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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 …
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 …
Hair phenotype in non-syndromic deafness.
Volo T, Sathiyaseelan T, Astolfi L, Guaran V, Trevisi P, Emanuelli E, Martini A. Volo T, et al. Int J Pediatr Otorhinolaryngol. 2013 Aug;77(8):1280-5. doi: 10.1016/j.ijporl.2013.05.010. Epub 2013 Jun 14. Int J Pediatr Otorhinolaryngol. 2013. PMID: 23751281
The GJB2 gene is located on chromosome 13q12 and it encodes the connexin 26, a transmembrane protein involved in cell-cell attachment of almost all tissues. GJB2 mutations cause autosomal recessive (DFNB1) and sometimes dominant (DFNA3) non-syndromic sensorineural h …
The GJB2 gene is located on chromosome 13q12 and it encodes the connexin 26, a transmembrane protein involved in cell-cell attachment of alm …
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 ( …
Autosomal recessive and sporadic deafness in Morocco: high frequency of the 35delG GJB2 mutation and absence of the 342-kb GJB6 variant.
Gazzaz B, Weil D, Raïs L, Akhyat O, Azeddoug H, Nadifi S. Gazzaz B, et al. Hear Res. 2005 Dec;210(1-2):80-4. doi: 10.1016/j.heares.2005.08.001. Epub 2005 Oct 21. Hear Res. 2005. PMID: 16243461
Mutations in the gene, GJB2 Gap junction type 1), encoding the gap junction protein connexin-26 on chromosome 13q11 may be responsible for up 50% of autosomal recessive nonsyndromic hearing loss cases (ARNSHL), and for 15-30% of sporadic cases. …
Mutations in the gene, GJB2 Gap junction type 1), encoding the gap junction protein connexin-26 on chromosome 13q11 may be responsible for u …
A Novel Cadherin 23 Variant for Hereditary Hearing Loss Reveals Additional Support for a DFNB12 Nonsyndromic Phenotype of CDH23.
Koohiyan M, Hashemzadeh-Chaleshtori M, Salehi M, Abtahi H, Noori-Daloii MR, Tabatabaiefar MA. Koohiyan M, et al. Audiol Neurootol. 2020;25(5):258-262. doi: 10.1159/000506500. Epub 2020 Jun 2. Audiol Neurootol. 2020. PMID: 32485727
Direct sequencing of GJB2 and genetic linkage analysis of 5 other most common recessive nonsyndromic HL (ARNSHL) genes were accomplished. Next-generation sequencing (NGS) was utilized to reveal the possible genetic etiology of the disease. ...
Direct sequencing of GJB2 and genetic linkage analysis of 5 other most common recessive nonsyndromic HL (ARNSHL) genes were accomplis …
A quantitative cSMART assay for noninvasive prenatal screening of autosomal recessive nonsyndromic hearing loss caused by GJB2 and SLC26A4 mutations.
Han M, Li Z, Wang W, Huang S, Lu Y, Gao Z, Wang L, Kang D, Li L, Liu Y, Xu M, Cram DS, Dai P. Han M, et al. Genet Med. 2017 Dec;19(12):1309-1316. doi: 10.1038/gim.2017.54. Epub 2017 May 25. Genet Med. 2017. PMID: 28541280 Free article.
PurposeThe aim of this study was to assess the performance of a noninvasive prenatal screening (NIPS) assay for accurate fetal genotyping of pregnancies at genetic risk for autosomal recessive nonsyndromic hearing loss (ARNSHL).MethodsA total of …
PurposeThe aim of this study was to assess the performance of a noninvasive prenatal screening (NIPS) assay for accurate fetal genotyping of …
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 …
Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants.
Shearer AE, Eppsteiner RW, Booth KT, Ephraim SS, Gurrola J 2nd, Simpson A, Black-Ziegelbein EA, Joshi S, Ravi H, Giuffre AC, Happe S, Hildebrand MS, Azaiez H, Bayazit YA, Erdal ME, Lopez-Escamez JA, Gazquez I, Tamayo ML, Gelvez NY, Leal GL, Jalas C, Ekstein J, Yang T, Usami S, Kahrizi K, Bazazzadegan N, Najmabadi H, Scheetz TE, Braun TA, Casavant TL, LeProust EM, Smith RJ. Shearer AE, et al. Am J Hum Genet. 2014 Oct 2;95(4):445-53. doi: 10.1016/j.ajhg.2014.09.001. Epub 2014 Sep 25. Am J Hum Genet. 2014. PMID: 25262649 Free PMC article.
Ethnic-specific differences in minor allele frequency impact variant categorization for genetic screening of nonsyndromic hearing loss (NSHL) and other genetic disorders. We sought to evaluate all previously reported pathogenic NSHL variants in the context of …
Ethnic-specific differences in minor allele frequency impact variant categorization for genetic screening of nonsyndromic hearing …
Prevalence of GJB2 (connexin-26) and GJB6 (connexin-30) mutations in a cohort of 300 Brazilian hearing-impaired individuals: implications for diagnosis and genetic counseling.
Batissoco AC, Abreu-Silva RS, Braga MC, Lezirovitz K, Della-Rosa V, Alfredo T Jr, Otto PA, Mingroni-Netto RC. Batissoco AC, et al. Ear Hear. 2009 Feb;30(1):1-7. doi: 10.1097/AUD.0b013e31819144ad. Ear Hear. 2009. PMID: 19125024
OBJECTIVE: Hereditary nonsyndromic deafness is an autosomal recessive condition in about 80% of cases, and point mutations in the GJB2 gene (connexin 26) and two deletions in the GJB6 gene (connexin 30), del(GJB6-D13S1830) and del(GJB6-D13S1854), are r …
OBJECTIVE: Hereditary nonsyndromic deafness is an autosomal recessive condition in about 80% of cases, and point …
12 results