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Quoted phrase not found in phrase index: "Autosomal recessive nonsyndromic hearing loss 12"
Page 1
Non-Syndromic Hearing Loss in a Romanian Population: Carrier Status and Frequent Variants in the GJB2 Gene.
Riza AL, Alkhzouz C, Farcaș M, Pîrvu A, Miclea D, Mihuț G, Pleșea RM, Ștefan D, Drodar M, Lazăr C, On Behalf Of The Hint Study, On Behalf Of The Fuse Study, Ioana M, Popp R. Riza AL, et al. Genes (Basel). 2022 Dec 26;14(1):69. doi: 10.3390/genes14010069. Genes (Basel). 2022. PMID: 36672810 Free PMC article.
The genetic causes of autosomal recessive nonsyndromic hearing loss (ARNSHL) are heterogeneous and highly ethnic-specific. ...Targeted allele-specific PCR/restriction fragment length polymorphism (RFLP) established definite ethio-pathogenical di …
The genetic causes of autosomal recessive nonsyndromic hearing loss (ARNSHL) are heterogeneous and highly …
Homozygous mutations in Pakistani consanguineous families with prelingual nonsyndromic hearing loss.
Park HR, Kanwal S, Lim SO, Nam DE, Choi YJ, Chung KW. Park HR, et al. Mol Biol Rep. 2020 Dec;47(12):9979-9985. doi: 10.1007/s11033-020-06037-7. Epub 2020 Dec 2. Mol Biol Rep. 2020. PMID: 33269433
Autosomal recessive nonsyndromic hearing loss (DFNB) is relatively frequent in Pakistan, which is thought to be mainly due to relatively frequent consanguinity. ...
Autosomal recessive nonsyndromic hearing loss (DFNB) is relatively frequent in Pakistan, which is thought …
Identification of novel variants in Iranian consanguineous pedigrees with nonsyndromic hearing loss by next-generation sequencing.
Bitarafan F, Seyedena SY, Mahmoudi M, Garshasbi M. Bitarafan F, et al. J Clin Lab Anal. 2020 Dec;34(12):e23544. doi: 10.1002/jcla.23544. Epub 2020 Aug 30. J Clin Lab Anal. 2020. PMID: 32864763 Free PMC article.
BACKGROUND: The extremely high genetic heterogeneity of hearing loss due to diverse group of genes encoding proteins required for development, function, and maintenance of the complex auditory system makes the genetic diagnosis of this disease challenging. Up to now, 121 differen …
BACKGROUND: The extremely high genetic heterogeneity of hearing loss due to diverse group of genes encoding proteins required for developmen …
Identification of TMC1 as a relatively common cause for nonsyndromic hearing loss in the Saudi population.
Ramzan K, Al-Owain M, Al-Numair NS, Afzal S, Al-Ageel S, Al-Amer S, Al-Baik L, Al-Otaibi GF, Hashem A, Al-Mashharawi E, Basit S, Al-Mazroea AH, Softah A, Sogaty S, Imtiaz F. Ramzan K, et al. Am J Med Genet B Neuropsychiatr Genet. 2020 Apr;183(3):172-180. doi: 10.1002/ajmg.b.32774. Epub 2019 Dec 19. Am J Med Genet B Neuropsychiatr Genet. 2020. PMID: 31854501
The precise function of TMC1 protein in the inner ear is unknown, although it is predicted to be involved in functional maturation of cochlear hair cells. TMC1 mutations result in autosomal recessive (DFNB7/11) and sometimes dominant (DFNA36) nonsyndromic HL. ...Eac …
The precise function of TMC1 protein in the inner ear is unknown, although it is predicted to be involved in functional maturation of cochle …
Benefits of Exome Sequencing in Children with Suspected Isolated Hearing Loss.
Van Heurck R, Carminho-Rodrigues MT, Ranza E, Stafuzza C, Quteineh L, Gehrig C, Hammar E, Guipponi M, Abramowicz M, Senn P, Guinand N, Cao-Van H, Paoloni-Giacobino A. Van Heurck R, et al. Genes (Basel). 2021 Aug 20;12(8):1277. doi: 10.3390/genes12081277. Genes (Basel). 2021. PMID: 34440452 Free PMC article.
In adults, the two patients showed an autosomal dominant inheritance pattern. Among the 32 children, 17 (53.1%) had nonsyndromic hearing loss and 15 (46.7%) had syndromic hearing loss. One adult was diagnosed with syndromic hearing loss and one with …
In adults, the two patients showed an autosomal dominant inheritance pattern. Among the 32 children, 17 (53.1%) had nonsyndromic …
Prevalence of GJB2 Mutations in Affected Individuals from United Arab Emirates with Autosomal Recessive Nonsyndromic Hearing Loss.
Tlili A, Al Mutery A, Kamal Eddine Ahmad Mohamed W, Mahfood M, Hadj Kacem H. Tlili A, et al. Genet Test Mol Biomarkers. 2017 Nov;21(11):686-691. doi: 10.1089/gtmb.2017.0130. Epub 2017 Oct 10. Genet Test Mol Biomarkers. 2017. PMID: 29016196
RESULTS AND DISCUSSION: Nine cases with bi-allelic mutations and three cases with mono-allelic mutations were detected in 12 out of 50 patients (24%). The homozygous mutation c.35delG was identified as the cause of hearing loss in six participants (12%). ...The alle …
RESULTS AND DISCUSSION: Nine cases with bi-allelic mutations and three cases with mono-allelic mutations were detected in 12 out of 5 …
Preimplantation genetic diagnosis (PGD) for nonsyndromic deafness by polar body and blastomere biopsy.
Altarescu G, Eldar-Geva T, Brooks B, Zylber-Haran E, Varshaver I, Margalioth EJ, Levy-Lahad E, Renbaum P. Altarescu G, et al. J Assist Reprod Genet. 2009 Jul;26(7):391-7. doi: 10.1007/s10815-009-9335-5. J Assist Reprod Genet. 2009. PMID: 19728075 Free PMC article.
PURPOSE: Development of an efficient and reliable PGD protocol for nonsyndromic deafness, by polar body (PB) and blastomere PGD. METHODS: The GJB2/GJB6 mutations along with 12 polymorphic markers were used in PGD analysis of blastomeres or polar bodies in 14 …
PURPOSE: Development of an efficient and reliable PGD protocol for nonsyndromic deafness, by polar body (PB) and blastomere PG …
Identification of Novel CDH23 Variants Causing Moderate to Profound Progressive Nonsyndromic Hearing Loss.
Ramzan K, Al-Numair NS, Al-Ageel S, Elbaik L, Sakati N, Al-Hazzaa SAF, Al-Owain M, Imtiaz F. Ramzan K, et al. Genes (Basel). 2020 Dec 9;11(12):1474. doi: 10.3390/genes11121474. Genes (Basel). 2020. PMID: 33316915 Free PMC article.
Mutant alleles of CDH23, a gene that encodes a putative calcium-dependent cell-adhesion glycoprotein with multiple cadherin-like domains, are responsible for both recessive DFNB12 nonsyndromic hearing loss (NSHL) and Usher syndrome 1D (USH1D). ...The p …
Mutant alleles of CDH23, a gene that encodes a putative calcium-dependent cell-adhesion glycoprotein with multiple cadherin-like domains, ar …
Improving the Management of Patients with Hearing Loss by the Implementation of an NGS Panel in Clinical Practice.
García-García G, Berzal-Serrano A, García-Díaz P, Villanova-Aparisi R, Juárez-Rodríguez S, de Paula-Vernetta C, Cavallé-Garrido L, Jaijo T, Armengot-Carceller M, Millán JM, Aller E. García-García G, et al. Genes (Basel). 2020 Dec 7;11(12):1467. doi: 10.3390/genes11121467. Genes (Basel). 2020. PMID: 33297549 Free PMC article. Clinical Trial.
Variant(s) responsible for the disease were detected in a 40% of families including autosomal recessive (AR), autosomal dominant (AD) and X-linked patterns of inheritance. ...
Variant(s) responsible for the disease were detected in a 40% of families including autosomal recessive (AR), autosomal …
Nonsyndromic hearing loss: an analysis of audiograms.
Liu X, Xu L. Liu X, et al. Ann Otol Rhinol Laryngol. 1994 Jun;103(6):428-33. doi: 10.1177/000348949410300602. Ann Otol Rhinol Laryngol. 1994. PMID: 8203808
We examined features of the audiograms of 136 individuals, from 28 families, affected by nonsyndromic genetic hearing loss. There were 83 (12 families) with autosomal dominant (AD) loss, 50 (15 families) with autosomal recessive (AR) loss, and 3 (1 fam …
We examined features of the audiograms of 136 individuals, from 28 families, affected by nonsyndromic genetic hearing loss. There were 83 ( …
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