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Quoted phrase not found in phrase index: "Autosomal dominant nonsyndromic hearing loss 6"
Page 1
Presymptomatic diagnosis of nonsyndromic hearing loss by genotyping.
Chen AH, Mueller RF, Prasad SD, Greinwald JH Jr, Manaligod J, Muilenburg AC, Verhoeven K, Van Camp G, Smith RJ. Chen AH, et al. Arch Otolaryngol Head Neck Surg. 1998 Jan;124(1):20-4. doi: 10.1001/archotol.124.1.20. Arch Otolaryngol Head Neck Surg. 1998. PMID: 9440775 Review.
BACKGROUND: Nonsyndromic hearing loss (NSHL) is the most common type of hereditary hearing impairment (HHI). ...OBJECTIVE: To provide presymptomatic diagnosis of HHI to individuals in select families who have participated in linkage studies. DESIGN: In 2 larg …
BACKGROUND: Nonsyndromic hearing loss (NSHL) is the most common type of hereditary hearing impairment (HHI). ...OBJECTI …
WFS1 and GJB2 mutations in patients with bilateral low-frequency sensorineural hearing loss.
Kasakura-Kimura N, Masuda M, Mutai H, Masuda S, Morimoto N, Ogahara N, Misawa H, Sakamoto H, Saito K, Matsunaga T. Kasakura-Kimura N, et al. Laryngoscope. 2017 Sep;127(9):E324-E329. doi: 10.1002/lary.26528. Epub 2017 Mar 8. Laryngoscope. 2017. PMID: 28271504
OBJECTIVE: Evaluating the prevalence of specific gene mutations associated with a certain audiometric configuration facilitates clinical assessment of patients with sensorineural hearing loss (SNHL). WFS1 is responsible for autosomal dominant nonsyndromic …
OBJECTIVE: Evaluating the prevalence of specific gene mutations associated with a certain audiometric configuration facilitates clinical ass …
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 family) wi …
We examined features of the audiograms of 136 individuals, from 28 families, affected by nonsyndromic genetic hearing loss. There were 83 (1 …
Identification of homozygous missense variant in SIX5 gene underlying recessive nonsyndromic hearing impairment.
Kakar MU, Akram M, Zubair Mehboob M, Younus M, Bilal M, Waqas A, Nazir A, Shafi M, Umair M, Ahmad S, Rafeeq MM. Kakar MU, et al. PLoS One. 2022 Jun 16;17(6):e0268078. doi: 10.1371/journal.pone.0268078. eCollection 2022. PLoS One. 2022. PMID: 35709191 Free PMC article.
HI is a genetically and phenotypically heterogeneous disorder. Over the last several years, many genes/loci causing rare autosomal recessive and dominant forms of hearing impairments have been identified, involved in various aspects of ear development. In the curren …
HI is a genetically and phenotypically heterogeneous disorder. Over the last several years, many genes/loci causing rare autosomal re …
Comprehensive genetic screening of KCNQ4 in a large autosomal dominant nonsyndromic hearing loss cohort: genotype-phenotype correlations and a founder mutation.
Naito T, Nishio SY, Iwasa Y, Yano T, Kumakawa K, Abe S, Ishikawa K, Kojima H, Namba A, Oshikawa C, Usami S. Naito T, et al. PLoS One. 2013 May 23;8(5):e63231. doi: 10.1371/journal.pone.0063231. Print 2013. PLoS One. 2013. PMID: 23717403 Free PMC article.
In addition, a review of the reported mutations was performed for better understanding of this deafness gene. The screening using 287 probands from unbiased Japanese autosomal dominant nonsyndromic hearing loss (ADNSHL) families identified 19 fa …
In addition, a review of the reported mutations was performed for better understanding of this deafness gene. The screening using 287 proban …
A clinical guidance to DFNA22 drawn from a Korean cohort study with an autosomal dominant deaf population: A retrospective cohort study.
Kim BJ, Han JH, Park HR, Kim MY, Kim AR, Oh SH, Park WY, Oh DY, Lee S, Choi BY. Kim BJ, et al. J Gene Med. 2018 Jun;20(6):e3019. doi: 10.1002/jgm.3019. Epub 2018 Apr 30. J Gene Med. 2018. PMID: 29607572
BACKGROUND: The MYO6 gene, if altered, can cause nonsyndromic hearing loss (NSHL) either in an autosomal dominant (AD) (DFNA22) or recessive form. ...A known heterozygous truncation variant, p.R205X, reported previously (SH21, SB60), was identif …
BACKGROUND: The MYO6 gene, if altered, can cause nonsyndromic hearing loss (NSHL) either in an autosomal domi …
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 …