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Table representation of search results timeline featuring number of search results per year.

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2024 0

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Page 1
Systematic Review of Outcomes After Cochlear Implantation in Children With X-Linked Deafness-2.
Smith JD, El-Kashlan N, Darr OAF, Thorne MC. Smith JD, et al. Otolaryngol Head Neck Surg. 2021 Jan;164(1):19-26. doi: 10.1177/0194599820932138. Epub 2020 Jun 30. Otolaryngol Head Neck Surg. 2021. PMID: 32600118
To address this uncertainty, we performed a systematic review and synthesis of the literature on audiologic and speech outcomes after cochlear implantation in these patients to inform prognostic counseling. DATA SOURCES: PubMed, Embase, and Cochrane Library were queried fo …
To address this uncertainty, we performed a systematic review and synthesis of the literature on audiologic and speech outcomes after cochle …
Novel Mutation in AIFM1 Gene Associated with X-Linked Deafness in a Moroccan Family.
Elrharchi S, Riahi Z, Salime S, Charoute H, Elkhattabi L, Boulouiz R, Kabine M, Bonnet C, Petit C, Barakat A. Elrharchi S, et al. Hum Hered. 2020;85(1):35-39. doi: 10.1159/000512712. Epub 2021 Jan 22. Hum Hered. 2020. PMID: 33486474
RESULTS: The impact of the c.1045A>G; p.(Ser349Gly) mutation on the AIFM1 protein was predicted using different bioinformatics tools. The pedigree analysis in the examined family was consistent with X-linked dominant inheritance. ...
RESULTS: The impact of the c.1045A>G; p.(Ser349Gly) mutation on the AIFM1 protein was predicted using different bioinformatics too …
Clinical and molecular characterization of POU3F4 mutations in multiple DFNX2 Chinese families.
Su Y, Gao X, Huang SS, Mao JN, Huang BQ, Zhao JD, Kang DY, Zhang X, Dai P. Su Y, et al. BMC Med Genet. 2018 Sep 4;19(1):157. doi: 10.1186/s12881-018-0630-9. BMC Med Genet. 2018. PMID: 30176854 Free PMC article.
In family 1468, we observed a novel deletion mutation, c.973delT, which is predicted to result in a p.Trp325Gly amino acid frameshift. In family 2741, the mutation c.927delCTC was identified, which is predicted to result in the deletion of serine at position 310. In …
In family 1468, we observed a novel deletion mutation, c.973delT, which is predicted to result in a p.Trp325Gly amino acid frameshift …
Novel domain-specific POU3F4 mutations are associated with X-linked deafness: examples from different populations.
Bademci G, Lasisi A, Yariz KO, Montenegro P, Menendez I, Vinueza R, Paredes R, Moreta G, Subasioglu A, Blanton S, Fitoz S, Incesulu A, Sennaroglu L, Tekin M. Bademci G, et al. BMC Med Genet. 2015 Feb 25;16:9. doi: 10.1186/s12881-015-0149-2. BMC Med Genet. 2015. PMID: 25928534 Free PMC article.
(Ala116ProfsX26)) in POU3F4, were identified. All mutations identified are predicted to affect the POU-specific or POU homeo domains of the protein and co-segregated with deafness in all families. ...
(Ala116ProfsX26)) in POU3F4, were identified. All mutations identified are predicted to affect the POU-specific or POU homeo domains …
A profound computational study to prioritize the disease-causing mutations in PRPS1 gene.
Agrahari AK, Sneha P, George Priya Doss C, Siva R, Zayed H. Agrahari AK, et al. Metab Brain Dis. 2018 Apr;33(2):589-600. doi: 10.1007/s11011-017-0121-2. Epub 2017 Oct 18. Metab Brain Dis. 2018. PMID: 29047041
In the present study, we obtained 20 missense mutations from UniProt and dbSNP databases and applied series of comprehensive in silico prediction methods to assess the degree of pathogenicity and stability. In silico tools predicted four missense mutations (D52H, M1 …
In the present study, we obtained 20 missense mutations from UniProt and dbSNP databases and applied series of comprehensive in silico pr …
Spondyloepimetaphyseal dysplasia with neurodegeneration associated with AIFM1 mutation - a novel phenotype of the mitochondrial disease.
Mierzewska H, Rydzanicz M, Biegański T, Kosinska J, Mierzewska-Schmidt M, Ługowska A, Pollak A, Stawiński P, Walczak A, Kędra A, Obersztyn E, Szczepanik E, Płoski R. Mierzewska H, et al. Clin Genet. 2017 Jan;91(1):30-37. doi: 10.1111/cge.12792. Epub 2016 Jun 2. Clin Genet. 2017. PMID: 27102849
The p.Asp237Gly segregated with disease as indicated by linkage analysis [maximum logarithm of odds score (LOD) score at theta 0 for the two families was 3.359]. This variant had not been previously reported and it was predicted to be pathogenic by Polyphen2, SIFT, Mutatio …
The p.Asp237Gly segregated with disease as indicated by linkage analysis [maximum logarithm of odds score (LOD) score at theta 0 for the two …
Findings from aetiological investigation of Auditory Neuropathy Spectrum Disorder in children referred to cochlear implant programs.
Rajput K, Saeed M, Ahmed J, Chung M, Munro C, Patel S, Leal C, Jiang D, Nash R. Rajput K, et al. Int J Pediatr Otorhinolaryngol. 2019 Jan;116:79-83. doi: 10.1016/j.ijporl.2018.10.010. Epub 2018 Oct 11. Int J Pediatr Otorhinolaryngol. 2019. PMID: 30554714
Patients with ANSD sufficiently severe to consider cochlear implantation are generally identified at an early age. Aetiological investigation is important to guide prognosis and identify comorbidity. CONCLUSION: Prematurity and jaundice are the most commonly identified aet …
Patients with ANSD sufficiently severe to consider cochlear implantation are generally identified at an early age. Aetiological investigatio …
Genetic identification and molecular modeling characterization of a novel POU3F4 variant in two Italian deaf brothers.
Giannantonio S, Agolini E, Scorpecci A, Anzivino R, Bellacchio E, Cocciadiferro D, Novelli A, Digilio MC, Marsella P. Giannantonio S, et al. Int J Pediatr Otorhinolaryngol. 2020 Feb;129:109790. doi: 10.1016/j.ijporl.2019.109790. Epub 2019 Nov 22. Int J Pediatr Otorhinolaryngol. 2020. PMID: 31786483
In this report, we describe a novel, probably pathogenic hemizygous variant c.870G > T (p.Lys290Asn) in the POU3F4 gene in two deaf brothers from one Italian family with identical inner ear abnormalities specific to X-linked deafness-2 (DFNX2). In addition, we performed homolo …
In this report, we describe a novel, probably pathogenic hemizygous variant c.870G > T (p.Lys290Asn) in the POU3F4 gene in two deaf broth …
17 results