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Quoted phrase not found in phrase index: "Hearing loss, autosomal recessive 114"
Page 1
Screening for SH3TC2 gene mutations in a series of demyelinating recessive Charcot-Marie-Tooth disease (CMT4).
Piscosquito G, Saveri P, Magri S, Ciano C, Gandioli C, Morbin M, Bella DD, Moroni I, Taroni F, Pareyson D. Piscosquito G, et al. J Peripher Nerv Syst. 2016 Sep;21(3):142-9. doi: 10.1111/jns.12175. J Peripher Nerv Syst. 2016. PMID: 27231023 Free PMC article.
Charcot-Marie-Tooth disease type 4C (CMT4C) is an autosomal recessive (AR) demyelinating neuropathy associated to SH3TC2 mutations, characterized by early onset, spine deformities, and cranial nerve involvement. ...Scoliosis was present in 11 patients (severe in 4), …
Charcot-Marie-Tooth disease type 4C (CMT4C) is an autosomal recessive (AR) demyelinating neuropathy associated to SH3TC2 mutat …
Evidence of a founder effect for the 235delC mutation of GJB2 (connexin 26) in east Asians.
Yan D, Park HJ, Ouyang XM, Pandya A, Doi K, Erdenetungalag R, Du LL, Matsushiro N, Nance WE, Griffith AJ, Liu XZ. Yan D, et al. Hum Genet. 2003 Dec;114(1):44-50. doi: 10.1007/s00439-003-1018-1. Epub 2003 Sep 18. Hum Genet. 2003. PMID: 14505035
Mutations in the GJB2 gene encoding connexin 26 (Cx26) are a major cause of autosomal recessive and sporadic cases of congenital deafness in most populations. ...In order to study the origin of 235delC among east Asians, we analyzed single-nucleotide polymorphisms ( …
Mutations in the GJB2 gene encoding connexin 26 (Cx26) are a major cause of autosomal recessive and sporadic cases of congenit …
Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa.
Weston MD, Eudy JD, Fujita S, Yao S, Usami S, Cremers C, Greenberg J, Ramesar R, Martini A, Moller C, Smith RJ, Sumegi J, Kimberling WJ. Weston MD, et al. Am J Hum Genet. 2000 Apr;66(4):1199-210. doi: 10.1086/302855. Epub 2000 Mar 22. Am J Hum Genet. 2000. PMID: 10729113 Free PMC article.
Usher syndrome type IIa (USHIIa) is an autosomal recessive disorder characterized by moderate to severe sensorineural hearing loss and progressive retinitis pigmentosa. ...These domains are observed in other protein components of the basal lamin …
Usher syndrome type IIa (USHIIa) is an autosomal recessive disorder characterized by moderate to severe sensorineural heari …
Erratum: analysis of DNA elements that modulate myosin VIIa expression in humans.
Orten DJ, Weston MD, Kelley PM, Cremers CW, Wagenaar M, Jacobson SG, Kimberling WJ. Orten DJ, et al. Hum Mutat. 2000 Jan;15(1):114-5. doi: 10.1002/(SICI)1098-1004(200001)15:1<114::AID-HUMU21>3.0.CO;2-4. Hum Mutat. 2000. PMID: 10612833
Usher syndromeIb (USH1B), an autosomal recessive disorder caused by mutations in myosin VIIa (MYO7A), is characterized by congenital profound hearing loss, vestibular abnormalities and retinitis pigmentosa. ...However, in all 5 families, -2568 A>T w …
Usher syndromeIb (USH1B), an autosomal recessive disorder caused by mutations in myosin VIIa (MYO7A), is characterized by cong …