| 1 |
Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II.
54
61
6
|
Yan D...Liu XZ
|
19881469 |
2009 |
| 2 |
An USH2A founder mutation is the major cause of Usher syndrome type 2 in Canadians of French origin and confirms common roots of Quebecois and Acadians.
54
61
6
|
Ebermann I...Bolz HJ
|
18665195 |
2009 |
| 3 |
Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome.
54
61
6
|
Ahmed ZM...Friedman TB
|
18719945 |
2008 |
| 4 |
Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients.
54
61
6
|
Baux D...Roux AF
|
17405132 |
2007 |
| 5 |
Novel USH2A mutations in Israeli patients with retinitis pigmentosa and Usher syndrome type 2.
54
61
6
|
Kaiserman N...Sharon D
|
17296898 |
2007 |
| 6 |
Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population.
54
61
6
|
Ouyang XM...Liu XZ
|
15660226 |
2005 |
| 7 |
Mutational spectrum in Usher syndrome type II.
54
61
6
|
Ouyang XM...Liu XZ
|
15025721 |
2004 |
| 8 |
Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II.
54
61
6
|
Weston MD...Kimberling WJ
|
14740321 |
2004 |
| 9 |
The contribution of USH1C mutations to syndromic and non-syndromic deafness in the UK.
54
61
6
|
Blaydon DC...Bitner-Glindzicz M
|
12702164 |
2003 |
| 10 |
Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F.
54
61
6
|
Ahmed ZM...Wilcox ER
|
11398101 |
2001 |
| 11 |
A common ancestral origin of the frequent and widespread 2299delG USH2A mutation.
54
61
6
|
Dreyer B...Nilssen O
|
11402400 |
2001 |
| 12 |
Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D.
54
61
6
|
Bolz H...Kubisch C
|
11138009 |
2001 |
| 13 |
A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C.
54
61
6
|
Verpy E...Petit C
|
10973247 |
2000 |
| 14 |
A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene.
54
61
6
|
Bitner-Glindzicz M...Glaser B
|
10973248 |
2000 |
| 15 |
Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa.
54
61
6
|
Weston MD...Greenburg J
|
10729113 |
2000 |
| 16 |
The Usher syndrome in the Lebanese population and further refinement of the USH2A candidate region.
54
61
6
|
Saouda M...Slim R
|
9760205 |
1998 |
| 17 |
Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa.
54
61
6
|
Eudy JD...Sumegi J
|
9624053 |
1998 |
| 18 |
Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.
61
6
|
Riazuddin S...Ahmed ZM
|
23023331 |
2012 |
| 19 |
Non-USH2A mutations in USH2 patients.
61
6
|
Besnard T...Roux AF
|
22147658 |
2012 |
| 20 |
Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.
61
6
|
Le Quesne Stabej P...Bitner-Glindzicz M
|
22135276 |
2012 |
| 21 |
Usher syndrome type 2 caused by activation of an USH2A pseudoexon: implications for diagnosis and therapy.
61
6
|
Vache C...Roux AF
|
22009552 |
2012 |
| 22 |
Clinical utility gene card for: Usher syndrome.
61
6
|
Bolz HJ...Roux AF
|
21697857 |
2011 |
| 23 |
A frameshift mutation in SANS results in atypical Usher syndrome.
61
6
|
Bashir R...Naz S
|
21044053 |
2010 |
| 24 |
PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome.
61
6
|
Ebermann I...Bolz HJ
|
20440071 |
2010 |
| 25 |
Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family.
61
6
|
Hmani-Aifa M...Ayadi H
|
18854872 |
2009 |
| 26 |
A large deletion in GPR98 causes type IIC Usher syndrome in male and female members of an Iranian family.
61
6
|
Hilgert N...Van Camp G
|
19357116 |
2009 |
| 27 |
GPR98 mutations cause Usher syndrome type 2 in males.
61
6
|
Ebermann I...Bolz HJ
|
19357117 |
2009 |
| 28 |
USH1H, a novel locus for type I Usher syndrome, maps to chromosome 15q22-23.
61
6
|
Ahmed ZM...Friedman TB
|
18505454 |
2009 |
| 29 |
A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss.
61
6
|
Ebermann I...Bolz H
|
17171570 |
2007 |
| 30 |
Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%.
61
6
|
Roux AF...French Usher Syndrome Collaboration
|
16679490 |
2006 |
| 31 |
Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II.
61
6
|
van Wijk E...Kremer H
|
15015129 |
2004 |
| 32 |
A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome.
61
6
|
Ben-Yosef T...Friedman TB
|
12711741 |
2003 |
| 33 |
Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin.
61
6
|
Weil D...Petit C
|
12588794 |
2003 |
| 34 |
CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.
61
6
|
Astuto LM...Kimberling WJ
|
12075507 |
2002 |
| 35 |
USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses.
61
6
|
Adato A...Lancet D
|
12080385 |
2002 |
| 36 |
The USH1C 216G-->A mutation and the 9-repeat VNTR(t,t) allele are in complete linkage disequilibrium in the Acadian population.
61
6
|
Savas S...Keats BB
|
11810303 |
2002 |
| 37 |
Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F.
61
6
|
Alagramam KN...Hagemen GS
|
11487575 |
2001 |
| 38 |
Identification of three novel mutations in the USH1C gene and detection of thirty-one polymorphisms used for haplotype analysis.
61
6
|
Zwaenepoel I...Petit C
|
11139240 |
2001 |
| 39 |
Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23.
61
6
|
Bork JM...Morell RJ
|
11090341 |
2001 |
| 40 |
Usher Syndrome Type II
61
6
|
Lentz J...Keats B
|
20301515 |
1999 |
| 41 |
Usher Syndrome Type I
61
6
|
Lentz J...Keats BJB
|
20301442 |
1999 |
| 42 |
A novel locus for Usher syndrome type II, USH2B, maps to chromosome 3 at p23-24.2.
61
6
|
Hmani M...Ayadi H
|
10234513 |
1999 |
| 43 |
A mutation (2314delG) in the Usher syndrome type IIA gene: high prevalence and phenotypic variation.
61
6
|
Liu XZ...Brown SD
|
10090909 |
1999 |
| 44 |
Full-field electroretinography, visual acuity and visual fields in Usher syndrome: a multicentre European study.
61
42
|
Stingl K...Zrenner E
|
31267413 |
2019 |
| 45 |
A novel ABHD12 nonsense variant in Usher syndrome type 3 family with genotype-phenotype spectrum review.
61
42
|
Li T...Ling J
|
30974196 |
2019 |
| 46 |
Novel Usher syndrome pathogenic variants identified in cases with hearing and vision loss.
61
42
|
Pater JA...Young TL
|
31046701 |
2019 |
| 47 |
Novel recessive PDZD7 biallelic mutations in two Chinese families with non-syndromic hearing loss.
6
|
Guan J...Wang Q
|
29048736 |
2018 |
| 48 |
Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants.
6
|
Shearer AE...Smith RJ
|
25262649 |
2014 |
| 49 |
American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss.
6
|
Alford RL...Professional Practice and Guidelines Committee
|
24651602 |
2014 |
| 50 |
A population-based study of autosomal-recessive disease-causing mutations in a founder population.
6
|
Chong JX...Ober C
|
22981120 |
2012 |
Rare eye diseases 
