Results 161 to 170 of about 33,870 (219)

Expanding the genetic landscape of Usher syndrome type IV caused by pathogenic ARSG variants. [PDF]

Clin Genet
Bauwens M, De Man V, Audo I, Balikova I, Zein WM, Smirnov V, Held S, Vermeer S, Loos E, Jacob J, Casteels I, Désir J, Depasse F, Van de Sompele S, Van Heetvelde M, De Bruyne M, Andrieu C, Condroyer C, Antonio A, Hufnagel R, Carvalho AL, Marques JP, Zeitz C, De Baere E, Damme M.   +24 more
europepmc   +1 more source

PCDH15 dual-AAV gene therapy for deafness and blindness in Usher syndrome type 1F models. [PDF]

J Clin Invest
Ivanchenko MV, Hathaway DM, Mulhall EM, Booth KT, Wang M, Peters CW, Klein AJ, Chen X, Li Y, György B, Corey DP.   +10 more
europepmc   +1 more source

CDH23-Associated Usher Syndrome: Clinical Features, Retinal Imaging, and Natural History. [PDF]

Invest Ophthalmol Vis Sci
de Guimaraes TAC, Robson AG, de Guimaraes IMC, Laich Y, Aychoua N, Wright G, Kalitzeos A, Mahroo OA, Webster AR, Michaelides M.   +9 more
europepmc   +1 more source

Outcomes of cochlear implantation in Usher syndrome: a systematic review. [PDF]

Eur Arch Otorhinolaryngol
Cornwall HL, Lam CM, Chaudhry D, Muzaffar J, Monksfield P, Bance ML.   +5 more
europepmc   +1 more source

A large-scale screening identified in USH2A gene the P3272L founder pathogenic variant explaining familial Usher syndrome in Sardinia, Italy. [PDF]

BMC Ophthalmol
Serra R, Rallo V, Steri M, Olla S, Piras MG, Marongiu M, Gorospe M, Schlessinger D, Pinna A, Fiorillo E, Cucca F, Angius A.   +11 more
europepmc   +1 more source

Correction to: Exploring the support needs of Australian parents of young children with Usher syndrome: a qualitative thematic analysis. [PDF]

Orphanet J Rare Dis
Johansen L, O'Hare F, Shepard ER, Ayton LN, Pelentsov LJ, Kearns LS, Galvin KL.   +6 more
europepmc   +1 more source

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Usher's syndrome

Ophthalmic Paediatrics and Genetics, 1990
Usher's syndrome is an autosomal recessive condition of congenital sensorineural hearing loss and retinitis pigmentosa. Other abnormalities are present but inconsistently, suggesting the genetic concepts of pleiotropy and heterogeneity. Accordingly, several classifications have been suggested.
S, Samuelson, J, Zahn
openaire   +2 more sources

The Usher syndromes

American Journal of Medical Genetics, 1999
Mutations in the gene (MYO7A) encoding myosin-VIIa, a member of the large superfamily of myosin motor proteins that move on cytoplasmic actin filaments, and in the USH2A gene, which encodes a novel protein resembling an extracellular matrix protein or a cell adhesion molecule, both cause Usher syndrome (USH), a clinically heterogeneous autosomal ...
B J, Keats, D P, Corey
openaire   +2 more sources