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[PMID]: 29524582
[Au] Autor:Miaskowski C; Paul SM; Mastick J; Abrams G; Topp K; Smoot B; Kober KM; Chesney M; Mazor M; Mausisa G; Schumacher M; Conley YP; Sabes JH; Cheung S; Wallhagen M; Levine JD
[Ad] Address:Schools of Nursing, University of California, San Francisco, CA. Electronic address: chris.miaskowski@ucsf.edu.
[Ti] Title:Associations Between Perceived Stress And Chemotherapy-Induced Peripheral Neuropathy And Otoxicity In Adult Cancer Survivors.
[So] Source:J Pain Symptom Manage;, 2018 Mar 07.
[Is] ISSN:1873-6513
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:CONTEXT: The most common adverse effects from neurotoxic chemotherapy are chemotherapy-induced neuropathy (CIPN), hearing loss, and tinnitus. While associations between perceived stress and persistent pain, hearing loss, and tinnitus are documented, no studies have examined these associations in cancer survivors who received neurotoxic chemotherapy. OBJECTIVES: In this cross-sectional study, we evaluated for associations between perceived stress and the occurrence of CIPN, hearing loss, and tinnitus, in 623 adult cancer survivors who received platinum and/or taxane compounds. METHODS: Survivors completed self-report measures of hearing loss, tinnitus, and perceived stress (i.e., Impact of Events Scale-Revised (IES-R)). Separate logistic regression analyses were done for each neurotoxicity to evaluate whether each of the IES-R subscale (i.e., intrusion, avoidance, hyperarousal) and total scores made a significant independent contribution to neurotoxicity group membership. RESULTS: Of the 623 survivors in this study, 68.4% had CIPN, 34.5% reported hearing loss, and 31.0% reported tinnitus. Older age, higher body mass index, poorer functional status, being born prematurely, cancer diagnosis, and higher intrusion (p=.013), hyperarousal (p=.014), and total (p=.047) IES-R scores were associated with CIPN. Older age, being male, poorer functional status, a worse comorbidity profile, and a higher IES-R hyperarousal (p=.007) score were associated with hearing loss. Being male, having less education, a worse comorbidity profile, and a higher IES-R hyperarousal (p=.029) score were associated with tinnitus. CONCLUSION: These findings suggest that increased levels of perceived stress are associated with the most common chemotherapy-induced neurotoxicities.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180310
[Lr] Last revision date:180310
[St] Status:Publisher

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[PMID]: 29510680
[Au] Autor:Jones C; Sharma M; Harkus S; McMahon C; Taumoepeau M; Demuth K; Mattock K; Rosas L; Wing R; Pawar S; Hampshire A
[Ad] Address:MARCS Institute, ARC Centre of Excellence for the Dynamics of Language, Western Sydney University, Locked Bag 1797, Penrith, NSW, 2751, Australia. caroline.jones@westernsydney.edu.au.
[Ti] Title:A program to respond to otitis media in remote Australian Aboriginal communities: a qualitative investigation of parent perspectives.
[So] Source:BMC Pediatr;18(1):99, 2018 Mar 06.
[Is] ISSN:1471-2431
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:BACKGROUND: Indigenous infants and children in Australia, especially in remote communities, experience early and chronic otitis media (OM) which is difficult to treat and has lifelong impacts in health and education. The LiTTLe Program (Learning to Talk, Talking to Learn) aimed to increase infants' access to spoken language input, teach parents to manage health and hearing problems, and support children's school readiness. This paper aimed to explore caregivers' views about this inclusive, parent-implemented early childhood program for 0-3 years in an Aboriginal community health context. METHODS: Data from in-depth, semi-structured interviews with 9 caregivers of 12 children who had participated in the program from one remote Aboriginal community in the Northern Territory are presented. Data were analysed thematically. Caregivers provided overall views on the program. In addition, three key areas of focus in the program are also presented here: speech and language, hearing health, and school readiness. RESULTS: Caregivers were positive about the interactive speech and language strategies in the program, except for some strategies which some parents found alien or difficult: such as talking slowly, following along with the child's topic, using parallel talk, or baby talk. Children's hearing was considered by caregivers to be important for understanding people, enjoying music, and detecting environmental sounds including signs of danger. Caregivers provided perspectives on the utility of sign language and its benefits for communicating with infants and young children with hearing loss, and the difficulty of getting young community children to wear a conventional hearing aid. Caregivers were strongly of the opinion that the program had helped prepare children for school through familiarising their child with early literacy activities and resources, as well as school routines. But caregivers differed as to whether they thought the program should have been located at the school itself. CONCLUSIONS: The caregivers generally reported positive views about the LiTTLe Program, and also drew attention to areas for improvement. The perspectives gathered may serve to guide other cross-sector collaborations across health and education to respond to OM among children at risk for OM-related disability in speech and language development.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180311
[Lr] Last revision date:180311
[St] Status:In-Data-Review
[do] DOI:10.1186/s12887-018-1081-3

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[PMID]: 29382611
[Au] Autor:Fiscaletti M; Biggin A; Bennetts B; Wong K; Briody J; Pacey V; Birman C; Munns CF
[Ad] Address:Institute of Endocrinology and Diabetes, The Children's Hospital at Westmead, Sydney, NSW, Australia. Electronic address: melissa.fiscaletti@health.nsw.gov.au.
[Ti] Title:Novel variant in Sp7/Osx associated with recessive osteogenesis imperfecta with bone fragility and hearing impairment.
[So] Source:Bone;110:66-75, 2018 Jan 31.
[Is] ISSN:1873-2763
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by low bone density and recurrent fractures with a wide genotypic and phenotypic spectrum. Common features include short stature, opalescent teeth, blue sclerae and hearing impairment. The majority (>90%) of patients with OI have autosomal dominant variants in COL1A1/COL1A2, which lead to defects in type 1 collagen. More recently, numerous recessive variants involving other genes have also been identified. Sp7/Osx gene, is a protein coding gene that encodes a zinc finger transcription factor, osterix, which is a member of the Sp subfamily of sequence-specific DNA-binding proteins. Osterix is expressed primarily by osteoblasts and has been shown to be vital for bone formation and bone homeostasis by promoting osteoblast differentiation and maturation. In animal models, Sp7/Osx has also been shown to regulate biomineralization of otoliths, calcium carbonate structures found in the inner ear of vertebrates. Until recently, only one report of a boy with an Sp7/Osx pathogenic variant presenting with bone fragility, limb deformities and normal hearing has been described in the literature. We have identified a novel Sp7/Osx variant in another sibship that presented with osteoporosis, low-trauma fractures and short stature. Progressive moderate-to-severe and severe-to-profound hearing loss secondary to otospongiosis and poor mineralization of ossicles and petrous temporal bone was also noted in two of the siblings. A homozygous pathogenic variant in exon 2 of the Sp7/Osx gene was found in all affected relatives; c.946C>T (p.Arg316Cys). Bone biopsies in the proband and his male sibling revealed significant cortical porosity and high trabecular bone turnover. This is the second report to describe children with OI associated with an Sp7/Osx variant. However, it is the first to describe the bone histomorphometry associated with this disorder and identifies a significant hearing loss as a potential feature in this OI subtype. Early audiology screening in these children is therefore warranted.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180310
[Lr] Last revision date:180310
[St] Status:Publisher

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[PMID]: 29182774
[Au] Autor:Kullar PJ; Gomez-Duran A; Gammage PA; Garone C; Minczuk M; Golder Z; Wilson J; Montoya J; Häkli S; Kärppä M; Horvath R; Majamaa K; Chinnery PF
[Ad] Address:MRC-Mitochondrial Biology Unit, University of Cambridge, CB2 0XY, UK.
[Ti] Title:Heterozygous SSBP1 start loss mutation co-segregates with hearing loss and the m.1555A>G mtDNA variant in a large multigenerational family.
[So] Source:Brain;141(1):55-62, 2018 Jan 01.
[Is] ISSN:1460-2156
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:The m.1555A>G mtDNA variant causes maternally inherited deafness, but the reasons for the highly variable clinical penetrance are not known. Exome sequencing identified a heterozygous start loss mutation in SSBP1, encoding the single stranded binding protein 1 (SSBP1), segregating with hearing loss in a multi-generational family transmitting m.1555A>G, associated with mtDNA depletion and multiple deletions in skeletal muscle. The SSBP1 mutation reduced steady state SSBP1 levels leading to a perturbation of mtDNA metabolism, likely compounding the intra-mitochondrial translation defect due to m.1555A>G in a tissue-specific manner. This family demonstrates the importance of rare trans-acting genetic nuclear modifiers in the clinical expression of mtDNA disease.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1711
[Cu] Class update date: 180311
[Lr] Last revision date:180311
[St] Status:In-Data-Review
[do] DOI:10.1093/brain/awx295

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[PMID]: 29522377
[Au] Autor:Singleton JL; Remillard ET; Mitzner TL; Rogers WA
[Ad] Address:a School of Psychology , Georgia Institute of Technology , Atlanta , GA , USA.
[Ti] Title:Everyday technology use among older deaf adults.
[So] Source:Disabil Rehabil Assist Technol;:1-8, 2018 Mar 09.
[Is] ISSN:1748-3115
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:PURPOSE: Technology holds great potential to support Deaf individuals as they age into older adulthood. However, it is unclear to what extent Deaf seniors are using technology in everyday life or whether they experience challenges in using technology. The current study explored technology use among older Deaf adults with regard to attitudes, adoption style, and frequency of use for a wide range of technologies, including assistive technologies (ATs) for persons with hearing loss and general, everyday technologies. MATERIALS AND METHODS: We developed a questionnaire that assessed older Deaf adults' use of and experiences with technology. The questionnaire was made available in online and paper versions. Participants (N = 109) were recruited from national conferences and organizations for the Deaf. RESULTS: Overall, we found that the older Deaf adults were technology adopters and regularly use and feel comfortable with a variety of devices. However, we also identified a number of technologies that are not being used by this population, including an AT that appears to have become obsolete and technologies that use sound-based alerts. CONCLUSIONS: Insights on how older Deaf adults are embracing technology and which devices they are actually using can help policy makers, technology developers, and a range of aging services professionals, better meet the needs of this understudied population. Implications for Rehabilitation: Older Deaf adults use a variety of assistive and everyday technologies and must be considered as consumers and included in the design process. Older Deaf adults are generally positive in their attitudes towards technologies but they are infrequent users of potentially beneficial health technologies, highlighting opportunities for future research and development. Assistive technology for the Deaf (TTY/TTD) appears to have become obsolete with advances in modern communication technologies, which has implications for policy decisions.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180309
[Lr] Last revision date:180309
[St] Status:Publisher
[do] DOI:10.1080/17483107.2018.1447609

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[PMID]: 29486248
[Au] Autor:Zhao M; Li P; Xie Y; Liu X; Cheng L; Liu T; Kong L; Wang O; Han F
[Ad] Address:Key Laboratory for Genetic Hearing Disorders in Shandong, Binzhou Medical University, 346 Guanhai Road, Yantai, Shandong, 264003, PR China; Department of Biochemistry and Molecular Biology, Binzhou Medical University, 346 Guanhai Road, Yantai, Shandong, 264003, PR China.
[Ti] Title:Recombinant protein of the first two ectodomains of cadherin 23 from erl mice shows impairment in Ca -dependent proteolysis protection.
[So] Source:Protein Expr Purif;147:55-60, 2018 Feb 24.
[Is] ISSN:1096-0279
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:The erl mouse is a mouse model of nonsyndromic autosomal recessive deafness (DFNB12) on the C57BL/6J background. This project was carried out to express the first two ectodomains of cadherin 23 (CDH23 EC1+2) of erl mice in Escherichia coli and identify the Ca -binding ability of the recombinant protein. DNA sequences of CDH23 EC1+2 from wild type and erl mice were synthesized and cloned into pBV220 plasmids. Recombinant plasmids were transformed into Escherichia coli and expression of CDH23 EC1+2 was induced by increasing the temperature from 30 °C to 42 °C. The proteins were analyzed by sodium dodecyl sulfate polyacrylamide gel electrophoresis (SDS-PAGE) and antigenicity of proteins was identified by Western Blotting. Inclusion bodies were denatured in 8 M urea, purified by ion-exchange and gel filtration chromatography and refolded with dialysis in buffer containing 0.1% sarkosyl. The Ca -binding ability of CDH23 EC1+2 was determined by Ca -dependent proteolysis protection. The results showed that the sizes and sequences of inserts in recombinant plasmids were consistent with expectation and that the recombinant proteins were found mainly in the form of inclusion bodies which maintain antigenicity. After refolding, the secondary structures of recombinant proteins were measured by circular dichroism (CD) spectra. Moreover, CDH23 EC1+2 from the erl mice showed less Ca -dependent proteolysis protection comparing with that of the wild type control. We therefore concluded that impairment of Ca -dependent protein interaction was likely involved in the progressive hearing loss in erl mice. The results may aid in understanding the mechanism of hearing loss in DFNB12.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180309
[Lr] Last revision date:180309
[St] Status:Publisher

  7 / 75550 MEDLINE  
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[PMID]: 29431947
[Au] Autor:Lapko IV; Kiryakov VA; Pavlovskaya NA; Oshkoderov OA; Klimkina KV
[Ti] Title:[Choice of informative laboratory biomarkers for the early identification of changes in neurohumoral regulation and carbohydrate exchange in workers of the mining and mechanical engineering industry].
[So] Source:Gig Sanit;95(11):1061-5, 2016.
[Is] ISSN:0016-9900
[Cp] Country of publication:Russia (Federation)
[La] Language:rus
[Ab] Abstract:The diagnostic significance of hormones and integral indices of pituitary-adrenal, pituitary-thyroid and pituitary-gonadal system and carbohydrate metabolism (ACTH (corticotropin), aldosterone, cortisol, TSH (thyroid-stimulating hormone), free triiodothyronine (fT3), free thyroxine (fT4), luteinizing hormone (LH), follicle-stimulating hormone (FSH), total and free testosterone, insulin, integral pituitary-adrenal index (IPAI), the pituitary-thyroid index (PTI), indices of carbohydrate metabolism (Caro and HOMA-IR) was studied for the early diagnostics of disorders of neurohumoral regulation in workers of mining and mechanical engineering industries. The most informative indices, permitting to identify disorders of carbohydrate metabolism are established to be indices of insulin resistance (index Caro and index NOMA-IR) and the determination of insulin in serum. For the identification of changes in pituitary adrenal, pituitary-thyroid and pituitary-gonadal system in patients with vibration disease, sensory-neural hearing loss, comorbidity indexes IGNI, ITI, concentrations of LH and total testosterone are of the most diagnostically significance.
[Mh] MeSH terms primary: Adrenocorticotropic Hormone/blood
Follicle Stimulating Hormone/blood
Insulin/blood
Occupational Diseases
Thyrotropin/blood
[Mh] MeSH terms secundary: Adult
Biomarkers/blood
Carbohydrate Metabolism/physiology
Extraction and Processing Industry/methods
Extraction and Processing Industry/standards
Female
Humans
Hypothalamo-Hypophyseal System/metabolism
Male
Middle Aged
Occupational Diseases/blood
Occupational Diseases/diagnosis
Occupational Diseases/etiology
Occupational Diseases/prevention & control
Occupational Health
Pituitary-Adrenal System/metabolism
Reproducibility of Results
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:0 (Biomarkers); 0 (Insulin); 9002-60-2 (Adrenocorticotropic Hormone); 9002-68-0 (Follicle Stimulating Hormone); 9002-71-5 (Thyrotropin)
[Em] Entry month:1803
[Cu] Class update date: 180309
[Lr] Last revision date:180309
[Js] Journal subset:IM
[Da] Date of entry for processing:180213
[St] Status:MEDLINE

  8 / 75550 MEDLINE  
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[PMID]: 29377910
[Au] Autor:Ikezono T; Matsumura T; Matsuda H; Shikaze S; Saitoh S; Shindo S; Hasegawa S; Oh SH; Hagiwara Y; Ogawa Y; Ogawa H; Sato H; Tono T; Araki R; Maeda Y; Usami SI; Kase Y
[Ad] Address:Department of Otorhinolaryngology, Saitama Medical University, Saitama, Japan.
[Ti] Title:The diagnostic performance of a novel ELISA for human CTP (Cochlin-tomoprotein) to detect perilymph leakage.
[So] Source:PLoS One;13(1):e0191498, 2018.
[Is] ISSN:1932-6203
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Perilymphatic fistula is defined as an abnormal communication between the perilymph-filled space and the middle ear, or cranial spaces. The manifestations include a broad spectrum of neuro-otological symptoms such as hearing loss, vertigo/dizziness, disequilibrium, aural fullness, tinnitus, and cognitive dysfunction. By sealing the fistula, perilymphatic fistula is a surgically correctable disease. Also, appropriate recognition and treatment of perilymphatic fistula can improve a patient's condition and hence the quality of life. However, the difficulty in making a definitive diagnosis due to the lack of an appropriate biomarker to detect perilymph leakage has caused a long-standing debate regarding its management. We have reported a clinical test for the diagnosis of perilymphatic fistula by detecting a perilymph specific protein, Cochlin-tomoprotein, as a diagnostic marker using a western blot. The aim of this study is to establish an ELISA-based human Cochlin-tomoprotein detection test and to evaluate its diagnostic accuracy in clinical subjects. The results of ELISA showed good dilution reproducibility. The mean concentration was 49.7±9.4 of 10 perilymph samples. The ROC curve in differentiating the perilymph leakage condition from the normal middle ear was significant (P < 0.001) with an area under the curve (AUC) of 0.918 (95% CI 0.824-0.100). We defined the diagnostic criteria as follows: CTP<0.4 negative; 0.4≦CTP<0.8 intermediate; 0.8≦CTP(ng/ml) positive in the clinical usage of the hCTP ELISA, and sensitivity and specificity were 86.4% and 100%, respectively. We further tested the expression specificity of the Cochlin-tomoprotein by testing blood and CSF samples. The concentration was below the detection limit (0.2 ng/ml) in 38 of the 40 blood, and 14 of the 19 CSF samples. We report the accuracy of this test for the diagnosis of perilymphatic fistula. Using ELISA, we can improve the throughput of the test. Furthermore, it is useful for a large-scale study to characterize the clinical picture and delineate the management of this medical condition.
[Mh] MeSH terms primary: Enzyme-Linked Immunosorbent Assay/methods
Extracellular Matrix Proteins/metabolism
Perilymph/metabolism
[Mh] MeSH terms secundary: Blotting, Western
Extracellular Matrix Proteins/blood
Extracellular Matrix Proteins/cerebrospinal fluid
Humans
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Name of substance:0 (COCH protein, human); 0 (Extracellular Matrix Proteins)
[Em] Entry month:1803
[Cu] Class update date: 180309
[Lr] Last revision date:180309
[Js] Journal subset:IM
[Da] Date of entry for processing:180130
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0191498

  9 / 75550 MEDLINE  
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[PMID]: 29339204
[Au] Autor:Takagi D; Furukawa S; Okada M; Tanaka K; Senba H; Teraoka M; Yamada H; Hato N; Miyake Y
[Ad] Address:Department of Otolaryngology, Head and Neck Surgery, Ehime University Graduate School of Medicine, Toon, Japan.
[Ti] Title:WITHDRAWN: Serum uric acid and prevalence of age-related hearing loss in the Japanese population: Baseline data from the Aidai Cohort Study in Yawatahama.
[So] Source:Exp Gerontol;, 2018 Jan 12.
[Is] ISSN:1873-6815
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:This article has been withdrawn at the request of the author(s) and/or editor. The Publisher apologizes for any inconvenience this may cause. The full Elsevier Policy on Article Withdrawal can be found at https://www.elsevier.com/about/our-business/policies/article-withdrawal.
[Pt] Publication type:RETRACTION OF PUBLICATION
[Em] Entry month:1801
[Cu] Class update date: 180309
[Lr] Last revision date:180309
[St] Status:Publisher

  10 / 75550 MEDLINE  
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[PMID]: 29287889
[Au] Autor:Cesca F; Bettella E; Polli R; Cama E; Scimemi P; Santarelli R; Murgia A
[Ad] Address:Laboratory of Molecular Genetics of Neurodevelopment, Department of Women's and Children's Health, University of Padova, Italy.
[Ti] Title:A novel mutation of the EYA4 gene associated with post-lingual hearing loss in a proband is co-segregating with a novel PAX3 mutation in two congenitally deaf family members.
[So] Source:Int J Pediatr Otorhinolaryngol;104:88-93, 2018 Jan.
[Is] ISSN:1872-8464
[Cp] Country of publication:Ireland
[La] Language:eng
[Ab] Abstract:OBJECTIVES: This work was aimed at establishing the molecular etiology of hearing loss in a 9-year old girl with post-lingual non-syndromic mild sensorineural hearing loss with a complex family history of clinically heterogeneous deafness. METHODS: The proband's DNA was subjected to NGS analysis of a 59-targeted gene panel, with the use of the Ion Torrent PGM platform. Conventional Sanger sequencing was used for segregation analysis in all the affected relatives. The proband and all the other hearing impaired members of the family underwent a thorough clinical and audiological evaluation. RESULTS: A new likely pathogenic mutation in the EYA4 gene (c.1154C > T; p.Ser385Leu) was identified in the proband and in her 42-year-old father with post-lingual non-syndromic profound sensorineural hearing loss. The EYA4 mutation was also found in the proband's grandfather and uncle, both showing clinical features of Waardenburg syndrome type 1. A novel pathogenic splice-site mutation (c.321+1G > A) of the PAX3 gene was found to co-segregate with the EYA4 mutation in these two subjects. CONCLUSION: The identified novel EYA4 mutation can be considered responsible of the hearing loss observed in the proband and her father, while a dual molecular diagnosis was reached in the relatives co-segregating the EYA4 and the PAX3 mutations. In these two subjects the DFNA10 phenotype was masked by Waardenburg syndrome. The use of NGS targeted gene-panel, in combination with an extensive clinical and audiological examination led us to identify the genetic cause of the hearing loss in members of a family in which different forms of autosomal dominant deafness segregate. These results provide precise and especially important prognostic and follow-up information for the future audiologic management in the youngest affected member.
[Mh] MeSH terms primary: Deafness/genetics
Hearing Loss, Sensorineural/genetics
PAX3 Transcription Factor/genetics
Trans-Activators/genetics
Waardenburg Syndrome/genetics
[Mh] MeSH terms secundary: Adult
Audiometry
Child
Family
Female
High-Throughput Nucleotide Sequencing
Humans
Male
Mutation
Pedigree
Phenotype
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:0 (EYA4 protein, human); 0 (PAX3 Transcription Factor); 0 (PAX3 protein, human); 0 (Trans-Activators)
[Em] Entry month:1803
[Cu] Class update date: 180309
[Lr] Last revision date:180309
[Js] Journal subset:IM
[Da] Date of entry for processing:171231
[St] Status:MEDLINE


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