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Quoted phrase not found in phrase index: "Hearing loss, autosomal recessive 57"
Page 1
Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa.
McGee TL, Seyedahmadi BJ, Sweeney MO, Dryja TP, Berson EL. McGee TL, et al. J Med Genet. 2010 Jul;47(7):499-506. doi: 10.1136/jmg.2009.075143. Epub 2010 May 27. J Med Genet. 2010. PMID: 20507924 Free PMC article.
BACKGROUND: Usher syndrome type II (USH2) is an autosomal recessive disorder characterised by retinitis pigmentosa (RP) and mild to moderate sensorineural hearing loss. Mutations in the USH2A gene are the most common cause of USH2 and are also a cause …
BACKGROUND: Usher syndrome type II (USH2) is an autosomal recessive disorder characterised by retinitis pigmentosa (RP) and mi …
Decreased disulphide/thiol ratio in patients with autosomal recessive non-syndromic hearing loss.
Balta B, Gundogdu R, Erdogan M, Alisik M, Kiraz A, Ozcan I, Erel O. Balta B, et al. Int J Pediatr Otorhinolaryngol. 2018 Sep;112:188-192. doi: 10.1016/j.ijporl.2018.07.014. Epub 2018 Jul 10. Int J Pediatr Otorhinolaryngol. 2018. PMID: 30055731
There are no studies in literature on the association between autosomal recessive non-syndromic hearing loss(ARNSHL) including GJB2 and non-GJB2 mutations and thiol-disulphide balance. ...CONCLUSION: It was shown that thiol levels increased and disulph …
There are no studies in literature on the association between autosomal recessive non-syndromic hearing loss(ARN …
Baseline Microperimetry and OCT in the RUSH2A Study: Structure-Function Association and Correlation With Disease Severity.
Lad EM, Duncan JL, Liang W, Maguire MG, Ayala AR, Audo I, Birch DG, Carroll J, Cheetham JK, Durham TA, Fahim AT, Loo J, Deng Z, Mukherjee D, Heon E, Hufnagel RB, Guan B, Iannaccone A, Jaffe GJ, Kay CN, Michaelides M, Pennesi ME, Vincent A, Weng CY, Farsiu S; Foundation Fighting Blindness Consortium Investigator Group. Lad EM, et al. Am J Ophthalmol. 2022 Dec;244:98-116. doi: 10.1016/j.ajo.2022.08.013. Epub 2022 Aug 22. Am J Ophthalmol. 2022. PMID: 36007554 Free PMC article.
DESIGN: Natural history study METHODS: Setting: 16 clinical sites in Europe and North AmericaStudy Population: Participants with Usher syndrome type 2 (USH2) (N = 80) or autosomal recessive nonsyndromic RP (ARRP) (N = 47) associated with biallelic disease-causing se …
DESIGN: Natural history study METHODS: Setting: 16 clinical sites in Europe and North AmericaStudy Population: Participants with Usher syndr …
Residual Hearing in DFNB1 Deafness and Its Clinical Implication in a Korean Population.
Kim SY, Kim AR, Han KH, Kim MY, Jeon EH, Koo JW, Oh SH, Choi BY. Kim SY, et al. PLoS One. 2015 Jun 10;10(6):e0125416. doi: 10.1371/journal.pone.0125416. eCollection 2015. PLoS One. 2015. PMID: 26061264 Free PMC article.
GJB2 sequencing was carried out for 130 probands with sporadic or autosomal recessive non syndromic hearing loss. The audiograms were evaluated in the GJB2 mutants. ...The c.235delC mutation showed a particularly wide spectrum of hearing loss …
GJB2 sequencing was carried out for 130 probands with sporadic or autosomal recessive non syndromic hearing loss …
The carrier rate and mutation spectrum of genes associated with hearing loss in South China hearing female population of childbearing age.
Yin A, Liu C, Zhang Y, Wu J, Mai M, Ding H, Yang J, Zhang X. Yin A, et al. BMC Med Genet. 2013 May 29;14:57. doi: 10.1186/1471-2350-14-57. BMC Med Genet. 2013. PMID: 23718755 Free PMC article.
METHODS: 7,263 unrelated women of childbearing age with normal hearing and without family history of hearing loss were tested with allele-specific PCR-based universal array. ...Of the 303 screened carriers, 282 harbored heterozygous mutated genes associated w …
METHODS: 7,263 unrelated women of childbearing age with normal hearing and without family history of hearing loss were …
Respiratory manifestations in 38 patients with Alström syndrome.
Boerwinkle C, Marshall JD, Bryant J, Gahl WA, Olivier KN, Gunay-Aygun M. Boerwinkle C, et al. Pediatr Pulmonol. 2017 Apr;52(4):487-493. doi: 10.1002/ppul.23607. Epub 2016 Dec 28. Pediatr Pulmonol. 2017. PMID: 28029746 Free PMC article.
OBJECTIVES: Alstrom syndrome (AS) is a rare, multi-system condition characterized by retinal degeneration, sensorineural hearing loss, obesity, insulin-resistant diabetes, hypertriglyceridemia, cardiomyopathy, hepatorenal disease, and recurrent respiratory infection …
OBJECTIVES: Alstrom syndrome (AS) is a rare, multi-system condition characterized by retinal degeneration, sensorineural hearing l …
CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects.
Nasser H, Vera L, Elmaleh-Bergès M, Steindl K, Letard P, Teissier N, Ernault A, Guimiot F, Afenjar A, Moutard ML, Héron D, Alembik Y, Momtchilova M, Milani P, Kubis N, Pouvreau N, Zollino M, Guilmin Crepon S, Kaguelidou F, Gressens P, Verloes A, Rauch A, El Ghouzzi V, Drunat S, Passemard S. Nasser H, et al. J Med Genet. 2020 Jun;57(6):389-399. doi: 10.1136/jmedgenet-2019-106474. Epub 2020 Feb 3. J Med Genet. 2020. PMID: 32015000 Clinical Trial.
BACKGROUND: Primary hereditary microcephaly (MCPH) comprises a large group of autosomal recessive disorders mainly affecting cortical development and resulting in a congenital impairment of brain growth. ...
BACKGROUND: Primary hereditary microcephaly (MCPH) comprises a large group of autosomal recessive disorders mainly affecting c …
Study of the factors related to air-bone gap in enlarged vestibular aqueduct.
Wang R, Zhuang BX, Guo W, Li J, Lin C, Yang S. Wang R, et al. Acta Otolaryngol. 2024 Jan;144(1):39-43. doi: 10.1080/00016489.2024.2308014. Epub 2024 Jan 30. Acta Otolaryngol. 2024. PMID: 38289678
Finally, we analyzed the relationship of ABG and SLC26A4 genes with the degree of vestibular aqueduct (VA) enlargement. RESULTS: Among 555 ears, 312 (57.8%) ears had ABG; approximately 94% of the patients' bone-conduction hearing is almost completely lost at frequen …
Finally, we analyzed the relationship of ABG and SLC26A4 genes with the degree of vestibular aqueduct (VA) enlargement. RESULTS: Among 555 e …
Morphology and cochlear implantation in enlarged vestibular aqueduct.
Patel ND, Ascha MS, Manzoor NF, Gupta A, Semaan M, Megerian C, Otteson TD. Patel ND, et al. Am J Otolaryngol. 2018 Nov-Dec;39(6):657-663. doi: 10.1016/j.amjoto.2018.06.006. Epub 2018 Jun 5. Am J Otolaryngol. 2018. PMID: 30153950

RESULTS: Multivariable modeling showed a statistically significant hearing improvement in ears with EVA undergoing CI with regards to pure tone average (-64.0 dB, p < 0.0001), speech reception threshold (-57.90 dB, p < 0.0001), and word score (34.8%, p > 0.

…
RESULTS: Multivariable modeling showed a statistically significant hearing improvement in ears with EVA undergoing CI with regards to …
GJB2 mutations in hearing impairment: identification of a broad clinical spectrum for improved genetic counseling.
Frei K, Ramsebner R, Lucas T, Hamader G, Szuhai K, Weipoltshammer K, Baumgartner WD, Wachtler FJ, Kirschhofer K. Frei K, et al. Laryngoscope. 2005 Mar;115(3):461-5. doi: 10.1097/01.mlg.0000157855.47143.71. Laryngoscope. 2005. PMID: 15744158
METHODS: The prevalence of mutations in GJB2 encoding for connexin 26 in a patient group with nonsyndromic hearing impairment comprising 45 families and 57 sporadic cases was initially determined by sequencing. ...RESULTS: Autosomal recessively inherit …
METHODS: The prevalence of mutations in GJB2 encoding for connexin 26 in a patient group with nonsyndromic hearing impairment compris …
19 results