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Quoted phrase not found in phrase index: "Hearing loss, X-linked 4"
Page 1
Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome.
Colombo L, Maltese PE, Castori M, El Shamieh S, Zeitz C, Audo I, Zulian A, Marinelli C, Benedetti S, Costantini A, Bressan S, Percio M, Ferri P, Abeshi A, Bertelli M, Rossetti L. Colombo L, et al. Invest Ophthalmol Vis Sci. 2021 Feb 1;62(2):13. doi: 10.1167/iovs.62.2.13. Invest Ophthalmol Vis Sci. 2021. PMID: 33576794 Free PMC article.
Sanger sequencing was used to validate all genetic variants and to perform family segregation studies. Copy number variants of selected genes were analyzed by multiplex ligation-dependent probe amplification. ...Mean ages of onset of the different classes of RP were autoso …
Sanger sequencing was used to validate all genetic variants and to perform family segregation studies. Copy number variants of selected g …
Disease Manifestations and Complications in Dutch X-Linked Hypophosphatemia Patients.
Bosman A, Appelman-Dijkstra NM, Boot AM, de Borst MH, van de Ven AC, de Jongh RT, Bökenkamp A, van den Bergh JP, van der Eerden BCJ, Zillikens MC. Bosman A, et al. Calcif Tissue Int. 2024 Mar;114(3):255-266. doi: 10.1007/s00223-023-01172-2. Epub 2024 Jan 16. Calcif Tissue Int. 2024. PMID: 38226986 Free PMC article.
Lower age at start of XLH-related treatment was associated with higher height at inclusion. Hearing loss was reported in 6.9% of children and 31.4% of adults. ...This nationwide study confirms the high prevalence of adiposity, hearing loss, bone …
Lower age at start of XLH-related treatment was associated with higher height at inclusion. Hearing loss was reported in 6.9% …
X-linked deafness/incomplete partition type 3: Radiological evaluation of temporal bone and intracranial findings.
Parlak S, Gumeler E, Sennaroglu L, Ozgen B. Parlak S, et al. Diagn Interv Radiol. 2022 Jan;28(1):50-57. doi: 10.5152/dir.2021.20791. Diagn Interv Radiol. 2022. PMID: 34914607 Free article. Review.
PURPOSE: X-linked deafness (XLD) is a rare disease, characterized by typical cochlear incomplete partition type 3 anomaly (IP-III). ...In XLD patients, the cochlea had decreased transverse dimension and increased height compared to the control group (p< 0.001). F …
PURPOSE: X-linked deafness (XLD) is a rare disease, characterized by typical cochlear incomplete partition type 3 anomaly (IP- …
Ocular features in Alport syndrome: pathogenesis and clinical significance.
Savige J, Sheth S, Leys A, Nicholson A, Mack HG, Colville D. Savige J, et al. Clin J Am Soc Nephrol. 2015 Apr 7;10(4):703-9. doi: 10.2215/CJN.10581014. Epub 2015 Feb 3. Clin J Am Soc Nephrol. 2015. PMID: 25649157 Free PMC article. Review.
Alport syndrome is an inherited disease characterized by progressive renal failure, hearing loss, and ocular abnormalities. Mutations in the COL4A5 (X-linked), or COL4A3 and COL4A4 (autosomal recessive) genes result in absence of the collagen IV …
Alport syndrome is an inherited disease characterized by progressive renal failure, hearing loss, and ocular abnormalities. Mu …
Vestibular and audiological findings in the Alport syndrome.
Barozzi S, Soi D, Intieri E, Giani M, Aldè M, Tonon E, Signorini L, Renieri A, Fallerini C, Perin P, Montini G, Ambrosetti U. Barozzi S, et al. Am J Med Genet A. 2020 Oct;182(10):2345-2358. doi: 10.1002/ajmg.a.61796. Epub 2020 Aug 20. Am J Med Genet A. 2020. PMID: 32820599
Seventeen patients, aged 9-52, underwent audiological tests including pure-tone and speech audiometry, immittance test and otoacoustic emissions and vestibular tests including video head impulse test, rotatory test, and vestibular evoked myogenic potentials. Hearing los …
Seventeen patients, aged 9-52, underwent audiological tests including pure-tone and speech audiometry, immittance test and otoacoustic emiss …
Genetic findings of Sanger and nanopore single-molecule sequencing in patients with X-linked hearing loss and incomplete partition type III.
Chen Y, Qiu J, Wu Y, Jia H, Jiang Y, Jiang M, Wang Z, Sheng HB, Hu L, Zhang Z, Wang Z, Li Y, Huang Z, Wu H. Chen Y, et al. Orphanet J Rare Dis. 2022 Feb 21;17(1):65. doi: 10.1186/s13023-022-02235-7. Orphanet J Rare Dis. 2022. PMID: 35189936 Free PMC article.
BACKGROUND: POU3F4 is the causative gene for X-linked deafness-2 (DFNX2), characterized by incomplete partition type III (IP-III) malformation of the inner ear. ...De novo genetic mutations occurred in 21.4% (3/14) of patients with POU3F4 mutation. There was …
BACKGROUND: POU3F4 is the causative gene for X-linked deafness-2 (DFNX2), characterized by incomplete partition type III (IP-I …
The Relationship Between the Third Window Abnormalities and Inner Ear Malformations in Children with Hearing Loss.
Sarioglu FC, Pekcevik Y, Guleryuz H, Cakir Cetin A, Guneri EA. Sarioglu FC, et al. J Int Adv Otol. 2021 Sep;17(5):387-392. doi: 10.5152/iao.2021.9482. J Int Adv Otol. 2021. PMID: 34617887 Free PMC article.
The types of hearing loss were grouped as sensorineural hearing loss (SNHL), conductive hearing loss (CHL), and mixed hearing loss (MHL). ...The relationships were analyzed with chi-square and Fisher's exact tests. RESULTS: …
The types of hearing loss were grouped as sensorineural hearing loss (SNHL), conductive hearing loss …
Mutations in TBL1X Are Associated With Central Hypothyroidism.
Heinen CA, Losekoot M, Sun Y, Watson PJ, Fairall L, Joustra SD, Zwaveling-Soonawala N, Oostdijk W, van den Akker EL, Alders M, Santen GW, van Rijn RR, Dreschler WA, Surovtseva OV, Biermasz NR, Hennekam RC, Wit JM, Schwabe JW, Boelen A, Fliers E, van Trotsenburg AS. Heinen CA, et al. J Clin Endocrinol Metab. 2016 Dec;101(12):4564-4573. doi: 10.1210/jc.2016-2531. Epub 2016 Sep 7. J Clin Endocrinol Metab. 2016. PMID: 27603907 Free PMC article.
As a group, adult mutation carriers had 20%-25% lower FT4 concentrations than controls. Twelve of 19 evaluated carriers had hearing loss. Mutations are located in the highly conserved WD40-repeat domain of the protein, influencing its expression and thermal stabilit …
As a group, adult mutation carriers had 20%-25% lower FT4 concentrations than controls. Twelve of 19 evaluated carriers had hearing …
X-linked Alport syndrome: natural history in 195 families and genotype- phenotype correlations in males.
Jais JP, Knebelmann B, Giatras I, Marchi M, Rizzoni G, Renieri A, Weber M, Gross O, Netzer KO, Flinter F, Pirson Y, Verellen C, Wieslander J, Persson U, Tryggvason K, Martin P, Hertz JM, Schröder C, Sanak M, Krejcova S, Carvalho MF, Saus J, Antignac C, Smeets H, Gubler MC. Jais JP, et al. J Am Soc Nephrol. 2000 Apr;11(4):649-657. doi: 10.1681/ASN.V114649. J Am Soc Nephrol. 2000. PMID: 10752524
Alport syndrome (AS) is a type IV collagen hereditary disease characterized by the association of progressive hematuric nephritis, hearing loss, and, frequently, ocular changes. Mutations in the COL4A5 collagen gene are responsible for the more common X-li …
Alport syndrome (AS) is a type IV collagen hereditary disease characterized by the association of progressive hematuric nephritis, hearin …
Molecular genetics of inherited retinal degenerations in Icelandic patients.
Thorsteinsson DA, Stefansdottir V, Eysteinsson T, Thorisdottir S, Jonsson JJ. Thorsteinsson DA, et al. Clin Genet. 2021 Aug;100(2):156-167. doi: 10.1111/cge.13967. Epub 2021 May 7. Clin Genet. 2021. PMID: 33851411 Free PMC article.
Overall, 140 IRD patients were identified (point prevalence of 1/2.600), of which 70 patients had a genetic evaluation where two-thirds had an identified genetic cause. Thirteen disease genes were found in patients with retinitis pigmentosa, with the RLBP1 gene most common …
Overall, 140 IRD patients were identified (point prevalence of 1/2.600), of which 70 patients had a genetic evaluation where two-thirds had …
41 results