Genetic findings of Sanger and nanopore single-molecule sequencing in patients with X-linked hearing loss and incomplete partition type III

Study of complex structural variations of X-linked deafness-2 (DFNX2) based on single-molecule sequencing

(2021) Yi Jiang et al.   BIOSCIENCE REPORTS

Pou3f4‐expressing otic mesenchyme cells promote spiral ganglion neuron survival in the postnatal mouse cochlea

(2020) Paige M. Brooks et al.   JOURNAL OF COMPARATIVE NEUROLOGY

SH3BGRL confers innate drug resistance in breast cancer by stabilizing HER2 activation on cell membrane

(2020) Hui Li et al.   JOURNAL OF EXPERIMENTAL & CLINICAL CANCER RESEARCH

Incomplete partition type III: A rare and difficult cochlear implant surgical indication

(2018) Levent Sennaroğlu et al.   AURIS NASUS LARYNX

Responsiveness of the Electrically Stimulated Cochlear Nerve in Children With Cochlear Nerve Deficiency

(2018) Shuman He et al.   EAR AND HEARING

Position effect, cryptic complexity, and direct gene disruption as disease mechanisms in de novo apparently balanced translocation cases

(2018) Constantia Aristidou et al.   PLoS One

Cross-Database Analysis Reveals Sensitive Biomarkers for Combined Therapy for ERBB2+ Gastric Cancer

(2018) Zhen Xiang et al.   Frontiers in Pharmacology

SH3BGRL as a novel prognostic biomarker is down-regulated in acute myeloid leukemia

(2017) Limei Xu et al.   LEUKEMIA & LYMPHOMA

X-linked Malformation and Cochlear Implantation

(2017) Henrik Smeds et al.   OTOLOGY & NEUROTOLOGY

Classification and Current Management of Inner Ear Malformations

(2017) Levent Sennaroğlu et al.   Balkan Medical Journal

Positive Outcomes and Surgical Strategies for Bilateral Cochlear Implantation in a Child With X-Linked Deafness

(2015) Leslie Kim et al.   ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY

Novel domain-specific POU3F4 mutations are associated with X-linked deafness: examples from different populations

(2015) Guney Bademci et al.   BMC Medical Genetics

Insertion trauma and recovery of function after cochlear implantation: Evidence from objective functional measures

(2015) Bryan E. Pfingst et al.   HEARING RESEARCH

Clinical observations and molecular variables of patients with hearing loss and incomplete partition type III

(2015) Byung Yoon Choi et al.   LARYNGOSCOPE

Cochlear Implantation in Children with Congenital X-Linked Deafness Due to Novel Mutations in POU3F4 Gene

(2014) Konstantina M. Stankovic et al.   ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY

De Novo Large Genomic Deletions Involving POU3F4 in Incomplete Partition Type III Inner Ear Anomaly in East Asian Populations and Implications for Genetic Counseling

(2014) Jin Woong Choi et al.   OTOLOGY & NEUROTOLOGY

X-Linked Deafness-2 (DFNX2) Phenotype Associated With a Paracentric Inversion Upstream ofPOU3F4

(2014) Gregory J. Anger et al.   American Journal of Audiology

Early development and regression in Rett syndrome

(2013) JYL Lee et al.   CLINICAL GENETICS

Audiological and surgical evidence for the presence of a third window effect for the conductive hearing loss in DFNX2 deafness irrespective of types of mutations

(2013) Byung Yoon Choi et al.   EUROPEAN ARCHIVES OF OTO-RHINO-LARYNGOLOGY

Destabilization and Mislocalization of POU3F4 by C-Terminal Frameshift Truncation and Extension Mutation

(2012) Byung Yoon Choi et al.   HUMAN MUTATION

Otic Mesenchyme Cells Regulate Spiral Ganglion Axon Fasciculation through a Pou3f4/EphA4 Signaling Pathway

(2012) Thomas M. Coate et al.   NEURON

Outcome of a universal newborn hearing-screening programme based on multiple transient-evoked otoacoustic emissions and clinical brainstem response audiometry

(2011) Erik Berninger et al.   ACTA OTO-LARYNGOLOGICA

Clinical and molecular characterizations of novel POU3F4 mutations reveal that DFN3 is due to null function of POU3F4 protein

(2009) Hee Keun Lee et al.   PHYSIOLOGICAL GENOMICS

Pathogenesis of retinitis pigmentosa associated with apoptosis-inducing mutations in carbonic anhydrase IV

(2009) R. Datta et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA