المؤلفون: Ashima Gulati, Alda Tufro, Neera K. Dahl

المصدر: Pediatric Nephrology (Berlin, Germany)

مصطلحات موضوعية: Male, Adolescent, 030232 urology & nephrology, Computational biology, 030204 cardiovascular system & hematology, medicine.disease_cause, Polymorphism, Single Nucleotide, 03 medical and health sciences, 0302 clinical medicine, Exome Sequencing, Humans, Medicine, Genomic medicine, Renal Insufficiency, Chronic, Child, Gene panels, Uncertain significance, Glomerular diseases, Exome sequencing, Educational Review, Mutation, Genetic glomerulopathies, business.industry, Age Factors, Whole exome sequencing, High-Throughput Nucleotide Sequencing, Infant, Middle Aged, Pedigree, Nephrology, Pediatrics, Perinatology and Child Health, Kidney Failure, Chronic, Female, Human genome, Genomic information, business, Genetic diagnosis, Branchio-Oto-Renal Syndrome

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1bb8f57240b2989e1ab39fb08a924f97Test
https://doi.org/10.1007/s00467-019-04266-yTest

المؤلفون: Guomin Li, Yu An, Hong Xu, Li Sun, Haimei Liu, Qian Shen

المصدر: Intractable & Rare Diseases Research. 7:42-45

مصطلحات موضوعية: Genetics, Branchio-oto-renal syndrome, Mutation, Direct sequencing, Hearing loss, business.industry, 030232 urology & nephrology, General Medicine, medicine.disease_cause, medicine.disease, Ear malformations, 03 medical and health sciences, Exon, 0302 clinical medicine, medicine, medicine.symptom, 030223 otorhinolaryngology, business, Novel mutation, Gene

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::219e58736569431380d37e0a7404af89Test
https://doi.org/10.5582/irdr.2017.01075Test

المؤلفون: Heiko Reutter, Florian Marsch, Janine Altmüller, Rong Zhang, Michael Ludwig, Franziska Kause, Holger Thiele

المصدر: Molecular Medicine Reports.

مصطلحات موضوعية: Male, 0301 basic medicine, Heterozygote, Cancer Research, animal structures, RNA Splicing, DNA Mutational Analysis, Nerve Tissue Proteins, medicine.disease_cause, Biochemistry, 03 medical and health sciences, symbols.namesake, Zinc Finger Protein Gli3, Exome Sequencing, GLI3, Genetics, medicine, Humans, Protein Isoforms, Hedgehog Proteins, Sonic hedgehog, Esophageal Atresia, Molecular Biology, Exome sequencing, Sanger sequencing, Mutation, Polymorphism, Genetic, biology, Genetic heterogeneity, Intracellular Signaling Peptides and Proteins, Nuclear Proteins, medicine.disease, Digenic inheritance, Pedigree, 030104 developmental biology, Oncology, Atresia, embryonic structures, biology.protein, symbols, Molecular Medicine, Female, Protein Tyrosine Phosphatases, Branchio-Oto-Renal Syndrome

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad3beb0859ac528a88b7f7a0554fc1ecTest
https://doi.org/10.3892/mmr.2017.8196Test

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

المؤلفون: Yi-Ning Su, Chuan-Jen Hsu, Chen-Chi Wu, Wuh-Liang Hwu, Yin-Hung Lin, I-Shing Yu, Ying-Chang Lu, Shih-Hao Wang

المصدر: The Laryngoscope. 122:1130-1136

مصطلحات موضوعية: Adult, Male, Blotting, Western, Population, Taiwan, Pedigree chart, medicine.disease_cause, Polymerase Chain Reaction, Muscular Dystrophies, law.invention, law, medicine, Humans, Genetic Testing, Prospective Studies, Child, Prospective cohort study, education, Gene, Genetic Association Studies, Polymerase chain reaction, Aged, Homeodomain Proteins, Genetics, Branchio-oto-renal syndrome, Mutation, education.field_of_study, business.industry, Intracellular Signaling Peptides and Proteins, Nuclear Proteins, DNA, medicine.disease, Phenotype, Pedigree, Otorhinolaryngology, Child, Preschool, Female, Protein Tyrosine Phosphatases, business, Branchio-Oto-Renal Syndrome

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3af088fa8372242d0680d00bb7511c6cTest
https://doi.org/10.1002/lary.23217Test

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: 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

المؤلفون: Helmut Fuchs, Martin Hrabé de Angelis, Karen P. Steel, Erika A. Bosman, Elizabeth Quint

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

المؤلفون: Henri A. M. Marres, Guy Van Camp, Stephanie M. Fischer, William J. Kimberling, Katherine O. Welch, Richard J.H. Smith, Uppala Radhakrishna, Jessica L. Sorensen, Cor W. R. J. Cremers, Dana J. Orten

المصدر: Human mutation
Human Mutation, 29, 4, pp. 537-44
Human Mutation, 29, 537-44

مصطلحات موضوعية: Male, Hearing loss, RNA Splicing, DNA Mutational Analysis, Molecular Sequence Data, Mutation, Missense, Biology, medicine.disease_cause, Polymorphism, Single Nucleotide, Frameshift mutation, Exon, Translational research [ONCOL 3], Perception and Action [DCN 1], Genetics, medicine, Humans, Neurosensory disorders [UMCN 3.3], Missense mutation, Amino Acid Sequence, Frameshift Mutation, Genetics (clinical), Genes, Dominant, Branchio-oto-renal syndrome, Mutation, Sequence Homology, Amino Acid, Genetic heterogeneity, Intracellular Signaling Peptides and Proteins, Nuclear Proteins, Exons, medicine.disease, Phenotype, Case-Control Studies, Female, Protein Tyrosine Phosphatases, medicine.symptom, Functional Neurogenomics [DCN 2], Branchio-Oto-Renal Syndrome

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87391de3b0cb3a3985aeaf255b9227e5Test
https://hdl.handle.net/2066/70450Test

المؤلفون: Sang Heun Lee, Chang-Seok Ki, Un Kyung Kim, Kyu Yup Lee, SungHee Kim

المصدر: International Journal of Pediatric Otorhinolaryngology. 71:169-174

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Hearing loss, media_common.quotation_subject, Nonsense, medicine.disease_cause, Asian People, Sequence Analysis, Protein, Molecular genetics, Humans, Medicine, media_common, Genetics, Branchio-oto-renal syndrome, Mutation, business.industry, Intracellular Signaling Peptides and Proteins, Infant, Nuclear Proteins, Branchial Cyst, General Medicine, Middle Aged, External ear malformation, medicine.disease, Pedigree, Otorhinolaryngology, Codon, Nonsense, Child, Preschool, Pediatrics, Perinatology and Child Health, Preauricular pit, Female, sense organs, Protein Tyrosine Phosphatases, medicine.symptom, business, Branchio-Oto-Renal Syndrome

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c85888d9b903a480f3b199e3c1ef2705Test
https://doi.org/10.1016/j.ijporl.2006.08.023Test