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searching for Nonsyndromic deafness 24 found (68 total)

MYO1F (595 words) [view diff] exact match in snippet view article find links to article

adhesion and motility. It is a candidate gene for (among other things) nonsyndromic deafness. GRCh38: Ensembl release 89: ENSG00000142347 – Ensembl, May 2017

CNTNAP2 (1,398 words) [view diff] exact match in snippet view article find links to article

may represent a positional candidate gene for the DFNB13 form of nonsyndromic deafness. CNTNAP2 has been associated with autism spectrum disorder but accounts

CRYM (1,041 words) [view diff] exact match in snippet view article find links to article

(January 2003). "Identification of CRYM as a candidate responsible for nonsyndromic deafness, through cDNA microarray analysis of human cochlear and vestibular

MARVELD2 (405 words) [view diff] exact match in snippet view article find links to article

Ramzan K, Shaikh RS, Ahmad J, et al. (2005). "A new locus for nonsyndromic deafness DFNB49 maps to chromosome 5q12.3-q14.1". Hum. Genet. 116 (1–2):

Otogelin (271 words) [view diff] exact match in snippet view article find links to article

stimulation resistance. Mutations in this gene cause autosomal recessive nonsyndromic deafness, type 18B. Alternative splicing of this gene results in multiple

Alpha-tubulin 3C (1,187 words) [view diff] exact match in snippet view article find links to article

pericentromeric region of chromosome 13 surrounding the loci for neurosensory nonsyndromic deafness (DFNB1 and DFNA3) and limb-girdle muscular dystrophy type 2C (LGMD2C)"

DIAPH2 (709 words) [view diff] exact match in snippet view article find links to article

ED, Lee MK, Morrow JE, Welcsh PL, León PE, King MC (Dec 1997). "Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila

KCNQ4 (1,158 words) [view diff] exact match in snippet view article find links to article

"Identification of novel mutations in the KCNQ4 gene of patients with nonsyndromic deafness from Taiwan". Audiol. Neurootol. 12 (1): 20–6. doi:10.1159/000096154

ABCG1 (1,099 words) [view diff] exact match in snippet view article find links to article

Bonné-Tamir B (Aug 2000). "Refined localization of autosomal recessive nonsyndromic deafness DFNB10 locus using 34 novel microsatellite markers, genomic structure

LCCL domain (415 words) [view diff] exact match in snippet view article find links to article

1998). "Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction". Nat. Genet. 20 (3): 299–303. doi:10

NDUFV3 (632 words) [view diff] exact match in snippet view article find links to article

J, et al. (2001). "Refined localization of autosomal recessive nonsyndromic deafness DFNB10 locus using 34 novel microsatellite markers, genomic structure

CDH23 (1,364 words) [view diff] case mismatch in snippet view article find links to article

Heterogeneity: A Profile of 107 Diverse Families with Usher Syndrome and Nonsyndromic Deafness". The American Journal of Human Genetics. 71 (2): 262–75. doi:10

DIAPH1 (1,260 words) [view diff] exact match in snippet view article find links to article

Lee MK, Morrow JE, Welcsh PL, León PE, King MC (November 1997). "Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila

PCDHGC3 (723 words) [view diff] exact match in snippet view article find links to article

ED, Lee MK, Morrow JE, Welcsh PL, Leon PE, King MC (Dec 1997). "Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila

Trefoil factor 2 (1,041 words) [view diff] exact match in snippet view article find links to article

J, et al. (2001). "Refined localization of autosomal recessive nonsyndromic deafness DFNB10 locus using 34 novel microsatellite markers, genomic structure

Trefoil factor 3 (1,649 words) [view diff] exact match in snippet view article find links to article

J, et al. (2001). "Refined localization of autosomal recessive nonsyndromic deafness DFNB10 locus using 34 novel microsatellite markers, genomic structure

Pendrin (2,276 words) [view diff] exact match in snippet view article find links to article

hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4". Nature Genetics. 12 (4): 421–3. doi:10.1038/ng0496-421

Cochlea (3,522 words) [view diff] exact match in snippet view article find links to article

Mutations in gap-junction genes have been found to cause syndromic and nonsyndromic deafness. Certain connexins, including connexin 30 and connexin 26, are prevalent

Prelingual deafness (2,804 words) [view diff] exact match in snippet view article find links to article

Duman, Duygu; Tekin, Mustafa (2012-06-01). "Autosomal recessive nonsyndromic deafness genes: a review". Frontiers in Bioscience: A Journal and Virtual

Glutamate transporter (2,828 words) [view diff] exact match in snippet view article find links to article

SLC17A8 encoding vesicular glutamate transporter-3, VGLUT3, underlies nonsyndromic deafness DFNA25 and inner hair cell dysfunction in null mice". American Journal

Diablo homolog (2,433 words) [view diff] exact match in snippet view article find links to article

cancers, mutations in DIABLO is associated with young-adult onset of nonsyndromic deafness-64. Diablo homolog has been shown to interact with: cIAP1, cIAP2

USH1C (2,858 words) [view diff] exact match in snippet view article find links to article

each USH1c mutation determines whether the resulting phenotype is nonsyndromic deafness or Usher syndrome. A common mutation that causes Usher syndrome

Taosheng Huang (1,438 words) [view diff] exact match in snippet view article find links to article

encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome". PLOS Genetics. 11 (3): e1005097. doi:10.1371/journal

Major facilitator superfamily (5,029 words) [view diff] exact match in snippet view article find links to article

SLC17A8 encoding vesicular glutamate transporter-3, VGLUT3, underlies nonsyndromic deafness DFNA25 and inner hair cell dysfunction in null mice". American Journal