Results 141 to 150 of about 163,801 (186)

Rod-cone dystrophy with myriad systemic manifestations. [PDF]

Oman J Ophthalmol
Patil G, Pandarasamy P, Reddy NVSK, Ganne P.   +3 more
europepmc   +1 more source

Genetics of prelingual isolated deafness and Usher syndrome in the Maghreb and Jordan: Harnessing the potential of homozygosity. [PDF]

Proc Natl Acad Sci U S A
Riahi Z, Boucher S, Abdi S, Wong Jun Tai F, Singh-Estivalet A, Aghaie A, Niasme-Grare M, Hardelin JP, Behlouli A, Dahmani M, Talbi S, Bouyacoub Y, Mkaouar R, Charfeddine C, Amalou G, Bakhchane A, Bousfiha A, Salime S, Elrharchi S, Salame M, Hadrami M, Boussaty E, Charoute H, Detsouli M, Snoussi K, Rouba H, Hachmi HE, Veten F, Meiloud G, Marrakchi J, Zainine R, Chahed H, Besbes G, Trabelsi M, Mrad R, Kraoua I, Ouhab S, Djennaoui D, Boudjenah F, Chouery E, Mustapha M, Houmeida A, Barakat A, Khodja FA, Makrelouf M, Zenati A, Beltaief N, Abdelhak S, Petit C, Bonnet C.   +49 more
europepmc   +1 more source

Clinical diagnosis of the Usher syndromes

American Journal of Medical Genetics Part A, 1994
The Usher syndromes are genetically distinct disorders which share specific phenotypic characteristics. This paper describes a set of clinical criteria recommended for the diagnosis of Usher syndrome type I and Usher syndrome type II. These criteria have
B J Keats, L Tranebjaerg
exaly   +2 more sources

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The Usher Syndromes

Seminars in Hearing, 2006
William J Kimberling
exaly   +2 more sources

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

Usher Syndromes

2014
exaly   +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

Update on Usher syndrome

Current Opinion in Neurology, 2009
The present review addresses the mechanisms, genetics and pathogenesis of Usher syndrome.Recent molecular findings have provided more information regarding the pathogenesis of this disorder and the wide phenotypic variation in both audiovestibular and/or visual systems. Evidence has begun to emerge supporting a theory of a protein interactome involving
Zubin, Saihan, Andrew R, Webster, Linda, Luxon, Maria, Bitner-Glindzicz   +3 more
openaire   +2 more sources

Ciliopathy: Usher Syndrome

2018
Ciliopathies are a group of disorders caused by a defect in ciliogenesis, ciliary protein trafficking. Because nearly every cell in the body (including the photoreceptors) contains cilia, defects in ciliary proteins typically affect multiple organ systems.
Stephen H, Tsang, Alicia R P, Aycinena, Tarun, Sharma   +2 more
openaire   +2 more sources