Richard J Smith

Summary

Affiliation: University of Iowa
Country: USA

Publications

  1. ncbi request reprint Making sense of nonsyndromic deafness
    Richard J H Smith
    Department of Otolaryngology, 200 Hawkins Dr, University of Iowa, Iowa City, IA 52242, USA
    Arch Otolaryngol Head Neck Surg 129:405-6. 2003
  2. pmc Allelic variants of complement genes associated with dense deposit disease
    Maria Asuncion Abrera-Abeleda
    Interdisciplinary PhD Program in Genetics, University of Iowa, Iowa City, Iowa, USA
    J Am Soc Nephrol 22:1551-9. 2011
  3. pmc Familial atypical hemolytic uremic syndrome: a review of its genetic and clinical aspects
    Fengxiao Bu
    Interdepartmental PhD Program in Genetics, University of Iowa, Iowa City, IA 52242, USA
    Clin Dev Immunol 2012:370426. 2012
  4. pmc Pre-capture multiplexing improves efficiency and cost-effectiveness of targeted genomic enrichment
    A Eliot Shearer
    Department of Otolaryngology Head and Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA
    BMC Genomics 13:618. 2012
  5. pmc Solution-based targeted genomic enrichment for precious DNA samples
    Aiden Eliot Shearer
    Department of Otolaryngology Head and Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, IA, 52242, USA
    BMC Biotechnol 12:20. 2012
  6. pmc Reducing the exome search space for mendelian diseases using genetic linkage analysis of exome genotypes
    Katherine R Smith
    Bioinformatics Division, The Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Victoria 3052, Australia
    Genome Biol 12:R85. 2011
  7. pmc Causes of alternative pathway dysregulation in dense deposit disease
    Yuzhou Zhang
    Department of Otolaryngology Head and Neck Surgery, Caver College of Medicine, University of Iowa, 5270 CBRB Building, Iowa City, IA 52242, USA
    Clin J Am Soc Nephrol 7:265-74. 2012
  8. pmc Comparative linkage analysis and visualization of high-density oligonucleotide SNP array data
    Igor Leykin
    Department of Biostatistics, Harvard School of Public Health, Boston, MA 02115, USA
    BMC Genet 6:7. 2005
  9. ncbi request reprint New approaches to the treatment of dense deposit disease
    Richard J H Smith
    Department of Internal Medicine and Otolaryngology, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA
    J Am Soc Nephrol 18:2447-56. 2007
  10. ncbi request reprint Genetic screening for deafness
    Richard J H Smith
    Department of Otolaryngology, Molecular Otolaryngology Research Labs, University of Iowa, 200 Hawkins Drive, Iowa City, IA 52242, USA
    Pediatr Clin North Am 50:315-29. 2003

Detail Information

Publications100

  1. ncbi request reprint Making sense of nonsyndromic deafness
    Richard J H Smith
    Department of Otolaryngology, 200 Hawkins Dr, University of Iowa, Iowa City, IA 52242, USA
    Arch Otolaryngol Head Neck Surg 129:405-6. 2003
  2. pmc Allelic variants of complement genes associated with dense deposit disease
    Maria Asuncion Abrera-Abeleda
    Interdisciplinary PhD Program in Genetics, University of Iowa, Iowa City, Iowa, USA
    J Am Soc Nephrol 22:1551-9. 2011
    ..Alternative pathway activity was higher in the presence of variants associated with DDD. Taken together, these data confirm that DDD is a complex genetic disease and may provide targets for the development of disease-specific therapies...
  3. pmc Familial atypical hemolytic uremic syndrome: a review of its genetic and clinical aspects
    Fengxiao Bu
    Interdepartmental PhD Program in Genetics, University of Iowa, Iowa City, IA 52242, USA
    Clin Dev Immunol 2012:370426. 2012
    ..It is possible that a more detailed picture of aHUS can be translated to an improved understanding of disease penetrance, which is highly variable, and response to therapy, both in the short and long terms...
  4. pmc Pre-capture multiplexing improves efficiency and cost-effectiveness of targeted genomic enrichment
    A Eliot Shearer
    Department of Otolaryngology Head and Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA
    BMC Genomics 13:618. 2012
    ..Our overall goal was to maximize cost reduction and minimize experimental time while maintaining a high percentage of reads on target and a high depth of coverage at thresholds required for variant detection...
  5. pmc Solution-based targeted genomic enrichment for precious DNA samples
    Aiden Eliot Shearer
    Department of Otolaryngology Head and Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, IA, 52242, USA
    BMC Biotechnol 12:20. 2012
    ..These protocols could be improved by: 1) modifying or eliminating time consuming steps; 2) increasing yield to reduce input DNA and excessive PCR cycling; and 3) enhancing reproducible...
  6. pmc Reducing the exome search space for mendelian diseases using genetic linkage analysis of exome genotypes
    Katherine R Smith
    Bioinformatics Division, The Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Victoria 3052, Australia
    Genome Biol 12:R85. 2011
    ..We demonstrate that accurate genetic linkage mapping can be performed using SNP genotypes extracted from exome data, removing the need for separate array-based genotyping. We provide software to facilitate such analyses...
  7. pmc Causes of alternative pathway dysregulation in dense deposit disease
    Yuzhou Zhang
    Department of Otolaryngology Head and Neck Surgery, Caver College of Medicine, University of Iowa, 5270 CBRB Building, Iowa City, IA 52242, USA
    Clin J Am Soc Nephrol 7:265-74. 2012
    ..This study was designed to investigate the causes of alternative pathway dysregulation in a cohort of patients with dense deposit disease (DDD)...
  8. pmc Comparative linkage analysis and visualization of high-density oligonucleotide SNP array data
    Igor Leykin
    Department of Biostatistics, Harvard School of Public Health, Boston, MA 02115, USA
    BMC Genet 6:7. 2005
    ..For example, the haplotyping results are commonly represented in the text format...
  9. ncbi request reprint New approaches to the treatment of dense deposit disease
    Richard J H Smith
    Department of Internal Medicine and Otolaryngology, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA
    J Am Soc Nephrol 18:2447-56. 2007
    ..As the understanding of DDD increases, novel therapies should be integrated into existing protocols for DDD and evaluated using an open-label Bayesian study design...
  10. ncbi request reprint Genetic screening for deafness
    Richard J H Smith
    Department of Otolaryngology, Molecular Otolaryngology Research Labs, University of Iowa, 200 Hawkins Drive, Iowa City, IA 52242, USA
    Pediatr Clin North Am 50:315-29. 2003
    ....
  11. pmc Dense deposit disease
    Richard J H Smith
    Department of Internal Medicine, Division of Nephrology, Carver College of Medicine, University of Iowa, 21151 PFP, 200 Hawkins Drive, Iowa City, IA 52242, USA
    Mol Immunol 48:1604-10. 2011
    ..As advances are made in these areas, there will be a need to increase healthcare provider awareness of DDD by making resources available to clinicians to optimize care for DDD patients...
  12. doi request reprint Efficacy and safety of OK-432 immunotherapy of lymphatic malformations
    Mark C Smith
    Division of Otolaryngology Head and Neck Surgery, Dartmouth Hitchcock Medical Center, Lebanon, New Hampshire, USA
    Laryngoscope 119:107-15. 2009
    ..To determine the efficacy and safety of the immunostimulant OK-432 (Picibanil) as a treatment option in the management of children with cervicofacial lymphatic malformations...
  13. ncbi request reprint Clinical application of genetic testing for deafness
    Richard J H Smith
    Interdepartmental Genetics Program and Department of Otolaryngology, University of Iowa, Iowa City, Iowa 52242, USA
    Am J Med Genet A 130:8-12. 2004
    ..In this study, genetic testing of GJB2, SLC26A4 and WFS1 is reviewed...
  14. ncbi request reprint Lymphatic malformations
    Richard J H Smith
    Molecular Otolaryngology Research Laboratories, Department of Otolaryngology, University of Iowa, Iowa City, Iowa 52242, USA
    Lymphat Res Biol 2:25-31. 2004
    ..In this article, the embryology of the lymphatic system is reviewed, and the classification of lymphatic malformations and their natural history and treatment are discussed...
  15. ncbi request reprint Sensorineural hearing loss in children
    Richard J H Smith
    Molecular Otolaryngology Research Laboratories, Department of Otolaryngology, University of Iowa, Iowa City, IA, USA
    Lancet 365:879-90. 2005
    ....
  16. ncbi request reprint Branchio-oto-renal syndrome
    R J Smith
    Department of Otolaryngology, University of Iowa, Iowa City 52242, USA
    J Commun Disord 31:411-20; quiz 421. 1998
    ..The branchial manifestations usually are inconsequential, however the hearing impairment and renal malformations can be significant. The disease is caused by mutations in the EYA1 gene...
  17. ncbi request reprint Cloning genes for non-syndromal hearing impairment
    R J Smith
    Department of Otolaryngology Head and Neck Surgery, University of Iowa, Iowa City 52242, USA
    Br J Audiol 33:271-8. 1999
    ..This paper focuses on four general approaches: functional cloning, positional cloning, position-dependent candidate gene cloning, and position-independent candidate gene cloning...
  18. ncbi request reprint Cochlear implantation in deafness-dystonia-optic neuronopathy (DDON) syndrome
    James T Brookes
    Department of Surgery, Division of Pediatric Surgery, University of Calgary, Calgary, Alberta, Canada
    Int J Pediatr Otorhinolaryngol 72:121-6. 2008
    ..Further investigation is required to determine the efficacy of cochlear implantation in this patient population. DDON syndrome should be considered in patients with X-linked agammaglobulinemia and hearing loss...
  19. ncbi request reprint Deafness: from bedside to bench and back
    Richard J H Smith
    Molecular Otolaryngology Research Laboratories, Department of Otolaryngology, University of Iowa, Iowa City, IA 52242, USA
    Lancet 360:656-7. 2002
  20. ncbi request reprint Non-syndromic hearing impairment: gene linkage and cloning
    R J Smith
    Department of Otolaryngology, University of Iowa, Iowa City 52242, USA
    Int J Pediatr Otorhinolaryngol 49:S159-63. 1999
    ..A number of the relevant genes have been cloned. These advances are impacting clinical practice and revolutionizing our understanding of the biology of hearing...
  21. ncbi request reprint Genetic testing for deafness--GJB2 and SLC26A4 as causes of deafness
    Richard J H Smith
    Department of Otolaryngology, University of Iowa, Iowa City 52242, USA
    J Commun Disord 35:367-77. 2002
    ..It is also essential for physicians and audiologists to understand the limitations of genetic testing for deafness, and it is imperative that these limitations be appropriately explained to patients and their families...
  22. pmc Sensorineural deafness and male infertility: a contiguous gene deletion syndrome
    Yuzhou Zhang
    Molecular Otolaryngology Research Laboratories, Department of Otolaryngology, University of Iowa, Iowa City, Iowa 52240, USA
    J Med Genet 44:233-40. 2007
    ..Syndromic hearing loss that results from contiguous gene deletions is uncommon. Deafness-infertility syndrome (DIS) is caused by large contiguous gene deletions at 15q15.3...
  23. ncbi request reprint Identification of three novel TECTA mutations in Iranian families with autosomal recessive nonsyndromic hearing impairment at the DFNB21 locus
    Nicole C Meyer
    Department of Otolaryngology, University of Iowa Hospitals and Clinics, Iowa City, Iowa 52242, USA
    Am J Med Genet A 143:1623-9. 2007
    ..The truncating nature of these mutations is consistent with loss-of-function, and therefore the existing TECTA knockout mouse mutant represents a good model in which to study DFNB21-related deafness...
  24. ncbi request reprint GJB2: the spectrum of deafness-causing allele variants and their phenotype
    Hela Azaiez
    Department of Otolaryngology Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA
    Hum Mutat 24:305-11. 2004
    ..35delG carrier frequency in normal-hearing controls (P < 0.05), suggesting the existence of at least one other mutation outside the GJB2 coding region that does not complement GJB2 deafness-causing allele variants...
  25. ncbi request reprint Genomic structure, cochlear expression, and mutation screening of KCNK6, a candidate gene for DFNA4
    Anand N Mhatre
    Laboratory of Molecular Genetics, Epstein Laboratories, Department of Otolaryngology Head and Neck Surgery, University of California San Francisco, San Francisco, California, USA
    J Neurosci Res 75:25-31. 2004
    ....
  26. pmc Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4)
    Tao Yang
    Department of Otolaryngology Head and Neck, University of Iowa, Iowa City, IA 52242, USA
    Am J Hum Genet 80:1055-63. 2007
    ..These results support a novel dosage-dependent model for the molecular pathogenesis of PS and nonsyndromic EVA that involves SLC26A4 and its transcriptional regulatory machinery...
  27. pmc Autoimmune disease in a DFNA6/14/38 family carrying a novel missense mutation in WFS1
    Michael S Hildebrand
    Department of Otolaryngology, Head and Neck Surgery, University of Iowa, Iowa City, Iowa, USA
    Am J Med Genet A 146:2258-65. 2008
    ..R859Q) was identified in the C-terminal domain of the wolframin protein where most LFSNHL-causing mutations cluster. The family member with GD also carried polymorphisms in WFS1 that have been associated with other autoimmune diseases...
  28. ncbi request reprint Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations
    Sai Prasad
    Molecular Otolaryngology Research Laboratories, Department of Otolaryngology Head and Neck Surgery, University of Iowa Hospitals and Clinics, 200 Hawkins Drive, Iowa City, IA 52242, USA
    Am J Med Genet A 124:1-9. 2004
    ..We found DHPLC as accurate and reliable as direct sequencing but to be more rapid and cost effective. In addition, we report 11 novel disease-causing allele variants of SLC26A4...
  29. pmc Mutations in the first MyTH4 domain of MYO15A are a common cause of DFNB3 hearing loss
    A Eliot Shearer
    Department of Otolaryngology Head and Neck Surgery, University of Iowa, Iowa City, Iowa 52242, USA
    Laryngoscope 119:727-33. 2009
    ..To use clinical and genetic analyses to determine the mutation causing autosomal recessive nonsyndromic hearing loss (ARNSHL) segregating in two consanguineous Iranian families...
  30. pmc Genome-wide copy number variation analysis of a Branchio-oto-renal syndrome cohort identifies a recombination hotspot and implicates new candidate genes
    Patrick D Brophy
    Department of Pediatrics, University of Iowa Carver College of Medicine, Iowa City, IA, 52242, USA
    Hum Genet 132:1339-50. 2013
    ..Using a novel disease-gene prioritization strategy that includes network analysis of genes associated with other deletions suggests that SHARPIN (Sipl1), FGF3 and the HOXA gene cluster may contribute to the pathogenesis of BOR...
  31. ncbi request reprint Recurrent respiratory papillomatosis: pathogenesis to treatment
    John H Lee
    Department of Otolaryngology Head and Neck Surgery, University of Iowa, 200 Hawkins Drive, Iowa City, IA 52242, USA
    Curr Opin Otolaryngol Head Neck Surg 13:354-9. 2005
    ..The goals of this review are to update physicians on current understandings regarding viral pathogenesis, patient risks, and current trends in treatment strategies...
  32. ncbi request reprint Causes of facial swelling in pediatric patients: correlation of clinical and radiologic findings
    Geetika Khanna
    Department of Radiology, University of Iowa College of Medicine, 200 Hawkins Dr, Iowa City, IA 52242, USA
    Radiographics 26:157-71. 2006
    ....
  33. ncbi request reprint Genotype-phenotype correlations for SLC26A4-related deafness
    Hela Azaiez
    Molecular Otolaryngology Research Laboratories, Department of Otolaryngology Head and Neck Surgery, University of Iowa Hospitals and Clinics, 200 Hawkins Dr, Iowa City, IA 52242, USA
    Hum Genet 122:451-7. 2007
    ..For all patients, variability in the degree of hearing loss is seen across genotypes implicating other genetic and/or environmental factors in the pathogenesis of the PS-Mondini-EVA disease spectrum...
  34. doi request reprint Advances in molecular and cellular therapies for hearing loss
    Michael S Hildebrand
    Department of Otolaryngology Head and Neck Surgery, University of Iowa, Iowa City, Iowa 52242, USA
    Mol Ther 16:224-36. 2008
    ..We explore the advantages and limitations associated with the use of these strategies for inner ear restoration...
  35. ncbi request reprint Gene expression profiling analysis of the inner ear
    Michael S Hildebrand
    Department of Otolaryngology Head and Neck Surgery, University of Iowa, Iowa City, IA 52242, USA
    Hear Res 225:1-10. 2007
    ..This approach also provides a framework to assist and direct the functional characterization of gene products...
  36. ncbi request reprint Molecular characterization of a novel X-linked syndrome involving developmental delay and deafness
    Michael S Hildebrand
    Department of Otolaryngology, Head and Neck Surgery, University of Iowa, Iowa City, Iowa 52242, USA
    Am J Med Genet A 143:2564-75. 2007
    ..Although the causative gene at the MR locus in this family has not been identified, there are a number of genes involved in syndromic and nonsyndromic forms of MR that are potential candidates...
  37. ncbi request reprint Pediatric otolaryngologists' use of genetic testing
    Ryan D Duncan
    Department of Surgery, University of Alabama at Birmingham, USA
    Arch Otolaryngol Head Neck Surg 133:231-6. 2007
    ..To assess the use of genetic testing by pediatric otolaryngologists in evaluating a child with prelingual sensorineural hearing impairment (SNHI)...
  38. pmc Audioprofile-directed screening identifies novel mutations in KCNQ4 causing hearing loss at the DFNA2 locus
    Michael S Hildebrand
    Department of Otolaryngology Head and Neck Surgery, University of Iowa, Iowa City, IA 52242, USA
    Genet Med 10:797-804. 2008
    ..To address this challenge, we have developed a machine learning-based software tool, AudioGene v2.0, to prioritize candidate genes for mutation screening based on audioprofiling...
  39. ncbi request reprint Deletion of and novel missense mutation in POU3F4 in 2 families segregating X-linked nonsyndromic deafness
    Abram P Vore
    Molecular Otolaryngology Research Laboratories, Department of Otolaryngology Head and Neck Surgery, The University of Iowa, Iowa City 52242, USA
    Arch Otolaryngol Head Neck Surg 131:1057-63. 2005
    ..To analyze the physical manifestations and genetic features of 2 families segregating X-linked deafness, which is most commonly reported to be caused by mutations of the POU domain gene POU3F4 at the DFN3 locus...
  40. pmc A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration
    Gregory S Hageman
    Department of Ophthalmology and Visual Sciences, Cell Biology and Functional Genomics Laboratory, University of Iowa, Iowa City, IA 52240, USA
    Proc Natl Acad Sci U S A 102:7227-32. 2005
    ..We propose that genetic variation in a regulator of the alternative complement pathway, when combined with a triggering event, such as infection, underlie a major proportion of AMD in the human population...
  41. doi request reprint Mentoring in otolaryngology training programs
    Richard K Gurgel
    Department of Otolaryngology Head and Neck Surgery, University of Iowa, Iowa City, IA 52242, USA
    Otolaryngol Head Neck Surg 142:487-92. 2010
    ..It is unknown how otolaryngology training programs mentor residents. Our objective was to determine the current state of mentoring in otolaryngology training programs and describe resident perceptions of mentoring...
  42. ncbi request reprint Treatment of lymphangiomas with OK-432 (Picibanil) sclerotherapy: a prospective multi-institutional trial
    Chantal M Giguere
    Department of Otolaryngology, The University of Iowa, Iowa City 52242, USA
    Arch Otolaryngol Head Neck Surg 128:1137-44. 2002
    ..To describe and to determine the robustness of our study evaluating the efficacy of OK-432 (Picibanil) as a therapeutic modality for lymphangiomas...
  43. ncbi request reprint A novel splice site mutation in EYA4 causes DFNA10 hearing loss
    Michael S Hildebrand
    Department of Otolaryngology Head and Neck Surgery, University of Iowa, Iowa City, Iowa 52242, USA
    Am J Med Genet A 143:1599-604. 2007
    ..Detailed clinical investigation showed differences in the onset and severity of his hearing loss and thus he is presumed to represent a phenocopy, perhaps resulting from long-term exposure to loud noise...
  44. pmc miRNA mutations are not a common cause of deafness
    Michael S Hildebrand
    Department of Otolaryngology Head and Neck Surgery, University of Iowa, Iowa City, Iowa 52242, USA
    Am J Med Genet A 152:646-52. 2010
    ..These results suggest that mutations disrupting gene regulation by the miR-183 cluster are not a common cause of human hearing loss...
  45. doi request reprint Current treatment paradigms in the management of lymphatic malformations
    John P Renton
    Department of Otolaryngology Head and Neck Surgery, University of Iowa, Iowa City, Iowa, USA
    Laryngoscope 121:56-9. 2011
    ..The development of treatments that are effective for all types of LMs will require further understanding of lymphangiogenesis and the pathogenesis of LMs...
  46. pmc Carcinoembryonic antigen-related cell adhesion molecule 16 interacts with alpha-tectorin and is mutated in autosomal dominant hearing loss (DFNA4)
    Jing Zheng
    Department of Otolaryngology Head and Neck Surgery, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA
    Proc Natl Acad Sci U S A 108:4218-23. 2011
    ..In aggregate, these data identify CEACAM16 as an α-tectorin-interacting protein that concentrates at the point of attachment of the TM to the stereocilia and, when mutated, results in ADNSHL at the DFNA4 locus...
  47. ncbi request reprint Refining the DFNB17 interval in consanguineous Indian families
    Yingshi Guo
    Center for Hearing and Deafness Research, Department of Otolaryngology, Cincinnati, Children s Hospital Cincinnati, OH, USA
    Mol Biol Rep 31:97-105. 2004
    ..Analysis of coding and splice site regions of these cochlear expressed genes did not reveal any disease causing mutations. Further study of other candidate genes is currently underway...
  48. ncbi request reprint New treatment options for lymphangioma in infants and children
    Chantal M Giguere
    Department of Otolaryngology Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, Iowa 52242, USA
    Ann Otol Rhinol Laryngol 111:1066-75. 2002
    ..We provide a complete review of the diagnostic measures available and thoroughly discuss new therapeutic interventions proposed to treat lymphangiomas...
  49. ncbi request reprint Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome
    Tara K Maga
    Interdepartmental PhD Program in Genetics, Division of Nephrology, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA
    Hum Mutat 31:E1445-60. 2010
    ..Twelve percent (12%) of patients carrying disease-associated genetic variants segregated mutations in more than one gene mandating comprehensive genetic testing in the diagnosis and management of these patients...
  50. pmc A comparative study of Eya1 and Eya4 protein function and its implication in branchio-oto-renal syndrome and DFNA10
    Yuzhou Zhang
    Molecular Otolaryngology Research Laboratories, University of Iowa, Iowa City, IA 52242, USA
    J Assoc Res Otolaryngol 5:295-304. 2004
    ..These results are consistent with clinical data and implicate haploinsufficiency as the cause of BOR syndrome and DFNA10...
  51. ncbi request reprint Clinical presentation of DFNB1
    Wyman T McGuirt
    Molecular Otolaryngology Research Laboratories, Department of Otolaryngology Head and Neck Surgery, University of Iowa, Iowa City, Iowa, USA
    Adv Otorhinolaryngol 61:113-9. 2002
  52. ncbi request reprint The Coxsackievirus and Adenovirus Receptor: a new adhesion protein in cochlear development
    Katherine J D A Excoffon
    Department of Internal Medicine, Division of Pulmonary Medicine, University of Iowa, 440 EMRB, Iowa City, IA 52242, USA
    Hear Res 215:1-9. 2006
    ....
  53. pmc Performance of cochlear implant recipients with GJB2-related deafness
    Glenn E Green
    Molecular Otolaryngology Research Laboratories, Department of Otolaryngology Head and Neck Surgery, University of Iowa, Iowa City, Iowa 52242, USA
    Am J Med Genet 109:167-70. 2002
    ..Effective rehabilitation for profoundly deaf individuals with GJB2-related deafness is possible through cochlear implantation...
  54. ncbi request reprint In vitro and in vivo suppression of GJB2 expression by RNA interference
    Yukihide Maeda
    Molecular Otolaryngology Research Laboratory, Department of Otolaryngology Head and Neck Surgery, Interdepartmental Ph D Genetics Program, The University of Iowa, 200 Hawkins Drive 21151 PFP, Iowa City, IA 52242, USA
    Hum Mol Genet 14:1641-50. 2005
    ..Our data show that RNAi can be used with specificity and efficiency in vivo to protect against hearing loss caused as a dominant-negative consequence of mutant gene expression...
  55. doi request reprint SIX1 mutation screening in 247 branchio-oto-renal syndrome families: a recurrent missense mutation associated with BOR
    Amit Kochhar
    Doris Duke Clinical Research Fellowship, Head and Neck Surgery, University of Iowa, Iowa City, IA 52242, USA
    Hum Mutat 29:565. 2008
    ..Seven of the eight known SIX1 mutations are missense and the one in frame deletion is predicted to be functionally similar. The wide phenotypic variability precludes making genotype-phenotype correlations at this time...
  56. ncbi request reprint Genetic heterogeneity of deafness phenotypes linked to DFNA4
    Tao Yang
    Department of Otolaryngology Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, Iowa 52242, USA
    Am J Med Genet A 139:9-12. 2005
    ..The newly defined candidate region encompasses a region of approximately 19 cM. Several candidate genes have been screened for disease-causing mutations...
  57. pmc Mutations in Grxcr1 are the basis for inner ear dysfunction in the pirouette mouse
    Hana Odeh
    Department of Otolaryngology, Kresge Hearing Research Institute, University of Michigan Medical School, Ann Arbor, MI 48109, USA
    Am J Hum Genet 86:148-60. 2010
    ..Our results suggest that deafness in pirouette mutants is associated with loss of GRXCR1 function in modulating actin cytoskeletal architecture in the developing stereocilia of sensory hair cells...
  58. doi request reprint Treatment options for C3 glomerulopathy
    Carla M Nester
    Departments of Internal Medicine and Pediatrics, University of Iowa, Iowa City, Iowa, USA
    Curr Opin Nephrol Hypertens 22:231-7. 2013
    ..The purpose of this review is to discuss emerging nomenclature, review the salient clinicopathological features and describe the therapeutic options available for the treatment of C3 glomerulopathy (C3G)...
  59. ncbi request reprint Selective cochlear degeneration in mice lacking the F-box protein, Fbx2, a glycoprotein-specific ubiquitin ligase subunit
    Rick F Nelson
    Medical Scientist Training Program, University of Iowa Roy J and Lucille A Carver College of Medicine, Iowa City, Iowa 52242, USA
    J Neurosci 27:5163-71. 2007
    ..Our findings demonstrate that components of protein quality control are essential for inner ear homeostasis and implicate Fbx2 and Skp1 as potential genetic modifiers in age-related hearing loss...
  60. pmc A claudin-9-based ion permeability barrier is essential for hearing
    Yoko Nakano
    Department of Anatomy and Cell Biology, University of Iowa, Iowa City, Iowa, USA
    PLoS Genet 5:e1000610. 2009
    ..Thus, the analysis of claudin-9 mutant mice suggests that even the deeper (subapical) tight-junction strands have biologically important ion barrier function...
  61. ncbi request reprint Branchio-oto-renal syndrome: the mutation spectrum in EYA1 and its phenotypic consequences
    Eugene H Chang
    Molecular Otolaryngology Research Labs, University of Iowa, Iowa City, Iowa 52242, USA
    Hum Mutat 23:582-9. 2004
    ..We conclude that genetic testing of EYA1 should include analysis of the coding sequence and a screen for complex rearrangements...
  62. ncbi request reprint Prestin, a cochlear motor protein, is defective in non-syndromic hearing loss
    Xue Zhong Liu
    Department of Otolaryngology, University of Miami, Miami, FL 33101, USA
    Hum Mol Genet 12:1155-62. 2003
    ..Finally, the observation of this mutation only in the Caucasian probands indicated an association with a specific ethnic background. This study thereby reveals an essential function of prestin in human auditory processing...
  63. ncbi request reprint The role of connexins in human disease
    Eugene H Chang
    Molecular Otolaryngology Research Laboratories, Dept of Otolaryngology, University of Iowa, USA
    Ear Hear 24:314-23. 2003
    ..This discovery has impacted medical practice and makes it incumbent on clinicians to familiarize themselves with the genetic advances that are rapidly occurring in our field...
  64. ncbi request reprint The effect of GJB2 allele variants on performance after cochlear implantation
    Paul W Bauer
    Department of Otolaryngology Head and Neck Surgery, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX 75390 9035, USA
    Laryngoscope 113:2135-40. 2003
    ..To test this hypothesis, the authors identified pediatric cochlear implant recipients with gap junction protein beta2 (GJB2)-related deafness. The study examines performance outcomes associated with GJB2 deafness-causing allele variants...
  65. pmc Eculizumab for dense deposit disease and C3 glomerulonephritis
    Andrew S Bomback
    Department of Medicine, Division of Nephrology, Columbia University Medical Center, New York, New York, USA
    Clin J Am Soc Nephrol 7:748-56. 2012
    ..Eculizumab, a monoclonal antibody that binds to C5 to prevent formation of the membrane attack complex, may prove beneficial...
  66. pmc Gene expression analysis of human otosclerotic stapedial footplates
    Megan Ealy
    Molecular Otolaryngology Research Laboratories, Department of Otolaryngology, Pediatrics and Internal Medicine, Division of Nephrology, 200 Hawkins Drive 21151 PFP, University of Iowa, Iowa City, IA, USA
    Hear Res 240:80-6. 2008
    ..Functional analyses of genes from this study will enhance our understanding of the pathogenesis of this disease...
  67. pmc Therapeutic regulation of gene expression in the inner ear using RNA interference
    Yukihide Maeda
    Molecular Otolaryngology Research Laboratories, Department of Otolaryngology, Head and Neck Surgery, Iowa City, Iowa 52242 1009, USA
    Adv Otorhinolaryngol 66:13-36. 2009
    ..Transduction efficiency with cationic liposomes is low and the effect is transient; with adeno-associated and lentiviral vectors, long-term transfection is possible using a small hairpin RNA expression cassette...
  68. ncbi request reprint The genetics of otosclerosis
    Megan Ealy
    Molecular Otolaryngology Research Laboratories, Department of Otolaryngology, University of Iowa, 200 Hawkins Drive, Iowa City, IA 52242, USA
    Hear Res 266:70-4. 2010
    ..The goal of this paper is to review the genetics of otosclerosis and to provide insight into studies that could be performed to elucidate disease pathogenesis...
  69. doi request reprint Polymorphisms in KCNE1 or KCNE3 are not associated with Ménière disease in the Caucasian population
    Colleen A Campbell
    Molecular Otolaryngology Research Laboratories, Department of Otolaryngology Head and Neck Surgery, University of Iowa, Iowa City, IA 52242, USA
    Am J Med Genet A 152:67-74. 2010
    ..Population stratification within our MD and Caucasian control population was excluded. Our data show that SNPs in KCNE1 and KCNE3 are not associated with MD in Caucasians...
  70. ncbi request reprint Medical evaluation of pediatric hearing loss. Laboratory, radiographic, and genetic testing
    Stephen W Hone
    Department of Pediatric Otolaryngology HNS, University of Iowa Hospitals and Clinics, 21201 PFP, 200 Hawkins Drive, Iowa City, IA 52242, USA
    Otolaryngol Clin North Am 35:751-64. 2002
    ..It is important to understand the implications and pitfalls of genetic testing. Genetic counseling is necessary...
  71. ncbi request reprint Case of progressive dysplasia concomitant with intralesional cidofovir administration for recurrent respiratory papillomatosis
    Richard D Wemer
    Department of Otolaryngology Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA
    Ann Otol Rhinol Laryngol 114:836-9. 2005
    ....
  72. doi request reprint Monitoring stress levels in postgraduate medical training
    Justin D Hill
    Department of Otolaryngology Head and Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, Iowa 52242 1078, USA
    Laryngoscope 119:75-8. 2009
    ....
  73. doi request reprint A novel deletion in the RCA gene cluster causes atypical hemolytic uremic syndrome
    Tara K Maga
    Department of Internal Medicine, Carver College of Medicine, University of Iowa, Iowa City, IA, USA
    Nephrol Dial Transplant 26:739-41. 2011
    ..Tests of AP function in this patient suggested additional genetic factors, and in-depth studies revealed a de novo heterozygous deletion that creates a novel CFH/CFHR1 fusion protein...
  74. ncbi request reprint Clinical aspects of hereditary hearing loss
    Amit Kochhar
    Molecular Otolaryngology Research Laboratories, University of Iowa, Iowa City, Iowa 52242, USA
    Genet Med 9:393-408. 2007
    ..The aim of this review is to provide a comprehensive framework underlying the causes of hearing impairment and to detail the clinical management for patients with hereditary hearing loss...
  75. ncbi request reprint Hearing loss in Union Army veterans from 1862 to 1920
    Ryan K Sewell
    Department of Otolaryngology Head and Neck Surgery, Carver College of Medicine, University of Iowa, Iowa City, IA 52242 1113, USA
    Laryngoscope 114:2147-53. 2004
    ..To examine the prevalence of hearing loss (HL) in Union Army (UA) veterans by year, birth cohort, and occupation, and to compare Civil War pension and contemporary disability programs by examining monthly dollar awards...
  76. ncbi request reprint Degrees of dysplasia and the use of cidofovir in patients with recurrent respiratory papillomatosis
    Hina T Gupta
    Department of Otolaryngology, University of Iowa Hospitals and Clinics, Iowa City, Iowa 52242, USA
    Laryngoscope 120:698-702. 2010
    ..This study aims to explore the association between increasing degree of papilloma dysplasia and the use of cidofovir in the context of the natural progression of dysplasia in RRP...
  77. ncbi request reprint RT-PCR analysis of Tecta, Coch, Eya4 and Strc in mouse cochlear explants
    Yukihide Maeda
    Molecular Otolaryngology Research Laboratory, Department of Otolaryngology, The University of Iowa Hospitals and Clinics, Iowa City, IA 52242, USA
    Neuroreport 16:361-5. 2005
    ..Expression of these genes was detectable even after 96 h. These results suggest that it is feasible to test the expression of inner ear specific genes in explanted cochleae...
  78. ncbi request reprint Branchio-oto-renal syndrome
    Amit Kochhar
    Molecular Otolaryngology Research Laboratories, University of Iowa, Iowa City, Iowa 52242, USA
    Am J Med Genet A 143:1671-8. 2007
    ..Further evaluation of SIX1 and its related target genes may provide a better understanding of the pathophysiology of BOR syndrome and offer greater clues to the disease mechanisms...
  79. ncbi request reprint A forward genetics screen in mice identifies recessive deafness traits and reveals that pejvakin is essential for outer hair cell function
    Martin Schwander
    Department of Cell Biology, Institute for Childhood and Neglected Disease, The Scripps Research Institute, La Jolla, California 92037, USA
    J Neurosci 27:2163-75. 2007
    ....
  80. ncbi request reprint Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease
    Kim Cryns
    Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
    Hum Mutat 22:275-87. 2003
    ..In this paper, we provide an overview of the currently known disease-causing and benign allele variants of WFS1 and propose a potential genotype-phenotype correlation for Wolfram syndrome and LFSNHI...
  81. ncbi request reprint Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus
    Shahid Y Khan
    National Centre of Excellence in Molecular Biology, Punjab University, Lahore, Pakistan
    Hum Mutat 28:417-23. 2007
    ..Further, high-resolution confocal microscopy in mouse inner ear demonstrates that radixin is expressed along the length of stereocilia of hair cells from both the organ of Corti and the vestibular system...
  82. ncbi request reprint DFNA10/EYA4--the clinical picture
    Els M R De Leenheer
    Department of Otorhinolaryngology, University Medical Centre Nijmegen, The Netherlands
    Adv Otorhinolaryngol 61:73-8. 2002
  83. ncbi request reprint High-throughput screening for GJB2 mutations--its clinical application to genetic testing in prelingual deafness screening for GJB2 mutations
    Akemi Sugata
    Okayama University Medical School, Department of Otolaryngology, Head and Neck Surgery, 2 5 1 Shikata cho, 700 8558 Okayama, Japan
    Auris Nasus Larynx 29:231-9. 2002
    ..This article describes a rapid and high-throughput screening procedure for the detection of one-base deletion/substitution in GJB2 with less invasive sampling procedure in the implication for the clinical application...
  84. pmc Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus
    Sadaf Naz
    Section on Human Genetics, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD, 20850, USA
    Am J Hum Genet 71:632-6. 2002
    ..TMIE encodes a protein with 156 amino acids and exhibits no significant nucleotide or deduced amino acid sequence similarity to any other gene...
  85. ncbi request reprint Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations
    Kim Cryns
    Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, B 2610 Antwerp, Belgium
    Hum Genet 110:389-94. 2002
    ..In contrast, 64% of the Wolfram syndrome mutations are inactivating. Our results indicate that only non-inactivating mutations in WFS1 are responsible for non-syndromic low-frequency hearing impairment...
  86. ncbi request reprint Searching for evidence of DFNB2
    Lisa M Astuto
    Gene Marker Laboratory, Boys Town National Research Hospital, Omaha, Nebraska 68131, USA
    Am J Med Genet 109:291-7. 2002
    ..These negative results and the isolated reports of DFNB2 bring into question whether certain MYO7A mutations produce nonsyndromic recessive hearing loss...
  87. ncbi request reprint GJB2 mutations in Iranians with autosomal recessive non-syndromic sensorineural hearing loss
    Hossein Najmabadi
    Genetic Research Center, Welfare Science and Rehabilitation University, Tehran, Iran
    Hum Mutat 19:572. 2002
    ..Because the relative frequency of Cx26 mutations is much less than in the other populations, it is possible that mutations in other genes play a major role in ARNSD in Iran...
  88. ncbi request reprint Cochlear implantation and Pendred's syndrome mutation in monozygotic twins with large vestibular aqueduct syndrome
    Allan Vescan
    Department of Otolaryngology, University of Western Ontario, London Health Sciences Centre
    J Otolaryngol 31:54-7. 2002
  89. pmc Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study
    Ignacio del Castillo
    Unidad de Genetica Molecular, Hospital Ramon y Cajal, Madrid, Spain
    Am J Hum Genet 73:1452-8. 2003
    ..These results have important implications for the diagnosis and counseling of families with DFNB1 deafness...
  90. ncbi request reprint Characterisation of DRASIC in the mouse inner ear
    Michael S Hildebrand
    Department of Gene Identification and Expression, Murdoch Childrens Research Institute, Royal Children s Hospital, Flemington Road, Parkville, VIC 3052, Australia
    Hear Res 190:149-60. 2004
    ..The human homologue of ACCN3, acid-sensing ion channel 3, maps to the same chromosomal region as the autosomal recessive hearing loss locus DFNB13. However, we did not detect mutations in this gene in a family with DFNB13 hearing loss...
  91. ncbi request reprint Hearing genes and cisplatin deafness: a pilot study
    Christine Knoll
    Division of Pediatric Hematology Oncology, University of North Carolina School of Medicine, Chapel Hill, North Carolina 27599 7220, USA
    Laryngoscope 116:72-4. 2006
    ..We hypothesized that mutations or polymorphisms in hearing genes are more common in patients who experience ototoxicity than in the general population...
  92. pmc GJB2 mutations and degree of hearing loss: a multicenter study
    Rikkert L Snoeckx
    Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, B 2610 Antwerp, Belgium
    Am J Hum Genet 77:945-57. 2005
    ..Two genotypes--35delG/R143W (median 105 dB) and 35delG/dela(GJB6-D13S1830) (median 108 dB)--had significantly more-severe HI than that of 35delG homozygotes...
  93. ncbi request reprint A novel DFNA5 mutation does not cause hearing loss in an Iranian family
    Lut Van Laer
    Department of Medical Genetics, University of Antwerp, Campus Drie Eiken, Universiteitsplein 1, B 2610, Antwerp, Belgium
    J Hum Genet 52:549-52. 2007
    ..This fact provides further support for the hypothesis that DFNA5-associated hearing loss is caused by a gain-of-function mutation...
  94. ncbi request reprint Mice lacking Dfna5 show a diverging number of cochlear fourth row outer hair cells
    Lut Van Laer
    Department of Medical Genetics, University of Antwerp, Campus Drie Eiken, Universiteitsplein 1, B 2610 Antwerp, Belgium
    Neurobiol Dis 19:386-99. 2005
    ..In contrast to the results obtained in Dfna5-/- zebrafish, we did not observe different UDP-glucose dehydrogenase and hyaluronic acid levels in Dfna5-/- mice when compared to Dfna5+/+ mice...
  95. ncbi request reprint In reference to temporal bone imaging in GJB2 deafness
    Hela Azaiez
    Laryngoscope 117:1127; author reply 1127-9. 2007
  96. ncbi request reprint GJB2 mutations in Baluchi population
    Anoosh Naghavi
    Research Center for Infectious Diseases and Tropical Medicine, Zahedan University of Medical Sciences, Zahedan 98135, Iran
    J Genet 87:195-7. 2008
  97. ncbi request reprint GJB2 mutations: passage through Iran
    Hossein Najmabadi
    Genetics Research Center, The Social Welfare and Rehabilitation Sciences University, Koodakyar Street, Daneshjoo Boulevard, Evin, Tehran, Iran
    Am J Med Genet A 133:132-7. 2005
    ..Delta(GJB6-D13S1830) was not found. Our prevalence data for GJB2-related deafness reveal a geographic pattern that mirrors the south-to-north European gradient and supports a founder effect in southeastern Europe...
  98. ncbi request reprint The coding polymorphism T263I in TGF-beta1 is associated with otosclerosis in two independent populations
    Melissa Thys
    Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
    Hum Mol Genet 16:2021-30. 2007
    ....
  99. pmc Impairment of SLC17A8 encoding vesicular glutamate transporter-3, VGLUT3, underlies nonsyndromic deafness DFNA25 and inner hair cell dysfunction in null mice
    Jérôme Ruel
    INSERM U 583, Institut des Neurosciences, Hopital Saint Eloi, 34091 Montpellier, France Université Montpellier 1, 34091 Montpellier, France
    Am J Hum Genet 83:278-92. 2008
    ..We conclude that deafness in Slc17a8-deficient mice is due to a specific defect of vesicular glutamate uptake and release and that VGLUT3 is essential for auditory coding at the IHC synapse...
  100. ncbi request reprint A novel TECTA mutation confirms the recognizable phenotype among autosomal recessive hearing impairment families
    Fatemeh Alasti
    Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
    Int J Pediatr Otorhinolaryngol 72:249-55. 2008
    ..On the basis of the recognizable phenotype, we recommend mutation screening of TECTA in families with this hearing phenotype...

Research Grants39

  1. Non-Syndromic Hearing Loss -- A Collaborative Study
    Richard J Smith; Fiscal Year: 2010
    ..To date 77 loci have been identified and 28 causally-related genes have been cloned. Studying these genes will increase our understanding of deafness, improve patient care, and ultimately lead to novel methods of treating ARNSD. ..
  2. Non-Syndromic Hearing Loss -- A Collaborative Study
    Richard Smith; Fiscal Year: 2005
    ....
  3. Non-Syndromic Hearing Loss -- A Collaborative Study
    Richard Smith; Fiscal Year: 2009
    ..To date 77 loci have been identified and 28 causally-related genes have been cloned. Studying these genes will increase our understanding of deafness, improve patient care, and ultimately lead to novel methods of treating ARNSD. ..
  4. Autosomal Dominant Non-Syndromic Hearing Loss
    Richard Smith; Fiscal Year: 2006
    ..deletion of Coil 1a2 (Coil la2-/-and a second mutant that recapitulates the DFNA1 3 genotype (Coil 1a2 Arg549Cys);(4) To offer genetic counseling to select families with autosomal dominant non-syndromic hearing loss ..
  5. Non-Syndromic Hearing Loss -- A Collaborative Study
    Richard Smith; Fiscal Year: 2006
    ....
  6. Non-Syndromic Hearing Loss: A Collaborative Study
    Richard Smith; Fiscal Year: 2004
    ....
  7. NON-SYNDROMIC HEARING LOSS--A COLLABORATIVE STUDY
    Richard Smith; Fiscal Year: 2002
    ....
  8. Autosomal Dominant Non-Syndromic Hearing Loss
    Richard Smith; Fiscal Year: 2004
    ..deletion of Coil 1a2 (Coil la2-/-and a second mutant that recapitulates the DFNA1 3 genotype (Coil 1a2 Arg549Cys);(4) To offer genetic counseling to select families with autosomal dominant non-syndromic hearing loss ..
  9. A Collaborative Study of Membranoproliferative Glomerulonephritis Type II
    Richard Smith; Fiscal Year: 2007
    ..Specific Aim 3: To examine the hypothesis that exogenous murine Factor H (mFH) can rescue the MPGNII/DDD phenotype in the Factor H deficient mouse (C/ft-/-) ..
  10. Autosomal Dominant Non-Syndromic Hearing Loss
    Richard Smith; Fiscal Year: 2005
    ..deletion of Coil 1a2 (Coil la2-/-and a second mutant that recapitulates the DFNA1 3 genotype (Coil 1a2 Arg549Cys);(4) To offer genetic counseling to select families with autosomal dominant non-syndromic hearing loss ..
  11. Non-Syndromic Hearing Loss -- A Collaborative Study
    Richard Smith; Fiscal Year: 2007
    ....
  12. Otosclerosis-A Molecular Genetic Study
    Richard Smith; Fiscal Year: 2006
    ....
  13. NON-SYNDROMIC HEARING LOSS--A COLLABORATIVE STUDY
    Richard Smith; Fiscal Year: 2003
    ....
  14. Otosclerosis-A Molecular Genetic Study
    Richard Smith; Fiscal Year: 2003
    ....
  15. AUTOSOMAL DOMINANT NONSYNDROMIC HEARING LOSS
    Richard Smith; Fiscal Year: 1999
    ..This knowledge will foster the development of studies in gene- gene interactions, gene environment interactions, and ultimately, therapeutic intervention to prevent progression of some forms of hearing impairment. ..
  16. NONSYNDROMIC HEARING LOSS--A COLLABORATIVE STUDY
    Richard Smith; Fiscal Year: 1999
    ..Appropriate mouse mutants will be identified, permitting studies in development, gene-gene interactions, and ultimately, therapeutic intervention. ..
  17. A Collaborative Study of Membranoproliferative Glomerulonephritis Type II
    Richard Smith; Fiscal Year: 2009
    ..Specific Aim 3: To examine the hypothesis that exogenous murine Factor H (mFH) can rescue the MPGNII/DDD phenotype in the Factor H deficient mouse (C/ft-/-) ..
  18. Autosomal Dominant Non-Syndromic Hearing Loss
    Richard Smith; Fiscal Year: 2009
    ..Completion of these specific aims will not only increase our understanding of the pathogenesis of deafness, but will be highly translational by targeting small families segregating ADNSHL. ..
  19. AUTOSOMAL DOMINANT NONSYNDROMIC HEARING LOSS
    Richard Smith; Fiscal Year: 2001
    ..This knowledge will foster the development of studies in gene- gene interactions, gene environment interactions, and ultimately, therapeutic intervention to prevent progression of some forms of hearing impairment. ..
  20. Otosclerosis-A Molecular Genetic Study
    Richard Smith; Fiscal Year: 2002
    ....
  21. AUTOSOMAL DOMINANT NONSYNDROMIC HEARING LOSS
    Richard Smith; Fiscal Year: 2001
    ..This knowledge will foster the development of studies in gene- gene interactions, gene environment interactions, and ultimately, therapeutic intervention to prevent progression of some forms of hearing impairment. ..
  22. Autosomal Dominant Non-Syndromic Hearing Loss
    Richard Smith; Fiscal Year: 2003
    ..deletion of Coil 1a2 (Coil la2-/-and a second mutant that recapitulates the DFNA1 3 genotype (Coil 1a2 Arg549Cys);(4) To offer genetic counseling to select families with autosomal dominant non-syndromic hearing loss ..
  23. Hinxton Retreat Workshop on Membranoproliferative Glomerulonephritis Type II
    Richard Smith; Fiscal Year: 2006
    ....
  24. Otosclerosis-A Molecular Genetic Study
    Richard Smith; Fiscal Year: 2005
    ....
  25. NON-SYNDROMIC HEARING LOSS--A COLLABORATIVE STUDY
    Richard Smith; Fiscal Year: 2000
    ....
  26. Membranoproliferative Glomerulonephritis Workshop
    Richard Smith; Fiscal Year: 2004
    ..abstract_text> ..
  27. A Collaborative Study of Membranoproliferative Glomerulonephritis Type II
    Richard J Smith; Fiscal Year: 2010
    ..Specific Aim 3: To examine the hypothesis that exogenous murine Factor H (mFH) can rescue the MPGNII/DDD phenotype in the Factor H deficient mouse (C/ft-/-) ..
  28. Autosomal Dominant Non-Syndromic Hearing Loss
    Richard J Smith; Fiscal Year: 2010
    ..Completion of these specific aims will not only increase our understanding of the pathogenesis of deafness, but will be highly translational by targeting small families segregating ADNSHL. ..
  29. AUTOSOMAL DOMINANT NONSYNDROMIC HEARING LOSS
    Richard Smith; Fiscal Year: 2000
    ..This knowledge will foster the development of studies in gene- gene interactions, gene environment interactions, and ultimately, therapeutic intervention to prevent progression of some forms of hearing impairment. ..
  30. NON-SYNDROMIC HEARING LOSS--A COLLABORATIVE STUDY
    Richard Smith; Fiscal Year: 2001
    ....
  31. Autosomal Dominant Non-Syndromic Hearing Loss
    Richard Smith; Fiscal Year: 2002
    ..deletion of Coil 1a2 (Coil la2-/-and a second mutant that recapitulates the DFNA1 3 genotype (Coil 1a2 Arg549Cys);(4) To offer genetic counseling to select families with autosomal dominant non-syndromic hearing loss ..
  32. Otosclerosis-A Molecular Genetic Study
    Richard Smith; Fiscal Year: 2004
    ....