المؤلفون: Brownstein, CA, Beggs, AH, Homer, N, Merriman, B, Yu, TW, Flannery, KC, DeChene, ET, Towne, MC, Savage, SK, Price, EN, Holm, IA, Luquette, LJ, Lyon, E, Majzoub, J, Neupert, P, McCallie, D, Szolovits, P, Willard, HF, Mendelsohn, NJ, Temme, R, Finkel, RS, Yum, SW, Medne, L, Sunyaev, SR, Adzhubey, I, Cassa, CA, de Bakker, PIW, Duzkale, H, Dworzynski, P, Fairbrother, W, Francioli, L, Funke, BH, Giovanni, MA, Handsaker, RE, Lage, K, Lebo, MS, Lek, M, Leshchiner, I, MacArthur, DG, McLaughlin, HM, Murray, MF, Pers, TH, Polak, PP, Raychaudhuri, S, Rehm, HL, Soemedi, R, Stitziel, NO, Vestecka, S, Supper, J, Gugenmus, C, Klocke, B, Hahn, A, Schubach, M, Menzel, M, Biskup, S, Freisinger, P, Deng, M, Braun, M, Perner, S, Smith, RJH, Andorf, JL, Huang, J, Ryckman, K, Sheffield, VC, Stone, EM, Bair, T, Black-Ziegelbein, EA, Braun, TA, Darbro, B, DeLuca, AP, Kolbe, DL, Scheetz, TE, Shearer, AE, Sompallae, R, Wang, K, Bassuk, AG, Edens, E, Mathews, K, Moore, SA, Shchelochkov, OA, Trapane, P, Bossler, A, Campbell, CA, Heusel, JW, Kwitek, A, Maga, T, Panzer, K, Wassink, T, Van Daele, D, Azaiez, H, Booth, K, Meyer, N, Segal, MM, Williams, MS, Tromp, G, White, P, Corsmeier, D, Fitzgerald-Butt, S, Herman, G, Lamb-Thrush, D, McBride, KL, Newsom, D, Pierson, CR, Rakowsky, AT, Maver, A, Lovrecic, L, Palandacic, A, Peterlin, B, Torkamani, A, Wedell, A, Huss, M, Alexeyenko, A, Lindvall, JM, Magnusson, M, Nilsson, D, Stranneheim, H, Taylan, F, Gilissen, C, Hoischen, A, van Bon, B, Yntema, H, Nelen, M, Zhang, WD, Sager, J, Zhang, L, Blair, K, Kural, D, Cariaso, M, Lennon, GG, Javed, A, Agrawal, S, Ng, PC, Sandhu, KS, Krishna, S, Veeramachaneni, V, Isakov, O, Halperin, E, Friedman, E, Shomron, N, Glusman, G, Roach, JC, Caballero, J, Cox, HC, Mauldin, D, Ament, SA, Rowen, L, Richards, DR, San Lucas, FA, Gonzalez-Garay, ML, Caskey, CT, Bai, Y, Huang, Y, Fang, F, Zhang, Y, Wang, ZY, Barrera, J, Garcia-Lobo, JM, Gonzalez-Lamuno, D, Llorca, J, Rodriguez, MC, Varela, I, Reese, MG, De la Vega, FM, Kiruluta, E, Cargill, M, Hart, RK, Sorenson, JM, Lyon, GJ, Stevenson, DA, Bray, BE, Moore, BM, Eilbeck, K, Yandell, M, Zhao, HY, Hou, L, Chen, XW, Yan, XT, Chen, MJ, Li, C, Yang, C, Gunel, M, Li, PN, Kong, Y, Alexander, AC, Albertyn, ZI, Boycott, KM, Bulman, DE, Gordon, PMK, Innes, AM, Knoppers, BM, Majewski, J, Marshall, CR, Parboosingh, JS, Sawyer, SL, Samuels, ME, Schwartzentruber, J, Kohane, IS, Margulies, DM

المصدر: Genome biology. 15(3):R53

مصطلحات موضوعية: Medicin och hälsovetenskap

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المؤلفون: Tollefson MR; Roy J. Carver Department of Biomedical Engineering, University of Iowa, Iowa City, IA, 52242, USA.; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, University of Iowa Hospitals and Clinics, Iowa City, IA, 52242, USA., Gogal RA; Roy J. Carver Department of Biomedical Engineering, University of Iowa, Iowa City, IA, 52242, USA., Weaver AM; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, University of Iowa Hospitals and Clinics, Iowa City, IA, 52242, USA., Schaefer AM; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, University of Iowa Hospitals and Clinics, Iowa City, IA, 52242, USA., Marini RJ; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, University of Iowa Hospitals and Clinics, Iowa City, IA, 52242, USA., Azaiez H; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, University of Iowa Hospitals and Clinics, Iowa City, IA, 52242, USA., Kolbe DL; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, University of Iowa Hospitals and Clinics, Iowa City, IA, 52242, USA., Wang D; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, University of Iowa Hospitals and Clinics, Iowa City, IA, 52242, USA., Weaver AE; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, University of Iowa Hospitals and Clinics, Iowa City, IA, 52242, USA., Casavant TL; Roy J. Carver Department of Biomedical Engineering, University of Iowa, Iowa City, IA, 52242, USA., Braun TA; Roy J. Carver Department of Biomedical Engineering, University of Iowa, Iowa City, IA, 52242, USA., Smith RJH; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, University of Iowa Hospitals and Clinics, Iowa City, IA, 52242, USA. richard-smith@uiowa.edu., Schnieders MJ; Roy J. Carver Department of Biomedical Engineering, University of Iowa, Iowa City, IA, 52242, USA. michael-schnieders@uiowa.edu.; Department of Biochemistry and Molecular Biology, University of Iowa, Iowa City, IA, 52242, USA. michael-schnieders@uiowa.edu.

المصدر: Human genetics [Hum Genet] 2023 Jun; Vol. 142 (6), pp. 819-834. Date of Electronic Publication: 2023 Apr 22.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Hearing Loss*/genetics , Deafness*/genetics, Humans ; Proteome/genetics ; Mutation, Missense

المؤلفون: Klimara MJ; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology-Head and Neck Surgery, Roy J. and Lucille A. Carver College of Medicine University of Iowa, Iowa City, IA., Nishimura C; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology-Head and Neck Surgery, Roy J. and Lucille A. Carver College of Medicine University of Iowa, Iowa City, IA., Wang D; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology-Head and Neck Surgery, Roy J. and Lucille A. Carver College of Medicine University of Iowa, Iowa City, IA., Kolbe DL; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology-Head and Neck Surgery, Roy J. and Lucille A. Carver College of Medicine University of Iowa, Iowa City, IA., Schaefer AM; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology-Head and Neck Surgery, Roy J. and Lucille A. Carver College of Medicine University of Iowa, Iowa City, IA., Walls WD; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology-Head and Neck Surgery, Roy J. and Lucille A. Carver College of Medicine University of Iowa, Iowa City, IA., Frees KL; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology-Head and Neck Surgery, Roy J. and Lucille A. Carver College of Medicine University of Iowa, Iowa City, IA., Smith RJH; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology-Head and Neck Surgery, Roy J. and Lucille A. Carver College of Medicine University of Iowa, Iowa City, IA. Electronic address: richard-smith@uiowa.edu., Azaiez H; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology-Head and Neck Surgery, Roy J. and Lucille A. Carver College of Medicine University of Iowa, Iowa City, IA. Electronic address: Hela-azaiez@uiowa.edu.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Dec; Vol. 24 (12), pp. 2555-2567. Date of Electronic Publication: 2022 Oct 04.

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

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

مواضيع طبية MeSH: Hearing Loss*/genetics , Deafness*, Humans ; High-Throughput Nucleotide Sequencing ; Mutation ; Exons ; Intercellular Signaling Peptides and Proteins

المؤلفون: Hirsch Y; Dor Yeshorim, Committee for Prevention of Jewish Genetic Diseases, Brooklyn, NY, 11211, USA., Tangshewinsirikul C; Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, 10400, Thailand.; Department of Obstetrics and Gynecology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, 02115, USA., Booth KT; Molecular Otolaryngology and Renal Research Laboratories, The University of Iowa, Iowa City, IA, 52242, USA.; Department of Neurobiology, Harvard Medical School, Boston, MA, 02215, USA., Azaiez H; Molecular Otolaryngology and Renal Research Laboratories, The University of Iowa, Iowa City, IA, 52242, USA., Yefet D; Dor Yeshorim, Committee for Prevention of Jewish Genetic Diseases, Jerusalem, 91506, Israel., Quint A; Dor Yeshorim, Committee for Prevention of Jewish Genetic Diseases, Jerusalem, 91506, Israel., Weiden T; Dor Yeshorim, Committee for Prevention of Jewish Genetic Diseases, Jerusalem, 91506, Israel., Brownstein Z; Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine and Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, 6997801, Israel., Macarov M; Department of Genetics and Metabolic Diseases, Hadassah Medical Center, Jerusalem, 91120, Israel., Davidov B; Department of Medical Genetics, Rabin Medical Center, Petah Tikva, 49100, Israel., Pappas J; Department of Pediatrics, New York University School of Medicine, New York, NY, 10016, USA., Rabin R; Department of Pediatrics, New York University School of Medicine, New York, NY, 10016, USA., Kenna MA; Department of Otolaryngology and Communication Enhancement, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA.; Harvard Medical School Center for Hereditary Deafness, Boston, MA, 02115, USA., Oza AM; Department of Otolaryngology and Communication Enhancement, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA.; Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, MA, 02139, USA., Lafferty K; Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, MA, 02139, USA.; Maine Medical Center, Scarborough, ME, 04074, USA., Amr SS; Harvard Medical School Center for Hereditary Deafness, Boston, MA, 02115, USA.; Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, MA, 02139, USA.; Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, 02115, USA., Rehm HL; Harvard Medical School Center for Hereditary Deafness, Boston, MA, 02115, USA.; Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, MA, 02139, USA.; Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, 02115, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, 02114, USA.; The Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA., Kolbe DL; Molecular Otolaryngology and Renal Research Laboratories, The University of Iowa, Iowa City, IA, 52242, USA., Frees K; Molecular Otolaryngology and Renal Research Laboratories, The University of Iowa, Iowa City, IA, 52242, USA., Nishimura C; Molecular Otolaryngology and Renal Research Laboratories, The University of Iowa, Iowa City, IA, 52242, USA., Luo M; The Children's Hospital of Philadelphia, The University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, 19104, USA., Farra C; Medical Genetics Unit, American University of Beirut Medical Center, AUBMC, 1107 2020, Beirut, Lebanon., Morton CC; Department of Obstetrics and Gynecology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, 02115, USA.; Harvard Medical School Center for Hereditary Deafness, Boston, MA, 02115, USA.; Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, 02115, USA.; The Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA.; Manchester Centre for Audiology and Deafness, School of Health Sciences, The University of Manchester, Manchester, M13 9PL, UK., Scher SY; Dor Yeshorim, Committee for Prevention of Jewish Genetic Diseases, Brooklyn, NY, 11211, USA., Ekstein J; Dor Yeshorim, Committee for Prevention of Jewish Genetic Diseases, Brooklyn, NY, 11211, USA., Avraham KB; Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine and Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, 6997801, Israel. karena@tauex.tau.ac.il., Smith RJH; Molecular Otolaryngology and Renal Research Laboratories, The University of Iowa, Iowa City, IA, 52242, USA. richard-smith@uiowa.edu., Shen J; Harvard Medical School Center for Hereditary Deafness, Boston, MA, 02115, USA. jshen5@bwh.harvard.edu.; Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, MA, 02139, USA. jshen5@bwh.harvard.edu.; Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, 02115, USA. jshen5@bwh.harvard.edu.

المصدر: European journal of human genetics : EJHG [Eur J Hum Genet] 2021 Jun; Vol. 29 (6), pp. 988-997. Date of Electronic Publication: 2021 Jan 04.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Gene Frequency*, Hearing Loss/*genetics , Myosins/*genetics, Adolescent ; Adult ; Child ; Child, Preschool ; Female ; Genes, Recessive ; Hearing Loss/ethnology ; Hearing Loss/pathology ; Humans ; Infant ; Jews/genetics ; Male ; Mutation ; Pedigree ; RNA Splicing

المؤلفون: Walls WD; Molecular Otolaryngology and Renal Research Labs, Department of Otolaryngology-Head and Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, IA, 52242, USA., Moteki H; Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Nagano, 390-8621, Japan., Thomas TR; Molecular Otolaryngology and Renal Research Labs, Department of Otolaryngology-Head and Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, IA, 52242, USA., Nishio SY; Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Nagano, 390-8621, Japan., Yoshimura H; Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Nagano, 390-8621, Japan., Iwasa Y; Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Nagano, 390-8621, Japan., Frees KL; Molecular Otolaryngology and Renal Research Labs, Department of Otolaryngology-Head and Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, IA, 52242, USA., Nishimura CJ; Molecular Otolaryngology and Renal Research Labs, Department of Otolaryngology-Head and Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, IA, 52242, USA., Azaiez H; Molecular Otolaryngology and Renal Research Labs, Department of Otolaryngology-Head and Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, IA, 52242, USA., Booth KT; Molecular Otolaryngology and Renal Research Labs, Department of Otolaryngology-Head and Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, IA, 52242, USA.; Department of Neurobiology, Harvard Medical School, Boston, MA, 02215, USA., Marini RJ; Molecular Otolaryngology and Renal Research Labs, Department of Otolaryngology-Head and Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, IA, 52242, USA., Kolbe DL; Molecular Otolaryngology and Renal Research Labs, Department of Otolaryngology-Head and Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, IA, 52242, USA., Weaver AM; Molecular Otolaryngology and Renal Research Labs, Department of Otolaryngology-Head and Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, IA, 52242, USA., Schaefer AM; Molecular Otolaryngology and Renal Research Labs, Department of Otolaryngology-Head and Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, IA, 52242, USA., Wang K; Department of Biostatistics, University of Iowa, Iowa City, IA, 52242, USA., Braun TA; Department of Biomedical Engineering, University of Iowa, Iowa City, IA, 52242, USA., Usami SI; Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Nagano, 390-8621, Japan., Barr-Gillespie PG; Vollum Institute, Oregon Health & Science University, Portland, OR, 97239, USA., Richardson GP; Sussex Neuroscience, School of Life Sciences, University of Sussex, Brighton, UK., Smith RJ; Molecular Otolaryngology and Renal Research Labs, Department of Otolaryngology-Head and Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, IA, 52242, USA. richard-smith@uiowa.edu.; Interdepartmental Ph.D. Program in Genetics, University of Iowa, Iowa City, IA, 52242, USA. richard-smith@uiowa.edu.; Department of Molecular Physiology and Biophysics, University of Iowa Carver College of Medicine, Iowa City, IA, 52242, USA. richard-smith@uiowa.edu., Casavant TL; Department of Biomedical Engineering, University of Iowa, Iowa City, IA, 52242, USA.; Center for Bioinformatics and Computational Biology, University of Iowa, Iowa City, IA, 52242, USA.; Department of Electrical and Computer Engineering, University of Iowa, Iowa City, IA, 52242, USA.

المصدر: Human genetics [Hum Genet] 2020 Oct; Vol. 139 (10), pp. 1315-1323. Date of Electronic Publication: 2020 May 07.

نوع المنشور: Comparative Study; Journal Article

بيانات الدورية: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Genotype* , Mutation*, Extracellular Matrix Proteins/*genetics , Hearing Loss, Sensorineural/*genetics , KCNQ Potassium Channels/*genetics , Membrane Proteins/*genetics, Adolescent ; Adult ; Aged ; Aged, 80 and over ; Asian People ; Audiometry ; Case-Control Studies ; Child ; Child, Preschool ; Female ; GPI-Linked Proteins/genetics ; Gene Expression ; Genetic Association Studies ; Hearing Loss, Sensorineural/diagnosis ; Hearing Loss, Sensorineural/ethnology ; Hearing Loss, Sensorineural/physiopathology ; Humans ; Infant ; Infant, Newborn ; Japan ; Male ; Middle Aged ; Pedigree ; Phenotype ; United States ; White People

المؤلفون: Stiff HA; Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, Iowa, USA., Sloan-Heggen CM; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA.; Department of Molecular Physiology & Biophysics, University of Iowa College of Medicine, Iowa City, Iowa, USA., Ko A; Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, Iowa, USA.; Department of Ophthalmology and Visual Sciences, University of British Columbia, Vancouver, British Columbia, Canada., Pfeifer WL; Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, Iowa, USA., Kolbe DL; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA., Nishimura CJ; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA., Frees KL; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA., Booth KT; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA., Wang D; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA., Weaver AE; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA., Azaiez H; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA., Kamholz J; Department of Neurology, University of Iowa, Iowa City, Iowa, USA., Smith RJH; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA.; Department of Molecular Physiology & Biophysics, University of Iowa College of Medicine, Iowa City, Iowa, USA., Drack AV; Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, Iowa, USA.; The University of Iowa Institute for Vision Research, Iowa City, Iowa, USA.

المصدر: Ophthalmic genetics [Ophthalmic Genet] 2020 Apr; Vol. 41 (2), pp. 151-158. Date of Electronic Publication: 2020 Apr 13.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1744-5094 (Electronic) Linking ISSN: 13816810 NLM ISO Abbreviation: Ophthalmic Genet Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Markers* , Mutation*, Blindness/*diagnosis , Deafness/*diagnosis , Usher Syndromes/*diagnosis, Adolescent ; Adult ; Blindness/genetics ; Child ; Child, Preschool ; Deafness/genetics ; Diagnosis, Differential ; Female ; Follow-Up Studies ; Genetic Predisposition to Disease ; Genotype ; Humans ; Infant ; Male ; Middle Aged ; Prognosis ; Retrospective Studies ; Usher Syndromes/genetics

المؤلفون: Ranum PT; Interdisciplinary Graduate Program in Molecular & Cellular Biology, University of Iowa Graduate College, University of Iowa, Iowa City, IA 52242, USA; Molecular Otolaryngology and Renal Research Laboratories, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA., Goodwin AT; Molecular Otolaryngology and Renal Research Laboratories, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA., Yoshimura H; Molecular Otolaryngology and Renal Research Laboratories, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA; Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan., Kolbe DL; Molecular Otolaryngology and Renal Research Laboratories, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA., Walls WD; Molecular Otolaryngology and Renal Research Laboratories, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA., Koh JY; Molecular Otolaryngology and Renal Research Laboratories, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA., He DZZ; Department of Biomedical Sciences, Creighton University School of Medicine, Omaha, NE 68178, USA., Smith RJH; Interdisciplinary Graduate Program in Molecular & Cellular Biology, University of Iowa Graduate College, University of Iowa, Iowa City, IA 52242, USA; Molecular Otolaryngology and Renal Research Laboratories, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA; Department of Otolaryngology, Head and Neck Surgery, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA. Electronic address: richard-smith@uiowa.edu.

المصدر: Cell reports [Cell Rep] 2019 Mar 12; Vol. 26 (11), pp. 3160-3171.e3.

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

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 101573691 Publication Model: Print Cited Medium: Internet ISSN: 2211-1247 (Electronic) NLM ISO Abbreviation: Cell Rep Subsets: MEDLINE

مواضيع طبية MeSH: Transcriptome*, Deafness/*genetics , Organ of Corti/*metabolism, Animals ; Female ; Gene Expression Profiling ; Male ; Mice ; Organ of Corti/growth & development ; Single-Cell Analysis

المؤلفون: Shearer AE; Department of Otolaryngology-Head and Neck Surgery, Carver College of Medicine, University of Iowa, Iowa City, Iowa, USA.; Molecular Otolaryngology and Renal Research Laboratories, Carver College of Medicine, University of Iowa, Iowa City, Iowa, USA., Frees K; Molecular Otolaryngology and Renal Research Laboratories, Carver College of Medicine, University of Iowa, Iowa City, Iowa, USA., Kolbe DL; Molecular Otolaryngology and Renal Research Laboratories, Carver College of Medicine, University of Iowa, Iowa City, Iowa, USA., Smith RJH; Department of Otolaryngology-Head and Neck Surgery, Carver College of Medicine, University of Iowa, Iowa City, Iowa, USA.; Molecular Otolaryngology and Renal Research Laboratories, Carver College of Medicine, University of Iowa, Iowa City, Iowa, USA.; Interdepartmental PhD Program in Genetics, University of Iowa, Iowa City, Iowa, USA.

المصدر: Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery [Otolaryngol Head Neck Surg] 2018 Dec; Vol. 159 (6), pp. 1058-1060. Date of Electronic Publication: 2018 Aug 28.

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

بيانات الدورية: Publisher: Wiley Country of Publication: England NLM ID: 8508176 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-6817 (Electronic) Linking ISSN: 01945998 NLM ISO Abbreviation: Otolaryngol Head Neck Surg Subsets: MEDLINE

مواضيع طبية MeSH: Deafness/*blood , Deafness/*diagnosis , Genetic Testing/*methods, Biological Specimen Banks ; Deafness/genetics ; Dried Blood Spot Testing ; Hematologic Tests ; Humans

المؤلفون: von Spiczak S; Author affiliations are provided at the end of the article., Helbig KL; Author affiliations are provided at the end of the article., Shinde DN; Author affiliations are provided at the end of the article., Huether R; Author affiliations are provided at the end of the article., Pendziwiat M; Author affiliations are provided at the end of the article., Lourenço C; Author affiliations are provided at the end of the article., Nunes ME; Author affiliations are provided at the end of the article., Sarco DP; Author affiliations are provided at the end of the article., Kaplan RA; Author affiliations are provided at the end of the article., Dlugos DJ; Author affiliations are provided at the end of the article., Kirsch H; Author affiliations are provided at the end of the article., Slavotinek A; Author affiliations are provided at the end of the article., Cilio MR; Author affiliations are provided at the end of the article., Cervenka MC; Author affiliations are provided at the end of the article., Cohen JS; Author affiliations are provided at the end of the article., McClellan R; Author affiliations are provided at the end of the article., Fatemi A; Author affiliations are provided at the end of the article., Yuen A; Author affiliations are provided at the end of the article., Sagawa Y; Author affiliations are provided at the end of the article., Littlejohn R; Author affiliations are provided at the end of the article., McLean SD; Author affiliations are provided at the end of the article., Hernandez-Hernandez L; Author affiliations are provided at the end of the article., Maher B; Author affiliations are provided at the end of the article., Møller RS; Author affiliations are provided at the end of the article., Palmer E; Author affiliations are provided at the end of the article., Lawson JA; Author affiliations are provided at the end of the article., Campbell CA; Author affiliations are provided at the end of the article., Joshi CN; Author affiliations are provided at the end of the article., Kolbe DL; Author affiliations are provided at the end of the article., Hollingsworth G; Author affiliations are provided at the end of the article., Neubauer BA; Author affiliations are provided at the end of the article., Muhle H; Author affiliations are provided at the end of the article., Stephani U; Author affiliations are provided at the end of the article., Scheffer IE; Author affiliations are provided at the end of the article., Pena SDJ; Author affiliations are provided at the end of the article., Sisodiya SM; Author affiliations are provided at the end of the article., Helbig I; Author affiliations are provided at the end of the article. helbigi@email.chop.edu.

مؤلفون مشاركون: Epi4K Consortium, EuroEPINOMICS-RES NLES Working Group

المصدر: Neurology [Neurology] 2017 Jul 25; Vol. 89 (4), pp. 385-394. Date of Electronic Publication: 2017 Jun 30.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0401060 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1526-632X (Electronic) Linking ISSN: 00283878 NLM ISO Abbreviation: Neurology Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Brain Diseases/*genetics , Brain Diseases/*metabolism , GTP Phosphohydrolases/*genetics , GTP Phosphohydrolases/*metabolism , Microtubule-Associated Proteins/*genetics , Microtubule-Associated Proteins/*metabolism , Mitochondrial Proteins/*genetics , Mitochondrial Proteins/*metabolism, Adolescent ; Child ; Child, Preschool ; Cohort Studies ; DNA Mutational Analysis ; Dynamins ; Female ; Homeodomain Proteins ; Humans ; Infant ; Male ; Models, Molecular ; Phenotype ; Short Stature Homeobox Protein ; Siblings ; Synaptic Vesicles/metabolism ; Young Adult