相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。The USH2A c. 2299delG mutation: dating its common origin in a Southern European population
Elena Aller et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2010)
PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome
Inga Ebermann et al.
JOURNAL OF CLINICAL INVESTIGATION (2010)
Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa
Terri L. McGee et al.
JOURNAL OF MEDICAL GENETICS (2010)
Identification of Large Rearrangements of the PCDH15 Gene by Combined MLPA and a CGH: Large Duplications Are Responsible for Usher Syndrome
Elena Aller et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2010)
Microarray-Based Mutation Analysis of 183 Spanish Families with Usher Syndrome
Teresa Jaijo et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2010)
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
Inga Ebermann et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2009)
Mutation profile of theCDH23 gene in 56 probands with Usher syndrome type I
A. Oshima et al.
HUMAN MUTATION (2008)
A novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cells
Tina Maerker et al.
HUMAN MOLECULAR GENETICS (2008)
Cadherin 23 and protocadherin 15 interact to form tip-link filaments in sensory hair cells
Piotr Kazmierczak et al.
NATURE (2007)
Molecular and in sillico analyses of the full-length isoform of usherlin identify new pathogenic alleles in usher type II patients
David Baux et al.
HUMAN MUTATION (2007)
A novel gene for Usher syndrome type 2:: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss
Inga Ebermann et al.
HUMAN GENETICS (2007)
Usherin is required for maintenance of retinal photoreceptors and normal development of cochlear hair cells
Xiaoqing Liu et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)
Development of a genotyping microarray for Usher syndrome
Frans P. M. Cremers et al.
JOURNAL OF MEDICAL GENETICS (2007)
Screening of the USH1G gene among Spanish patients with usher syndrome.: Lack of mutations and evidence of a minor role in the pathogenesis of the syndrome
Elena Aller et al.
OPHTHALMIC GENETICS (2007)
Deafblindness in French Canadians from Quebec: a predominant founder mutation in the USH1C gene provides the first genetic link with the Acadian population
Inga Ebermann et al.
GENOME BIOLOGY (2007)
Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II
E. Aller et al.
JOURNAL OF MEDICAL GENETICS (2006)
Usher syndrome:: molecular links of pathogenesis, proteins and pathways
Hannie Kremer et al.
HUMAN MOLECULAR GENETICS (2006)
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%
A-F Roux et al.
JOURNAL OF MEDICAL GENETICS (2006)
Molecular basis of human Usher syndrome:: Deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease
Jan Reiners et al.
EXPERIMENTAL EYE RESEARCH (2006)
The very large G-protein-coupled receptor Vlgr1: A component of the ankle link complex required for the normal development of auditory hair bundles
JoAnn McGee et al.
JOURNAL OF NEUROSCIENCE (2006)
The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1
E van Wijk et al.
HUMAN MOLECULAR GENETICS (2006)
Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2
J Reiners et al.
HUMAN MOLECULAR GENETICS (2005)
Usherin, the defective protein in Usher syndrome type IIA, is likely to be a component of interstereocilia ankle links in the inner ear sensory cells
A Adato et al.
HUMAN MOLECULAR GENETICS (2005)
Usher I syndrome: unravelling the mechanisms that underlie the cohesion of the growing hair bundle in inner ear sensory cells
A El-Amraoui et al.
JOURNAL OF CELL SCIENCE (2005)
Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population
XM Ouyang et al.
HUMAN GENETICS (2005)
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
E van Wijk et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2004)
Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II
MD Weston et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2004)
Mutation screening of USH3 gene (clarin-1) in Spanish patients with Usher syndrome:: low prevalence and phenotypic variability
E Aller et al.
CLINICAL GENETICS (2004)
Genetic insights into the morphogenesis of inner ear hair cells
GI Frolenkov et al.
NATURE REVIEWS GENETICS (2004)
Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III
SL Ness et al.
JOURNAL OF MEDICAL GENETICS (2003)
Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31
P Mburu et al.
NATURE GENETICS (2003)
Usher syndrome type III can mimic other types of Usher syndrome
RJE Pennings et al.
ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY (2003)
The molecular genetics of Usher syndrome
ZM Ahmed et al.
CLINICAL GENETICS (2003)
Abnormal phagocytosis by retinal pigmented epithelium that lacks myosin Vila, the Usher syndrome 1B protein
D Gibbs et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2003)
Brief report - A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome
T Ben-Yosef et al.
NEW ENGLAND JOURNAL OF MEDICINE (2003)
Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin
D Weil et al.
HUMAN MOLECULAR GENETICS (2003)
USH1C:: a rare cause of USH1 in a non-Acadian population and a founder effect of the Acadian allele
XM Ouyang et al.
CLINICAL GENETICS (2003)
Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle
B Boëda et al.
EMBO JOURNAL (2002)
CDH23 mutation and phenotype heterogeneity:: A profile of 107 diverse families with Usher syndrome and nonsyndromic deafness
LM Astuto et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2002)
Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness
XM Ouyang et al.
HUMAN GENETICS (2002)
USH3A transcripts encode clarin-1, a four- transmembrane-domain protein with a possible role in sensory synapses
A Adato et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2002)
Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC
ZM Ahmed et al.
HUMAN GENETICS (2002)
Transport to the photoreceptor outer segment by myosin VIIa and kinesin II
DS Williams
VISION RESEARCH (2002)
Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3
T Joensuu et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)
Prevalence of permanent childhood hearing impairment in the United Kingdom and implications for universal neonatal hearing screening: questionnaire based ascertainment study
HM Fortnum et al.
BRITISH MEDICAL JOURNAL (2001)
Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F
ZM Ahmed et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)
Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D
H Bolz et al.
NATURE GENETICS (2001)
A new clinical classification for Usher's syndrome based on a new subtype of Usher's syndrome type I
CR Otterstedde et al.
LARYNGOSCOPE (2001)
Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23
JM Bork et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)
Evaluation of the myosin VIIA gene and visual function in patients with Usher syndrome type I
AK Bharadwaj et al.
EXPERIMENTAL EYE RESEARCH (2000)
Missense mutation in the USH2A gene:: Association with recessive retinitis pigmentosa without hearing loss
C Rivolta et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2000)
A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C
E Verpy et al.
NATURE GENETICS (2000)
分享论文
