1 |
Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II.
6
54
61
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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.
6
61
54
|
Ebermann I...Bolz HJ
|
18665195 |
2009 |
3 |
Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome.
6
61
54
|
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.
61
54
6
|
Baux D...Roux AF
|
17405132 |
2007 |
5 |
Novel USH2A mutations in Israeli patients with retinitis pigmentosa and Usher syndrome type 2.
6
54
61
|
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.
61
54
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.
61
54
6
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Weston MD...Kimberling WJ
|
14740321 |
2004 |
9 |
The contribution of USH1C mutations to syndromic and non-syndromic deafness in the UK.
6
61
54
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Blaydon DC...Bitner-Glindzicz M
|
12702164 |
2003 |
10 |
Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F.
61
54
6
|
Ahmed ZM...Wilcox ER
|
11398101 |
2001 |
11 |
A common ancestral origin of the frequent and widespread 2299delG USH2A mutation.
54
61
6
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Dreyer B...Nilssen O
|
11402400 |
2001 |
12 |
Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D.
6
54
61
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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
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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
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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
6
61
|
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
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Saouda M...Slim R
|
9760205 |
1998 |
17 |
Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa.
61
6
54
|
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.
6
61
|
Riazuddin S...Ahmed ZM
|
23023331 |
2012 |
19 |
Non-USH2A mutations in USH2 patients.
6
61
|
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
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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.
6
61
|
Hilgert N...Van Camp G
|
19357116 |
2009 |
27 |
GPR98 mutations cause Usher syndrome type 2 in males.
6
61
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Ebermann I...Bolz HJ
|
19357117 |
2009 |
28 |
USH1H, a novel locus for type I Usher syndrome, maps to chromosome 15q22-23.
6
61
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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.
6
61
|
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%.
6
61
|
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.
6
61
|
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.
6
61
|
Astuto LM...Kimberling WJ
|
12075507 |
2002 |
35 |
USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses.
6
61
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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.
6
61
|
Savas S...Keats BB
|
11810303 |
2002 |
37 |
Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F.
6
61
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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.
6
61
|
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.
6
61
|
Bork JM...Morell RJ
|
11090341 |
2001 |
40 |
Usher Syndrome Type II
6
61
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Lentz J...Keats B
|
20301515 |
1999 |
41 |
Usher Syndrome Type I
6
61
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Koenekoop RK...Lentz JJ
|
20301442 |
1999 |
42 |
A novel locus for Usher syndrome type II, USH2B, maps to chromosome 3 at p23-24.2.
6
61
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Hmani M...Ayadi H
|
10234513 |
1999 |
43 |
A mutation (2314delG) in the Usher syndrome type IIA gene: high prevalence and phenotypic variation.
6
61
|
Liu XZ...Brown SD
|
10090909 |
1999 |
44 |
Next Generation Sequencing Identifies Five Novel Mutations in Lebanese Patients with Bardet-Biedl and Usher Syndromes.
61
42
|
Jaffal L...El Shamieh S
|
31888296 |
2019 |
45 |
Ataluren for the Treatment of Usher Syndrome 2A Caused by Nonsense Mutations.
61
42
|
Samanta A...Nagel-Wolfrum K
|
31842393 |
2019 |
46 |
In Vivo Assessment of Potential Therapeutic Approaches for USH2A-Associated Diseases.
61
42
|
Pendse ND...Liu Q
|
31884594 |
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
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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 |