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71 results

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Page 1
Wolfram Syndrome: Diagnosis, Management, and Treatment.
Urano F. Urano F. Curr Diab Rep. 2016 Jan;16(1):6. doi: 10.1007/s11892-015-0702-6. Curr Diab Rep. 2016. PMID: 26742931 Free PMC article. Review.
Although there are currently no effective treatments that can delay or reverse the progression of Wolfram syndrome, the use of careful clinical monitoring and supportive care can help relieve the suffering of patients and improve their quality of life. ...
Although there are currently no effective treatments that can delay or reverse the progression of Wolfram syndrome, the use of careful clini …
Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development.
Mustillo PJ, Sullivan KE, Chinn IK, Notarangelo LD, Haddad E, Davies EG, de la Morena MT, Hartog N, Yu JE, Hernandez-Trujillo VP, Ip W, Franco J, Gambineri E, Hickey SE, Varga E, Markert ML. Mustillo PJ, et al. J Clin Immunol. 2023 Feb;43(2):247-270. doi: 10.1007/s10875-022-01418-y. Epub 2023 Jan 17. J Clin Immunol. 2023. PMID: 36648576 Free PMC article. Review.
These guideline recommendations provide a comprehensive review for immunologists and other clinicians who manage immune aspects of this group of disorders....
These guideline recommendations provide a comprehensive review for immunologists and other clinicians who manage immune aspects of this grou …
Genetic screening of a Chinese cohort of children with hearing loss using a next-generation sequencing panel.
Ma J, Ma X, Lin K, Huang R, Bi X, Ming C, Li L, Li X, Li G, Zhao L, Yang T, Gao Y, Zhang T. Ma J, et al. Hum Genomics. 2023 Jan 4;17(1):1. doi: 10.1186/s40246-022-00449-1. Hum Genomics. 2023. PMID: 36597107 Free PMC article.
METHODS: Here, we used a custom capture panel to perform targeted sequencing of 518 genes in a cohort of 879 deaf Chinese probands who lived in Yunnan. Mutation sites of the parents were performed by high-throughput sequencing and validated by Sanger sequencing. ...
METHODS: Here, we used a custom capture panel to perform targeted sequencing of 518 genes in a cohort of 879 deaf Chinese probands wh …
Pathogenesis and Treatment of Usher Syndrome Type IIA.
Zaw K, Carvalho LS, Aung-Htut MT, Fletcher S, Wilton SD, Chen FK, McLenachan S. Zaw K, et al. Asia Pac J Ophthalmol (Phila). 2022 Jul-Aug 01;11(4):369-379. doi: 10.1097/APO.0000000000000546. Epub 2022 Aug 17. Asia Pac J Ophthalmol (Phila). 2022. PMID: 36041150 Free article. Review.
Usher syndrome (USH) is the most common form of deaf-blindness, with an estimated prevalence of 4.4 to 16.6 per 100,000 people worldwide. ...
Usher syndrome (USH) is the most common form of deaf-blindness, with an estimated prevalence of 4.4 to 16.6 per 100,000 people worldw …
Review of Genotype-Phenotype Correlations in Usher Syndrome.
Nisenbaum E, Thielhelm TP, Nourbakhsh A, Yan D, Blanton SH, Shu Y, Koehler KR, El-Amraoui A, Chen Z, Lam BL, Liu X. Nisenbaum E, et al. Ear Hear. 2022 Jan/Feb;43(1):1-8. doi: 10.1097/AUD.0000000000001066. Ear Hear. 2022. PMID: 34039936 Free PMC article. Review.
Usher syndrome (USH) encompasses a group of clinically and genetically heterogenous disorders defined by the triad of sensorineural hearing loss (SNHL), vestibular dysfunction, and vision loss. USH is the most common cause of deaf blindness. USH is divided clinicall …
Usher syndrome (USH) encompasses a group of clinically and genetically heterogenous disorders defined by the triad of sensorineural h …
Tissue-specific genotype-phenotype correlations among USH2A-related disorders in the RUSH2A study.
Hufnagel RB, Liang W, Duncan JL, Brewer CC, Audo I, Ayala AR, Branham K, Cheetham JK, Daiger SP, Durham TA, Guan B, Heon E, Hoyng CB, Iannaccone A, Kay CN, Michaelides M, Pennesi ME, Singh MS, Ullah E; Foundation Fighting Blindness Consortium Investigator Group. Hufnagel RB, et al. Hum Mutat. 2022 May;43(5):613-624. doi: 10.1002/humu.24365. Epub 2022 Mar 21. Hum Mutat. 2022. PMID: 35266249 Free PMC article.
This study unveils a unique, tissue-specific USH2A allelic hierarchy with important prognostic implications for patient counseling and treatment trial endpoints. These findings may inform clinical care or research approaches in others with allelic disorders or pleio …
This study unveils a unique, tissue-specific USH2A allelic hierarchy with important prognostic implications for patient counseling and treat …
Metabolic Treatment of Wolfram Syndrome.
Iafusco D, Zanfardino A, Piscopo A, Curto S, Troncone A, Chianese A, Rollato AS, Testa V, Iafusco F, Maione G, Pennarella A, Boccabella L, Ozen G, Palma PL, Mazzaccara C, Tinto N, Miraglia Del Giudice E. Iafusco D, et al. Int J Environ Res Public Health. 2022 Feb 27;19(5):2755. doi: 10.3390/ijerph19052755. Int J Environ Res Public Health. 2022. PMID: 35270448 Free PMC article. Review.
An extensive understanding of WS from pathophysiology to novel possible therapy is fundamental and further studies are needed to better manage this devastating disease and to guarantee to patients a better quality of life and a longer life expectancy....
An extensive understanding of WS from pathophysiology to novel possible therapy is fundamental and further studies are needed to bett …
Antisense Oligonucleotides for the Treatment of Inner Ear Dysfunction.
Hastings ML, Jones TA. Hastings ML, et al. Neurotherapeutics. 2019 Apr;16(2):348-359. doi: 10.1007/s13311-019-00729-0. Neurotherapeutics. 2019. PMID: 30972560 Free PMC article. Review.
Antisense oligonucleotides (ASOs) have shown potential as therapeutic molecules for the treatment of inner ear dysfunction. The peripheral sensory organs responsible for both hearing and equilibrium are housed within the inner ear. ...Here, we review ASO technology, delive …
Antisense oligonucleotides (ASOs) have shown potential as therapeutic molecules for the treatment of inner ear dysfunction. The perip …
Establishing Genotype-phenotype Correlation in USH2A-related Disorders to Personalize Audiological Surveillance and Rehabilitation.
Molina-Ramírez LP, Lenassi E, Ellingford JM, Sergouniotis PI, Ramsden SC, Bruce IA, Black GCM. Molina-Ramírez LP, et al. Otol Neurotol. 2020 Apr;41(4):431-437. doi: 10.1097/MAO.0000000000002588. Otol Neurotol. 2020. PMID: 32176120
OBJECTIVE: USH2A-related disorders are characterised by genetic and phenotypic heterogeneity, and are associated with a spectrum of sensory deficits, ranging from deaf blindness to blindness with normal hearing. ...
OBJECTIVE: USH2A-related disorders are characterised by genetic and phenotypic heterogeneity, and are associated with a spectrum of s …
71 results