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Wyszukujesz frazę ""Hearing Loss, Sensorineural"" wg kryterium: Temat


Tytuł :
Prevalence of Otological Disease in Turner Syndrome: A Systematic Review.
Autorzy :
Geerardyn A; Department of Otorhinolaryngology, Head and Neck Surgery.; Department Neurosciences, ExpORL, KU Leuven, University of Leuven, Leuven, Belgium.
Willaert A; Department of Otorhinolaryngology, Head and Neck Surgery.
Decallonne B; Department of Endocrinology, University Hospitals Leuven.; Department of Chronic Diseases and Metabolism.
Desloovere C; Department of Otorhinolaryngology, Head and Neck Surgery.; Department Neurosciences, ExpORL, KU Leuven, University of Leuven, Leuven, Belgium.
Verhaert N; Department of Otorhinolaryngology, Head and Neck Surgery.; Department Neurosciences, ExpORL, KU Leuven, University of Leuven, Leuven, Belgium.
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Źródło :
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology [Otol Neurotol] 2021 Aug 01; Vol. 42 (7), pp. 953-958.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't; Systematic Review
MeSH Terms :
Hearing Loss*
Hearing Loss, Sensorineural*/epidemiology
Hearing Loss, Sensorineural*/etiology
Turner Syndrome*/complications
Turner Syndrome*/epidemiology
Female ; Hearing Loss, Conductive/epidemiology ; Hearing Loss, Conductive/etiology ; Humans ; Prevalence ; Prospective Studies
Czasopismo naukowe
Tytuł :
Profound Sudden Sensorineural Hearing Loss in Hematologic Malignancy: A Case for Urgent Cochlear Implantation With Discussion and Systematic Review of the Literature.
Autorzy :
Dumberger LD; Division of Neurotology & Lateral Skull Base Surgery, Department of Otolaryngology-Head and Neck Surgery, Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania.
Hwa TP
Panara K
Husain S
Yver C
Bigelow DC
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Źródło :
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology [Otol Neurotol] 2021 Aug 01; Vol. 42 (7), pp. e815-e824.
Typ publikacji :
Journal Article; Systematic Review
MeSH Terms :
Cochlear Implantation*
Hearing Loss, Sensorineural*/etiology
Hearing Loss, Sensorineural*/surgery
Hematologic Neoplasms*
Hearing ; Hearing Loss, Bilateral/surgery ; Humans
Czasopismo naukowe
Tytuł :
In Response to The Challenges of Pharmacotherapy of SARS-CoV-2 Infection in Patients with Sudden Sensorineural Hearing Loss Due to COVID-19.
Autorzy :
Little C; Department of Otolaryngology-Head and Neck Surgery, Icahn School of Medicine at Mount Sinai, New York, U.S.A.
Cosetti MK; Department of Otolaryngology-Head and Neck Surgery, Icahn School of Medicine at Mount Sinai, New York, U.S.A.; Ear Institute, New York Eye and Ear Infirmary of Mount Sinai, New York, U.S.A.
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Źródło :
The Laryngoscope [Laryngoscope] 2021 Jul; Vol. 131 (7), pp. E2336. Date of Electronic Publication: 2021 Mar 17.
Typ publikacji :
Letter; Comment
MeSH Terms :
COVID-19*
Hearing Loss, Sensorineural*/drug therapy
Hearing Loss, Sensorineural*/etiology
Hearing Loss, Sudden*/drug therapy
Hearing Loss, Sudden*/etiology
Ototoxicity*
Humans ; SARS-CoV-2
Opinia redakcyjna
Tytuł :
Exome Sequencing for Isolated Congenital Hearing Loss: A Cost-Effectiveness Analysis.
Autorzy :
Downie L; Victorian Clinical Genetics Services, Melbourne, Victoria, Australia.; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Royal Children's Hospital, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.
Amor DJ; Victorian Clinical Genetics Services, Melbourne, Victoria, Australia.; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Royal Children's Hospital, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.
Halliday J; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.
Lewis S; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.
Martyn M; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Melbourne Genomics Health Alliance, Melbourne, Victoria, Australia.
Goranitis I; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Centre for Health Policy, University of Melbourne, Melbourne, Victoria, Australia.; Australian Genomics Health Alliance, Melbourne, Victoria, Australia.
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Źródło :
The Laryngoscope [Laryngoscope] 2021 Jul; Vol. 131 (7), pp. E2371-E2377. Date of Electronic Publication: 2020 Dec 31.
Typ publikacji :
Journal Article; Observational Study; Research Support, Non-U.S. Gov't
MeSH Terms :
Cost-Benefit Analysis*
Genetic Testing/*economics
Hearing Loss, Sensorineural/*diagnosis
Standard of Care/*economics
Whole Exome Sequencing/*economics
Australia ; Female ; Genetic Testing/methods ; Genetic Testing/statistics & numerical data ; Health Care Costs/statistics & numerical data ; Hearing Loss, Sensorineural/congenital ; Hearing Loss, Sensorineural/genetics ; Hearing Loss, Sensorineural/therapy ; Humans ; Infant ; Male ; Standard of Care/statistics & numerical data ; Whole Exome Sequencing/statistics & numerical data
Czasopismo naukowe
Tytuł :
Auditory dysfunction in type 2 Stickler Syndrome.
Autorzy :
Alexander P; Vitreoretinal Service, Box 41, Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust, Hills Road, Cambridge, CB2 0QQ, UK.; NHS England Stickler Syndrome Diagnostic Service, Box 153, Cambridge University NHS Foundation Trust, Hills Road, Cambridge, CB2 0QQ, UK.
Gomersall P; Ear, Nose and Throat (ENT) West Wing, Oxford Auditory Implant Programme, John Radcliffe Hospital, Oxford, OX3 9DU, UK.
Stancel-Lewis J; NHS England and NHS Improvement, Wellington House 33-155 Waterloo Road, London, SE1 8UG, UK.
Fincham GS; Vitreoretinal Service, Box 41, Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust, Hills Road, Cambridge, CB2 0QQ, UK.; NHS England Stickler Syndrome Diagnostic Service, Box 153, Cambridge University NHS Foundation Trust, Hills Road, Cambridge, CB2 0QQ, UK.
Poulson A; Vitreoretinal Service, Box 41, Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust, Hills Road, Cambridge, CB2 0QQ, UK.; NHS England Stickler Syndrome Diagnostic Service, Box 153, Cambridge University NHS Foundation Trust, Hills Road, Cambridge, CB2 0QQ, UK.
Richards A; Department of Pathology, University of Cambridge, Cambridge, CB2 1QP, UK.; Regional Molecular Genetics Laboratory, Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust, Hills Road, Cambridge, CB2 0QQ, UK.
McNinch A; NHS England Stickler Syndrome Diagnostic Service, Box 153, Cambridge University NHS Foundation Trust, Hills Road, Cambridge, CB2 0QQ, UK.; Department of Pathology, University of Cambridge, Cambridge, CB2 1QP, UK.; Regional Molecular Genetics Laboratory, Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust, Hills Road, Cambridge, CB2 0QQ, UK.
Baguley DM; National Institute for Health Research (NIHR) Nottingham Biomedical Research Centre, Nottingham, NG1 5DU, UK. .; Hearing Sciences, Division of Clinical Neuroscience, School of Medicine, University of Nottingham, Nottingham, NG7 2UH, UK. .; Nottingham Audiology Services, Nottingham University NHS Trust, Nottingham, NG1 3DU, UK. .; Nottingham Biomedical Research Centre, Ropewalk House, 113 Ropewalk, Nottingham, NG1 5DU, UK. .
Snead M; Vitreoretinal Service, Box 41, Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust, Hills Road, Cambridge, CB2 0QQ, UK.; NHS England Stickler Syndrome Diagnostic Service, Box 153, Cambridge University NHS Foundation Trust, Hills Road, Cambridge, CB2 0QQ, UK.
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Źródło :
European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery [Eur Arch Otorhinolaryngol] 2021 Jul; Vol. 278 (7), pp. 2261-2268. Date of Electronic Publication: 2020 Sep 08.
Typ publikacji :
Journal Article
MeSH Terms :
Connective Tissue Diseases*
Diabetes Mellitus, Type 2*
Hearing Loss, Sensorineural*/diagnosis
Hearing Loss, Sensorineural*/genetics
Retinal Detachment*
Animals ; Arthritis ; Collagen Type XI/genetics ; Female ; Mice ; Mutation
SCR Disease Name :
Stickler syndrome, type 1
Czasopismo naukowe
Tytuł :
Binaural hearing restoration with a bilateral fully implantable middle ear implant.
Autorzy :
Cuda D; Department of Otorhinolaryngology, 'Guglielmo da Saliceto' Hospital of Piacenza, Via Cantone del Cristo 40, 29121, Piacenza, Italy.
Murri A; Department of Otorhinolaryngology, 'Guglielmo da Saliceto' Hospital of Piacenza, Via Cantone del Cristo 40, 29121, Piacenza, Italy. .
Mainardi A; Department of Otorhinolaryngology, 'Guglielmo da Saliceto' Hospital of Piacenza, Via Cantone del Cristo 40, 29121, Piacenza, Italy.
Forli F; ENT Audiology and Phoniatric Unit, University Hospital of Pisa, Pisa, Italy.
Berrettini S; ENT Audiology and Phoniatric Unit, University Hospital of Pisa, Pisa, Italy.
Bruschini L; ENT Audiology and Phoniatric Unit, University Hospital of Pisa, Pisa, Italy.
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Źródło :
European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery [Eur Arch Otorhinolaryngol] 2021 Jul; Vol. 278 (7), pp. 2239-2246. Date of Electronic Publication: 2020 Aug 24.
Typ publikacji :
Journal Article
MeSH Terms :
Hearing Loss, Sensorineural*/diagnosis
Hearing Loss, Sensorineural*/surgery
Ossicular Prosthesis*
Speech Perception*
Hearing ; Humans ; Retrospective Studies ; Treatment Outcome
Czasopismo naukowe
Tytuł :
Enlarged vestibular aqueduct and Mondini Malformation: audiological, clinical, radiologic and genetic features.
Autorzy :
Forli F; Otolaryngology, Audiology and Phoniatrics Unit, University of Pisa, Pisa, Italy. .
Lazzerini F; Otolaryngology, Audiology and Phoniatrics Unit, University of Pisa, Pisa, Italy.
Auletta G; UOC Audiologia, DAI Testa Collo, AOU Federico II, Naples, Italy.
Bruschini L; Otolaryngology, Audiology and Phoniatrics Unit, University of Pisa, Pisa, Italy.
Berrettini S; Otolaryngology, Audiology and Phoniatrics Unit, University of Pisa, Pisa, Italy.; Department of Clinical Science, Intervention and Technology, Karolinska Institutet, Stockholm, Sweden.
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Źródło :
European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery [Eur Arch Otorhinolaryngol] 2021 Jul; Vol. 278 (7), pp. 2305-2312. Date of Electronic Publication: 2020 Sep 10.
Typ publikacji :
Journal Article
MeSH Terms :
Audiology*
Hearing Loss, Sensorineural*/diagnostic imaging
Hearing Loss, Sensorineural*/genetics
Vestibular Aqueduct*/abnormalities
Vestibular Aqueduct*/diagnostic imaging
Humans ; Membrane Transport Proteins/genetics ; Mutation ; Retrospective Studies ; Sulfate Transporters/genetics
SCR Disease Name :
Deafness, Autosomal Recessive 4
Czasopismo naukowe
Tytuł :
In Reference to The Challenges of Pharmacotherapy of SARS-CoV-2 Infection in Patients With Sudden Sensorineural Hearing Loss Due to COVID-19.
Autorzy :
Narozny W; Department of Otolaryngology, Gdansk Medical University, Gdansk, Poland.
Tretiakow D; Department of Otolaryngology, Gdansk Medical University, Gdansk, Poland.
Skorek A; Department of Otolaryngology, Gdansk Medical University, Gdansk, Poland.
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Źródło :
The Laryngoscope [Laryngoscope] 2021 Jul; Vol. 131 (7), pp. E2335. Date of Electronic Publication: 2021 Mar 17.
Typ publikacji :
Letter; Comment
MeSH Terms :
COVID-19*
Hearing Loss, Sensorineural*/drug therapy
Hearing Loss, Sensorineural*/etiology
Hearing Loss, Sudden*/drug therapy
Hearing Loss, Sudden*/etiology
Ototoxicity*
Humans ; SARS-CoV-2
Opinia redakcyjna
Tytuł :
[Progress of research on cone beam CT in cochlear implantation].
Autorzy :
Huang J
Xia W
Tang X
Tan S
Tang A
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Źródło :
Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology, head, and neck surgery [Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi] 2021 Jun; Vol. 35 (6), pp. 567-572.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Cochlear Implantation*
Cochlear Implants*
Hearing Loss, Sensorineural*/diagnostic imaging
Hearing Loss, Sensorineural*/surgery
Cone-Beam Computed Tomography ; Humans ; Temporal Bone/surgery
Czasopismo naukowe
Tytuł :
A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans.
Autorzy :
Vona B; Institute of Human Genetics, Julius Maximilians University Würzburg, Würzburg, Germany. .; Department of Otolaryngology-Head and Neck Surgery, Tübingen Hearing Research Centre, Eberhard Karls University Tübingen, Tübingen, Germany. .
Mazaheri N; Department of Genetics, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.
Lin SJ; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA.
Dunbar LA; Mammalian Genetics Unit, MRC Harwell Institute, Harwell Campus, Didcot, OX11 0RD, UK.
Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
Azaiez H; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology and Interdisciplinary Graduate Program in Molecular Medicine, Carver College of Medicine, University of Iowa, Iowa City, IA, USA.
Booth KT; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology and Interdisciplinary Graduate Program in Molecular Medicine, Carver College of Medicine, University of Iowa, Iowa City, IA, USA.; Department of Neurobiology, Harvard Medical School, Boston, MA, USA.
Vitry S; Unit Progressive Sensory Disorders, Pathophysiology and Therapy Institut Pasteur, Institut de L'Audition, INSERM-UMRS1120, Sorbonne Université, 63 rue de Charenton, 75012, Paris, France.
Rad A; Department of Otolaryngology-Head and Neck Surgery, Tübingen Hearing Research Centre, Eberhard Karls University Tübingen, Tübingen, Germany.
Rüschendorf F; Max Delbrück Center for Molecular Medicine in the Helmholtz Association, 13125, Berlin, Germany.
Varshney P; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA.
Fowler B; Imaging & Histology Core, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA.
Beetz C; Centogene AG, Rostock, Germany.
Alagramam KN; Department of Otolaryngology, School of Medicine, University Hospitals Cleveland Medical Center, Case Western Reserve University, 11100 Euclid Avenue, Cleveland, OH, 44106, USA.; Department of Neurosciences, Case Western Reserve University, 11100 Euclid Avenue, Cleveland, OH, 44106, USA.; Department of Genetics and Genomic Sciences, Case Western Reserve University, Cleveland, OH, 44106, USA.
Murphy D; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
Shariati G; Department of Medical Genetics, Faculty of Medicine, Ahvaz Jundishapur, University of Medical Sciences, Ahvaz, Iran.; Narges Medical Genetics and Prenatal Diagnostics Laboratory, East Mihan Ave, Kianpars, Ahvaz, Iran.
Sedaghat A; Diabetes Research Center, Health Research Institute, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
Houlden H; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
Petree C; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA.
VijayKumar S; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA.
Smith RJH; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology and Interdisciplinary Graduate Program in Molecular Medicine, Carver College of Medicine, University of Iowa, Iowa City, IA, USA.
Haaf T; Institute of Human Genetics, Julius Maximilians University Würzburg, Würzburg, Germany.
El-Amraoui A; Unit Progressive Sensory Disorders, Pathophysiology and Therapy Institut Pasteur, Institut de L'Audition, INSERM-UMRS1120, Sorbonne Université, 63 rue de Charenton, 75012, Paris, France.
Bowl MR; Mammalian Genetics Unit, MRC Harwell Institute, Harwell Campus, Didcot, OX11 0RD, UK. .; UCL Ear Institute, University College London, 332 Gray's Inn Road, London, WC1X 8EE, UK. .
Varshney GK; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA.
Galehdari H; Department of Genetics, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.
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Źródło :
Human genetics [Hum Genet] 2021 Jun; Vol. 140 (6), pp. 915-931. Date of Electronic Publication: 2021 Jan 26.
Typ publikacji :
Journal Article
MeSH Terms :
Amino Acid Substitution*
Point Mutation*
Chromosomes, Human, Pair 4/*chemistry
Hair Cells, Auditory, Inner/*metabolism
Hearing Loss, Sensorineural/*genetics
Membrane Proteins/*genetics
Tetraspanins/*genetics
Adult ; Alleles ; Animals ; Base Sequence ; Chromosome Mapping ; Consanguinity ; Female ; Gene Expression ; Genes, Recessive ; Hair Cells, Auditory, Inner/pathology ; Hearing Loss, Sensorineural/metabolism ; Hearing Loss, Sensorineural/pathology ; Humans ; Male ; Membrane Proteins/deficiency ; Mice ; Pedigree ; Tetraspanins/deficiency ; Whole Exome Sequencing ; Zebrafish
Czasopismo naukowe
Tytuł :
Risk of Sensorineural Hearing Loss in Patulous Eustachian Tube.
Autorzy :
Masuda M; Department of Otolaryngology, Kyorin University School of Medicine, Mitaka-shi, Tokyo, Japan.
Morita M
Matsuda T
Nakamura T
Matsumoto J
Miyama Y
Kasakura-Kimura N
Kohno N
Saito K
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Źródło :
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology [Otol Neurotol] 2021 Jun 01; Vol. 42 (5), pp. e521-e529.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Eustachian Tube*/diagnostic imaging
Hearing Loss, Sensorineural*/diagnostic imaging
Hearing Loss, Sensorineural*/epidemiology
Hearing Loss, Sensorineural*/etiology
Otitis Media*
Hearing ; Humans ; Retrospective Studies
Czasopismo naukowe
Tytuł :
PIGF deficiency causes a phenotype overlapping with DOORS syndrome.
Autorzy :
Salian S; Department of Pediatrics, CHU Sainte-Justine Research Center, University of Montreal, 3175, Côte-Sainte-Catherine, Montreal, QC, H3T 1C5, Canada.
Benkerroum H; Department of Pediatrics, CHU Sainte-Justine Research Center, University of Montreal, 3175, Côte-Sainte-Catherine, Montreal, QC, H3T 1C5, Canada.
Nguyen TTM; Department of Pediatrics, CHU Sainte-Justine Research Center, University of Montreal, 3175, Côte-Sainte-Catherine, Montreal, QC, H3T 1C5, Canada.
Nampoothiri S; Pediatric Genetics, Amrita Institute of Medical Sciences and Research Centre (AIMS), Kochi, 682041, India.
Kinoshita T; Yabumoto Department of Intractable Disease Research, Research Institute for Microbial Diseases, Osaka University, Suita, Osaka, 565-0871, Japan.
Félix TM; Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Porto Alegre, Brazil.
Stewart F; Northern Ireland Regional Genetics Centre, Belfast, BT97AB, Northern Ireland.
Sisodiya SM; NIHR University College London Hospitals Biomedical Research Centre, UCL Queen Square Institute of Neurology, Queen Square, London, WC1N 3BG, UK.
Murakami Y; Yabumoto Department of Intractable Disease Research, Research Institute for Microbial Diseases, Osaka University, Suita, Osaka, 565-0871, Japan.
Campeau PM; Department of Pediatrics, CHU Sainte-Justine Research Center, University of Montreal, 3175, Côte-Sainte-Catherine, Montreal, QC, H3T 1C5, Canada. .
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Źródło :
Human genetics [Hum Genet] 2021 Jun; Vol. 140 (6), pp. 879-884. Date of Electronic Publication: 2021 Jan 02.
Typ publikacji :
Journal Article
MeSH Terms :
Mutation, Missense*
Craniofacial Abnormalities/*genetics
Glycosylphosphatidylinositols/*deficiency
Hand Deformities, Congenital/*genetics
Hearing Loss, Sensorineural/*genetics
Intellectual Disability/*genetics
Membrane Proteins/*genetics
Nails, Malformed/*genetics
Seizures/*genetics
Adolescent ; Amino Acid Sequence ; Animals ; Consanguinity ; Craniofacial Abnormalities/metabolism ; Craniofacial Abnormalities/pathology ; Female ; Gene Expression ; Glycosylphosphatidylinositols/genetics ; Glycosylphosphatidylinositols/metabolism ; HEK293 Cells ; Hand Deformities, Congenital/metabolism ; Hand Deformities, Congenital/pathology ; Hearing Loss, Sensorineural/metabolism ; Hearing Loss, Sensorineural/pathology ; Homozygote ; Humans ; Infant ; Intellectual Disability/metabolism ; Intellectual Disability/pathology ; Male ; Membrane Proteins/deficiency ; Nails, Malformed/metabolism ; Nails, Malformed/pathology ; Seizures/metabolism ; Seizures/pathology ; Sequence Alignment ; Whole Exome Sequencing
SCR Disease Name :
Digitorenocerebral Syndrome; Glycosylphosphatidylinositol deficiency
Czasopismo naukowe
Tytuł :
Scalar Translocation Comparison Between Lateral Wall and Perimodiolar Cochlear Implant Arrays - A Meta-Analysis.
Autorzy :
Jwair S; Department of Otorhinolaryngology and Head & Neck Surgery, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.; UMC Utrecht Brain Center, Utrecht University, Utrecht, The Netherlands.
Prins A; Department of Otorhinolaryngology and Head & Neck Surgery, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
Wegner I; Department of Otorhinolaryngology and Head & Neck Surgery, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
Stokroos RJ; Department of Otorhinolaryngology and Head & Neck Surgery, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.; UMC Utrecht Brain Center, Utrecht University, Utrecht, The Netherlands.
Versnel H; Department of Otorhinolaryngology and Head & Neck Surgery, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.; UMC Utrecht Brain Center, Utrecht University, Utrecht, The Netherlands.
Thomeer HGXM; Department of Otorhinolaryngology and Head & Neck Surgery, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.; UMC Utrecht Brain Center, Utrecht University, Utrecht, The Netherlands.
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Źródło :
The Laryngoscope [Laryngoscope] 2021 Jun; Vol. 131 (6), pp. 1358-1368. Date of Electronic Publication: 2020 Nov 07.
Typ publikacji :
Comparative Study; Journal Article; Meta-Analysis; Research Support, Non-U.S. Gov't; Systematic Review
MeSH Terms :
Cochlear Implants*
Cochlear Implantation/*instrumentation
Hearing/*physiology
Hearing Loss, Bilateral/*physiopathology
Hearing Loss, Sensorineural/*physiopathology
Cochlea/surgery ; Cochlear Implantation/methods ; Female ; Hearing Loss, Bilateral/diagnostic imaging ; Hearing Loss, Bilateral/surgery ; Hearing Loss, Sensorineural/diagnostic imaging ; Hearing Loss, Sensorineural/surgery ; Hearing Tests ; Humans ; Male ; Middle Aged ; Postoperative Period ; Scala Tympani/diagnostic imaging ; Scala Tympani/physiopathology ; Scala Tympani/surgery ; Speech Perception ; Tomography, X-Ray Computed ; Treatment Outcome
Czasopismo naukowe
Tytuł :
Diagnostic and therapeutic caveats in Griscelli syndrome.
Autorzy :
Castaño-Jaramillo LM; Clinical Immunology Department, Instituto Nacional de Pediatria, Mexico City, Mexico.
Lugo-Reyes SO; Immunodeficiencies Research Unit, Instituto Nacional de Pediatria, Mexico City, Mexico.
Cruz Muñoz ME; Molecular Immunology Laboratory. Faculty of Medicine, Universidad Autonoma del Estado de Morelos, Cuernavaca, Mexico.
Scheffler-Mendoza SC; Clinical Immunology Department, Instituto Nacional de Pediatria, Mexico City, Mexico.
Duran McKinster C; Dermatology Department, Instituto Nacional de Pediatria, Mexico City, Mexico.
Yamazaki-Nakashimada MA; Clinical Immunology Department, Instituto Nacional de Pediatria, Mexico City, Mexico.
Espinosa-Padilla SE; Immunodeficiencies Research Unit, Instituto Nacional de Pediatria, Mexico City, Mexico.
Saez-de-Ocariz Gutierrez MDM; Dermatology Department, Instituto Nacional de Pediatria, Mexico City, Mexico.
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Źródło :
Scandinavian journal of immunology [Scand J Immunol] 2021 Jun; Vol. 93 (6), pp. e13034. Date of Electronic Publication: 2021 Mar 20.
Typ publikacji :
Journal Article; Meta-Analysis; Review
MeSH Terms :
Hearing Loss, Sensorineural/*diagnosis
Hearing Loss, Sensorineural/*therapy
Lymphohistiocytosis, Hemophagocytic/*diagnosis
Lymphohistiocytosis, Hemophagocytic/*therapy
Piebaldism/*diagnosis
Piebaldism/*therapy
Pigmentation Disorders/*diagnosis
Pigmentation Disorders/*therapy
Primary Immunodeficiency Diseases/*diagnosis
Primary Immunodeficiency Diseases/*therapy
Biomarkers ; Biopsy ; Disease Management ; Disease Susceptibility/immunology ; Genetic Predisposition to Disease ; Hearing Loss, Sensorineural/etiology ; Humans ; Lymphohistiocytosis, Hemophagocytic/etiology ; Mutation ; Phenotype ; Piebaldism/etiology ; Pigmentation Disorders/etiology ; Primary Immunodeficiency Diseases/etiology ; Prognosis
SCR Disease Name :
Griscelli syndrome type 1; Griscelli syndrome type 2; Griscelli syndrome type 3
Czasopismo naukowe
Tytuł :
Recessive LOXHD1 variants cause a prelingual down-sloping hearing loss: genotype-phenotype correlation and three additional children with novel variants.
Autorzy :
Yu S; Department of Otolaryngology-Head and Neck Surgery, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Chen WX; Department of Otolaryngology-Head and Neck Surgery, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Zhang YF; Department of Otolaryngology-Head and Neck Surgery, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Chen C; Department of Otolaryngology-Head and Neck Surgery, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Ni Y; Department of Otolaryngology-Head and Neck Surgery, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Duan B; Department of Otolaryngology-Head and Neck Surgery, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Wang H; Center for Molecular Medicine, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China. Electronic address: .
Xu ZM; Department of Otolaryngology-Head and Neck Surgery, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China. Electronic address: .
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Źródło :
International journal of pediatric otorhinolaryngology [Int J Pediatr Otorhinolaryngol] 2021 Jun; Vol. 145, pp. 110715. Date of Electronic Publication: 2021 Apr 20.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Deafness*
Hearing Loss*
Hearing Loss, Sensorineural*/diagnosis
Hearing Loss, Sensorineural*/genetics
Carrier Proteins/genetics ; Child ; Child, Preschool ; Genetic Association Studies ; Humans ; Mutation ; Pedigree ; Phenotype
Czasopismo naukowe
Tytuł :
Radiological measurement of cochlear dimensions in cochlear hypoplasia and its effect on cochlear implant selection.
Autorzy :
Pamuk G; Department of Otorhinolaryngology, Kırıkkale Yüksek İhtisas Hospital, Kırıkkale, Turkey.
Pamuk AE; Department of Otorhinolaryngology, Kırıkkale Yüksek İhtisas Hospital, Kırıkkale, Turkey.
Akgöz A; Department of Radiology, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
Bajin MD; Department of Otorhinolaryngology, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
Özgen B; Department of Radiology, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
Sennaroğlu L; Department of Otorhinolaryngology, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
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Źródło :
The Journal of laryngology and otology [J Laryngol Otol] 2021 Jun; Vol. 135 (6), pp. 501-507. Date of Electronic Publication: 2021 Apr 12.
Typ publikacji :
Journal Article
MeSH Terms :
Cochlear Implants*
Tomography, X-Ray Computed*
Cochlea/*abnormalities
Cochlea/*diagnostic imaging
Hearing Loss, Sensorineural/*surgery
Adolescent ; Adult ; Child ; Child, Preschool ; Cochlea/pathology ; Cochlea/surgery ; Female ; Hearing Loss, Sensorineural/pathology ; Humans ; Infant ; Male ; Organ Size ; Retrospective Studies ; Temporal Bone/diagnostic imaging ; Young Adult
Czasopismo naukowe
Tytuł :
Relationship Between Galvanic Vestibular-evoked Myogenic Potentials and the Prognosis of Unilateral Severe to Profound Idiopathic Sudden Sensorineural Hearing Loss With Vertigo.
Autorzy :
Chang CM; Department of Biomedical Engineering, National Yang-Ming University.; Department of Otolaryngology, Far Eastern Memorial Hospital.; Department of Otolaryngology, National Taiwan University Hospital.
Lo WC; Department of Otolaryngology, Far Eastern Memorial Hospital.; Department of Otolaryngology, National Taiwan University Hospital.
Young YH; Department of Otolaryngology, National Taiwan University Hospital.
Liao LJ; Department of Otolaryngology, Far Eastern Memorial Hospital.; Department of Electrical Engineering, Yuan Ze University, Taoyuan.; Medical Engineering Office, Far Eastern Memorial Hospital.
Cheng PW; Department of Otolaryngology, Far Eastern Memorial Hospital.; Oriental Institute of Technology, Taipei, Taiwan.
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Źródło :
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology [Otol Neurotol] 2021 Aug 01; Vol. 42 (7), pp. e858-e865.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Hearing Loss, Sensorineural*/diagnosis
Hearing Loss, Sudden*/diagnosis
Vestibular Evoked Myogenic Potentials*
Vestibule, Labyrinth*
Humans ; Prognosis ; Retrospective Studies ; Vertigo/diagnosis
Czasopismo naukowe
Tytuł :
SUDDEN SENSORINEURAL HEARING LOSS AND COVID-19: AN EVOLVING DISCUSSION.
Autorzy :
Chern A; Department of Otolaryngology-Head & Neck Surgery, NewYork-Presbyterian/Columbia, University Irving Medical Center and Columbia, University Vagelos College of Physicians and Surgeons.; Department of Otolaryngology-Head & Neck Surgery, NewYork-Presbyterian/Weill Cornell Medical Center, New York, New York.
Famuyide AO
Moonis G; Department of Radiology, Columbia University Irving Medical Center, New York, New York.
Lalwani AK; Department of Otolaryngology-Head & Neck Surgery, NewYork-Presbyterian/Columbia University Irving Medical Center and Columbia University Vagelos College of Physicians and Surgeons.; Department of Mechanical Engineering, The Fu Foundation School of Engineering and Applied Science,Columbia University, New York, New York.
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Źródło :
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology [Otol Neurotol] 2021 Aug 01; Vol. 42 (7), pp. e968-e969.
Typ publikacji :
Letter; Comment
MeSH Terms :
COVID-19*
Hearing Loss, Sensorineural*
Hearing Loss, Sudden*
Humans ; SARS-CoV-2
Opinia redakcyjna
Tytuł :
The Actual Incidence and Types of Hearing Losses in Bullous Myringitis: Case Series and Systematic Review.
Autorzy :
Ungar OJ; Department of Otolaryngology Head, Neck and Maxillofacial Surgery, Tel Aviv Sourasky Medical Center, affiliated to the Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
Handzel O
Oron Y
Eta RA
Muhanna N
Warshavsky A
Horowitz G
Simani L
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Źródło :
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology [Otol Neurotol] 2021 Aug 01; Vol. 42 (7), pp. 1008-1013.
Typ publikacji :
Journal Article
MeSH Terms :
Hearing Loss, Sensorineural*/epidemiology
Audiometry ; Hearing ; Humans ; Incidence ; Retrospective Studies
Czasopismo naukowe
Tytuł :
Identification of a Novel Copy Number Variation of EYA4 Causing Autosomal Dominant Non-syndromic Hearing Loss.
Autorzy :
Ishino T; Department of Otorhinolaryngology, Head and Neck Surgery, Graduate School of Biomedical and Health Sciences, Hiroshima University.
Ogawa Y; Department of Otorhinolaryngology, Head and Neck Surgery, Graduate School of Biomedical and Health Sciences, Hiroshima University.
Sonoyama T; Department of Otorhinolaryngology, Head and Neck Surgery, Graduate School of Biomedical and Health Sciences, Hiroshima University.
Taruya T; Department of Otorhinolaryngology, Head and Neck Surgery, Graduate School of Biomedical and Health Sciences, Hiroshima University.
Kono T; Department of Otorhinolaryngology, Head and Neck Surgery, Graduate School of Biomedical and Health Sciences, Hiroshima University.
Hamamoto T; Department of Otorhinolaryngology, Head and Neck Surgery, Graduate School of Biomedical and Health Sciences, Hiroshima University.
Ueda T; Department of Otorhinolaryngology, Head and Neck Surgery, Graduate School of Biomedical and Health Sciences, Hiroshima University.
Takeno S; Department of Otorhinolaryngology, Head and Neck Surgery, Graduate School of Biomedical and Health Sciences, Hiroshima University.
Moteki H; Department of Otorhinolaryngology, Shinshu University School of Medicine.
Nishio SY; Department of Otorhinolaryngology, Shinshu University School of Medicine.
Usami SI; Department of Otorhinolaryngology, Shinshu University School of Medicine.
Nagano Y; Division of Rehabilitation, Department of Clinical Practice and Support, Hiroshima University, Minami-ku, Hiroshima, Japan.
Yoshimura A; Division of Rehabilitation, Department of Clinical Practice and Support, Hiroshima University, Minami-ku, Hiroshima, Japan.
Yoshikawa K; Division of Rehabilitation, Department of Clinical Practice and Support, Hiroshima University, Minami-ku, Hiroshima, Japan.
Kato M; Division of Rehabilitation, Department of Clinical Practice and Support, Hiroshima University, Minami-ku, Hiroshima, Japan.
Ichimoto M; Division of Rehabilitation, Department of Clinical Practice and Support, Hiroshima University, Minami-ku, Hiroshima, Japan.
Watanabe R; Division of Rehabilitation, Department of Clinical Practice and Support, Hiroshima University, Minami-ku, Hiroshima, Japan.
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Źródło :
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology [Otol Neurotol] 2021 Aug 01; Vol. 42 (7), pp. e866-e874.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Hearing Loss*
Hearing Loss, Sensorineural*/genetics
Comparative Genomic Hybridization ; DNA Copy Number Variations ; Humans ; Mutation ; Pedigree ; Trans-Activators
Czasopismo naukowe

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