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: Green, Rebecca M., Feng, Weiguo, Phang, Tzulip, Fish, Jennifer L., Li, Hong, Spritz, Richard A., Marcucio, Ralph S., Hooper, Joan, Jamniczky, Heather, Hallgrímsson, Benedikt, Williams, Trevor

مصطلحات موضوعية: BOFS, Geometric morphometrics, Fgf signaling pathway, Craniofacial Abnormalities, Transcription Factor AP-2, Branchio-Oto-Renal Syndrome, Cleft Lip, Palate

جغرافية الموضوع: Aurora (Colo.)

وصف الملف: application/pdf

العلاقة: Print #M121. Tfap2a-dependent changes in mouse facial morphology result in clefting that can be ameliorated by a reduction in Fgf8 gene dosage. 2015; Health Sciences Library Photograph Collection and Special Collections, University of Colorado Anschutz Medical Campus; Publications.; Green, Rebecca M., Feng, Weiguo, Phang, Tzulip, Fish, Jennifer L., Li, Hong, Spritz, Richard A., Marcucio, Ralph S., Hooper, Joan, Jamniczky, Heather, Hallgrimsson, Benedikt, Williams, Trevor, Tfap2a-dependent changes in mouse facial morphology result in clefting that can be ameliorated by a reduction in Fgf8 gene dosage. Disease Models & Mechanisms (2015)7. doi:10.1242/dmm.017616; http://hdl.handle.net/10968/1158Test; http://dx.doi.org/doi:10.1242/dmm.017616Test

الإتاحة: https://doi.org/10.1242/dmm.017616Test
http://hdl.handle.net/10968/1158Test

المؤلفون: Rassekh, Christopher H., Kazahaya, Ken, Livolsi, Virginia A., Loevner, Laurie A., Cowan, Andy T., Weinstein, Gregory S., Chen, Amy

المصدر: Head & Neck; Feb2016, Vol. 38 Issue 2, pE49-E53, 5p

مصطلحات موضوعية: SURGICAL robots, BRANCHIAL cleft fistula, FISTULA, BRANCHIO-oto-renal syndrome, SURGERY

المؤلفون: Bertucci, Emma, Mazza, Vincenzo, Lugli, Licia, Ferrari, Fabrizio, Stanghellini, Ilaria, Percesepe, Antonio

المصدر: Journal of Obstetrics & Gynaecology Research; Nov2015, Vol. 41 Issue 11, p1831-1834, 4p, 2 Graphs

مصطلحات موضوعية: KIDNEY disease diagnosis, DIAGNOSIS of deafness, AUDITORY perception testing, BRANCHIO-oto-renal syndrome, COMPUTED tomography, FETAL ultrasonic imaging, MAGNETIC resonance imaging, SECOND trimester of pregnancy, PRENATAL diagnosis, CHILDREN, FETUS, GENETICS, DIAGNOSIS

المؤلفون: Eriko Nishi, Takuma Iwaki, Toru Igarashi, Naoya Morisada, Shuichi Ito, Shunsuke Goto, Nobuya Takahashi, Shoichiro Kanda, Tomoaki Ishikawa, Yasufumi Ohtsuka, Koji Nagatani, Takayuki Okamoto, Ming Juan Ye, Nobuhiko Okamoto, Yuji Inaba, Shihomi Ina, Naoko Ito, Kazumoto Iijima, Ken Ito, Mayumi Yahata, Kenji Ishikura, Kandai Nozu, Kazuyuki Ueno, Ai Unzaki, Tatsuo Matsunaga, Kohei Omune

المصدر: Journal of Human Genetics. 63:647-656

مصطلحات موضوعية: Adult, Genetic Markers, Male, 0301 basic medicine, Pathology, medicine.medical_specialty, Adolescent, Genotype, Hearing loss, 030232 urology & nephrology, Genetic analysis, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Genetics, medicine, Humans, Cyst, Multiplex ligation-dependent probe amplification, Child, Genetic Association Studies, Genetics (clinical), Aged, Branchio-oto-renal syndrome, Comparative Genomic Hybridization, business.industry, Infant, Newborn, Intracellular Signaling Peptides and Proteins, Genetic Variation, Infant, Nuclear Proteins, Middle Aged, medicine.disease, Phenotype, 030104 developmental biology, Genetic marker, Child, Preschool, Female, Protein Tyrosine Phosphatases, medicine.symptom, business, Branchio-Oto-Renal Syndrome, Comparative genomic hybridization

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5db57333aa05cf8406328a7c3ee7778Test
https://doi.org/10.1038/s10038-018-0429-8Test

المؤلفون: S. T. Holden, Nigel Burrows, N. Stembridge

المصدر: Clinical and experimental dermatologyReferences. 46(8)

مصطلحات موضوعية: medicine.medical_specialty, business.industry, Infant, Dermatology, medicine.disease, Ectodermal Dysplasia, medicine, Humans, Female, business, Branchio-oculo-facial syndrome, Branchio-Oto-Renal Syndrome, Aplasia cutis

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9d5f7145e9a050845b5da1c9121ec99Test
https://pubmed.ncbi.nlm.nih.gov/34435384Test

المؤلفون: Hao, Zheng, Jun, Xu, Yu, Wang, Yun, Lin, Qingqiang, Hu, Xing, Li, Jiusheng, Chu, Changling, Sun, Yongchuan, Chai, Xiuhong, Pang

المصدر: Neural Plasticity

مصطلحات موضوعية: Male, Hearing Loss, Sensorineural, Intracellular Signaling Peptides and Proteins, High-Throughput Nucleotide Sequencing, Nuclear Proteins, Exons, Deafness, Polymerase Chain Reaction, High-Throughput Screening Assays, Pedigree, Mutagenesis, Insertional, Humans, sense organs, Protein Tyrosine Phosphatases, 5' Untranslated Regions, Child, Codon, Hearing Loss, Branchio-Oto-Renal Syndrome, Gene Deletion, Research Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::4f28a1396821b890bfef1aae6fbdfbd4Test
https://pubmed.ncbi.nlm.nih.gov/33880118Test

المؤلفون: Lingyun Mei, Chufeng He, Jian Song, Anhai Chen, Yong Feng, Frederic Acke, Xinzhang Cai

المصدر: Clinical geneticsREFERENCES. 100(1)

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Genotype, Hearing loss, 030105 genetics & heredity, 03 medical and health sciences, Genetics, medicine, SALL1, Animals, Humans, Spectrum disorder, In patient, Ear Diseases, Genetics (clinical), business.industry, Dermatology, Phenotype, 030104 developmental biology, Renal abnormalities, Meta-analysis, Mutation, medicine.symptom, business, Branchio-Oto-Renal Syndrome

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82c4c8469c0f981b27ecbac98ef162b3Test
https://pubmed.ncbi.nlm.nih.gov/33624842Test

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: O. P. Ryzhkova, O. L. Mironovich, E. A. Bliznetz, N N Alekseeva, T. G. Markova, T. I. Golybeva, A. V. Polyakov

المصدر: Russian Journal of Genetics. 55:630-638

مصطلحات موضوعية: 0106 biological sciences, Branchio-oto-renal syndrome, 0303 health sciences, Pathology, medicine.medical_specialty, Autosomal dominant trait, Biology, medicine.disease, 01 natural sciences, Human genetics, 03 medical and health sciences, Renal abnormalities, Genetics, medicine, Preauricular pit, Russian federation, 030304 developmental biology, 010606 plant biology & botany

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::6bf26fd3a3f9237fb1dddcd3eede6d9dTest
https://doi.org/10.1134/s1022795419050119Test