Digital Comprehensive Summaries of Uppsala Dissertations from the Faculty of Medicine 286 Clinical and Genetic Studies of Hearing Impairment

[1]  L. Everett.  New insights into the role of pendrin (SLC26A4) in inner ear fluid homeostasis. , 2008, Novartis Foundation symposium.

[2]  D. Kaufmann,et al.  Role of NF2 Haploinsufficiency in NF2‐associated Polyneuropathy , 2007, Brain pathology.

[3]  D. Brackmann,et al.  Hearing preservation surgery for neurofibromatosis Type 2-related vestibular schwannoma in pediatric patients. , 2007, Journal of neurosurgery.

[4]  S. Merchant,et al.  Otopathology in Mohr‐Tranebjærg Syndrome , 2007, The Laryngoscope.

[5]  D. Welling,et al.  Cochlear Implantation in the Neurofibromatosis Type 2 Patient: Long‐Term Follow‐up , 2007, The Laryngoscope.

[6]  J. Lopez-Escamez,et al.  HLA-DRB1*1101 Allele May Be Associated With Bilateral Méniére's Disease in Southern European Population , 2007, Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology.

[7]  M. Takumida,et al.  Expressions of Aquaporin‐2, Vasopressin Type 2 Receptor, Transient Receptor Potential Channel Vanilloid (TRPV)1, and TRPV4 in the Human Endolymphatic Sac , 2007, The Laryngoscope.

[8]  D. Evans,et al.  Mosaicism in neurofibromatosis type 2: an update of risk based on uni/bilaterality of vestibular schwannoma at presentation and sensitive mutation analysis including multiple ligation-dependent probe amplification , 2007, Journal of Medical Genetics.

[9]  M. Eisen,et al.  Hearing molecules: contributions from genetic deafness , 2007, Cellular and Molecular Life Sciences.

[10]  M. Giovannini,et al.  Merlin/neurofibromatosis type 2 suppresses growth by inhibiting the activation of Ras and Rac. , 2007, Cancer research.

[11]  D. Welling,et al.  Regulation of the Neurofibromatosis 2 gene promoter expression during embryonic development , 2006, Developmental dynamics : an official publication of the American Association of Anatomists.

[12]  C. Ozdoba,et al.  Fabry's Disease: Otoneurologic Findings in Twelve Members of One Family , 2006, The Annals of otology, rhinology, and laryngology.

[13]  E. Boltshauser,et al.  Ophthalmologic findings and long-term course in patients with neurofibromatosis type 2. , 2006, American journal of ophthalmology.

[14]  C. Morton,et al.  Newborn hearing screening--a silent revolution. , 2006, The New England journal of medicine.

[15]  R. Friedman,et al.  Genetics of hearing loss: Allelism and modifier genes produce a phenotypic continuum. , 2006, The anatomical record. Part A, Discoveries in molecular, cellular, and evolutionary biology.

[16]  Saumil N Merchant,et al.  Cochlin immunostaining of inner ear pathologic deposits and proteomic analysis in DFNA9 deafness and vestibular dysfunction. , 2006, Human molecular genetics.

[17]  M. Baser.  The distribution of constitutional and somatic mutations in the neurofibromatosis 2 gene , 2006, Human mutation.

[18]  H. Zenner,et al.  Phenotypic characterization of a DFNA6 family showing progressive low-frequency sensorineural hearing impairment. , 2006, International journal of pediatric otorhinolaryngology.

[19]  D. Welling,et al.  The Molecular Biology of Vestibular Schwannomas: Dissecting the Pathogenic Process at the Molecular Level , 2006, Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology.

[20]  G. Marioni,et al.  Evolution of audiometric pattern in Meniere's disease: long-term survey of 380 cases evaluated according to the 1995 guidelines of the American Academy of Otolaryngology-Head and Neck Surgery. , 2006, The Journal of otolaryngology.

[21]  C. Sabatti,et al.  A genome-wide linkage scan of familial benign recurrent vertigo: linkage to 22q12 with evidence of heterogeneity. , 2006, Human molecular genetics.

[22]  Long-Sheng Chang,et al.  Evolution and origin of merlin, the product of the Neurofibromatosis type 2 (NF2) tumor-suppressor gene , 2005, BMC Evolutionary Biology.

[23]  N. Matsushiro,et al.  Ménière’s Disease Is Associated with Single Nucleotide Polymorphisms in the Human Potassium Channel Genes, KCNE1 and KCNE3 , 2005, ORL.

[24]  Q. Z. Li,et al.  AUNX1, a novel locus responsible for X linked recessive auditory and peripheral neuropathy, maps to Xq23–27.3 , 2005, Journal of Medical Genetics.

[25]  D. Evans,et al.  Age related shift in the mutation spectra of germline and somatic NF2 mutations: hypothetical role of DNA repair mechanisms , 2005, Journal of Medical Genetics.

[26]  D. Evans,et al.  The location of constitutional neurofibromatosis 2 (NF2) splice site mutations is associated with the severity of NF2 , 2005, Journal of Medical Genetics.

[27]  Fred H. Gage,et al.  Somatic mosaicism in neuronal precursor cells mediated by L1 retrotransposition , 2005, Nature.

[28]  J. Finsterer,et al.  Nuclear and mitochondrial genes mutated in nonsyndromic impaired hearing. , 2005, International journal of pediatric otorhinolaryngology.

[29]  D. Evans,et al.  Methodological issues in longitudinal studies: vestibular schwannoma growth rates in neurofibromatosis 2 , 2005, Journal of Medical Genetics.

[30]  M. Bondeson,et al.  The influence of genetic variation in oxidative stress genes on human noise susceptibility , 2005, Hearing Research.

[31]  David L. Steffen,et al.  The DNA sequence of the human X chromosome , 2005, Nature.

[32]  J. Bale,et al.  Sensorineural hearing loss in children , 2005, The Lancet.

[33]  G. Rance.  Auditory Neuropathy/Dys-synchrony and Its Perceptual Consequences , 2005, Trends in amplification.

[34]  A. Polizzi,et al.  Earliest Clinical Manifestations and Natural History of Neurofibromatosis Type 2 (NF2) in Childhood: A Study of 24 Patients* , 2005, Neuropediatrics.

[35]  D. Evans,et al.  Management of the patient and family with neurofibromatosis 2: a consensus conference statement , 2005, British journal of neurosurgery.

[36]  D. Evans,et al.  Incidence of Vestibular Schwannoma and Neurofibromatosis 2 in the North West of England over a 10-year Period: Higher Incidence than Previously Thought , 2005, Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology.

[37]  C. Sabatti,et al.  Suggestive linkage to chromosome 6q in families with bilateral vestibulopathy , 2004, Neurology.

[38]  Anil K. Lalwani,et al.  DFNA54, a third locus for low-frequency hearing loss , 2004, Journal of Molecular Medicine.

[39]  D. Evans,et al.  Genotype-phenotype correlations for nervous system tumors in neurofibromatosis 2: a population-based study. , 2004, American journal of human genetics.

[40]  A. B. Grayeli,et al.  Aquaporin-2 in the human endolymphatic sac , 2004, Acta oto-laryngologica.

[41]  Xiangyin Kong,et al.  Refinement of the locus for non-syndromic sensorineural deafness (DFN2) , 2004, Journal of Genetics.

[42]  T. Strom,et al.  New intragenic deletions in the Phex gene clarify X-linked hypophosphatemia-related abnormalities in mice , 2004, Mammalian Genome.

[43]  Jonathan Chernoff,et al.  NF2: The wizardry of merlin , 2003, Genes, chromosomes & cancer.

[44]  M. Lathrop,et al.  DFNA49, a novel locus for autosomal dominant non-syndromic hearing loss, maps proximal to DFNA7/DFNM1 region on chromosome 1q21-q23 , 2003, Journal of medical genetics.

[45]  G. Otting,et al.  Mutations in the COCH gene are a frequent cause of autosomal dominant progressive cochleo-vestibular dysfunction, but not of Meniere's disease , 2003, European Journal of Human Genetics.

[46]  S. Riazuddin,et al.  Recent Advances in the Understanding of Syndromic Forms of Hearing Loss , 2003, Ear and hearing.

[47]  B. Roe,et al.  Strong conservation of the human NF2 locus based on sequence comparison in five species , 2003, Mammalian Genome.

[48]  K. Brantberg.  Familial Early-onset Progressive Vestibulopathy Without Hearing Impairment , 2003, Acta oto-laryngologica.

[49]  M. Di Cicco,et al.  Double-blind, Randomized, Multicenter Study Comparing the Effect of Betahistine and Flunarizine on the Dizziness Handicap in Patients with Recurrent Vestibular Vertigo , 2003, Acta oto-laryngologica.

[50]  D. Evans,et al.  Exploring the “two‐hit hypothesis” in NF2: Tests of two‐hit and three‐hit models of vestibular schwannoma development , 2003, Genetic epidemiology.

[51]  R. Erickson.  Somatic gene mutation and human disease other than cancer. , 2003, Mutation research.

[52]  Stig Arlinger,et al.  Prevalence of hearing impairment in a population in Sweden , 2003 .

[53]  D. Evans,et al.  Evaluation of clinical diagnostic criteria for neurofibromatosis 2 , 2002, Neurology.

[54]  D. Evans,et al.  Predictors of the risk of mortality in neurofibromatosis 2. , 2002, American journal of human genetics.

[55]  Yinshan Zhao,et al.  Intrafamilial correlation of clinical manifestations in neurofibromatosis 2 (NF2) , 2002, Genetic epidemiology.

[56]  A. Lalwani,et al.  Auditory phenotype of DFNA1. , 2002, Advances in oto-rhino-laryngology.

[57]  R. Baker,et al.  Distribution of LINEs and other repetitive elements in the karyotype of the bat Carollia: implications for X-chromosome inactivation , 2002, Cytogenetic and Genome Research.

[58]  M. Barbara,et al.  Aquaporin-2 expression in the mammalian cochlea and investigation of its role in Meniere’s disease , 2002, Hearing Research.

[59]  A. W. Morrison,et al.  Genetics (molecular biology) and Meniere's disease. , 2002, Otolaryngologic clinics of North America.

[60]  A. Ludolph,et al.  Occurrence and characterization of peripheral nerve involvement in neurofibromatosis type 2. , 2002, Brain : a journal of neurology.

[61]  D. Evans,et al.  Molecular genetic analysis of the NF2 gene in young patients with unilateral vestibular schwannomas , 2002, Journal of medical genetics.

[62]  H. Rask-Andersen,et al.  Vascular Occlusion in the Endolymphatic Sac in Meniere's Disease , 2002, The Annals of otology, rhinology, and laryngology.

[63]  L. Kluwe,et al.  Vestibular schwannoma growth in patients with neurofibromatosis Type 2: a longitudinal study. , 2002, Journal of neurosurgery.

[64]  E. Makariou,et al.  Predictors of vestibular schwannoma growth in patients with neurofibromatosis Type 2. , 2002, Journal of neurosurgery.

[65]  S. Merchant,et al.  Histopathology and molecular genetics of hearing loss in the human. , 2001, International journal of pediatric otorhinolaryngology.

[66]  F. Moreno,et al.  A cysteine substitution in the zona pellucida domain of α-tectorin results in autosomal dominant, postlingual, progressive, mid frequency hearing loss in a Spanish family , 2001, Journal of medical genetics.

[67]  N. Meyer,et al.  Genomic structures of SCN2A and SCN3A - candidate genes for deafness at the DFNA16 locus. , 2001, Gene.

[68]  N. Patronas,et al.  Intramedullary and spinal canal tumors in patients with neurofibromatosis 2: MR imaging findings and correlation with genotype. , 2001, Radiology.

[69]  Y. Hirabayashi,et al.  A new case of α‐N‐acetylgalactosaminidase deficiency with angiokeratoma corporis diffusum, with Ménière's syndrome and without mental retardation , 2001, The British journal of dermatology.

[70]  J. T. Corwin,et al.  Intracellular Signals That Control Cell Proliferation in Mammalian Balance Epithelia: Key Roles for Phosphatidylinositol-3 Kinase, Mammalian Target of Rapamycin, and S6 Kinases in Preference to Calcium, Protein Kinase C, and Mitogen-Activated Protein Kinase , 2001, The Journal of Neuroscience.

[71]  T. Lenarz,et al.  Auditory brainstem implants: current neurosurgical experiences and perspective , 2000, The Journal of Laryngology & Otology.

[72]  A. Berns,et al.  Conditional biallelic Nf2 mutation in the mouse promotes manifestations of human neurofibromatosis type 2. , 2000, Genes & development.

[73]  G Van Camp,et al.  Familial progressive vestibulocochlear dysfunction caused by a COCH mutation (DFNA9). , 2000, Archives of neurology.

[74]  C. Cremers,et al.  Non-syndromic autosomal dominant progressive non-specific mid-frequency sensorineural hearing impairment with childhood to late adolescence onset (DFNA21). , 2000, Clinical otolaryngology and allied sciences.

[75]  J. Seidman,et al.  Hereditary postlingual sensorineural hearing loss mapping to chromosome Xq21. , 1999, The American journal of otology.

[76]  Y. Ninomiya,et al.  A gene for fluctuating, progressive autosomal dominant nonsyndromic hearing loss, DFNA16, maps to chromosome 2q23-24.3. , 1999, American journal of human genetics.

[77]  C. Bruder,et al.  A group of schwannomas with interstitial deletions on 22q located outside the NF2 locus shows no detectable mutations in the NF2 gene , 1999, Human Genetics.

[78]  R. Ramsden,et al.  Management of Neurofibromatosis Type 2 , 1999, Ear, nose, & throat journal.

[79]  V. Mautner,et al.  The diagnosis and management of neurofibromatosis 2 in childhood. , 1998, Seminars in pediatric neurology.

[80]  L. Pitts,et al.  Treatment of acoustic neuromas. , 1998, The New England journal of medicine.

[81]  A. Lalwani,et al.  A second family with nonsyndromic sensorineural hearing loss linked to Xp21.2: refinement of the DFN4 locus within DMD. , 1998, Genomics.

[82]  D. Kondziolka,et al.  Outcomes after gamma knife radiosurgery in solitary acoustic tumors and neurofibromatosis Type 2. , 1998, Neurosurgical focus.

[83]  D. Gutmann,et al.  Defects in neurofibromatosis 2 protein function can arise at multiple levels. , 1998, Human molecular genetics.

[84]  R. Murray,et al.  Cytomegalovirus Antibodies in Endolymphatic Sac Biopsies of Patients with Endolymphatic Hydrops and Ménière's Disease , 1997, Annals of the New York Academy of Sciences.

[85]  E. Vartiainen,et al.  Prevalence and etiology of bilateral sensorineural hearing impairment in a Finnish childhood population. , 1997, International journal of pediatric otorhinolaryngology.

[86]  M. J. Mulroy,et al.  Sensorineural Hearing Loss in themdx Mouse: A Model of Duchenne Muscular Dystrophy , 1997, The Laryngoscope.

[87]  B. Korf,et al.  The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2. , 1997, JAMA.

[88]  David F. Wilson,et al.  Molecular Analysis of the Pou3F4 Gene in Patients with Clinical and Radiographic Evidence of X-Linked Mixed Deafness with Perilymphatic Gusher , 1997, The Annals of otology, rhinology, and laryngology.

[89]  H. Rask-Andersen,et al.  “Endolymphatic Sacitis” in a Case of Active Meniere's Disease , 1997, The Annals of otology, rhinology, and laryngology.

[90]  M. Pembrey,et al.  Mapping of DFN2 to Xq22. , 1996, Human molecular genetics.

[91]  D. Vetrie,et al.  A novel X–linked gene, DDP, shows mutations in families with deafness (DFN–1), dystonia, mental deficiency and blindness , 1996, Nature Genetics.

[92]  S. Pulst,et al.  Phenotypic variability in monozygotic twins with neurofibromatosis 2. , 1996, American journal of medical genetics.

[93]  F. Moreno,et al.  A novel locus for non-syndromic sensorineural deafness (DFN6) maps to chromosome Xp22. , 1996, Human molecular genetics.

[94]  S. Pulst,et al.  A missense mutation in the neurofibromatosis 2 gene occurs in patients with mild and severe phenotypes , 1996, Neurology.

[95]  R. Weksberg,et al.  Type of mutation in the neurofibromatosis type 2 gene (NF2) frequently determines severity of disease. , 1996, American journal of human genetics.

[96]  S. Pulst,et al.  The neuroimaging and clinical spectrum of neurofibromatosis 2. , 1996, Neurosurgery.

[97]  F. Cremers,et al.  A duplication/paracentric inversion associated with familial X-linked deafness (DFN3) suggests the presence of a regulatory element more than 400 kb upstream of the POU3F4 gene. , 1995, Human molecular genetics.

[98]  H. Grosse-wilde,et al.  [Meniere disease as an autosome dominant hereditary disease]. , 1995, Laryngo- rhino- otologie.

[99]  A. W. Morrison,et al.  Anticipation in Menière's disease , 1995, The Journal of Laryngology & Otology.

[100]  M Bitner-Glindzicz,et al.  Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4 , 1995, Science.

[101]  J M Miller,et al.  Studies of Inner Ear Blood Flow in Animals and Human Beings , 1995, Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery.

[102]  A. Lalwani,et al.  A new nonsyndromic X-linked sensorineural hearing impairment linked to Xp21.2. , 1994, American journal of human genetics.

[103]  M I Kaiser-Kupfer,et al.  Neurofibromatosis 2 (NF2): clinical characteristics of 63 affected individuals and clinical evidence for heterogeneity. , 1994, American journal of medical genetics.

[104]  A. Monaco,et al.  X-linked mixed deafness (DFN3): cloning and characterization of the critical region allows the identification of novel microdeletions. , 1994, Human molecular genetics.

[105]  S. Pulst,et al.  Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2 , 1993, Nature.

[106]  M. Kaiser-Kupfer,et al.  Lens opacities in neurofibromatosis 2: further significant correlations. , 1993, The British journal of ophthalmology.

[107]  D. Bentley,et al.  The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases , 1993, Nature.

[108]  D. Evans,et al.  A genetic study of type 2 neurofibromatosis in the United Kingdom. II. Guidelines for genetic counselling. , 1992, Journal of medical genetics.

[109]  B. Proctor,et al.  Etiology and Treatment of Fluid Retention (Hydrops) in Ménière's Syndrome , 1992, Ear, nose, & throat journal.

[110]  D. Evans,et al.  A genetic study of type 2 neurofibromatosis in the United Kingdom. I. Prevalence, mutation rate, fitness, and confirmation of maternal transmission effect on severity. , 1992, Journal of medical genetics.

[111]  A. Martini,et al.  Menière's disease in congenital nephrogenic diabetes insipidus: report of two twins. , 1992, The American journal of otology.

[112]  A. Vahlne,et al.  Ménière's disease and antibody reactivity to herpes simplex virus type 1 polypeptides. , 1992, American journal of otolaryngology.

[113]  D. Evans,et al.  A clinical study of type 2 neurofibromatosis. , 1992, The Quarterly journal of medicine.

[114]  A. M. Braga,et al.  Meniere's Syndrome Inherited as an Autosomal Dominant Trait , 1992, The Annals of otology, rhinology, and laryngology.

[115]  D. Wellesley,et al.  A new form of X‐linked, high‐frequency, sensorineural deafness , 1992, Clinical genetics.

[116]  W. Reardon,et al.  A multipedigree linkage study of X-linked deafness: linkage to Xq13-q21 and evidence for genetic heterogeneity. , 1991, Genomics.

[117]  G. Ralli,et al.  Incidence of Menière's disease in Italy. , 1991, The American journal of otology.

[118]  W. House,et al.  Ultrastructural Evidence of a Merocrine Secretion in the Human Endolymphatic SAC , 1991, The Annals of otology, rhinology, and laryngology.

[119]  W. Reardon.  Sex linked deafness: Wilde revisited. , 1990, Journal of medical genetics.

[120]  W. House,et al.  Re-Evaluation of the Role of the Human Endolymphatic SAC in Meniere's Disease , 1990, Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery.

[121]  A. Davis,et al.  The prevalence of hearing impairment and reported hearing disability among adults in Great Britain. , 1989, International journal of epidemiology.

[122]  R Eldridge,et al.  Neurofibromatosis 2 (bilateral acoustic neurofibromatosis). , 1988, The New England journal of medicine.

[123]  J. Haines,et al.  Genetic linkage of bilateral acoustic neurofibromatosis to a DNA marker on chromosome 22 , 1987, Nature.

[124]  J. Stahle,et al.  Familial Menière's disease: a genetic investigation. , 1987, The American journal of otology.

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