC)
Support Center