المساهمون: Mee Hyun Song, Tae-Jun Kwon, Hui Ram Kim, Ju Hyun Jeon, Jeong-In Baek, Won-Sang Lee, Un-Kyung Kim, Jae Young Choi, Lee, Won Sang, Choi, Jae Young

المصدر: T201303519.pdf

مصطلحات موضوعية: Adolescent, Adult, Alternative Splicing, Base Sequence, Branchio-Oto-Renal Syndrome/diagnostic imaging, Branchio-Oto-Renal Syndrome/genetics, Branchio-Oto-Renal Syndrome/physiopathology, Branchio-Oto-Renal Syndrome/therapy, Child, DNA Mutational Analysis, Disease Management, Ear, Middle/surgery, Female, Genetic Association Studies, Genetic Predisposition to Disease, HeLa Cells, Hearing Loss/diagnostic imaging, Hearing Loss/genetics, Hearing Loss/physiopathology, Hearing Loss/therapy, Homeodomain Proteins/genetics, Humans, Infant, Intracellular Signaling Peptides and Proteins/genetics, Intracellular Signaling Peptides and Proteins/metabolism, Molecular Sequence Data, Nuclear Proteins/genetics, Nuclear Proteins/metabolism, Point Mutation

العلاقة: PLOS ONE; J02540; OAK-2013-02020; https://ir.ymlib.yonsei.ac.kr/handle/22282913/88137Test; T201303519; PLOS ONE, Vol.8(6) : e67236, 2013

الإتاحة: https://doi.org/10.1371/journal.pone.0067236Test
https://ir.ymlib.yonsei.ac.kr/handle/22282913/88137Test

المؤلفون: Andrea Carrera-Gonzalez, Arianne Llamos Paneque, Joseph Foster, Duygu Duman, Stefany Montufar-Armendariz, Christopher M. Greenland, Selçuk Arslan, Kyle D. Klingbeil, Selma Ulusal, Filiz Basak Cengiz, Nursel Elcioglu, Mustafa Tekin, Reza Maroofian, Sebastian Escarfuller, Mahdiyeh Behnam, Guney Bademci, Ibis Menéndez, Shengru Guo, Rosario Paredes, Hakan Gurkan

المساهمون: Klingbeil, Kyle D., Greenland, Christopher M., ArsIan, Selcuk, Paneque, Arianne Llamos, Gurkan, Hakan, Ulusal, Selma Demir, Maroofian, Reza, Carrera-Gonzalez, Andrea, Montufar-Armendariz, Stefany, Paredes, Rosario, Elcioglu, Nursel, Menendez, Ibis, Behnam, Mahdiyeh, Foster, Joseph, II, Guo, Shengru, Escarfuller, Sebastian, Cengiz, Filiz Basak, Duman, Duygu, Bademci, Guney, Tekin, Mustafa

المصدر: International Journal of Pediatric Otorhinolaryngology. 98:59-63

مصطلحات موضوعية: Male, 0301 basic medicine, Turkey, Iran, DISEASE, Branchiootorenal syndrome, CHROMOSOME 8Q, Exome sequencing, Genetics, Branchio-oto-renal syndrome, Sanger sequencing, medicine.diagnostic_test, Intracellular Signaling Peptides and Proteins, Genetic disorder, Nuclear Proteins, LOCALIZATION, EAR, General Medicine, FAMILY, Pedigree, Child, Preschool, symbols, Branchial arch anomalies, Female, Ecuador, medicine.symptom, Branchio-Oto-Renal Syndrome, EYA1, Adult, BOR SYNDROME, Hearing loss, Biology, Dna variants, Article, REGION, 03 medical and health sciences, symbols.namesake, LINKAGE, medicine, Humans, Gene, Genetic testing, HEARING-LOSS, Whole exome sequencing, Sequence Analysis, DNA, medicine.disease, GENE, United States, 030104 developmental biology, Otorhinolaryngology, Mutation, Pediatrics, Perinatology and Child Health, Protein Tyrosine Phosphatases

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ec034e9ef556d2d017b740d99d26e26Test
https://doi.org/10.1016/j.ijporl.2017.04.037Test

المؤلفون: Andre L. P. Tavares, Karen M. Neilson, Aparna Baxi, Charles H. Sullivan, Patrick Krohn, Ankita Shah, Himani D. Majumdar, Sally A. Moody, Yeshwant Chillakuru

المصدر: Disease Models & Mechanisms, Vol 13, Iss 3 (2020)
Disease Models & Mechanisms

مصطلحات موضوعية: 0301 basic medicine, Transcription, Genetic, Mutant, lcsh:Medicine, Medicine (miscellaneous), Ectoderm, Xenopus Proteins, Xenopus laevis, 0302 clinical medicine, Immunology and Microbiology (miscellaneous), Gene expression, Gene Expression Regulation, Developmental, Neural crest, Ear, eya1, 3. Good health, Cell biology, medicine.anatomical_structure, embryonic structures, neural crest, Branchio-Oto-Renal Syndrome, Research Article, lcsh:RB1-214, preplacodal ectoderm, animal structures, Neuroscience (miscellaneous), Biology, General Biochemistry, Genetics and Molecular Biology, Otolithic Membrane, 03 medical and health sciences, otolith, lcsh:Pathology, medicine, Animals, Humans, Inner ear, Amino Acid Sequence, Gene, Homeodomain Proteins, Skull, lcsh:R, HEK293 Cells, 030104 developmental biology, Mutation, cranial placodes, Homeobox, otocyst, sense organs, Otic vesicle, Protein Tyrosine Phosphatases, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::340dae4ff66fdbcfb28b62613a892c9cTest
https://doi.org/10.1242/dmm.043489Test

المؤلفون: Regina Célia Mingroni-Netto, Leandro Ucela Alves, Erika L. Freitas, Vitor G. L. Dantas, Jeanne Oiticica, Peter L. Pearson, Karina Lezirovitz, Carla Rosenberg, Ana Maria Silveira Machado de Moraes, Valter Augusto Della-Rosa, Silvia B Ramos

المصدر: International Journal of Audiology. 54:593-598

مصطلحات موضوعية: Male, Linguistics and Language, medicine.medical_specialty, Hearing loss, Hearing Loss, Sensorineural, Audiology, Biology, Real-Time Polymerase Chain Reaction, Polymorphism, Single Nucleotide, Language and Linguistics, Consanguinity, Speech and Hearing, Exon, Gene mapping, Genetic linkage, Gene Duplication, Gene duplication, medicine, Humans, Gene, Hearing Loss, Mixed Conductive-Sensorineural, Intracellular Signaling Peptides and Proteins, Nuclear Proteins, Chromosome, Ear, Exons, Pedigree, Phenotype, Chromosomal region, Female, Lod Score, Protein Tyrosine Phosphatases, medicine.symptom, Branchio-Oto-Renal Syndrome, Brazil

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80f5c930e04b3e890ba582c729f6e2c4Test
https://doi.org/10.3109/14992027.2015.1030511Test

المؤلفون: Saber Masmoudi, J. Mnif, Leila Dhouib, Leila Ayadi, Mohamed Ali Mosrati, Ilhem Charfeddine, B. Hammami, Imen Ben Rebeh, Khaireddine Ben mahfoudh, Abdelmonem Ghorbel, Bochra Hakim

المصدر: European Journal of Medical Genetics. 54:e484-e488

مصطلحات موضوعية: Adult, Male, Models, Molecular, Protein Conformation, Molecular Sequence Data, Sequence alignment, Locus (genetics), Biology, Kidney, Conserved sequence, Genetics, medicine, Humans, Amino Acid Sequence, Hearing Loss, Gene, Peptide sequence, Conserved Sequence, Genetics (clinical), Homeodomain Proteins, Branchio-oto-renal syndrome, Base Sequence, Genetic heterogeneity, Ear, General Medicine, medicine.disease, Phenotype, Pedigree, Mutation, Female, sense organs, Sequence Alignment, Branchio-Oto-Renal Syndrome, Microsatellite Repeats

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b87460a58d8e31f991ac9ba34b6e315Test
https://doi.org/10.1016/j.ejmg.2011.06.001Test

المؤلفون: Daniel L. Weeks, Jose M. Manaligod, Youe Li

المصدر: Biology of the Cell

مصطلحات موضوعية: Embryo, Nonmammalian, Xenopus, Mutant, Xenopus Proteins, medicine.disease_cause, DACH, dachshund, otic development, Xenopus laevis, 0302 clinical medicine, GST, glutathione transferase, Basic Helix-Loop-Helix Transcription Factors, branchio-oto-renal (BOR), BOR, branchio-oto-renal, GFP, green fluorescent protein, Genetics, NeuroD, Branchio-oto-renal syndrome, 0303 health sciences, Mutation, Intracellular Signaling Peptides and Proteins, HRP, horseradish peroxidase, Gene Expression Regulation, Developmental, Nuclear Proteins, Ear, General Medicine, EYA1, Eyes Absent 1, THF, tetrahydrofuran, Branchio-Oto-Renal Syndrome, Research Article, animal structures, Molecular Sequence Data, RT–PCR, reverse transcription–PCR, Nerve Tissue Proteins, In situ hybridization, Biology, S3, 03 medical and health sciences, medicine, HAD, haloacid dehalogenase, Animals, Humans, Amino Acid Sequence, RNA, Messenger, Eye Proteins, Gene, 030304 developmental biology, DMED, dimethylethylenediamine, Homeodomain Proteins, QPCR, quantitative PCR, disease model, Cell Biology, biology.organism_classification, medicine.disease, Molecular biology, Eyes Absent 1 (EYA1) gene, Disease Models, Animal, spcd, spinal cord, Otic vesicle, sense organs, six, sine oculis, Protein Tyrosine Phosphatases, DIG, digoxigenin, Sequence Alignment, 030217 neurology & neurosurgery, Transcription Factors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4560f2f349c36314b42658495559ce40Test
http://europepmc.org/articles/PMC2825735Test

المؤلفون: Jong-Won Kim, Soon Hee Chang, Chang-Seok Ki, Jong-Hun Shin, S J Park, Chang-Ki Yeo, Eun Hae Cho, SungHee Kim

المصدر: International Journal of Pediatric Otorhinolaryngology. 69:1123-1128

مصطلحات موضوعية: Hearing loss, Kidney, medicine.disease_cause, Hearing Aids, medicine, Humans, Insertion, Hearing Loss, Gene, Branchio-oto-renal syndrome, Genetics, Mutation, Korea, Base Sequence, business.industry, Intracellular Signaling Peptides and Proteins, Nuclear Proteins, Ear, Branchial Cyst, DNA, General Medicine, External ear malformation, medicine.disease, Pedigree, Phenotype, Otorhinolaryngology, Child, Preschool, Pediatrics, Perinatology and Child Health, Preauricular pit, Female, sense organs, Protein Tyrosine Phosphatases, medicine.symptom, Tomography, X-Ray Computed, business, Branchio-Oto-Renal Syndrome, Chromosomes, Human, Pair 8

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a8c9ef756be777bcbff2afc99a000b6Test
https://doi.org/10.1016/j.ijporl.2005.03.003Test

المؤلفون: Brown Mc, Pin-Xian Xu, Richard L. Maas, Joe C. Adams, Heiko Peters, Shaun Heaney

المصدر: Nature Genetics. 23:113-117

مصطلحات موضوعية: Time Factors, Hearing Loss, Conductive, Kidney development, Apoptosis, Kidney, Mice, Paired Box Transcription Factors, Inner ear morphogenesis, Mice, Knockout, Branchio-oto-renal syndrome, Mice, Inbred BALB C, Intracellular Signaling Peptides and Proteins, Gene Expression Regulation, Developmental, Nuclear Proteins, Ear, Cell biology, DNA-Binding Proteins, medicine.anatomical_structure, Ureteric bud, Evoked Potentials, Auditory, Haploinsufficiency, Branchio-Oto-Renal Syndrome, Signal Transduction, medicine.medical_specialty, Fibroblast Growth Factor 3, Nerve Tissue Proteins, Biology, Bone and Bones, PAX8 Transcription Factor, Proto-Oncogene Proteins, Internal medicine, Genetics, medicine, Animals, Humans, Inner ear, Glial Cell Line-Derived Neurotrophic Factor, Nerve Growth Factors, Homeodomain Proteins, urogenital system, PAX2 Transcription Factor, medicine.disease, Fibroblast Growth Factors, Endocrinology, Trans-Activators, sense organs, Otic vesicle, Protein Tyrosine Phosphatases, Transcription Factors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::58cb32fc953fc1b745a1a094a1c15e32Test
https://doi.org/10.1038/12722Test

المؤلفون: Bernice E. Morrow, Laina Freyer

المصدر: Developmental Dynamics. 239:1708-1722

مصطلحات موضوعية: TBX1, Beta-catenin, Neurogenesis, Mice, Transgenic, Biology, Article, Mice, stomatognathic system, DiGeorge Syndrome, Morphogenesis, Animals, Transcription factor, beta Catenin, NeuroD, Wnt signaling pathway, Ear, Embryo, Mammalian, Mice, Mutant Strains, Cell biology, embryonic structures, Cancer research, biology.protein, sense organs, Otic vesicle, Signal transduction, Branchio-Oto-Renal Syndrome, Signal Transduction, Transcription Factors, Developmental Biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9609c00cb1a490acc8649828ae407bc8Test
https://doi.org/10.1002/dvdy.22308Test

المؤلفون: S. Ceruti, C.W.R.J. Cremers, J.W. Casselman, C.I.C. Stinckens

المصدر: Otology & Neurotology, 23, 2, pp. 200-7
Otology & Neurotology, 23, 200-7

مصطلحات موضوعية: Adult, Male, Vestibular aqueduct, Adolescent, Temporal bone, otorhinolaryngologic diseases, medicine, Medical imaging, Humans, Gehoor en communicatie, Prospective Studies, Vestibular system, Fourier Analysis, medicine.diagnostic_test, Semicircular canal, business.industry, Temporal Bone, Ear, Magnetic resonance imaging, Anatomy, equipment and supplies, medicine.disease, Magnetic Resonance Imaging, Sensory Systems, Hypoplasia, Pedigree, medicine.anatomical_structure, Otorhinolaryngology, Child, Preschool, Hearing and Communication Disorders, Middle ear, Female, sense organs, Neurology (clinical), Tomography, X-Ray Computed, business, human activities, Branchio-Oto-Renal Syndrome

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f4ac62f8f6b44f8897c7a7bc122d043Test
https://doi.org/10.1097/00129492-200203000-00016Test