Citations (26)
Keep up to date with the latest research on this topic with citation updates for this article.
Read on this site (5)
Rosalie M. Nolen, Robert B. Hufnagel, Thomas B. Friedman, Amy E. Turriff, Carmen C. Brewer, Christopher K. Zalewski, Kelly A. King, Talah T. Wafa, Andrew J. Griffith, Brian P. Brooks & Wadih M. Zein. (2020) Atypical and ultra-rare Usher syndrome: a review. Ophthalmic Genetics 41:5, pages 401-412.
Read now
Read now
André M. Sadeghi, Edward S. Cohn, William J. Kimberling, Glenn Halvarsson & Claes Möller. (2013) Expressivity of hearing loss in cases with Usher syndrome type IIA. International Journal of Audiology 52:12, pages 832-837.
Read now
Read now
Mazal Cohen, Maria Bitner-Glindzicz & Linda Luxon. (2007) The changing face of Usher syndrome: Clinical implications. International Journal of Audiology 46:2, pages 82-93.
Read now
Read now
Ulf Rosenhall. (2006) Deaf-blindness and combined impairments of hearing and vision. Audiological Medicine 4:3, pages 109-116.
Read now
Read now
Mehdi Sadeghi, Edward S. Cohn, William J. Kimberling, Lisbeth Tranebjærg & Claes Möller. (2005) Audiological and vestibular features in affected subjects with USH3: A genotype/phenotype correlation. International Journal of Audiology 44:5, pages 307-316.
Read now
Read now
Articles from other publishers (21)
Alessandro Iannaccone, Carmen C. Brewer, Peiyao Cheng, Jacque L. Duncan, Maureen G. Maguire, Isabelle Audo, Allison R. Ayala, Paul S. Bernstein, Gavin M. Bidelman, Janet K. Cheetham, Richard L. Doty, Todd A. Durham, Robert B. Hufnagel, Mark H. Myers, Katarina Stingl & Wadih M. Zein. (2021)
Auditory and olfactory findings in patients with
USH2A
‐related retinal degeneration—Findings at baseline from the rate of progression in
USH2A
‐related retinal degeneration natural history study (
RUSH2A
)
. American Journal of Medical Genetics Part A 185:12, pages 3717-3727.
Crossref
Crossref
Lucia Ambrosio, Ronald M. Hansen, Anne Moskowitz, Andrea Oza, Devon Barrett, Juliana Manganella, Genevieve Medina, Kosuke Kawai, Anne B. Fulton & Margaret Kenna. (2021) Dark-adapted threshold and electroretinogram for diagnosis of Usher syndrome. Documenta Ophthalmologica 143:1, pages 39-51.
Crossref
Crossref
Xiang Meng, XiaoZhen Liu, YingYing Li, Tong Guo & Liping Yang. (2020)
Correlation between Genotype and Phenotype in 69 Chinese Patients with
USH2A
Mutations: A comparative study of the patients with Usher Syndrome and Nonsyndromic Retinitis Pigmentosa
. Acta Ophthalmologica 99:4.
Crossref
Crossref
Christine Mei, Hongsong Dong, Eric Nisenbaum, Torin Thielhelm, Aida Nourbakhsh, Denise Yan, Molly Smeal, Yesha Lundberg, Michael E. Hoffer, Simon Angeli, Fred Telischi, Guohui Nie, Susan H. Blanton & Xuezhong Liu. (2021) Genetics and the Individualized Therapy of Vestibular Disorders. Frontiers in Neurology 12.
Crossref
Crossref
Meg Whatley, Abbie Francis, Zi Ying Ng, Xin Ee Khoh, Marcus D. Atlas, Rodney J. Dilley & Elaine Y. M. Wong. (2020) Usher Syndrome: Genetics and Molecular Links of Hearing Loss and Directions for Therapy. Frontiers in Genetics 11.
Crossref
Crossref
Geetha Nair, Ruchima Dham, Arpana Sekhar, Raghunandhan Sampath Kumar & Mohan Kameswaran. (2019) Cochlear Implantation in Children with Usher’s Syndrome: A South Asian Experience. Indian Journal of Otolaryngology and Head & Neck Surgery 72:1, pages 140-144.
Crossref
Crossref
Maria Toms, Waheeda Pagarkar & Mariya Moosajee. (2020) Usher syndrome: clinical features, molecular genetics and advancing therapeutics. Therapeutic Advances in Ophthalmology 12, pages 251584142095219.
Crossref
Crossref
Sarwar Zahid, Kari Branham, Dana Schlegel, Mark E. Pennesi, Michel Michaelides, John Heckenlively & Thiran JayasunderaSarwar Zahid, Kari Branham, Dana Schlegel, Mark E. Pennesi, Michel Michaelides, John Heckenlively & Thiran Jayasundera. 2018. Retinal Dystrophy Gene Atlas. Retinal Dystrophy Gene Atlas
269
271
.
Michelle Evans. (2017) Empowering People Experiencing Usher Syndrome as Participants in Research. The British Journal of Social Work 47:8, pages 2328-2345.
Crossref
Crossref
Giuseppe Magliulo, Giannicola Iannella, Silvia Gagliardi, Nicola Iozzo, Rocco Plateroti, Alessandro Mariottini & Francesca Torricelli. (2017) Usher’s Syndrome Type II: A Comparative Study of Genetic Mutations and Vestibular System Evaluation. Otolaryngology–Head and Neck Surgery 157:5, pages 853-860.
Crossref
Crossref
Bas P. Hartel, Maria Löfgren, Patrick L.M. Huygen, Iris Guchelaar, Nicole Lo-A-Njoe Kort, Andre M. Sadeghi, Erwin van Wijk, Lisbeth Tranebjærg, Hannie Kremer, William J. Kimberling, Cor W.R.J. Cremers, Claes Möller & Ronald J.E. Pennings. (2016) A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa. Hearing Research 339, pages 60-68.
Crossref
Crossref
Giuseppe Magliulo, Giannicola Iannella, Silvia Gagliardi, Nicola Iozzo, Rocco Plateroti, Pasquale Plateroti, Massimo Re & Enzo Maria Vingolo. (2015) Usher’s Syndrome. Otology & Neurotology 36:8, pages 1421-1427.
Crossref
Crossref
Asuman Koparir, Omer Faruk Karatas, Ali Timucin Atayoglu, Bayram Yuksel, Mahmut Samil Sagiroglu, Mehmet Seven, Hakan Ulucan, Adnan Yuksel & Mustafa Ozen. (2015) Whole-exome sequencing revealed two novel mutations in Usher syndrome. Gene 563:2, pages 215-218.
Crossref
Crossref
Giuseppe Magliulo, Giannicola Iannella, Silvia Gagliardi, Rocco Plateroti, Pasquale Plateroti, Nicola Iozzo & Enzo Maria Vingolo. (2015) Retinitis Pigmentosa. Otology & Neurotology 36:2, pages 273-276.
Crossref
Crossref
Sung Hyun BooMin-Jung SongHee-Jin KimYang-Sun ChoHosuk ChuMoon-Hee KoWon-Ho ChungJong-Won KimSung Hwa Hong. (2013)
A Novel Frameshift Mutation of the
USH2A
Gene in a Korean Patient with Usher Syndrome Type II
. Clinical and Experimental Otorhinolaryngology 6:1, pages 41.
Crossref
Crossref
C Abadie, C Blanchet, D Baux, L Larrieu, T Besnard, P Ravel, R Biboulet, C Hamel, S Malcolm, M Mondain, M Claustres & A‐F Roux. (2011) Audiological findings in 100 USH2 patients. Clinical Genetics 82:5, pages 433-438.
Crossref
Crossref
Josara Wallber. (2009) Audiologists’ Role in Early Diagnosis of Usher Syndrome. The ASHA Leader 14:16, pages 5-6.
Crossref
Crossref
H Nakanishi, M Ohtsubo, S Iwasaki, Y Hotta, K Mizuta, H Mineta & S Minoshima. (2009)
Identification of 11 novel mutations in
USH2A
among Japanese patients with Usher syndrome type 2
. Clinical Genetics 76:4, pages 383-391.
Crossref
Crossref
Inga Ebermann, Hendrik P. N. Scholl, Peter Charbel Issa, Elvir Becirovic, Jürgen Lamprecht, Bernhard Jurklies, José M. Millán, Elena Aller, Diana Mitter & Hanno Bolz. (2006) A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss. Human Genetics 121:2, pages 203-211.
Crossref
Crossref
André M. Sadeghi, Kristina Eriksson, William J. Kimberling, Anders Sjöström & Claes Möller. (2006) Longterm visual prognosis in Usher syndrome types 1 and 2. Acta Ophthalmologica Scandinavica 84:4, pages 537-544.
Crossref
Crossref
S Bernal, C Medà, T Solans, C Ayuso, B Garcia-Sandoval, D Valverde, E Del Rio & M Baiget. (2005) Clinical and genetic studies in Spanish patients with Usher syndrome type II: description of new mutations and evidence for a lack of genotype-phenotype correlation. Clinical Genetics 68:3, pages 204-214.
Crossref
Crossref