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Quoted phrase not found in phrase index: "Hearing loss, X-linked 6"
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 …
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 …
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. ...CONCLU …
RESULTS: More than one out of three patients (35.1%) complained about hearing loss, 54.4% about vertigo and 28.1% about both s …
Genetic causes of nonsyndromic hearing loss.
Skvorak Giersch AB, Morton CC. Skvorak Giersch AB, et al. Curr Opin Pediatr. 1999 Dec;11(6):551-7. doi: 10.1097/00008480-199912000-00014. Curr Opin Pediatr. 1999. PMID: 10590915 Review.
Greater than half of hearing loss is estimated to have a genetic basis. Recent studies of hearing and deafness have identified a dozen genes that cause nonsyndromic hearing disorders. ...With new mandates for hearing screening programs fo …
Greater than half of hearing loss is estimated to have a genetic basis. Recent studies of hearing and deafness have ide …
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 …
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. ...The mean PTAs for patients with the variants located in the exon and upstream regions were 39.6 …
BACKGROUND: POU3F4 is the causative gene for X-linked deafness-2 (DFNX2), characterized by incomplete partition type III (IP-I …
Clinical and genetic features in autosomal recessive and X-linked Alport syndrome.
Wang Y, Sivakumar V, Mohammad M, Colville D, Storey H, Flinter F, Dagher H, Savige J. Wang Y, et al. Pediatr Nephrol. 2014 Mar;29(3):391-6. doi: 10.1007/s00467-013-2643-0. Epub 2013 Nov 2. Pediatr Nephrol. 2014. PMID: 24178893
RESULTS: Patients comprised 9 males and 6 females with autosomal recessive Alport syndrome, and 18 males and 22 females with X-linked disease. ...They were more likely to have renal failure (p = 0.003), hearing loss (p = 0.02) and lenticonus (p …
RESULTS: Patients comprised 9 males and 6 females with autosomal recessive Alport syndrome, and 18 males and 22 females with X …
Long-term outcomes in ALG13-Congenital Disorder of Glycosylation.
Shah R, Johnsen C, Pletcher BA, Edmondson AC, Kozicz T, Morava E. Shah R, et al. Am J Med Genet A. 2023 Jun;191(6):1626-1631. doi: 10.1002/ajmg.a.63179. Epub 2023 Mar 17. Am J Med Genet A. 2023. PMID: 36930724
ALG13-CDG is a rare X-linked disorder of N-linked glycosylation. Given the lack of long-term outcome data in ALG13-CDG, we collected natural history data and reviewed individuals surviving to young adulthood with confirmed pathogenic variants in ALG13 in our own coh …
ALG13-CDG is a rare X-linked disorder of N-linked glycosylation. Given the lack of long-term outcome data in ALG13-CDG, we col …
Corneal endothelial cell abnormalities in X-linked Alport syndrome.
Nicklason E, Mack H, Beltz J, Jacob J, Farahani M, Colville D, Savige J. Nicklason E, et al. Ophthalmic Genet. 2020 Feb;41(1):13-19. doi: 10.1080/13816810.2019.1709126. Epub 2020 Mar 11. Ophthalmic Genet. 2020. PMID: 32159412
Background: X-linked Alport syndrome results from the effect of COL4A5 mutations on basement membranes in the kidney, ear and eye. ...Results for corneal microscopy for men and women with X-linked disease were compared separately with the mean values f …
Background: X-linked Alport syndrome results from the effect of COL4A5 mutations on basement membranes in the kidney, ear and …
72 results