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List of works by Richard J Smith

A Mutation in the Srrm4 Gene Causes Alternative Splicing Defects and Deafness in the Bronx Waltzer Mouse ⬇️

scientific article published on October 4, 2012

A Progress Report on the Localization of Usher Syndrome Type II to Chromosome 1q

scientific article published on 01 January 1991

A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans

scientific article published in 2021

A candidate prostate cancer susceptibility gene at chromosome 17p

scientific article (publication date: February 2001)

A classification scheme for paradoxical vocal cord motion

scientific article

A claudin-9-based ion permeability barrier is essential for hearing.

scientific article

A comparative analysis of genetic hearing loss phenotypes in European/American and Japanese populations

scientific article published on 07 May 2020

A comparative study of the fallopian canal at the meatal foramen and labyrinthine segment in young children and adults

scientific article published on 01 September 1990

A comprehensive study to determine heterogeneity of autosomal recessive nonsyndromic hearing loss in Iran

scientific article published on 17 August 2012

A contemporary review of AudioGene audioprofiling: a machine-based candidate gene prediction tool for autosomal dominant nonsyndromic hearing loss.

scientific article

A forward genetics screen in mice identifies recessive deafness traits and reveals that pejvakin is essential for outer hair cell function

scientific journal article

A gene for fluctuating, progressive autosomal dominant nonsyndromic hearing loss, DFNA16, maps to chromosome 2q23-24.3.

scientific article

A histologic study of nonmorphogenetic forms of hereditary hearing impairment.

scientific article published in October 1992

A large deletion in GPR98 causes type IIC Usher syndrome in male and female members of an Iranian family.

scientific article published on April 2009

A new glyptosaurine lizard from the earliest Eocene of Dormaal, Belgium

article

A new tissue adhesive for laceration repair in children

scientific article published on 01 June 1998

A novel DFNA5 mutation does not cause hearing loss in an Iranian family.

scientific article

A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression.

scientific article

A novel deletion in the RCA gene cluster causes atypical hemolytic uremic syndrome.

scientific article

A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment.

scientific article published in July 2005

A novel hybrid CFHR1/CFH gene causes atypical hemolytic uremic syndrome ⬇️

scientific article published on July 24, 2013

A novel locus for autosomal dominant nonsyndromic hearing loss, DFNA13, maps to chromosome 6p

scientific article

A novel mutation adjacent to the Bth mouse mutation in the TMC1 gene makes this mouse an excellent model of human deafness at the DFNA36 locus.

scientific article

A novel mutation in ACTG1 causing Baraitser-Winter syndrome with extremely variable expressivity in three generations.

scientific article published on 20 April 2016

A novel splice site mutation in EYA4 causes DFNA10 hearing loss.

scientific article

A novel splice site mutation in the RDX gene causes DFNB24 hearing loss in an Iranian family.

scientific article

A proposal for comprehensive newborn hearing screening to improve identification of deaf and hard-of-hearing children

scientific article published on 07 June 2019

A second gene for otosclerosis, OTSC2, maps to chromosome 7q34-36.

scientific article

A seventh locus for otosclerosis, OTSC7, maps to chromosome 6q13-16.1.

scientific article published on 10 January 2007

A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing

scientific article published in 2021

Acyclovir in the treatment of recurrent respiratory papillomatosis. A pilot study

scientific article published on 01 April 1994

Advances in molecular and cellular therapies for hearing loss.

scientific article

Aerocele after tracheocutaneous fistula closure

scientific article published on 01 January 1998

Age-related mitochondrial DNA mutations in the human larynx

scientific article published on 01 December 2000

Allelic variants of complement genes associated with dense deposit disease

scientific article

Alternative pathway dysfunction in kidney disease: a case report and review of dense deposit disease and C3 glomerulopathy.

scientific article published on 05 February 2013

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

scientific article

An update on the treatment of hemangiomas in children with interferon alfa-2a

scientific article published on 01 January 1999

Association of a Novel Complement Factor H Mutation With Severe Crescentic and Necrotizing Glomerulonephritis ⬇️

scientific article published on April 26, 2012

Atypical aHUS: State of the art.

scientific article

Atypical haemolytic-uraemic syndrome due to heterozygous mutations of CFH/CFHR1-3 and complement factor H 479.

scientific article

Atypical hemolytic uremic syndrome and C3 glomerulopathy: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies Conference.

scientific article published on 15 December 2016

Atypical postinfectious glomerulonephritis is associated with abnormalities in the alternative pathway of complement ⬇️

scientific article published on December 12, 2012

AudioGene: predicting hearing loss genotypes from phenotypes to guide genetic screening.

scientific article published on 19 February 2013

AudioGene: refining the natural history of KCNQ4, GSDME, WFS1, and COCH-associated hearing loss

scientific article published in 2022

Audioprofile Surfaces: The 21st Century Audiogram

scientific article published on 3 November 2015

Audioprofile-directed screening identifies novel mutations in KCNQ4 causing hearing loss at the DFNA2 locus.

scientific article published on November 2008

Audioprofiling identifies TECTA and GJB2-related deafness segregating in a single extended pedigree.

scientific article

Autoimmune disease in a DFNA6/14/38 family carrying a novel missense mutation in WFS1.

article published in 2008

Autosomal dominant branchio-oto-renal syndrome--localization of a disease gene to chromosome 8q by linkage in a Dutch family

scientific article published on October 1, 1992

Benign mucous membrane pemphigoid

scientific article published on 01 March 1982

Bilateral pneumolabyrinth diagnostic for otic capsule fractures without high-resolution imaging.

scientific article published in December 2007

Bipolar hooked-wire electromyographic technique in the evaluation of pediatric vocal cord paralysis.

scientific article published in September 1993

Branchio-oto-renal syndrome

scientific article published on 01 September 1998

Branchio-oto-renal syndrome

scientific article published on 01 July 2007

Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR.

scientific article published on April 2008

Branchio-oto-renal syndrome: the mutation spectrum in EYA1 and its phenotypic consequences.

scientific article

C3 Glomerulopathy: Ten Years' Experience at Mayo Clinic

scientific article published on 01 August 2018

C3 glomerulonephritis and autoimmune disease: more than a fortuitous association?

scientific article published on 18 July 2015

C3 glomerulonephritis associated with complement factor B mutation

scientific article published on 18 December 2014

C3 glomerulonephritis associated with monoclonal gammopathy: a case series.

scientific article published on 26 April 2013

C3 glomerulonephritis secondary to mutations in factors H and I: rapid recurrence in deceased donor kidney transplant effectively treated with eculizumab.

scientific article published on 23 January 2018

C3 glomerulonephritis with a severe crescentic phenotype.

scientific article

C3 glomerulonephritis: clinicopathological findings, complement abnormalities, glomerular proteomic profile, treatment, and follow-up ⬇️

scientific article published on August 1, 2012

C3 glomerulopathy associated with monoclonal Ig is a distinct subtype

scientific article published on 03 May 2018

C3 glomerulopathy: consensus report

scientific article published on 30 October 2013

C3 glomerulopathy: the genetic and clinical findings in dense deposit disease and C3 glomerulonephritis.

scientific article published on 05 May 2014

C4 Glomerulopathy: A Disease Entity Associated With C4d Deposition

scientific article published on 17 February 2016

C4 Nephritic Factors in C3 Glomerulopathy: A Case Series.

scientific article published on 22 August 2017

C4 dense-deposit disease

scientific article published on 01 February 2014

CDC14A Phosphatase is Essential for Hearing and Male Fertility in Mouse and Human.

scientific article published on 23 December 2017

CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival

scientific article published on 30 October 2017

COCH-related autosomal dominant nonsyndromic hearing loss: a phenotype–genotype study

scientific article published in 2021

COL1A1 association and otosclerosis: A meta-analysis

scientific article published on 9 April 2012

Carcinoembryonic antigen-related cell adhesion molecule 16 interacts with alpha-tectorin and is mutated in autosomal dominant hearing loss (DFNA4).

scientific article

Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness.

scientific article published in June 1999

Case of progressive dysplasia concomitant with intralesional cidofovir administration for recurrent respiratory papillomatosis

scientific article published in November 2005

Causes of facial swelling in pediatric patients: correlation of clinical and radiologic findings.

scientific article

Cav3.2 T-type calcium channel is required for the NFAT-dependent Sox9 expression in tracheal cartilage

scientific article

Cervical vertebral anomalies in patients with anomalies of the head and neck.

scientific article

Challenges and solutions for gene identification in the presence of familial locus heterogeneity

scientific article

Characterisation of DRASIC in the mouse inner ear.

scientific article published in April 2004

Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran

scientific article

Characterization of C3 in C3 glomerulopathy

scientific article

Chronic cough and tonsillar hypertrophy: a case series

scientific article published on 01 November 2008

Clinical aspects of hereditary hearing loss.

scientific article published on July 2007

Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium

scientific article

Clinical features and outcomes of 98 children and adults with dense deposit disease.

scientific article published on 22 November 2011

Clinical findings, pathology, and outcomes of C3GN after kidney transplantation

scientific article published on 19 December 2013

Cloning genes for non-syndromal hearing impairment.

scientific article published in October 1999

Cochlear expression of a dominant-negative GJB2R75W construct delivered through the round window membrane in mice.

scientific article published on 24 March 2007

Col11a2 deletion reveals the molecular basis for tectorial membrane mechanical anisotropy.

scientific article

Commentary on “Dysplasia in Adults with Recurrent Respiratory Papillomatosis: Incidence and Risk Factors”

article

Comparative linkage analysis and visualization of high-density oligonucleotide SNP array data

scientific article

Complement C3-Targeted Therapy: Replacing Long-Held Assertions with Evidence-Based Discovery.

scientific article

Complement factor B mutations in atypical hemolytic uremic syndrome-disease-relevant or benign?

scientific article

Complement factor H mutations are present in ADAMTS13-deficient, ticlopidine-associated thrombotic microangiopathies.

scientific article published in May 2013

Complement inhibition in C3 glomerulopathy.

scientific article

Comprehensive Genetic Testing for Deafness from Fresh and Archived Dried Blood Spots

scientific article published on 28 August 2018

Comprehensive genetic analysis of complement and coagulation genes in atypical hemolytic uremic syndrome

scientific article

Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing.

scientific article

Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss

scientific article published on 11 March 2016

Comprehensive genetic testing with ethnic-specific filtering by allele frequency in a Japanese hearing-loss population

scientific article

Compstatin analog Cp40 inhibits complement dysregulation in vitro in C3 glomerulopathy

scientific article published on 5 May 2015

Congenital anomalies of the larynx

scientific article published on 01 January 1984

Congenital hearing loss.

scientific article

Congenital laryngeal webs: surgical course and outcomes

scientific article published on 01 October 2010

Congenital oral synechiae.

scientific article

Connexin mutations and hearing loss ⬇️

scientific article published on January 1, 1998

Consanguineous nuclear families used to identify a new locus for recessive non-syndromic hearing loss on 14q.

scientific article published in September 1995

Consortium of otolaryngology--head and neck surgery journals to collaborate in maintenance of high ethical standards

scientific article published on 01 May 2005

Consortium of otolaryngology-head and neck surgery journals to collaborate in maintenance of high ethical standards

scientific article published on 05 August 2005

Consortium of otolaryngology-head and neck surgery journals to collaborate in maintenance of high ethical standards

scientific article published on 01 May 2005

Consortium statement. The value of resident presentations at scientific meetings.

scientific article

Construction of P1-Derived Artificial Chromosome and Yeast Artificial Chromosome Contigs Encompassing the DFNB7 andDFNB11 Region of Chromosome 9q13–21 ⬇️

scientific article published on September 1, 1997

Contig Maps and Genomic Sequencing Identify Candidate Genes in the Usher 1C Locus ⬇️

scientific article published on January 1, 1998

Copy number variants are a common cause of non-syndromic hearing loss

scientific article

Cordova: web-based management of genetic variation data

scientific article

Craniocervical necrotizing fasciitis

scientific article published on 01 June 1984

Craniofacial growth in rabbits. Effects of midfacial surgical trauma and rigid plate fixation

scientific article published on 01 May 1995

Current management of laryngeal and laryngotracheoesophageal clefts

scientific article published on 01 August 1990

Cystic fibrosis--an otolaryngologic perspective

scientific article published on 01 October 1987

DFNA5 (GSDME) c.991-15_991-13delTTC: Founder Mutation or Mutational Hotspot?

scientific article published on 31 May 2020

DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss.

scientific article published on 7 June 2011

De novo mutation in X-linked hearing loss-associated POU3F4 in a sporadic case of congenital hearing loss

scientific article

Deafness: from bedside to bench and back

scientific article published on 01 August 2002

Defining the complement biomarker profile of C3 glomerulopathy

scientific article

Degrees of dysplasia and the use of cidofovir in patients with recurrent respiratory papillomatosis.

scientific article published in April 2010

Dense Deposit Disease Associated With Monoclonal Gammopathy of Undetermined Significance ⬇️

scientific article published on September 15, 2010

Dense deposit disease and the factor H H402 allele.

scientific article published on 26 January 2008

Dense deposit disease.

scientific article

Detection and Confirmation of Deafness-Causing Copy Number Variations in the STRC Gene by Massively Parallel Sequencing and Comparative Genomic Hybridization.

scientific article published on 28 July 2016

Developmental aspects of the upper airway: report from an NHLBI Workshop, March 5-6, 2009.

scientific article

Diagnosis and treatment of C3 glomerulopathy.

scientific article published on December 2013

Diagnosis of complement alternative pathway disorders

scientific article published in February 2016

Discontinuation of dialysis with eculizumab therapy in a pediatric patient with dense deposit disease

scientific article published on 13 January 2016

Distal tracheal stenosis in neonates and infants

scientific article published on 01 October 1992

Do the genes that cause otosclerosis reduce susceptibility to otitis media?

scientific article published in November 2003

Early childhood hearing loss: clinical and molecular genetics. An educational slide set of the American College of Medical Genetics.

scientific article published in July 2003

Eculizumab and recurrent C3 glomerulonephritis

scientific article published on 22 May 2013

Eculizumab for dense deposit disease and C3 glomerulonephritis

scientific article

Effects of rigid plate fixation and subsequent removal on craniofacial growth in rabbits

scientific article published on 01 April 1998

Endobronchial tumors in children: an uncommon clinical entity

scientific article

Endoscopic excision and repair of simulated bilateral cleft lips in fetal lambs

scientific article published on 01 June 1999

Endoscopic repair of type IA laryngeal clefts

scientific article published on 01 February 1997

Enhanced viral-mediated cochlear gene delivery in adult mice by combining canal fenestration with round window membrane inoculation

scientific article published on 14 February 2018

Erratum: Polymorphisms in KCNE1 or KCNE3 are not associated with Ménière disease in the Caucasian population

scholarly article published in American Journal of Medical Genetics

Exercise-induced laryngomalacia.

scientific article published on July 1995

Exome sequencing utility in defining the genetic landscape of hearing loss and novel-gene discovery in Iran

scientific article published on 24 March 2021

Exonic mutations and exon skipping: Lessons learned from DFNA5.

scientific article published on 19 December 2017

Facial skeletal growth after endoscopic sinus surgery in the piglet model

scientific article published on 01 May 1997

Factor I and factor H deficiency in renal diseases: similar defects in the fluid phase have a different outcome at the surface of the glomerular basement membrane.

scientific article published on 04 December 2008

Factors correlating with burnout in practicing otolaryngologists.

scientific article published on 10 November 2011

Factors influencing treatment of atypical hemolytic uremic syndrome.

scientific article published on 18 August 2014

Familial C3 glomerulonephritis caused by a novel CFHR5-CFHR2 fusion gene

scientific article published on August 2016

Familial atypical hemolytic uremic syndrome: a review of its genetic and clinical aspects

scientific article

Familial laryngeal paralysis ⬇️

scientific article published on May 26, 1998

Familial transmission of oculoauriculovertebral spectrum (Goldenhar syndrome) is not due to mutations in either EYA1 or SALL1

scientific article published on 01 March 2009

Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics?

scientific article

Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children.

scientific article

Function and expression pattern of nonsyndromic deafness genes

scientific article

Functional variants in NOS1 and NOS2A are not associated with progressive hearing loss in Ménière's disease in a European Caucasian population.

scientific article published on 25 May 2011

GJB2 gene mutations causing familial hereditary deafness in Turkey.

scientific article published in December 2003

GJB2 mutations and degree of hearing loss: a multicenter study

scientific article

GJB2 mutations: passage through Iran

scientific article published on 01 March 2005

GJB2: the spectrum of deafness-causing allele variants and their phenotype.

scientific article

Gene expression analysis of human otosclerotic stapedial footplates.

scientific article published on 15 March 2008

Generation of multiple fluid-phase C3b:plasma protein complexes during complement activation: possible implications in C3 glomerulopathies

scientific article published on 23 December 2013

Genetic Analysis of 400 Patients Refines Understanding and Implicates a New Gene in Atypical Hemolytic Uremic Syndrome

article

Genetic Studies of Usher Syndrome

scientific article published on 01 January 1991

Genetic heterogeneity of Usher syndrome: analysis of 151 families with Usher type I.

scientific article

Genetic heterogeneity of deafness phenotypes linked to DFNA4

scientific article published on 01 November 2005

Genetic male infertility and mutation of CATSPER ion channels.

scientific article

Genetic screening for deafness.

scientific article

Genetic screening for hearing loss.

scientific article

Genetic variants in the RELN gene are associated with otosclerosis in multiple European populations.

scientific article published on 22 October 2009

Genetic variants in the peripheral auditory system significantly affect adult cochlear implant performance.

scientific article published on 14 February 2017

Genetics Evaluation Guidelines for the Etiologic Diagnosis of Congenital Hearing Loss. Genetic Evaluation of Congenital Hearing Loss Expert Panel. ACMG statement

scientific article

Genetics of hearing impairment.

scientific article

Genetics: advances in genetic testing for deafness

scientific article published on December 2012

Genome-wide copy number variation analysis of a Branchio-oto-renal syndrome cohort identifies a recombination hotspot and implicates new candidate genes ⬇️

scientific article published on July 13, 2013

Genomic Landscape and Mutational Signatures of Deafness-Associated Genes

article

Genomic rearrangements of EYA1 account for a large fraction of families with BOR syndrome

scientific article (publication date: November 2002)

Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa

scientific article

Genotype-phenotype correlations for SLC26A4-related deafness.

scientific article

Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human. ⬇️

scientific article

Grxcr2 is required for stereocilia morphogenesis in the cochlea

scientific article published in PLoS ONE

HOMER2, a stereociliary scaffolding protein, is essential for normal hearing in humans and mice.

scientific article

Headbobber: a combined morphogenetic and cochleosaccular mouse model to study 10qter deletions in human deafness

scientific article

Hearing genes and cisplatin deafness: a pilot study.

scientific article published on January 2006

Hearing loss caused by a P2RX2 mutation identified in a MELAS family with a coexisting mitochondrial 3243AG mutation

scientific article

Hearing loss disorders associated with renal disease.

scientific article published on 24 February 2011

High frequency of the p.R34X mutation in the TMC1 gene associated with nonsyndromic hearing loss is due to founder effects

scientific article

High prevalence of symptoms of Menière's disease in three families with a mutation in the COCH gene

scientific article (publication date: August 1999)

High-Throughput Genetic Testing for Thrombotic Microangiopathies and C3 Glomerulopathies

scientific article

HspE7 treatment of pediatric recurrent respiratory papillomatosis: final results of an open-label trial

scientific article

Identification and mutation analysis of a cochlear-expressed, zinc finger protein gene at the DFNB7/11 and dn hearing-loss loci on human chromosome 9q and mouse chromosome 19.

scientific article published in July 1998

Identification of SLC26A4 gene mutations in Iranian families with hereditary hearing impairment.

scientific article published on 24 September 2008

Identification of three novel TECTA mutations in Iranian families with autosomal recessive nonsyndromic hearing impairment at the DFNB21 locus.

scientific article

IgG4-related disease in an adolescent with radiologic-pathologic correlation

scientific article published on 7 December 2016

Impact of tympanostomy tubes on child quality of life.

scientific article published in May 2000

Impairment of SLC17A8 encoding vesicular glutamate transporter-3, VGLUT3, underlies nonsyndromic deafness DFNA25 and inner hair cell dysfunction in null mice.

scientific article

In Vivo Electrocochleography in Hybrid Cochlear Implant Users Implicates TMPRSS3 in Spiral Ganglion Function

scientific article published in Scientific Reports

In vitro and in vivo suppression of GJB2 expression by RNA interference.

scientific article published on 27 April 2005

Inactivation of NADPH oxidase organizer 1 results in severe imbalance

scientific article

Incidence of vocal fold paralysis in infants undergoing ligation of patent ductus arteriosus.

scientific article published on March 1996

Interarytenoid notch height relative to the vocal folds. Pilot study.

scientific article published in October 1994

International Pediatric ORL Group (IPOG) laryngomalacia consensus recommendations

scientific article

International Pediatric Otolaryngology Group (IPOG) consensus recommendations: Hearing loss in the pediatric patient.

scientific article

Intra-arterial cisplatin treatment of adenoid cystic carcinoma

scientific article published on 01 April 1982

Intracellular Regulome Variability Along the Organ of Corti: Evidence, Approaches, Challenges, and Perspective.

scientific article

Intraoperative diagnosis of primary ciliary dyskinesia

scientific article published on 01 January 1997

Intravenous rAAV2/9 injection for murine cochlear gene delivery.

scientific article published on 29 August 2017

Is Genetic Testing Indicated in a Pediatric Patient with Unilateral Hearing Loss or <scp>Single‐Sided</scp> Deafness?

scientific article published in 2023

Ketogenic diet - A novel treatment for early epileptic encephalopathy due to PIGA deficiency.

scientific article published on 25 April 2016

Laryngeal motion during exercise

scientific article published on 01 January 1999

Laryngomalacia and its treatment

scientific article

Learner Autonomy in Developing Countries ⬇️

Linkage of Usher syndrome type I gene (USH1B) to the long arm of chromosome 11

scientific article (publication date: December 1992)

Linkage of a gene for dominant non-syndromic deafness to chromosome 19.

scientific article

Linkage studies of Usher syndrome type 1: exclusion results from the Usher syndrome consortium

scientific article published on November 1, 1992

Localization of a gene for non-syndromic hearing loss (DFNA5) to chromosome 7p15.

scientific article

Localization of a gene for otosclerosis to chromosome 15q25-q26.

scientific article published in February 1998

Localization of a novel gene for nonsyndromic hearing loss (DFNB17) to chromosome region 7q31 ⬇️

scientific article published on June 30, 1998

Localization of the gene for familial laryngeal abductor paralysis to chromosome 6q16

scientific article published on 01 August 2001

Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42

scientific article

Lymphangioma. An otolaryngologic perspective

scientific article published on 01 December 1987

Lymphatic malformations

scientific article published on 01 January 2004

MYO1F as a candidate gene for nonsyndromic deafness, DFNB15.

scientific article

Making sense of nonsyndromic deafness

scientific article published on 01 April 2003

Massively Parallel Sequencing for Genetic Diagnosis of Hearing Loss: The New Standard of Care

scientific article

Maternally inherited nonsyndromic hearing loss.

scientific article published on June 1999

Mayo Clinic/Renal Pathology Society Consensus Report on Pathologic Classification, Diagnosis, and Reporting of GN

scientific article

Medical evaluation of pediatric hearing loss. Laboratory, radiographic, and genetic testing.

scientific article

Membranoproliferative glomerulonephritis and C3 glomerulopathy: resolving the confusion ⬇️

scientific article published on December 7, 2011

Membranoproliferative glomerulonephritis secondary to monoclonal gammopathy.

scientific article

Mesangial immune complex glomerulonephritis due to complement factor D deficiency

scientific article published on 04 April 2007

Microarray analysis of the effect of dexamethasone on murine cochlear explants.

scientific article

Microdeletion of 17q22q23.2 encompassing TBX2 and TBX4 in a patient with congenital microcephaly, thyroid duct cyst, sensorineural hearing loss, and pulmonary hypertension ⬇️

scientific article published on January 13, 2011

Middle ear adenoma with neuroendocrine differentiation (MEA-ND) in the pediatric population

scientific article published on 19 March 2009

Molecular characterization of a novel X-linked syndrome involving developmental delay and deafness.

scientific article published in November 2007

Monitoring stress levels in postgraduate medical training.

scientific article published in January 2009

Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11

scientific article published on 9 July 2008

Mutation in the COCH gene is associated with superior semicircular canal dehiscence

scientific article published on 01 February 2009

Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus

scientific article

Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia.

scientific article published on 7 May 2015

Mutation screening for deafness: more than simply another diagnostic test

scientific article published on 01 August 2001

Mutation-agnostic RNA interference with engineered replacement rescues<i>Tmc1</i>-related hearing loss

scientific article published in 2022

Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease

scientific article (publication date: October 2003)

Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13)

scientific article

Mutations in Complement Factor H Impair Alternative Pathway Regulation on Mouse Glomerular Endothelial Cells in Vitro

scientific article published on 4 January 2016

Mutations in Grxcr1 are the basis for inner ear dysfunction in the pirouette mouse

scientific journal article

Mutations in LOXHD1 gene cause various types and severities of hearing loss

scientific article

Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans

scientific article

Mutations in TMC1 are a common cause of DFNB7/11 hearing loss in the Iranian population.

scientific article

Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus.

scientific article published on 24 July 2002

Mutations in the first MyTH4 domain of MYO15A are a common cause of DFNB3 hearing loss.

scientific article

Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26).

scientific article

Mutations in the human α-tectorin gene cause autosomal dominant non-syndromic hearing impairment ⬇️

scientific article published on May 1, 1998

Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus

scientific article

Navigating genetic diagnostics in patients with hearing loss.

scientific article

New treatment options for lymphangioma in infants and children

scientific article (publication date: December 2002)

No evidence for association between the renin-angiotensin-aldosterone system and otosclerosis in a large Belgian-Dutch population.

scientific article published in December 2009

Nonsyndromic hearing impairment is associated with a mutation in DFNA5

scientific article

Nonsyndromic hearing loss.

scientific article

Nontraumatic atlantoaxial rotary subluxation in the pediatric otolaryngology patient. A report of four cases.

scientific article

Novel PTPRQ mutations identified in three congenital hearing loss patients with various types of hearing loss

scientific article

OK-432 therapy for lymphangiomas

scientific article published on 01 November 1996

OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele

scientific article

Old gene, new phenotype: splice-altering variants in CEACAM16 cause recessive non-syndromic hearing impairment

scientific article published on 27 April 2018

One-stage repair of congenital laryngeal webs

scientific article published on 01 March 1995

Open Access-Is There a Predator at the Door?

scientific article published on 15 February 2018

Open Access: Is There a Predator at the Door?

scientific article published on 15 February 2018

Open Access: Is There a Predator at the Door?

scientific article

Open Access: Is There a Predator at the Door?

scientific article published on 01 March 2018

Open Access: Is There a Predator at the Door?

scientific article published on 22 February 2018

Open Access: Is There a Predator at the Door?

article published in 2018

Open Access: Is There a Predator at the Door?

Open access: Is there a predator at the door?

scientific article

Open access: is there a predator at the door?

scientific article published in February 2018

Open access: is there a predator at the door?

scientific article

Otosclerosis

scientific article published on 24 February 2011

Otosclerosis: a genetically heterogeneous disease involving at least three different genes.

scientific article published in April 2002

Overlap of ultrastructural findings in C3 glomerulonephritis and dense deposit disease

scientific article published in December 2015

PDZD7 and hearing loss: More than just a modifier

scientific article (publication date: December 2015)

PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy

scientific article

Parental attitudes toward genetic testing for pediatric deafness

scientific article

Partial ADAMTS13 deficiency in atypical hemolytic uremic syndrome ⬇️

scientific article published on July 11, 2013

Passage to India: The Search for Genes Causing Autosomal Recessive Nonsyndromic Hearing Loss ⬇️

scientific article published on March 1, 1998

Pathogenesis and treatment of juvenile onset recurrent respiratory papillomatosis

scientific article

Pediatric airway reconstruction: principles, decision-making, and outcomes at the University of Iowa hospitals and clinics

scientific article published on 01 April 2004

Pediatric endoscopic airway management with posterior cricoid rib grafting.

scientific article

Pediatric exercise-induced laryngomalacia.

scientific article published on March 1996

Pediatric otolaryngologists' knowledge and understanding of genetic testing for deafness.

scientific article published on August 2001

Pelvic tilt. Intratester reliability of measuring the standing position and range of motion

scientific article published on 01 February 1985

Pendred syndrome and DFNB4-mutation screening ofSLC26A4by denaturing high-performance liquid chromatography and the identification of eleven novel mutations

article

Phenotypic and pathologic evaluation of the myd mouse. A candidate model for facioscapulohumeral dystrophy.

scientific article published in July 1995

Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene

scientific article

Polymerase chain reaction amplification of herpes simplex viral DNA from the geniculate ganglion of a patient with Bell's palsy

scientific article published on 01 October 1994

Posterior laryngeal cleft: an analysis of ten cases

scientific article published on 01 May 1984

Postoperative care following single-stage laryngotracheoplasty

scientific article published on 01 April 1996

Pre-capture multiplexing improves efficiency and cost-effectiveness of targeted genomic enrichment

scientific article

Pre-emptive eculizumab and plasmapheresis for renal transplant in atypical hemolytic uremic syndrome

scientific article

Preoperative evaluation of thyroglossal duct cysts: children versus adults--is there a difference?

scientific article published on 26 October 2013

Prestin, a cochlear motor protein, is defective in non-syndromic hearing loss

scientific article

Presymptomatic Diagnosis of Nonsyndromic Hearing Loss by Genotyping ⬇️

scientific article published on January 1, 1998

Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study

scientific article

Proliferative glomerulonephritis secondary to dysfunction of the alternative pathway of complement

scientific article

Promoter, alternative splice forms, and genomic structure of protocadherin 15.

scientific article published on 15 August 2007

RNA Interference Prevents Autosomal-Dominant Hearing Loss.

scientific article published on 26 May 2016

Rare variants in BMP2 and BMP4 found in otosclerosis patients reduce Smad signaling.

scientific article published on March 2014

Recent advances in the molecular genetics of epilepsy.

scientific article published on 06 March 2013

Recurrent Atypical Hemolytic Uremic Syndrome in Children With Acute Lymphoblastic Leukemia Undergoing Maintenance Chemotherapy

scientific article

Recurrent atypical hemolytic uremic syndrome associated with factor I mutation in a living related renal transplant recipient

scientific article

Recurrent respiratory papillomatosis

scientific article published on 01 December 1996

Recurrent respiratory papillomatosis: pathogenesis to treatment.

scientific article published in December 2005

Reducing the Cost of the Diagnostic Odyssey in Early Onset Epileptic Encephalopathies.

scientific article published on 08 May 2016

Reducing the exome search space for mendelian diseases using genetic linkage analysis of exome genotypes

scientific article published on 14 September 2011

Refinement of the DFNA4 locus to a 1.44 Mb region in 19q13.33.

scientific article published on 24 March 2004

Refining the DFNB7-DFNB11 deafness locus using intragenic polymorphisms in a novel gene, TMEM2

scientific journal article

Reflex laryngospasm induced by stimulation of distal esophageal afferents

scientific article published on 01 February 1994

Report on attempts to localize Usher syndrome type 1 by linkage analysis to selected candidate regions

scientific article published on 01 January 1991

Respiratory manifestations of gastroesophageal reflux disease in pediatric patients

scientific article published on 01 January 1996

Role of Substance P in the Laryngeal Chemoreflex ⬇️

scientific article published on July 1, 1998

Role of perivenous areolar tissue and recipient bed in the viability of venous flaps in the rabbit ear model

scientific article published on 01 January 1994

SIX1 mutation screening in 247 branchio-oto-renal syndrome families: a recurrent missense mutation associated with BOR.

scientific article published in April 2008

SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes

scientific article

Screening audiometry using the high-risk register in a level III nursery

scientific article published on December 1, 1992

Screening of Living Kidney Donors for Genetic Diseases Using a Comprehensive Genetic Testing Strategy.

scientific article

Screening of deafness-causing DNA variants that are common in patients of European ancestry using a microarray-based approach

scientific article

Searching for evidence of DFNB2.

scientific article

Secondary focal and segmental glomerulosclerosis associated with single-nucleotide polymorphisms in the genes encoding complement factor H and C3.

scientific article published on 16 May 2012

Selective cochlear degeneration in mice lacking the F-box protein, Fbx2, a glycoprotein-specific ubiquitin ligase subunit.

scientific article

Sensorineural Hearing Loss: A Changing Paradigm for Its Evaluation.

scientific article published on 27 July 2015

Sensorineural deafness and male infertility: a contiguous gene deletion syndrome

scientific article published on 10 November 2006

Sensorineural deafness and male infertility: a contiguous gene deletion syndrome.

scientific article

Sensorineural hearing loss in children.

scientific article

Sialoendoscopy for the Treatment of Pediatric Salivary Gland Disorders ⬇️

scientific article published on October 1, 2012

Single-nucleotide polymorphisms in the COL1A1 regulatory regions are associated with otosclerosis

scientific article

Sjögren's syndrome in children

scientific article published on 01 February 1986

Soluble c5b-9 as a biomarker for complement activation in atypical hemolytic uremic syndrome

scientific article published on 25 March 2015

Solution-based targeted genomic enrichment for precious DNA samples

scientific article

Spectrum of GJB2 (Cx26) gene mutations in Iranian Azeri patients with nonsyndromic autosomal recessive hearing loss.

scientific article published on 14 December 2011

Standards for ethical publication

scientific article published on 01 January 2007

Standards for ethical publication

scientific article published on 01 December 2006

Standards for ethical publication.

scientific article published in January 2007

Statistical Validation of Rare Complement Variants Provides Insights into the Molecular Basis of Atypical Hemolytic Uremic Syndrome and C3 Glomerulopathy.

scientific article published on 2 March 2018

Streptococcal infection as possible trigger for dense deposit disease (C3 glomerulopathy)

scientific article published on 03 January 2014

Suprastomal granulation tissue and pediatric tracheotomy decannulation

scientific article

Surfactant protein A in rabbit sinus and middle ear mucosa

scientific article published on 01 October 1999

Survivin expression in juvenile-onset recurrent respiratory papillomatosis.

scientific article

TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss.

scientific article

Tailored eculizumab therapy in the management of complement factor H-mediated atypical hemolytic uremic syndrome in an adult kidney transplant recipient: a case report.

scientific article

Targeted genomic enrichment and massively parallel sequencing identifies novel nonsyndromic hearing impairment pathogenic variants in Cameroonian families.

scientific article published on June 2016

Temporal bone analysis of patients with presbycusis reveals high frequency of mitochondrial mutations.

scientific article published on August 1997

Temporal bone histopathology in connexin 26-related hearing loss

scientific article

Temporomandibular joint dysfunction in infancy

scientific article published on 01 November 1986

The Coxsackievirus and Adenovirus Receptor: a new adhesion protein in cochlear development

scientific journal article

The authors reply

The c.-103T>C variant in the 5'-UTR of SLC26A4 gene: a pathogenic mutation or coincidental polymorphism?

scientific article published on 01 October 2009

The effect of GJB2 allele variants on performance after cochlear implantation.

scientific article published in December 2003

The effect of low-energy laser on skin-flap survival in the rat and porcine animal models

scientific article

The genetics of otosclerosis.

scientific article published on 14 July 2009

The genetics of the alternative pathway of complement in the pathogenesis of HELLP syndrome.

scientific article published on 7 June 2012

The hearing-impaired patient: what the future holds

scientific article published in 2022

The influence of the helium-neon laser irradiation on the viability of skin flaps in the rat

scientific article published on 01 September 2000

The mitochondrial TIM22 preprotein translocase is highly conserved throughout the eukaryotic kingdom

scientific article (publication date: 24 December 1999)

The natural history of OTOF-related auditory neuropathy spectrum disorders: a multicenter study

scientific article published on 23 August 2021

The prevalence of mitochondrial mutations associated with aminoglycoside-induced sensorineural hearing loss in an NICU population.

scientific article published on 14 April 2011

The rare third branchial cleft cyst

scientific article published on 27 May 2009

The role of complement in C3 glomerulopathy

scientific article

The role of connexins in human disease.

scientific article

The use of genetic testing in the evaluation of hearing impairment in a child.

scientific article published in December 2005

The value of resident presentations at scientific meetings

scientific article published on December 2012

The value of resident presentations at scientific meetings

scientific article published on 17 November 2012

The value of resident presentations at scientific meetings

scientific article published on 29 November 2012

Thyroid nodules in children

scientific article published on 01 July 1986

Tracheal allograft reconstruction: the total North American and worldwide pediatric experiences

scientific article

Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome

scientific article

Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4)

scientific article

Treatment of lymphangiomas in children: an update of Picibanil (OK-432) sclerotherapy

scientific article published on 01 October 1999

Treatment of lymphangiomas with OK-432 (Picibanil) sclerotherapy: a prospective multi-institutional trial.

scientific article published in October 2002

Treatment of massive or life‐threatening hemangiomas with recombinant α2a‐interferon ⬇️

scientific article published on July 1, 1997

Treatment options for C3 glomerulopathy ⬇️

scientific article published on March 1, 2013

Trends in the use of tracheotomy in the pediatric patient: The Iowa experience ⬇️

scientific article published on July 1, 1995

Two Iranian families with a novel mutation in GJB2 causing autosomal dominant nonsyndromic hearing loss.

scientific article published on 11 April 2011

Two frequent missense mutations in Pendred syndrome

scientific article

USH2 caused by GPR98 mutation diagnosed by massively parallel sequencing in advance of the occurrence of visual symptoms

scientific article

Unilateral laryngeal dysgenesis

scientific article published on 01 December 1998

Use of a three-dimensional magnetic sensor in vestibular testing

scientific article published on 01 January 1999

Use of portfolios in otolaryngology graduate medical education.

scientific article published on 11 April 2011

Using the phenome and genome to improve genetic diagnosis for deafness.

scientific article published on 11 July 2012

Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants.

scientific article published on 25 September 2014

Value-based pathology: a cost-benefit analysis of the examination of routine and nonroutine tonsil and adenoid specimens

scientific article published on 01 August 1997

Variants in CIB2 cause DFNB48 and not USH1J.

scientific article

Viral vector tropism for supporting cells in the developing murine cochlea.

scientific article

Vocal fold paralysis in infants twelve months of age and younger

scientific article published on 01 January 1996

miRNA mutations are not a common cause of deafness.

scientific article published in March 2010

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