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。Expanding the genotypic spectrum of Perrault syndrome
L. A. M. Demain et al.
CLINICAL GENETICS (2017)
Improving hearing loss gene testing: a systematic review of gene evidence toward more efficient next-generation sequencing-based diagnostic testing and interpretation
Ahmad N. Abou Tayoun et al.
GENETICS IN MEDICINE (2016)
The Evolutionarily Conserved Tre2/Bub2/Cdc16 (TBC), Lysin Motif (LysM), Domain Catalytic (TLDc) Domain Is Neuroprotective against Oxidative Stress
Mattea J. Finelli et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2016)
First independent replication of the involvement of LARS2 in Perrault syndrome by whole-exome sequencing of an Italian family
Giulia Solda et al.
JOURNAL OF HUMAN GENETICS (2016)
Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases
Rong Chen et al.
NATURE BIOTECHNOLOGY (2016)
Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disability
Anne-Lise Poulat et al.
EPILEPSY RESEARCH (2015)
Early-onset epileptic encephalopathy with hearing loss in two siblings with TBC1D24 recessive mutations
Barbara Gnidovec Strazisar et al.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (2015)
A Novel Homozygous TBC1D24 Mutation Causing Multifocal Myoclonus With Cerebellar Involvement
Diane Doummar et al.
MOVEMENT DISORDERS (2015)
Recessive TBC1D24 Mutations Are Frequent in Moroccan Non-Syndromic Hearing Loss Pedigrees
Amina Bakhchane et al.
PLOS ONE (2015)
Challenges and solutions for gene identification in the presence of familial locus heterogeneity
Atteeq U. Rehman et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2015)
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy
Mikko Muona et al.
NATURE GENETICS (2015)
Mutations in TBC1D24, a Gene Associated With Epilepsy, Also Cause Nonsyndromic Deafness DFNB86
Atteeq U. Rehman et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2014)
DOORS Syndrome: Phenotype, Genotype and Comparison With Coffin-Siris Syndrome
Philippe M. Campeau et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2014)
Next generation sequencing with copy number variant detection expands the phenotypic spectrum of HSD17B4-deficiency
Daniel S. Lieber et al.
BMC MEDICAL GENETICS (2014)
TBC1D24 Mutation Causes Autosomal-Dominant Nonsyndromic Hearing Loss
Hela Azaiez et al.
HUMAN MUTATION (2014)
Targeted and Genomewide NGS Data Disqualify Mutations in MYO1A, the DFNA48 Gene, as a Cause of Deafness
Tobias Eisenberger et al.
HUMAN MUTATION (2014)
A Dominant Mutation in the Stereocilia-Expressing Gene TBC1D24 is a Probable Cause for Nonsyndromic Hearing Impairment
Luping Zhang et al.
HUMAN MUTATION (2014)
The genetic basis of DOORS syndrome: an exome-sequencing study
Philippe M. Campeau et al.
LANCET NEUROLOGY (2014)
Guidelines for investigating causality of sequence variants in human disease
D. G. MacArthur et al.
NATURE (2014)
Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features
Hiroyuki Morino et al.
NEUROLOGY (2014)
Perrault Syndrome Is Caused by Recessive Mutations in CLPP, Encoding a Mitochondrial ATP-Dependent Chambered Protease
Emma M. Jenkinson et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
Mutations in LARS2, Encoding Mitochondrial Leucyl-tRNA Synthetase, Lead to Premature Ovarian Failure and Hearing Loss in Perrault Syndrome
Sarah B. Pierce et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
TBC1D24 mutation associated with focal epilepsy, cognitive impairment and a distinctive cerebro-cerebellar malformation
Zaid Afawi et al.
EPILEPSY RESEARCH (2013)
Loss of mitochondrial peptidase Clpp leads to infertility, hearing loss plus growth retardation via accumulation of CLPX, mtDNA and inflammatory factors
Suzana Gispert et al.
HUMAN MOLECULAR GENETICS (2013)
Novel Compound Heterozygous Mutations in TBC1D24 Cause Familial Malignant Migrating Partial Seizures of Infancy
Mathieu Milh et al.
HUMAN MUTATION (2013)
TBC1D24 truncating mutation resulting in severe neurodegeneration
Ayse Guven et al.
JOURNAL OF MEDICAL GENETICS (2013)
Regulation from a distance: long-range control of gene expression in development and disease
Veronica van Heyningen et al.
PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES (2013)
SLC26A4 Targeted to the Endolymphatic Sac Rescues Hearing and Balance in Slc26a4 Mutant Mice
Xiangming Li et al.
PLOS GENETICS (2013)
DFNB86, a novel autosomal recessive non-syndromic deafness locus on chromosome 16p13.3
R. A. Ali et al.
CLINICAL GENETICS (2012)
Platinum-Induced Ototoxicity in Children: A Consensus Review on Mechanisms, Predisposition, and Protection, Including a New International Society of Pediatric Oncology Boston Ototoxicity Scale
Penelope R. Brock et al.
JOURNAL OF CLINICAL ONCOLOGY (2012)
Perrault syndrome: further evidence for genetic heterogeneity
Emma M. Jenkinson et al.
JOURNAL OF NEUROLOGY (2012)
Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes
Jacob A. Tennessen et al.
SCIENCE (2012)
Mouse model of enlarged vestibular aqueducts defines temporal requirement of Slc26a4 expression for hearing acquisition
Byung Yoon Choi et al.
JOURNAL OF CLINICAL INVESTIGATION (2011)
Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes
Julie M. Schultz et al.
JOURNAL OF MEDICAL GENETICS (2011)
Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome
Sarah B. Pierce et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2011)
Oxr1 Is Essential for Protection against Oxidative Stress-Induced Neurodegeneration
Peter L. Oliver et al.
PLOS GENETICS (2011)
A Focal Epilepsy and Intellectual Disability Syndrome Is Due to a Mutation in TBC1D24
Mark A. Corbett et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2010)
Mutations in the DBP-Deficiency Protein HSD17B4 Cause Ovarian Dysgenesis, Hearing Loss, and Ataxia of Perrault Syndrome
Sarah B. Pierce et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2010)
TBC1D24, an ARF6-Interacting Protein, Is Mutated in Familial Infantile Myoclonic Epilepsy
Antonio Falace et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2010)
Mutations of KCNJ10 Together with Mutations of SLC26A4 Cause Digenic Nonsyndromic Hearing Loss Associated with Enlarged Vestibular Aqueduct Syndrome
Tao Yang et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
Response to: The c.-103T > C Variant in the 5 '-ATR of SLC26A4 Gene: A Pathogenic Mutation or Coincidental Polymorphism?
Byung Yoon Choi et al.
HUMAN MUTATION (2009)
The OXR domain defines a conserved family of eukaryotic oxidation resistance proteins
Mathieu Durand et al.
BMC CELL BIOLOGY (2007)
Transcriptional control of SLC26A4 is involved in pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4)
Tao Yang et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Current concepts: Newborn hearing screening - A silent revolution
CC Morton et al.
NEW ENGLAND JOURNAL OF MEDICINE (2006)
Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis
S Ferdinandusse et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
Modification of human hearing loss by plasma-membrane calcium pump PMCA2
JM Schultz et al.
NEW ENGLAND JOURNAL OF MEDICINE (2005)
Long-range control of gene expression: Emerging mechanisms and disruption in disease
DA Kleinjan et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2005)
Perrault syndrome: Evidence for progressive nervous system involvement
A Fiumara et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2004)
PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23
ZM Ahmed et al.
HUMAN MOLECULAR GENETICS (2003)
Multiple mutations of MYO1A, a cochlear-expressed gene, in sensorineural hearing loss
F Donaudy et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2003)
Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians:: global implications for the epidemiology of deafness
HJ Park et al.
JOURNAL OF MEDICAL GENETICS (2003)
A wider role for congenital cytomegalovirus infection in sensorineural hearing loss
M Barbi et al.
PEDIATRIC INFECTIOUS DISEASE JOURNAL (2003)
Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function
K Kurima et al.
NATURE GENETICS (2002)
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)
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)
Dominant modifier DFNM1 suppresses recessive deafness DFNB26
S Riazuddin et al.
NATURE GENETICS (2000)
Candidate locus for a nuclear modifier gene for maternally inherited deafness
Y Bykhovskaya et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2000)
分享论文
