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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% …
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 …
Congenital isolated central hypothyroidism: Novel mutations and their functional implications.
Boelen A, van Trotsenburg ASP, Fliers E. Boelen A, et al. Handb Clin Neurol. 2021;180:161-169. doi: 10.1016/B978-0-12-820107-7.00010-0. Handb Clin Neurol. 2021. PMID: 34225927 Review.
Over the past decade, the identification of families with isolated congenital central hypothyroidism enabled the identification of novel genetic causes of this condition, in addition to mutations in the TSHbeta-subunit gene and thyrotropin-releasing hormone receptor gene reported …
Over the past decade, the identification of families with isolated congenital central hypothyroidism enabled the identification of novel gen …
Characterization of vertigo and hearing loss in patients with Fabry disease.
Köping M, Shehata-Dieler W, Schneider D, Cebulla M, Oder D, Müntze J, Nordbeck P, Wanner C, Hagen R, Schraven SP. Köping M, et al. Orphanet J Rare Dis. 2018 Aug 15;13(1):137. doi: 10.1186/s13023-018-0882-7. Orphanet J Rare Dis. 2018. PMID: 30111353 Free PMC article.
RESULTS: More than one out of three patients (35.1%) complained about hearing loss, 54.4% about vertigo and 28.1% about both symptom. In 74% a sensorineural hearing loss of at least 25 dB was found, ABR could exclude any retrocochlear lesion. .. …
RESULTS: More than one out of three patients (35.1%) complained about hearing loss, 54.4% about vertigo and 28.1% about …
Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients.
Cabanillas R, Diñeiro M, Cifuentes GA, Castillo D, Pruneda PC, Álvarez R, Sánchez-Durán N, Capín R, Plasencia A, Viejo-Díaz M, García-González N, Hernando I, Llorente JL, Repáraz-Andrade A, Torreira-Banzas C, Rosell J, Govea N, Gómez-Martínez JR, Núñez-Batalla F, Garrote JA, Mazón-Gutiérrez Á, Costales M, Isidoro-García M, García-Berrocal B, Ordóñez GR, Cadiñanos J. Cabanillas R, et al. BMC Med Genomics. 2018 Jul 9;11(1):58. doi: 10.1186/s12920-018-0375-5. BMC Med Genomics. 2018. PMID: 29986705 Free PMC article.
BACKGROUND: Sensorineural hearing loss (SNHL) is the most common sensory impairment. Comprehensive next-generation sequencing (NGS) has become the standard for the etiological diagnosis of early-onset SNHL. ...The diagnostic yield on the SNHL patients was 42% (21/50 …
BACKGROUND: Sensorineural hearing loss (SNHL) is the most common sensory impairment. Comprehensive next-generation sequencing …
X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations.
Savige J, Storey H, Il Cheong H, Gyung Kang H, Park E, Hilbert P, Persikov A, Torres-Fernandez C, Ars E, Torra R, Hertz JM, Thomassen M, Shagam L, Wang D, Wang Y, Flinter F, Nagel M. Savige J, et al. PLoS One. 2016 Sep 14;11(9):e0161802. doi: 10.1371/journal.pone.0161802. eCollection 2016. PLoS One. 2016. PMID: 27627812 Free PMC article.
Alport syndrome results from mutations in the COL4A5 (X-linked) or COL4A3/COL4A4 (recessive) genes. This study examined 754 previously- unpublished variants in these genes from individuals referred for genetic testing in 12 accredited diagnostic labora …
Alport syndrome results from mutations in the COL4A5 (X-linked) or COL4A3/COL4A4 (recessive) genes. This study examined …
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 …
Temporal retinal thinning and the diagnosis of Alport syndrome and Thin basement membrane nephropathy.
Chen Y, Colville D, Ierino F, Symons A, Savige J. Chen Y, et al. Ophthalmic Genet. 2018 Apr;39(2):208-214. doi: 10.1080/13816810.2017.1401088. Epub 2017 Nov 27. Ophthalmic Genet. 2018. PMID: 29172845
BACKGROUND AND OBJECTIVES: Alport syndrome is an inherited disease characterized by renal failure, hearing loss, and ocular abnormalities, including temporal retinal thinning. ...Statistical analysis was performed using Student's t test, Mann-Whitney U test, and ROC …
BACKGROUND AND OBJECTIVES: Alport syndrome is an inherited disease characterized by renal failure, hearing loss, and ocular ab …
Enlarged vestibular aqueduct: Looking for genotypic-phenotypic correlations.
González-García JA, Ibáñez A, Ramírez-Camacho R, Rodríguez A, García-Berrocal JR, Trinidad A. González-García JA, et al. Eur Arch Otorhinolaryngol. 2006 Nov;263(11):971-6. doi: 10.1007/s00405-006-0095-x. Epub 2006 Jul 8. Eur Arch Otorhinolaryngol. 2006. PMID: 16830115 Review.
Pendred's syndrome, distal renal tubular acidosis, waardenburg's syndrome, X-linked congenital mixed deafness, branchio-oto-renal syndrome, and oto-facio-cervical syndrome can express their genotypic alteration as enlarged vestibular aqueduct syndrome. We also found …
Pendred's syndrome, distal renal tubular acidosis, waardenburg's syndrome, X-linked congenital mixed deafness, branchio-oto-re …
85 results