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المؤلفون: Stephanie Keer, Helene Cousin, Karyn Jourdeuil, Karen M. Neilson, Andre L.P. Tavares, Dominique Alfandari, Sally A. Moody
المصدر: Developmental Biology. 489:62-75
مصطلحات موضوعية: Homeodomain Proteins, Neural Plate, Branchial Region, Cartilage, Neural Crest, Gene Expression Regulation, Developmental, RNA-Binding Proteins, Cell Biology, Molecular Biology, Branchio-Oto-Renal Syndrome, Developmental Biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7641effac79851b8c51d92929e76723aTest
https://doi.org/10.1016/j.ydbio.2022.06.002Test -
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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 -
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المؤلفون: Phayvanh P. Sjogren, Albert H. Park, Richard K. Gurgel
المصدر: International Journal of Pediatric Otorhinolaryngology. 90:200-203
مصطلحات موضوعية: Cri-du-Chat Syndrome, Male, Reoperation, Down syndrome, medicine.medical_specialty, Tympanic Membrane, medicine.medical_treatment, Mastoidectomy, Constriction, Pathologic, Mastoid, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Ear canal, Child, 030223 otorhinolaryngology, Spinal Dysraphism, Retrospective Studies, Pierre Robin Syndrome, Cerebrospinal fluid leak, Spina bifida, business.industry, General Medicine, medicine.disease, Surgery, Stenosis, Treatment Outcome, medicine.anatomical_structure, Otorhinolaryngology, Child, Preschool, Pediatrics, Perinatology and Child Health, Pierre Robin syndrome, Female, Angelman Syndrome, Down Syndrome, Trisomy, business, Branchio-Oto-Renal Syndrome, Ear Canal, Mandibulofacial Dysostosis, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0fb6fdc29b72b8343e4c688ce6f78f1fTest
https://doi.org/10.1016/j.ijporl.2016.09.011Test -
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المؤلفون: Kristy L. Kenyon, Sally A. Moody, Karen M. Neilson, Francesca Pignoni, Dominique Alfandari
المصدر: Comparative Biochemistry and Physiology Part C: Toxicology & Pharmacology. 178:16-24
مصطلحات موضوعية: Genetics, Candidate gene, Transcription, Genetic, Physiology, Xenopus, Health, Toxicology and Mutagenesis, Kidney development, Cell Biology, General Medicine, Biology, Kidney, Toxicology, Congenital hearing loss, biology.organism_classification, Biochemistry, Article, Developmental genetics, Animals, Humans, Gene, Branchio-Oto-Renal Syndrome, Gene Discovery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30ecf19215e6338a7a44a00030e233fdTest
https://doi.org/10.1016/j.cbpc.2015.06.007Test -
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المؤلفون: Felecia E. Cerrato, Jeanne Amiel, Matthew S. Edwards, Deborah A. Nickerson, Anita E. Beck, Michael Field, Kathryn M. Shively, Holly K. Tabor, Brian I. Labow, Joshua D. Smith, Jay Shendure, Ana Beatriz Alvarez Perez, Michael J. Bamshad, Martine Le Merrer, Jose A.R. Fortes, Nara Sobreira, Ghislaine Plessis, Maria Luisa Giovannucci Uzielli, Emily H. Turner, Alexander G. Marneros, Christopher T. Gordon, AK Lampe, Margaret J. McMillin, Ernst J Reichenberger
المصدر: The American Journal of Human Genetics. 92:621-626
مصطلحات موضوعية: Male, Ectodermal dysplasia, Molecular Sequence Data, Mutation, Missense, Biology, medicine.disease_cause, Ectodermal Dysplasia, Report, Genetics, medicine, Humans, Missense mutation, Abnormalities, Multiple, Exome, Genetics(clinical), Amino Acid Sequence, Ear, External, Genetics (clinical), Exome sequencing, Branchio-oto-renal syndrome, Hypospadias, Mutation, Scalp, Sequence Homology, Amino Acid, medicine.disease, Pedigree, Protein Structure, Tertiary, Repressor Proteins, Phenotype, Nipples, Muscle Hypotonia, Female, Scalp–ear–nipple syndrome, Co-Repressor Proteins, Branchio-oculo-facial syndrome, Branchio-Oto-Renal Syndrome
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::646b67f8a4280012265fdf3426701f08Test
https://doi.org/10.1016/j.ajhg.2013.03.002Test -
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المؤلفون: Ann N. Deklerck, Sandra Janssens, Frederic Acke, Els De Leenheer
المصدر: International Journal of Pediatric Otorhinolaryngology. 79:216-222
مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Adolescent, Hearing loss, Gene mutation, Audiology, Congenital hearing loss, Connexins, Vestibular Aqueduct, Belgium, otorhinolaryngologic diseases, medicine, Humans, Medical history, Hearing Loss, Retrospective Studies, Genetic testing, Branchio-oto-renal syndrome, medicine.diagnostic_test, business.industry, General Medicine, medicine.disease, Connexin 26, Radiography, Otorhinolaryngology, Child, Preschool, Mutation, Pediatrics, Perinatology and Child Health, Etiology, Female, medicine.symptom, business, Enlarged vestibular aqueduct
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f44b8e150c181a5aa35c9c9ad4ed26dTest
https://doi.org/10.1016/j.ijporl.2014.12.012Test -
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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 -
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المؤلفون: Heide L. Ford, Rui Zhao, Barbara J. Schiemann, Kui Yang, Aaron N. Patrick
المصدر: Journal of Biological Chemistry. 284:20781-20790
مصطلحات موضوعية: Transcriptional Activation, Mutant, Plasma protein binding, Biology, medicine.disease_cause, Biochemistry, Protein Structure, Secondary, chemistry.chemical_compound, Molecular Basis of Cell and Developmental Biology, Cell Line, Tumor, medicine, Humans, Nuclear protein, Promoter Regions, Genetic, Molecular Biology, Cell Nucleus, Homeodomain Proteins, Branchio-oto-renal syndrome, Mutation, Protein Stability, Intracellular Signaling Peptides and Proteins, Wild type, Nuclear Proteins, DNA, Cell Biology, medicine.disease, Molecular biology, Protein Structure, Tertiary, Protein Transport, Amino Acid Substitution, chemistry, Homeobox, Mutant Proteins, Protein Tyrosine Phosphatases, Branchio-Oto-Renal Syndrome, Protein Binding
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::93f861cf4288ffe132e1d2582a10bbc8Test
https://doi.org/10.1074/jbc.m109.016832Test -
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المصدر: Developmental Biology
Dev. Biol. 328, 285-296 (2009)مصطلحات موضوعية: Six1, Mouse, Mutant, Bone Morphogenetic Protein 4, medicine.disease_cause, Kidney, Mice, 0302 clinical medicine, Incus, Inner ear, Sensory patch, BOR, Serrate-Jagged Proteins, Genetics, Branchio-oto-renal syndrome, NeuroD, 0303 health sciences, Mutation, Behavior, Animal, Cell biology, medicine.anatomical_structure, Intercellular Signaling Peptides and Proteins, Hair cell, Branchio-Oto-Renal Syndrome, Jag1, mammalian inner-ear, in-situ hybridization, organ development, bor syndrome, mouse, expression, neurogenesis, mutations, family, kidney, JAG1, Molecular Sequence Data, Mutagenesis (molecular biology technique), Biology, Article, 03 medical and health sciences, Hair Cells, Auditory, medicine, otorhinolaryngologic diseases, Animals, Point Mutation, Amino Acid Sequence, Molecular Biology, Cochlea, 030304 developmental biology, Homeodomain Proteins, SOXB1 Transcription Factors, Calcium-Binding Proteins, Membrane Proteins, Cell Biology, medicine.disease, Embryo, Mammalian, Mice, Mutant Strains, Disease Models, Animal, Ear, Inner, Ethylnitrosourea, sense organs, 030217 neurology & neurosurgery, Jagged-1 Protein, Mutagens, Developmental Biology
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47b7041435c3a3c0661fe3edc5031b84Test
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المؤلفون: Julia Baptista, Milos Nikolic, Peter Frommolt, Magdalena Laugsch, Wilfred F. J. van IJcken, Michaela Bartusel, Tomo Saric, Agathi Karaolidou, Giuliano Crispatzu, Petros Kolovos, Alvaro Rada-Iglesias, Katrin Koehler, Rizwan Rehimi, Katherine Lachlan, Tore Bleckwehl, Hafiza Alirzayeva, Peter Zentis
المساهمون: Innovative Medicines Initiative, European Commission, German Research Foundation, Fritz Thyssen Foundation, Else Kröner-Fresenius Foundation, European Research Council, Cell biology, Clinical Genetics
المصدر: Digital.CSIC. Repositorio Institucional del CSIC
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Cell Stem Cell, 24(5), 736-+. Cell Pressمصطلحات موضوعية: Male, Adolescent, Haploinsufficiency, Computational biology, Biology, Gene dosage, TFAP2A, Structural variation, Mice, Neural crest, 03 medical and health sciences, 0302 clinical medicine, Genetics, Animals, Humans, Allele, Enhancer, Alleles, Cells, Cultured, Cell Proliferation, 030304 developmental biology, 0303 health sciences, Breakpoint, Cell Differentiation, Cell Biology, 3. Good health, Enhancer adoption, Enhancer Elements, Genetic, Transcription Factor AP-2, Genomic Structural Variation, Mutation, Enhancer disconnection, Molecular Medicine, Single-Cell Analysis, Branchio-Oto-Renal Syndrome, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46662c109ac4454f5808e1765bd827cfTest
https://doi.org/10.1016/j.stem.2019.03.004Test