المؤلفون: Elena Cacciatori, Sebastiano Aleo, Giulietta Scuvera, Chiara Rigon, Paola Giovanna Marchisio, Matteo Cassina, Donatella Milani

المصدر: Italian Journal of Pediatrics, Vol 48, Iss 1, Pp 1-6 (2022)

مصطلحات موضوعية: Branchio-oto-renal syndrome, Deafness, EYA1, Copy number variation – case report, Pediatrics, RJ1-570

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1824-7288Test

الوصول الحر: https://doaj.org/article/8030015ccf53465ba0ce88cd1561ec68Test

المؤلفون: Cacciatori, Elena, Aleo, Sebastiano, Scuvera, Giulietta, Rigon, Chiara, Marchisio, Paola Giovanna, Cassina, Matteo, Milani, Donatella

المصدر: Italian Journal of Pediatrics; 10/1/2022, Vol. 48 Issue 1, p1-6, 6p

مصطلحات موضوعية: MOLECULAR diagnosis, SEQUENCE analysis, DEAFNESS, GENETIC polymorphisms, BRANCHIO-oto-renal syndrome, CHROMOSOME abnormalities

المؤلفون: Parkes, William J.^1,2 william.parkes@nemours.org, Cushing, Sharon L.³, Blaser, Susan I.^3,4, Papsin, Blake C.³

المصدر: International Journal of Pediatric Otorhinolaryngology. Nov2018, Vol. 114, p92-96. 5p.

مصطلحات موضوعية: *BRANCHIO-oto-renal syndrome, *MASTOID process surgery, *COCHLEAR implants, *COMPUTED tomography

المؤلفون: Dantas, Vitor G.L.¹ (AUTHOR), Freitas, Erika L.¹ (AUTHOR), Della-Rosa, Valter A.² (AUTHOR), Lezirovitz, Karina^1,3 (AUTHOR), de Moraes, Ana Maria S.M.⁴ (AUTHOR), Ramos, Silvia B.⁵ (AUTHOR), Oiticica, Jeanne³ (AUTHOR), Alves, Leandro U.¹ (AUTHOR), Pearson, Peter L.¹ (AUTHOR), Rosenberg, Carla¹ (AUTHOR), Mingroni-Netto, Regina C.¹ (AUTHOR) renetto@ib.usp.br

المصدر: International Journal of Audiology. Sep2015, Vol. 54 Issue 9, p593-598. 6p. 2 Diagrams, 2 Charts, 3 Graphs.

مصطلحات موضوعية: *EAR abnormalities, *BRANCHIO-oto-renal syndrome, *COMPUTED tomography, *DEAFNESS, *FAMILIES, *GENE mapping, *GENEALOGY, *GENETIC techniques, *HEARING disorders, *POLYMERASE chain reaction, *GENETICS

مصطلحات جغرافية: BRAZIL

المؤلفون: Andrade Lindau, Tâmara¹, Vieira Cardoso, Ana Cláudia¹, Freitas Rossi, Natalia¹, Giacheti, Célia Maria¹ giacheti@uol.com.br

المصدر: International Archives of Otorhinolaryngology. 2014, Vol. 18 Issue 1, p68-70. 9p.

مصطلحات موضوعية: *BRANCHIO-oto-renal syndrome, *CHROMOSOMES, *DEAFNESS, *AUDITORY pathways, *HUMAN abnormalities, *CLEFT palate, *PATIENTS, *DISEASE risk factors

المؤلفون: Brophy, Patrick D.¹, Alasti, Fatemeh², Darbro, Benjamin W.¹, Clarke, Jason¹, Nishimura, Carla², Cobb, Bryan³, Smith, Richard J.² richard-smith@uiowa.edu, Manak, J. Robert^1,3,4 john-manak@uiowa.edu

المصدر: Human Genetics. Dec2013, Vol. 132 Issue 12, p1339-1350. 12p.

مصطلحات موضوعية: *DNA copy number variations, *BRANCHIO-oto-renal syndrome, *GENETIC recombination, *GENETIC mutation, *DELETION mutation, *COHORT analysis, *GENETIC code, *DEAFNESS

المؤلفون: Niels West, Per Cayé-Thomasen, Luchen Tian

المصدر: Cochlear implants international. 23(1)

مصطلحات موضوعية: Adult, Pediatrics, medicine.medical_specialty, Hearing loss, Hearing Loss, Sensorineural, Auditory implant, Deafness, Speech and Hearing, Initial visit, Inner ear malformation, otorhinolaryngologic diseases, Medicine, Humans, Inner ear, Cochlear implantation, Child, Hearing Loss, Branchio-oto-renal syndrome, business.industry, medicine.disease, Cochlear Implantation, medicine.anatomical_structure, Cochlear Implants, Treatment Outcome, Otorhinolaryngology, Ear, Inner, medicine.symptom, business, Medline database

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3294c3345fef9e72b4c871a36684618aTest
https://pubmed.ncbi.nlm.nih.gov/34498539Test

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: Deng, Lisha¹, Liu, Yuanzhen², Xia, Wenjun³, Hu, Jiongjiong¹, Ma, Zhaoxin¹ mzhx114@163.com

المصدر: Molecular Genetics & Genomic Medicine. Feb2019, Vol. 7 Issue 2, pN.PAG-N.PAG. 1p.

مصطلحات موضوعية: *BRANCHIO-oto-renal syndrome, *DEAFNESS, *FUNCTIONAL analysis, *NUCLEOTIDE sequencing, *MISSENSE mutation

المؤلفون: Wang, Yan-gong¹ 14111510016@fudan.edu.cn, Sun, Shu-ping² apple85120@163.com, Qiu, Yi-ling³ nessyqiu@126.com, Xing, Qing-he¹ xingqinghe@hotmail.com, Lu, Wei² luweimd@hotmail.com

المصدر: BMC Medical Genetics. 8/7/2018, Vol. 19 Issue 1, pN.PAG-N.PAG. 1p.

مصطلحات موضوعية: *BRANCHIO-oto-renal syndrome, *PHENOTYPES, *DNA, *GENETIC testing, *DEAFNESS