- ►uni-mainz.de [PDF] C Petit - Annual Review of Genomics and Human Genetics, 2001 - Annual Reviews ▪ Abstract Usher syndrome (USH) is defined by the association of sensorineural
deafness and visual impairment due to retinitis pigmentosa. The syndrome has
three distinct clinical subtypes, referred to as USH1, USH2, and USH3. Each ... Cited by 95 - Related articles - All 4 versions
ZM Ahmeda, S Riazuddinb, S Riazuddina, ER … - Clin Genet, 2003 - ontogenez.narod.ru ZM Ahmeda,b, S Riazuddinb, S Riazuddina and ER Wilcoxa,b aNational Center of
Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan;
bLaboratory of Molecular Genetics, Section on Human Genetics, National ... Cited by 87 - Related articles - View as HTML - BL Direct - All 5 versions
BJB Keats, DP Corey - American journal of medical genetics, 1999 - interscience.wiley.com Dr. Bronya JB Keats is a professor of genetics and the director of the Molecular
and Human Genetics Center at Louisiana State University Health Sciences Center.
Her research interests include the identification and characterization of ... Cited by 67 - Related articles - All 3 versions
- ►uni-mainz.de [PDF] J Reiners, K Nagel-Wolfrum, K Jürgens, T … - Experimental eye research, 2006 - Elsevier Usher syndrome (USH) is the most frequent cause of combined deaf-blindness in
man. It is clinically and genetically heterogeneous and at least 12 chromosomal
loci are assigned to three clinical USH types, namely USH1A-G, USH2A-C, ... Cited by 56 - Related articles - All 5 versions
- ►nih.gov E van Wijk, RJE Pennings, H te Brinke, A … - The American Journal of Human Genetics, 2004 - Elsevier The USH2A gene is mutated in patients with Usher syndrome type IIa, which is the
most common subtype of Usher syndrome and is characterized by hearing loss and
retinitis pigmentosa. Since mutation analysis by DNA sequencing of exons ... Cited by 42 - Related articles - BL Direct - All 12 versions
- ►nih.gov [PDF] XZ Liu, C Hope, CY Liang, JM Zou, LR Xu, T … - The American Journal of Human Genetics, 1999 - Elsevier Usher syndrome (USH), an autosomal recessive condition, is characterized by
hearing impairment associated with retinitis pigmentosa (RP). It is a clinically
and genetically heterogeneous condition. Three clinical forms of USH have ... Cited by 39 - Related articles - BL Direct - All 7 versions
UH Spandau, K Rohrschneider - Graefe's Archive for Clinical and Experimental …, 2002 - Springer Abstract Purpose: To estimate the prevalence of Usher syndrome in Heidelberg and
Mannheim and to map its geographical distribution in Germany. Methods: Usher
syndrome patients were ascertained through the databases of the Low Vision ... Cited by 37 - Related articles - BL Direct - All 4 versions
I Ebermann, HPN Scholl, P Charbel Issa, E … - Human genetics, 2007 - Springer Abstract Usher syndrome is an autosomal recessive condition characterized by
sensorineural hearing loss, variable vestibular dysfunction, and visual
impairment due to retinitis pigmentosa (RP). The seven proteins that have ... Cited by 37 - Related articles - All 5 versions
M Haim - Acta ophthalmologica Scandinavica. Supplement, 2002 - be-md.ncbi.nlm.nih.gov A nation-wide registration of Danish cases of retinitis pigmentosa (RP) provided
1890 persons diagnosed during the period 1850-1989. Prevalent at 1 January 1988
were 1301 persons (1:3943) comprising a multitude of different RP-types. ... Cited by 35 - Related articles - BL Direct - All 3 versions
BP Leroy, JA Aragon-Martin, MD Weston, DAR … - Experimental eye research, 2001 - Elsevier Usher syndrome (USH) is a combination of a progressive pigmentary retinopathy,
indistinguishable from retinitis pigmentosa, and some degree of sensorineural
hearing loss. USH can be subdivided in Usher type I (USHI), type II (USHII) ... Cited by 26 - Related articles - BL Direct - All 7 versions
