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Quoted phrase not found in phrase index: "Autosomal recessive nonsyndromic hearing loss 31"
Page 1
DFNB66 and DFNB67 loci are non allelic and rarely contribute to autosomal recessive nonsyndromic hearing loss.
Bensaïd M, Hmani-Aifa M, Hammami B, Tlili A, Hakim B, Charfeddine I, Ayadi H, Ghorbel A, Castillo ID, Masmoudi S. Bensaïd M, et al. Eur J Med Genet. 2011 Nov-Dec;54(6):e565-9. doi: 10.1016/j.ejmg.2011.07.003. Epub 2011 Jul 26. Eur J Med Genet. 2011. PMID: 21816241
In the DFNB66 family, sequencing showed absence of mutations in the untranslated regions and the predicted promoter sequence of LHFPL5. Analysis of five microsatellites in the 6p21.31-22.3 region and screening of the LHFPL5 gene by DNA heteroduplex analysis in DHPLC …
In the DFNB66 family, sequencing showed absence of mutations in the untranslated regions and the predicted promoter sequence of LHFPL …
Four novel TMC1 (DFNB7/DFNB11) mutations in Turkish patients with congenital autosomal recessive nonsyndromic hearing loss.
Kalay E, Karaguzel A, Caylan R, Heister A, Cremers FP, Cremers CW, Brunner HG, de Brouwer AP, Kremer H. Kalay E, et al. Hum Mutat. 2005 Dec;26(6):591. doi: 10.1002/humu.9384. Hum Mutat. 2005. PMID: 16287143
Mutations in the transmembrane channel-like gene 1 (TMC1) cause prelingual autosomal recessive (DFNB7/11) and postlingual progressive autosomal dominant (DFNA36) nonsyndromic hearing loss. To determine the genetic causes of autosomal …
Mutations in the transmembrane channel-like gene 1 (TMC1) cause prelingual autosomal recessive (DFNB7/11) and postlingual prog …
Mapping of a novel autosomal recessive nonsyndromic deafness locus (DFNB46) to chromosome 18p11.32-p11.31.
Mir A, Ansar M, Chahrour MH, Pham TL, Wajid M, Haque S, Yan K, Ahmad W, Leal SM. Mir A, et al. Am J Med Genet A. 2005 Feb 15;133A(1):23-6. doi: 10.1002/ajmg.a.30516. Am J Med Genet A. 2005. PMID: 15637723 Free PMC article.
Hereditary nonsyndromic deafness (NSD) is extremely heterogeneous. Autosomal recessive (AR) forms account for approximately 75% of genetic cases. ...A novel locus (DFNB46) for ARNSD was mapped to chromosome 18p11.32-p11.31 in a five-generation P …
Hereditary nonsyndromic deafness (NSD) is extremely heterogeneous. Autosomal recessive (AR) forms account for ap …
Sequence variants of the DFNB31 gene among Usher syndrome patients of diverse origin.
Aller E, Jaijo T, van Wijk E, Ebermann I, Kersten F, García-García G, Voesenek K, Aparisi MJ, Hoefsloot L, Cremers C, Díaz-Llopis M, Pennings R, Bolz HJ, Kremer H, Millán JM. Aller E, et al. Mol Vis. 2010 Mar 23;16:495-500. Mol Vis. 2010. PMID: 20352026 Free PMC article.
PURPOSE: It has been demonstrated that mutations in deafness, autosomal recessive 31 (DFNB31), the gene encoding whirlin, is responsible for nonsyndromic hearing loss (NSHL; DFNB31) and Usher syndrome type II (USH2D). ...Most variants wer …
PURPOSE: It has been demonstrated that mutations in deafness, autosomal recessive 31 (DFNB31), the gene encoding whirli …