المؤلفون: Frank, DN, Giese, APJ, Hafren, L, Bootpetch, TC, Yarza, TKL, Steritz, MJ, Pedro, M, Labra, PJ, Daly, KA, Tantoco, MLC, Szeremeta, W, Reyes-Quintos, MRT, Ahankoob, N, Llanes, EGDV, Pine, HS, Yousaf, S, Ir, D, Einarsdottir, E, de la Cruz, RAR, Lee, NR, Nonato, RMA, Robertson, CE, Ong, KMC, Magno, JPM, Chiong, ANE, Espiritu-Chiong, MC, San Agustin, ML, Cruz, TLG, Abes, GT, Bamshad, MJ, Cutiongco-de la Paz, EM, Kere, J, Nickerson, DA, Mohlke, KL, Riazuddin, S, Chan, A, Mattila, PS, Leal, SM, Ryan, AF, Ahmed, ZM, Chonmaitree, T, Sale, MM, Chiong, CM, Santos-Cortez, RLP

المصدر: Journal of medical genetics. 58(7):442-452

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:147228556

المؤلفون: Santos-Cortez, RLP, Chiong, CM, Frank, DN, Ryan, AF, Giese, APJ, Roberts, TB, Daly, KA, Steritz, MJ, Szeremeta, W, Pedro, M, Pine, H, Yarza, TKL, Scholes, MA, Llanes, EGDV, Yousaf, S, Friedman, N, Tantoco, MLC, Wine, TM, Labra, PJ, Benoit, J, Ruiz, AG, de la Cruz, RAR, Greenlee, C, Yousaf, A, Cardwell, J, Nonato, RMA, Ray, D, Ong, KMC, So, E, Robertson, CE, Dinwiddie, J, Lagrana-Villagracia, SM, Gubbels, SP, Shaikh, RS, Cass, SP, Einarsdottir, E, Lee, NR, Schwartz, DA, Gloria-Cruz, TLI, Bamshad, MJ, Yang, IV, Kere, J, Abes, GT, Prager, JD, Riazuddin, S, Chan, AL, Yoon, PJ, Nickerson, DA, Cutiongco-de la Paz, EM, Streubel, SO, Reyes-Quintos, MRT, Jenkins, HA, Mattila, P, Chan, KH, Mohlke, KL, Leal, SM, Hafren, L, Chonmaitree, T, Sale, MM, Ahmed, ZM

المصدر: American journal of human genetics. 103(5):679-690

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:139492432

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المؤلفون: Santos-Cortez RLP; Department of Otolaryngology-Head and Neck Surgery, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.; Center for Children's Surgery, Children's Hospital Colorado, Aurora, Colorado, USA.; Philippine National Ear Institute, National Institutes of Health, University of the Philippines Manila, Manila, Philippines., Ong KMC; Philippine National Ear Institute, National Institutes of Health, University of the Philippines Manila, Manila, Philippines.; Newborn Hearing Screening Reference Center, National Institutes of Health, University of the Philippines Manila, Manila, Philippines.; Department of Otorhinolaryngology, University of the Philippines College of Medicine-Philippine General Hospital, Manila, Philippines., Carlos-Hiceta A; Department of Otorhinolaryngology, University of the Philippines College of Medicine-Philippine General Hospital, Manila, Philippines., Tantoco MLC; Philippine National Ear Institute, National Institutes of Health, University of the Philippines Manila, Manila, Philippines.; Newborn Hearing Screening Reference Center, National Institutes of Health, University of the Philippines Manila, Manila, Philippines.; Department of Otorhinolaryngology, University of the Philippines College of Medicine-Philippine General Hospital, Manila, Philippines., Yarza TKL; Philippine National Ear Institute, National Institutes of Health, University of the Philippines Manila, Manila, Philippines.; Newborn Hearing Screening Reference Center, National Institutes of Health, University of the Philippines Manila, Manila, Philippines., San Agustin ML; Philippine National Ear Institute, National Institutes of Health, University of the Philippines Manila, Manila, Philippines.; Newborn Hearing Screening Reference Center, National Institutes of Health, University of the Philippines Manila, Manila, Philippines.; Department of Otorhinolaryngology, University of the Philippines College of Medicine-Philippine General Hospital, Manila, Philippines., Pedro M; Philippine National Ear Institute, National Institutes of Health, University of the Philippines Manila, Manila, Philippines., Cruz TLG; Philippine National Ear Institute, National Institutes of Health, University of the Philippines Manila, Manila, Philippines.; Department of Otorhinolaryngology, University of the Philippines College of Medicine-Philippine General Hospital, Manila, Philippines., Cutiongco-de la Paz EM; Institute of Human Genetics, National Institutes of Health, University of the Philippines Manila, Manila, Philippines.; Philippine Genome Center, University of the Philippines Diliman, Quezon City, Philippines., Abes GT; Philippine National Ear Institute, National Institutes of Health, University of the Philippines Manila, Manila, Philippines.; Department of Otorhinolaryngology, University of the Philippines College of Medicine-Philippine General Hospital, Manila, Philippines., Llanes EGDV; Philippine National Ear Institute, National Institutes of Health, University of the Philippines Manila, Manila, Philippines.; Department of Otorhinolaryngology, University of the Philippines College of Medicine-Philippine General Hospital, Manila, Philippines., Chan AL; Philippine National Ear Institute, National Institutes of Health, University of the Philippines Manila, Manila, Philippines.; Department of Otorhinolaryngology, University of the Philippines College of Medicine-Philippine General Hospital, Manila, Philippines., Chiong CM; Philippine National Ear Institute, National Institutes of Health, University of the Philippines Manila, Manila, Philippines.; Newborn Hearing Screening Reference Center, National Institutes of Health, University of the Philippines Manila, Manila, Philippines.; Department of Otorhinolaryngology, University of the Philippines College of Medicine-Philippine General Hospital, Manila, Philippines., Reyes-Quintos MRT; Philippine National Ear Institute, National Institutes of Health, University of the Philippines Manila, Manila, Philippines.; Newborn Hearing Screening Reference Center, National Institutes of Health, University of the Philippines Manila, Manila, Philippines.; Department of Otorhinolaryngology, University of the Philippines College of Medicine-Philippine General Hospital, Manila, Philippines.

المصدر: Genetic testing and molecular biomarkers [Genet Test Mol Biomarkers] 2023 Jan; Vol. 27 (1), pp. 12-17.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Mary Ann Liebert, Inc Country of Publication: United States NLM ID: 101494210 Publication Model: Print Cited Medium: Internet ISSN: 1945-0257 (Electronic) Linking ISSN: 19450257 NLM ISO Abbreviation: Genet Test Mol Biomarkers Subsets: MEDLINE

مواضيع طبية MeSH: Deafness* , Hearing Loss*/genetics , Hearing Loss*/diagnosis , Otitis Media*/genetics, Humans ; alpha-Macroglobulins/genetics ; Genotype ; Otoscopy ; Galactoside 2-alpha-L-fucosyltransferase

المؤلفون: Larson ED; Department of Otolaryngology, University of Colorado School of Medicine, Aurora, Colorado., Magno JPM; Department of Otorhinolaryngology, University of the Philippines Manila College of Medicine - Philippine General Hospital, Manila, Philippines., Steritz MJ; Department of Otolaryngology, University of Colorado School of Medicine, Aurora, Colorado., Llanes EGDV; Department of Otorhinolaryngology, University of the Philippines Manila College of Medicine - Philippine General Hospital, Manila, Philippines.; Philippine National Ear Institute, University of the Philippines Manila - National Institutes of Health, Manila, Philippines., Cardwell J; Department of Medicine, University of Colorado School of Medicine, Aurora, Colorado., Pedro M; Philippine National Ear Institute, University of the Philippines Manila - National Institutes of Health, Manila, Philippines., Roberts TB; Department of Otolaryngology, University of Colorado School of Medicine, Aurora, Colorado., Einarsdottir E; Folkhälsan Institute of Genetics and Molecular Neurology Research Program, University of Helsinki, Helsinki, Finland.; Department of Biosciences and Nutrition, Karolinska Institutet, Huddinge, Sweden., Rosanes RAQ; Department of Community Dentistry, College of Dentistry, University of the Philippines Manila, Manila, Philippines., Greenlee C; Department of Otolaryngology, University of Colorado School of Medicine, Aurora, Colorado.; Department of Pediatric Otolaryngology, Children's Hospital Colorado, Aurora, Colorado., Santos RAP; Nordhoff Craniofacial Center, Manila, Philippines., Yousaf A; Institute of Molecular Biology and Biotechnology, Bahauddin Zakariya University, Multan, Punjab, Pakistan., Streubel SO; Department of Otolaryngology, University of Colorado School of Medicine, Aurora, Colorado.; Department of Pediatric Otolaryngology, Children's Hospital Colorado, Aurora, Colorado., Santos ATR; Nordhoff Craniofacial Center, Manila, Philippines., Ruiz AG; Department of Otolaryngology, University of Colorado School of Medicine, Aurora, Colorado.; Department of Pediatric Otolaryngology, Children's Hospital Colorado, Aurora, Colorado., Lagrana-Villagracia SM; Philippine National Ear Institute, University of the Philippines Manila - National Institutes of Health, Manila, Philippines., Ray D; Department of Otolaryngology, University of Colorado School of Medicine, Aurora, Colorado., Yarza TKL; Philippine National Ear Institute, University of the Philippines Manila - National Institutes of Health, Manila, Philippines.; Newborn Hearing Screening Reference Center, University of the Philippines Manila - National Institutes of Health (NIH), Manila, Philippines., Scholes MA; Department of Otolaryngology, University of Colorado School of Medicine, Aurora, Colorado.; Department of Pediatric Otolaryngology, Children's Hospital Colorado, Aurora, Colorado., Anderson CB; Department of Otolaryngology, University of Colorado School of Medicine, Aurora, Colorado., Acharya A; Center for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., Gubbels SP; Department of Otolaryngology, University of Colorado School of Medicine, Aurora, Colorado., Bamshad MJ; Department of Genome Sciences, University of Washington, Seattle, Washington., Cass SP; Department of Otolaryngology, University of Colorado School of Medicine, Aurora, Colorado., Lee NR; USC-Office of Population Studies Foundation, Inc. and Department of Anthropology, Sociology and History, University of San Carlos, Cebu, Philippines., Shaikh RS; Institute of Molecular Biology and Biotechnology, Bahauddin Zakariya University, Multan, Punjab, Pakistan., Nickerson DA; Department of Genome Sciences, University of Washington, Seattle, Washington., Mohlke KL; Department of Genetics, University of North Carolina, Chapel Hill, North Carolina., Prager JD; Department of Otolaryngology, University of Colorado School of Medicine, Aurora, Colorado.; Department of Pediatric Otolaryngology, Children's Hospital Colorado, Aurora, Colorado., Cruz TLG; Department of Otorhinolaryngology, University of the Philippines Manila College of Medicine - Philippine General Hospital, Manila, Philippines.; Philippine National Ear Institute, University of the Philippines Manila - National Institutes of Health, Manila, Philippines., Yoon PJ; Department of Otolaryngology, University of Colorado School of Medicine, Aurora, Colorado.; Department of Pediatric Otolaryngology, Children's Hospital Colorado, Aurora, Colorado., Abes GT; Department of Otorhinolaryngology, University of the Philippines Manila College of Medicine - Philippine General Hospital, Manila, Philippines.; Philippine National Ear Institute, University of the Philippines Manila - National Institutes of Health, Manila, Philippines., Schwartz DA; Department of Medicine, University of Colorado School of Medicine, Aurora, Colorado., Chan AL; Department of Otorhinolaryngology, University of the Philippines Manila College of Medicine - Philippine General Hospital, Manila, Philippines.; Philippine National Ear Institute, University of the Philippines Manila - National Institutes of Health, Manila, Philippines., Wine TM; Department of Otolaryngology, University of Colorado School of Medicine, Aurora, Colorado.; Department of Pediatric Otolaryngology, Children's Hospital Colorado, Aurora, Colorado., Cutiongco-de la Paz EM; Philippine Genome Center, University of the Philippines, Quezon City, Philippines.; University of the Philippines Manila - National Institutes of Health, Manila, Philippines., Friedman N; Department of Otolaryngology, University of Colorado School of Medicine, Aurora, Colorado.; Department of Pediatric Otolaryngology, Children's Hospital Colorado, Aurora, Colorado., Kechris K; Department of Biostatistics and Bioinformatics, Colorado School of Public Health, Aurora, Colorado., Kere J; Folkhälsan Institute of Genetics and Molecular Neurology Research Program, University of Helsinki, Helsinki, Finland.; Department of Biosciences and Nutrition, Karolinska Institutet, Huddinge, Sweden., Leal SM; Center for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., Yang IV; Department of Medicine, University of Colorado School of Medicine, Aurora, Colorado., Patel JA; Division of Infectious Diseases, Department of Pediatrics, University of Texas Medical Branch, Galveston, Texas., Tantoco MLC; Department of Otorhinolaryngology, University of the Philippines Manila College of Medicine - Philippine General Hospital, Manila, Philippines.; Philippine National Ear Institute, University of the Philippines Manila - National Institutes of Health, Manila, Philippines., Riazuddin S; Department of Otorhinolaryngology, Head and Neck Surgery, University of Maryland School of Medicine, Baltimore, Maryland., Chan KH; Department of Otolaryngology, University of Colorado School of Medicine, Aurora, Colorado.; Department of Pediatric Otolaryngology, Children's Hospital Colorado, Aurora, Colorado., Mattila PS; Department of Otorhinolaryngology, Head & Neck Surgery, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Reyes-Quintos MRT; Department of Otorhinolaryngology, University of the Philippines Manila College of Medicine - Philippine General Hospital, Manila, Philippines.; Philippine National Ear Institute, University of the Philippines Manila - National Institutes of Health, Manila, Philippines.; Newborn Hearing Screening Reference Center, University of the Philippines Manila - National Institutes of Health (NIH), Manila, Philippines.; University of the Philippines Manila - National Institutes of Health, Manila, Philippines., Ahmed ZM; Department of Otorhinolaryngology, Head and Neck Surgery, University of Maryland School of Medicine, Baltimore, Maryland., Jenkins HA; Department of Otolaryngology, University of Colorado School of Medicine, Aurora, Colorado., Chonmaitree T; Division of Infectious Diseases, Department of Pediatrics, University of Texas Medical Branch, Galveston, Texas., Hafrén L; Department of Otorhinolaryngology, Head & Neck Surgery, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Chiong CM; Department of Otorhinolaryngology, University of the Philippines Manila College of Medicine - Philippine General Hospital, Manila, Philippines.; Philippine National Ear Institute, University of the Philippines Manila - National Institutes of Health, Manila, Philippines.; Newborn Hearing Screening Reference Center, University of the Philippines Manila - National Institutes of Health (NIH), Manila, Philippines., Santos-Cortez RLP; Department of Otolaryngology, University of Colorado School of Medicine, Aurora, Colorado.; Philippine National Ear Institute, University of the Philippines Manila - National Institutes of Health, Manila, Philippines.; Center for Children's Surgery, Children's Hospital Colorado, Aurora, Colorado.

مؤلفون مشاركون: University of Washington Center for Mendelian Genomics

المصدر: Human mutation [Hum Mutat] 2019 Aug; Vol. 40 (8), pp. 1156-1171. Date of Electronic Publication: 2019 May 21.

نوع المنشور: Journal Article; Multicenter Study; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

مواضيع طبية MeSH: Down-Regulation* , Mutation*, Gene Expression Profiling/*methods , Otitis Media/*genetics , Sequence Analysis, DNA/*methods , alpha-Macroglobulins/*genetics, Adolescent ; Adult ; Child ; Child, Preschool ; Female ; Finland ; Gene Expression Regulation ; Genetic Predisposition to Disease ; Humans ; Infant ; Male ; Middle Aged ; Pakistan ; Pedigree ; Philippines ; Sequence Analysis, RNA ; Signal Transduction ; United States ; Young Adult