تقرير
Exome sequencing reveals novel variants and unique allelic spectrum for hearing impairment in Filipino cochlear implantees.
| العنوان: | Exome sequencing reveals novel variants and unique allelic spectrum for hearing impairment in Filipino cochlear implantees. |
|---|---|
| المؤلفون: | Truong BT; Human Medical Genetics and Genomics Program, University of Colorado School of Medicine, Aurora, Colorado., Yarza TKL; Philippine National Ear Institute, University of the Philippines (UP) Manila-National Institutes of Health (NIH), Manila, Philippines.; Newborn Hearing Screening Reference Center, UP Manila-NIH, Manila, Philippines., Bootpetch Roberts T; Department of Otolaryngology, University of Colorado School of Medicine, Aurora, Colorado., Roberts S; Department of Otolaryngology, University of Colorado School of Medicine, Aurora, Colorado., Xu J; Department of Otolaryngology, University of Colorado School of Medicine, Aurora, Colorado., Steritz MJ; Department of Otolaryngology, University of Colorado School of Medicine, Aurora, Colorado., Tobias-Grasso CAM; MED-EL, Innsbruck, Austria., Azamian M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., Lalani SR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., Mohlke KL; Department of Genetics, University of North Carolina, Chapel Hill, North Carolina., Lee NR; Office of Population Studies Foundation and Department of Anthropology, Sociology and History, University of San Carlos, Cebu, Philippines., Cutiongco-de la Paz EM; UP Manila-NIH, Manila 1000, Philippines.; Philippine Genome Center, Quezon City, Philippines., Reyes-Quintos MRT; Philippine National Ear Institute, University of the Philippines (UP) Manila-National Institutes of Health (NIH), Manila, Philippines.; Newborn Hearing Screening Reference Center, UP Manila-NIH, Manila, Philippines.; UP Manila-NIH, Manila 1000, Philippines.; Department of Otorhinolaryngology, UP Manila College of Medicine-Philippine General Hospital, Manila, Philippines., Santos-Cortez RLP; Human Medical Genetics and Genomics Program, University of Colorado School of Medicine, Aurora, Colorado.; Philippine National Ear Institute, University of the Philippines (UP) Manila-National Institutes of Health (NIH), Manila, Philippines.; Department of Otolaryngology, University of Colorado School of Medicine, Aurora, Colorado., Chiong CM; Philippine National Ear Institute, University of the Philippines (UP) Manila-National Institutes of Health (NIH), Manila, Philippines.; Newborn Hearing Screening Reference Center, UP Manila-NIH, Manila, Philippines.; Department of Otorhinolaryngology, UP Manila College of Medicine-Philippine General Hospital, Manila, Philippines. |
| المصدر: | Clinical genetics [Clin Genet] 2019 May; Vol. 95 (5), pp. 634-636. Date of Electronic Publication: 2019 Mar 04. |
| نوع المنشور: | Letter; Research Support, Non-U.S. Gov't |
| اللغة: | English |
| بيانات الدورية: | Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: Copenhagen, Munksgaard. |
| مواضيع طبية MeSH: | Alleles* , Exome Sequencing*, Hearing Loss/*genetics , Mutation/*genetics, Adult ; Child ; Cochlear Implants ; Humans ; Philippines |
| References: | Hum Genet. 2016 Apr;135(4):441-450. (PMID: 26969326) Kidney Int. 2017 Dec;92(6):1493-1506. (PMID: 28844315) J Proteome Res. 2017 Nov 3;16(11):4000-4008. (PMID: 28895401) Otol Neurotol. 2018 Sep;39(8):e726-e730. (PMID: 30113565) |
| معلومات مُعتمدة: | P30 ES010126 United States ES NIEHS NIH HHS; P20 RR020649 United States RR NCRR NIH HHS; R01 TW005596 United States TW FIC NIH HHS; R01 HL085144 United States HL NHLBI NIH HHS; P30 DK056350 United States DK NIDDK NIH HHS; R01 TW008288 United States TW FIC NIH HHS; R01 DK078150 United States DK NIDDK NIH HHS |
| تواريخ الأحداث: | Date Created: 20190305 Date Completed: 20200706 Latest Revision: 20221207 |
| رمز التحديث: | 20221213 |
| مُعرف محوري في PubMed: | PMC6499369 |
| DOI: | 10.1111/cge.13515 |
| PMID: | 30828794 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 1399-0004 |
|---|---|
| DOI: | 10.1111/cge.13515 |