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228 results

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Quoted phrase not found in phrase index: "Hereditary hearing loss and deafness"
Page 1
Alport Syndrome: Achieving Early Diagnosis and Treatment.
Kashtan CE. Kashtan CE. Am J Kidney Dis. 2021 Feb;77(2):272-279. doi: 10.1053/j.ajkd.2020.03.026. Epub 2020 Jul 22. Am J Kidney Dis. 2021. PMID: 32712016 Review.
Individuals with Alport syndrome have a significant lifetime risk for kidney failure, as well as sensorineural deafness and ocular abnormalities. The availability of effective intervention for Alport syndrome-related kidney disease makes early diagnosis crucial, but this c …
Individuals with Alport syndrome have a significant lifetime risk for kidney failure, as well as sensorineural deafness and ocular ab …
Dominant Stickler Syndrome.
Soh Z, Richards AJ, McNinch A, Alexander P, Martin H, Snead MP. Soh Z, et al. Genes (Basel). 2022 Jun 18;13(6):1089. doi: 10.3390/genes13061089. Genes (Basel). 2022. PMID: 35741851 Free PMC article. Review.
The Stickler syndromes are a group of genetic connective tissue disorders associated with an increased risk of rhegmatogenous retinal detachment, deafness, cleft palate, and premature arthritis. This review article focuses on the molecular genetics of the autosomal dominan …
The Stickler syndromes are a group of genetic connective tissue disorders associated with an increased risk of rhegmatogenous retinal detach …
Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel.
Shen J, Oza AM, Del Castillo I, Duzkale H, Matsunaga T, Pandya A, Kang HP, Mar-Heyming R, Guha S, Moyer K, Lo C, Kenna M, Alexander JJ, Zhang Y, Hirsch Y, Luo M, Cao Y, Wai Choy K, Cheng YF, Avraham KB, Hu X, Garrido G, Moreno-Pelayo MA, Greinwald J, Zhang K, Zeng Y, Brownstein Z, Basel-Salmon L, Davidov B, Frydman M, Weiden T, Nagan N, Willis A, Hemphill SE, Grant AR, Siegert RK, DiStefano MT, Amr SS, Rehm HL, Abou Tayoun AN; ClinGen Hearing Loss Working Group. Shen J, et al. Genet Med. 2019 Nov;21(11):2442-2452. doi: 10.1038/s41436-019-0535-9. Epub 2019 Jun 4. Genet Med. 2019. PMID: 31160754 Free PMC article.
PURPOSE: Pathogenic variants in GJB2 are the most common cause of autosomal recessive sensorineural hearing loss. The classification of c.101T>C/p.Met34Thr and c.109G>A/p.Val37Ile in GJB2 are controversial. ...We found that p.Met34Thr and p.Val37Ile are signif …
PURPOSE: Pathogenic variants in GJB2 are the most common cause of autosomal recessive sensorineural hearing loss. The classifi …
Genetic screening of a Chinese cohort of children with hearing loss using a next-generation sequencing panel.
Ma J, Ma X, Lin K, Huang R, Bi X, Ming C, Li L, Li X, Li G, Zhao L, Yang T, Gao Y, Zhang T. Ma J, et al. Hum Genomics. 2023 Jan 4;17(1):1. doi: 10.1186/s40246-022-00449-1. Hum Genomics. 2023. PMID: 36597107 Free PMC article.
BACKGROUND: At present, the hereditary hearing loss homepage, ( https://hereditaryhearingloss.org/ ), includes 258 deafness genes and more than 500 genes that have been reported to cause deafness. ...Most patients (93.5%) were diagnosed with mod …
BACKGROUND: At present, the hereditary hearing loss homepage, ( https://hereditaryhearingloss.org/ ), includes 258 d …
Genetic etiology of hearing loss in Russia.
Posukh OL. Posukh OL. Hum Genet. 2022 Apr;141(3-4):649-663. doi: 10.1007/s00439-021-02327-7. Epub 2021 Aug 6. Hum Genet. 2022. PMID: 34363095 Review.
Prevalence and locus/allelic heterogeneity of the hereditary hearing loss (HL) vary significantly in different human populations. Investigation of the hereditary HL diversity and the evaluation of the factors determining the region-specific landscapes …
Prevalence and locus/allelic heterogeneity of the hereditary hearing loss (HL) vary significantly in different human po …
Molecular genetic landscape of hereditary hearing loss in Pakistan.
Naz S. Naz S. Hum Genet. 2022 Apr;141(3-4):633-648. doi: 10.1007/s00439-021-02320-0. Epub 2021 Jul 25. Hum Genet. 2022. PMID: 34308486 Review.
Approximately 14.5 million Pakistani individuals have a hearing loss and half of these cases may be due to genetic causes. Though significant progress has been made in uncovering genetic variants for recessively inherited nonsyndromic deafness, Pendred syndro …
Approximately 14.5 million Pakistani individuals have a hearing loss and half of these cases may be due to genetic causes. Tho …
Genetic Hearing Loss Affects Cochlear Processing.
Lanting C, Snik A, Leijendeckers J, Bosman A, Pennings R. Lanting C, et al. Genes (Basel). 2022 Oct 22;13(11):1923. doi: 10.3390/genes13111923. Genes (Basel). 2022. PMID: 36360160 Free PMC article.
The relationship between speech recognition and hereditary hearing loss is not straightforward. Underlying genetic defects might determine an impaired cochlear processing of sound. We obtained data from nine groups of patients with a specific type of genetic …
The relationship between speech recognition and hereditary hearing loss is not straightforward. Underlying genetic defe …
Women and Alport syndrome.
Rheault MN. Rheault MN. Pediatr Nephrol. 2012 Jan;27(1):41-6. doi: 10.1007/s00467-011-1836-7. Epub 2011 Mar 5. Pediatr Nephrol. 2012. PMID: 21380623 Free PMC article. Review.
X-linked Alport syndrome (XLAS) is caused by mutations in type IV collagen causing sensorineural hearing loss, eye abnormalities, and progressive kidney dysfunction that results in near universal end-stage renal disease (ESRD) and the need for kidney transplantation …
X-linked Alport syndrome (XLAS) is caused by mutations in type IV collagen causing sensorineural hearing loss, eye abnormaliti …
Unilateral and asymmetric hearing loss in childhood.
Gouveia FN, Jacob-Corteletti LCB, Silva BCS, Araújo ES, Amantini RCB, Oliveira EB, Alvarenga KF. Gouveia FN, et al. Codas. 2020 Jan 27;32(1):e20180280. doi: 10.1590/2317-1782/20192018280. eCollection 2020. Codas. 2020. PMID: 31994593 Free article. English, Portuguese.
The highest risk indicator for hearing loss for both groups was the family history of permanent deafness, which began in childhood. ...CONCLUSION: We observed a greater occurrence of asymmetric bilateral sensorineural hearing loss compared to un …
The highest risk indicator for hearing loss for both groups was the family history of permanent deafness, which began i …
Deafness and Vestibulopathy in Cerebellar Diseases: a Practical Approach.
Barsottini OG, Pedroso JL, Martins CR Jr, França MC Jr, Albernaz PM. Barsottini OG, et al. Cerebellum. 2019 Dec;18(6):1011-1016. doi: 10.1007/s12311-019-01042-4. Cerebellum. 2019. PMID: 31154624 Review.
Some forms of cerebellar ataxias may have cochlear and vestibular involvement and may present with deafness and symptoms or signs of vestibulopathy (dizziness, nystagmus and diplopia). ...In this review, we describe and discuss the most common forms of cerebellar ataxias a …
Some forms of cerebellar ataxias may have cochlear and vestibular involvement and may present with deafness and symptoms or signs of …
228 results