| Tài liệu tham khảo |
Loại |
Chi tiết |
| [2] S. Y. Nishio and S. I. Usami, “Deafness Gen Variations in a 1120 Nonsyndromic Hearing Loss Cohort: Molecular Epidemiology and Deafness Mutation Spectrum of Patients in Japan,” Ann. Otol. Rhinol. Laryngol., vol |
Sách, tạp chí |
| Tiêu đề: |
Deafness Gen Variations in a 1120 Nonsyndromic Hearing Loss Cohort: Molecular Epidemiology and Deafness Mutation Spectrum of Patients in Japan,” "Ann. Otol. Rhinol. Laryngol |
|
| [3] H. Wang et al., “A novel dominant GJB2 (DFNA3) mutation in a Chinese family.,” Sci. Rep., vol. 7, p. 34425, Jan. 2017 |
Sách, tạp chí |
| Tiêu đề: |
et al.", “A novel dominant "GJB2" (DFNA3) mutation in a Chinese family.,” "Sci. Rep |
|
| [4] R. L. Alford et al., “American college of medical genetics and genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss,”Genet. Med., vol. 16, no. 4, pp. 347–355, 2014 |
Sách, tạp chí |
| Tiêu đề: |
et al.", “American college of medical genetics and genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss,” "Genet. Med |
|
| [5] T. Yang, X. Wei, Y. Chai, L. Li, and H. Wu, “Genetic etiology study of the non-syndromic deafness in Chinese Hans by targeted next-generation sequencing.,” Orphanet J. Rare Dis., vol. 8, p. 85, Jun. 2013 |
Sách, tạp chí |
| Tiêu đề: |
Genetic etiology study of the non-syndromic deafness in Chinese Hans by targeted next-generation sequencing.,” "Orphanet J. Rare Dis |
|
| [6] S. Nishio and S. Usami, “Deafness Gen Variations in a 1120 Nonsyndromic Hearing Loss Cohort,” Ann. Otol. Rhinol. Laryngol., vol. 124, no. 1_suppl, p.49S–60S, May 2015 |
Sách, tạp chí |
| Tiêu đề: |
Deafness Gen Variations in a 1120 Nonsyndromic Hearing Loss Cohort,” "Ann. Otol. Rhinol. Laryngol |
|
| [7] T. Naito et al., “Comprehensive genetic screening of KCNQ4 in a large autosomal dominant nonsyndromic hearing loss cohort: genotype-phenotype correlations and a founder mutation.,” PLoS One, vol. 8, no. 5, p. e63231, 2013 |
Sách, tạp chí |
| Tiêu đề: |
et al.", “Comprehensive genetic screening of "KCNQ4" in a large autosomal dominant nonsyndromic hearing loss cohort: genotype-phenotype correlations and a founder mutation.,” "PLoS One |
|
| [8] D. K. Chan, I. Schrijver, and K. W. Chang, “Connexin-26–associated deafness: Phenotypic variability and progression of hearing loss,” Genet.Med., vol. 12, no. 3, pp. 174–181, Mar. 2010 |
Sách, tạp chí |
| Tiêu đề: |
Connexin-26–associated deafness: Phenotypic variability and progression of hearing loss,” "Genet. "Med |
|
| [9] A. Pandya, K. S. Arnos, X. J. Xia, K. O. Welch, and S. H. Blanton, “Frequency and distribution of GJB2 ( connexin 26 ) and GJB6 ( connexin 30 |
Sách, tạp chí |
| Tiêu đề: |
Frequency and distribution of "GJB2" ( connexin 26 ) and "GJB6 |
|
| [10] R. Birkenhọger, N. Prera, A. Aschendorff, R. Laszig, and S. Arndt, “A novel homozygous mutation in the EC1/EC2 interaction domain of the gap junction complex connexon 26 leads to profound hearing impairment.,” Biomed Res.Int., vol. 2014, p. 307976, Jan. 2014 |
Sách, tạp chí |
| Tiêu đề: |
A novel homozygous mutation in the EC1/EC2 interaction domain of the gap junction complex connexon 26 leads to profound hearing impairment.,” "Biomed Res. "Int |
|
| [11] X. Z. Liu et al., “Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss.,” Hum. Mol. Genet., vol. 9, no. 1, pp.63–7, Jan. 2000 |
Sách, tạp chí |
| Tiêu đề: |
et al.", “Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss.,” "Hum. Mol. Genet |
|
| [12] F. J. del Castillo et al., “A novel deletion involving the connexin-30 gen, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gen (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment.,”J. Med. Genet., vol. 42, no. 7, pp. 588–94, Jul. 2005 |
Sách, tạp chí |
| Tiêu đề: |
et al.", “A novel deletion involving the connexin-30 gen, del("GJB6"-d13s1854), found in trans with mutations in the "GJB2" gen (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment.,” "J. Med. Genet |
|
| [13] A. Bakhchane et al., “Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss.” |
Sách, tạp chí |
| Tiêu đề: |
et al.", “Novel compound heterozygous "MYO7A" mutations in Moroccan families with autosomal recessive non-syndromic hearing loss |
|
| [14] M. Miyagawa et al., “Mutations in the MYO15A Gen Are a Significant Cause of Nonsyndromic Hearing Loss,” Ann. Otol. Rhinol. Laryngol., vol. 124, no |
Sách, tạp chí |
| Tiêu đề: |
et al.", “Mutations in the "MYO15A" Gen Are a Significant Cause of Nonsyndromic Hearing Loss,” "Ann. Otol. Rhinol. Laryngol |
|
| [15] L. D. Huong, “Tầm soát khiếm thính trẻ sơ sinh tại bệnh viện phụ sản quốc tế Sài Gòn” pp. 1–7, 2015 |
Sách, tạp chí |
| Tiêu đề: |
Tầm soát khiếm thính trẻ sơ sinh tại bệnh viện phụ sản quốc tế Sài Gòn |
|
| [16] “Sàng Lọc Khiếm Thính Ở Trẻ Sơ Sinh,” Tài liệu hướng dẫn lâm sàng, NXB Trường Đại Học Y Dược Huế, 2012 |
Sách, tạp chí |
| Tiêu đề: |
Sàng Lọc Khiếm Thính Ở Trẻ Sơ Sinh,” "Tài liệu hướng dẫn lâm sàng |
| Nhà XB: |
NXB Trường Đại Học Y Dược Huế |
|
| [17] L. R. Lustig et al., “GJB2 Gen Mutations in Cochlear Implant Recipients,” Arch. Otolaryngol. Neck Surg., vol. 130, no. 5, p. 541, May 2004 |
Sách, tạp chí |
| Tiêu đề: |
et al.", “"GJB2" Gen Mutations in Cochlear Implant Recipients,” "Arch. Otolaryngol. Neck Surg |
|
| [18] A. M. H. Korver et al., “Congenital hearing loss,” Nat. Rev. Dis. Prim., vol. 3, 2017 |
Sách, tạp chí |
| Tiêu đề: |
et al.", “Congenital hearing loss,” "Nat. Rev. Dis. Prim |
|
| [19] D. Yan, M. Tekin, S. H. Blanton, and X. Z. Liu, “Next-generation sequencing in genetic hearing loss.,” Genet. Test. Mol. Biomarkers, vol. 17, no. 8, pp.581–7, Aug. 2013 |
Sách, tạp chí |
| Tiêu đề: |
Next-generation sequencing in genetic hearing loss.,” "Genet. Test. Mol. Biomarkers |
|
| [20] E. R. Mardis, “Next-Generation Sequencing Platforms,” Annu. Rev. Anal. Chem., vol. 6, no. 1, pp. 287–303, 2013 |
Sách, tạp chí |
| Tiêu đề: |
Next-Generation Sequencing Platforms,” "Annu. Rev. Anal. "Chem |
|
| [21] E. L. Van Dijk, H. Auger, Y. Jaszczyszyn, and C. Thermes, “Ten years of next-generation sequencing technology,” Trends Genet., pp. 1–9, 2014 |
Sách, tạp chí |
| Tiêu đề: |
Ten years of next-generation sequencing technology,” "Trends Genet |
|