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。A genotypic ascertainment approach to refute the association of MYO1A variants with non-syndromic deafness
John Patton et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2017)
The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands
Celia Zazo Seco et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2017)
WFS1 and GJB2 mutations in patients with bilateral low-frequency sensorineural hearing loss
Natsuko Kasakura-Kimura et al.
LARYNGOSCOPE (2017)
Nail-Patella Syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity
Jamal Ghoumid et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2016)
Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2
Regie Lyn P. Santos-Cortez et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2016)
Interstitial 1q23.3q24.1 Deletion in a Patient with Renal Malformation, Congenital Heart Disease, and Mild Intellectual Disability
Luisa Mackenroth et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2016)
A comprehensive catalogue of the coding and non-coding transcripts of the human inner ear
Isabelle Schrauwen et al.
HEARING RESEARCH (2016)
Lmx1a and Lmx1b regulate mitochondrial functions and survival of adult midbrain dopaminergic neurons
Helene Doucet-Beaupre et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2016)
Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2
Celia Zazo Seco et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2015)
Refinement of Genotype-Phenotype Correlation in 18 Patients Carrying a 1q24q25 Deletion
Nicolas Chatron et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2015)
Massively Parallel DNA Sequencing Successfully Identified Seven Families With Deafness-Associated MYO6 Mutations: The Mutational Spectrum and Clinical Characteristics
Maiko Miyagawa et al.
ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY (2015)
Non-syndromic hearing loss gene identification: A brief history and glimpse into the future
Barbara Vona et al.
MOLECULAR AND CELLULAR PROBES (2015)
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 system for exact and approximate genetic linkage analysis of SNP data in large pedigrees
Mark Silberstein et al.
BIOINFORMATICS (2013)
Next-Generation Genetic Testing for Retinitis Pigmentosa
Kornelia Neveling et al.
HUMAN MUTATION (2012)
Mutanlallemand (mtl) and Belly Spot and Deafness (bsd) Are Two New Mutations of Lmx1a Causing Severe Cochlear and Vestibular Defects
Georg Steffes et al.
PLOS ONE (2012)
Lmx1a maintains proper neurogenic, sensory, and non-sensory domains in the mammalian inner ear
Soo Kyung Koo et al.
DEVELOPMENTAL BIOLOGY (2009)
Lmx1a is required for segregation of sensory epithelia and normal ear histogenesis and morphogenesis
David H. Nichols et al.
CELL AND TISSUE RESEARCH (2008)
Diverse Expression Patterns of LIM-Homeodomain Transcription Factors (LIM-HDs) in Mammalian Inner Ear Development
Mingqian Huang et al.
DEVELOPMENTAL DYNAMICS (2008)
A splice-site mutation and overexpression of MYO6 cause a similar phenotype in two families with autosomal dominant hearing loss
Nele Hilgert et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2008)
Identification of entire LMX1B gene deletions in nail patella syndrome:: evidence for haploinsufficiency as the main pathogenic mechanism underlying dominant inheritance in man
Ernie M. H. F. Bongers et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2008)
Nail-patella syndrome and its association with glaucoma: a review of eight families
Z. Mimiwati et al.
BRITISH JOURNAL OF OPHTHALMOLOGY (2006)
Molecular definition of an allelic series of mutations disrupting the mouse Lmx1a (dreher) gene
Victor Chizhikov et al.
MAMMALIAN GENOME (2006)
Genotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy
EMHF Bongers et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2005)
Functional characterization of LMX1B mutations associated with nail-patella syndrome
U Sato et al.
PEDIATRIC RESEARCH (2005)
The human LMX1B gene: transcription unit, promoter, and pathogenic mutations
JA Dunston et al.
GENOMICS (2004)
The LIM domain: From the cytoskeleton to the nucleus
JL Kadrmas et al.
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2004)
WebLogo: A sequence logo generator
GE Crooks et al.
GENOME RESEARCH (2004)
Nail patella syndrome: a review of the phenotype aided by developmental biology
E Sweeney et al.
JOURNAL OF MEDICAL GENETICS (2003)
LMX1B transactivation and expression in nail-patella syndrome
SD Dreyer et al.
HUMAN MOLECULAR GENETICS (2000)
The mouse Dreher gene Lmx1a controls formation of the roof plate in the vertebrate CNS
JH Millonig et al.
NATURE (2000)
Functions of LIM-homeobox genes
O Hobert et al.
TRENDS IN GENETICS (2000)