المؤلفون: Têmis Maria Félix, Leticia Petersen Schmidt Rosito, Sady Selaimen da Costa, Marina Faistauer, Renata Bohn, Alice Lang Silva, Liliane Todeschini de Souza

المصدر: Brazilian Journal of Otorhinolaryngology, Volume: 88 Supplement 1, Pages: 33-41, Published: 13 JAN 2023

مصطلحات موضوعية: Congênita, Pediatrics, medicine.medical_specialty, Hearing loss, Auditory neuropathy, Population, Conexina 26, Congenital, 03 medical and health sciences, 0302 clinical medicine, 030225 pediatrics, Prevalence, otorhinolaryngologic diseases, medicine, Prevalência, Medical history, 030223 otorhinolaryngology, education, Lactente, education.field_of_study, biology, medicine.diagnostic_test, business.industry, Infant, Neuropatia auditiva, medicine.disease, Connexin 26, Auditory brainstem response, Otorhinolaryngology, biology.protein, Etiology, Audiometry, medicine.symptom, business, GJB6

وصف الملف: text/html

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e6c1cb5e247ccde2a7daf4c5d3a1dd4Test
https://doi.org/10.1016/j.bjorl.2021.02.012Test

المؤلفون: Diego Mariano, Cindy Yukimi Sonoda, Juliana Sampaio-Silva, Osório Abath-Neto, Vinicius Pedroso-Campos, Estefany Uchoa da Silva de Oliveira Longati, Karina Lezirovitz, Ana Carla Batissoco, Ricardo Ferreira Bento, Rafaela Jesus-Santos, Jeanne Oiticica, Ana Cristina Hiromi Hoshino, Gleiciele Alice Vieira-Silva, Robinson Koji Tsuji, Eliete Pardono

المصدر: Human Genetics. 141:519-538

مصطلحات موضوعية: Proband, Pediatrics, medicine.medical_specialty, Hearing loss, Auditory neuropathy, Population, Connexins, Cohort Studies, Genetics, medicine, Humans, Genetic Testing, Hearing Loss, education, Genetics (clinical), education.field_of_study, biology, Waardenburg syndrome, Genetic heterogeneity, medicine.disease, Human genetics, Connexin 26, Mutation, biology.protein, medicine.symptom, Brazil, GJB6

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b8dbb6ace2476ee6c79c9728d37428eTest
https://doi.org/10.1007/s00439-021-02372-2Test

المؤلفون: Fábio André Dias, Raíssa de Oliveira Aquino Schüffner, Wrgelles Godinho Bordone Pires, Pedro Henrique Teodoro da Silva, Nilson Moreira Cipriano, Karla Lima Nascimento, Luciana Lara dos Santos

المصدر: Brazilian Journal of Otorhinolaryngology, Vol 86, Iss 3, Pp 327-331 (2020)
Brazilian Journal of Otorhinolaryngology v.86 n.3 2020
Brazilian Journal of Otorhinolaryngology
Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial (ABORL-CCF)
instacron:ABORL-CCF
Brazilian Journal of Otorhinolaryngology, Volume: 86, Issue: 3, Pages: 327-331, Published: 13 JUL 2020

مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, Genotype, Hearing loss, Hearing Loss, Sensorineural, Population, Consanguinity, Polymerase Chain Reaction, Young Adult, GJB6, Epidemiology, otorhinolaryngologic diseases, medicine, Humans, Perda auditiva, Child, education, Allele frequency, education.field_of_study, biology, business.industry, Brasil, Incidence (epidemiology), lcsh:Otorhinolaryngology, medicine.disease, lcsh:RF1-547, GJB2, Otorhinolaryngology, Child, Preschool, Mutation, biology.protein, Female, Sensorineural hearing loss, medicine.symptom, business, Brazil

وصف الملف: text/html

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3e84700c97917f1397e1225500cc6d7Test
https://doi.org/10.1016/j.bjorl.2018.12.005Test

المؤلفون: Maryam Eslami, Marjan Zarif-Yeganeh, Azam Hosseinipour, Farnoush Aliazami, Roxana Sasanfar, Siamak Salehi, Dariush D. Farhud

المصدر: Iranian Journal of Public Health
Iranian Journal of Public Health, Vol 49, Iss 11, Pp 2128-2135 (2020)

مصطلحات موضوعية: Genetics, education.field_of_study, biology, Hearing loss, lcsh:Public aspects of medicine, Population, Non-syndromic hearing loss (NSHL), Public Health, Environmental and Occupational Health, Locus (genetics), lcsh:RA1-1270, Gene mutation, Iran, medicine.disease, Erythrokeratodermia variabilis, Connexin31 (Cx31), biology.protein, medicine, otorhinolaryngologic diseases, Ethnicity, Missense mutation, Original Article, medicine.symptom, education, Gene, GJB6

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c314376d34e1e4de255ddcc7fcacf480Test
http://europepmc.org/articles/PMC7917519Test

المؤلفون: Edmond Wonkam Tingang, Oluwafemi Gabriel Oluwole, Emile R. Chimusa, Jean Jacques Noubiap, Séraphin Nguefack, Ambroise Wonkam, Jean Valentin F. Fokouo

المصدر: Genes
Genes, Vol 11, Iss 2, p 233 (2020)

مصطلحات موضوعية: 0301 basic medicine, Proband, Pediatrics, medicine.medical_specialty, lcsh:QH426-470, Genotype, Usher syndrome, Hearing Loss, Sensorineural, Population, prevalence, Review, Deafness, Connexins, etiologies, 03 medical and health sciences, 0302 clinical medicine, Medicine, Humans, genetics, Cameroon, 030223 otorhinolaryngology, education, Hearing Loss, Genetics (clinical), education.field_of_study, biology, business.industry, Pathogenic mutation, Incidence (epidemiology), Incidence, hearing impairment, medicine.disease, 3. Good health, lcsh:Genetics, 030104 developmental biology, Africa, Mutation, biology.protein, Etiology, business, Meningitis, GJB6

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81a6120031357dd7171bba61c278e95bTest
http://europepmc.org/articles/PMC7073999Test

المؤلفون: Bassel Al-Halabi, Walid Al-Achkar, Bashar Ali, Faten Moassass

المصدر: International Journal of Pediatric Otorhinolaryngology. 92:82-87

مصطلحات موضوعية: Male, 0301 basic medicine, Heterozygote, Genotype, Hearing loss, Hearing Loss, Sensorineural, Population, 030105 genetics & heredity, Compound heterozygosity, Polymerase Chain Reaction, Connexins, 03 medical and health sciences, Connexin 30, Humans, Medicine, education, Sequence Deletion, Genetics, education.field_of_study, Splice site mutation, Syria, biology, business.industry, Exons, General Medicine, medicine.disease, Connexin 26, 030104 developmental biology, Otorhinolaryngology, Mutation, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), biology.protein, Female, Sensorineural hearing loss, medicine.symptom, business, Multiplex Polymerase Chain Reaction, Polymorphism, Restriction Fragment Length, GJB6

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8810a609f2a352b7a3a347d7e204c3c8Test
https://doi.org/10.1016/j.ijporl.2016.11.015Test

المؤلفون: Zengli Liu, Tianli Chen, Rongqi Sun, Yunfei Xu, Bo Qiu, Xiaoming Zhang, Zongli Zhang, Zhipeng Li

المصدر: EBioMedicine

مصطلحات موضوعية: Oncology, Male, Research paper, TCF4, Transcription factor 4, RUNX2, Runt related transcription factor 2, CD44, Cluster of differentiation 44, 0302 clinical medicine, Transcription (biology), MMP26, Matrix metalloproteinase 26, Medicine, IHCC, Intrahepatic cholangiocarcinoma, CCA, Cholangiocarcinoma, education.field_of_study, qRT-PCR, Quantitative real-time PCR, GJA1, Gap junction alpha-1, PBS, Phosphate buffer saline, General Medicine, TCF4, SOX2, SRY-box 2, Prognosis, SOX9, SRY-box 9, Reverse transcription polymerase chain reaction, Gene Expression Regulation, Neoplastic, 030220 oncology & carcinogenesis, Disease Progression, CCND1, Cyclin D1, Immunohistochemistry, PPAR, Peroxisome proliferating activation receptor, GJB6, Gap junction beta-6, CDH1, Cadherin 1, SALL4, Spalt like transcription factor 4, medicine.medical_specialty, General Biochemistry, Genetics and Molecular Biology, Proto-Oncogene Proteins c-myc, 03 medical and health sciences, Transcription factor 7, SALL4, Secreted frizzled-related protein 1, SDS-PAGE, Sodium dodecyl sulfate polyacrylamide gel electrophoresis, PVDF, Polyvinylidene fluoride, Humans, FOSL1, FOS-like antigen 1, education, Aged, FGF3, Fibroblast growth factor 3, CD44, HATH1, Human atonal homolog 1, FOS-like antigen 1, FOSL1, CDX4, Caudal type homeobox 4, 030104 developmental biology, Bile Ducts, Intrahepatic, Perihilar cholangiocarcinoma, 0301 basic medicine, IHC, Immunohistochemistry, CCK-8, Cell counting kit-8, MAPK, Mitogen-activated protein kinase, TCF7, Transcription factor 7, COX2, Cyclooxygenase 2, ID2, Inhibitor of DNA binding 2, FGF9, Fibroblast growth factor 9, AJCC/UICC, American joint committee on cancer/Union for International Cancer Control, SFRP1, Secreted frizzled related protein 1, BIRC5, Baculoviral IAP repeat containing 5, T Cell Transcription Factor 1, PTTG1, Pituitary tumor-transforming 1, Perihilar Cholangiocarcinoma, TWIST1, TWIST family BHLH transcription factor 1, Tissue microarray, biology, Progression, ERK, Extracellular regulated protein kinases, FOXN1, Forkhead box N1, Middle Aged, Real-time polymerase chain reaction, TMA, Tissue microarray, FGF4, Fibroblast growth factor 4, Female, Proto-Oncogene Proteins c-fos, Poor prognosis, IRX3, Iroquois Homeobox 3, KRAS, Kirsten rat sarcoma viral oncogene, DCC, Distal cholangiocarcinoma, Internal medicine, Cell Line, Tumor, CDX1, Caudal type homeobox 1, Biomarkers, Tumor, C-Myc, CCN1, Cysteine rich 61, In patient, MMP7, Matrix metalloproteinase 7, business.industry, Transcription Factor 7, AXIN2, Axis inhibition protein 2, AP-1, Activating protein-1, biology.protein, Cancer research, FBS, Fetal bovine serum, PHCC, Perihilar cholangiocarcinoma, business, OS, Overall survival rate, Klatskin Tumor

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::155cb7697f054b98040d94d0bc60a157Test
https://pubmed.ncbi.nlm.nih.gov/31248836Test

المؤلفون: Fatima Ammar-Khodja, Christine Petit, Malika Dahmani, Fabienne Wong Jun Tai, Malek Louha, Jean-Pierre Hardelin, Farid Boudjenah, Zied Riahi, Crystel Bonnet, Sonia Talbi

المساهمون: Université des Sciences et de la Technologie Houari Boumediene [Alger] (USTHB), Génétique et Physiologie de l'Audition, Institut Pasteur [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Hôpital de Frantz fanon, Hôpital Sidi Belloua, Service de Biochimie et de Biologie Moléculaire [CHU Trousseau], CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Chaire Génétique et physiologie cellulaire, Collège de France (CdF (institution)), This work was supported by grants from the Algerian government, LabEx Lifesenses (ANR-10-LABX-65), the Fondation BNP Paribas, the Fondation Raymonde & Guy Strittmatter., The authors thank the directors of deafness schools and the families for their participation in this study., ANR-10-LABX-0065,LIFESENSES,DES SENS POUR TOUTE LA VIE(2010), Université des Sciences et de la Technologie Houari Boumediene = University of Sciences and Technology Houari Boumediene [Alger] (USTHB), Institut Pasteur [Paris] (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Collège de France - Chaire Génétique et physiologie cellulaire

المصدر: International Journal of Pediatric Otorhinolaryngology
International Journal of Pediatric Otorhinolaryngology, Elsevier, 2018, 112, pp.1-5. ⟨10.1016/j.ijporl.2018.06.012⟩
International Journal of Pediatric Otorhinolaryngology, 2018, 112, pp.1-5. ⟨10.1016/j.ijporl.2018.06.012⟩

مصطلحات موضوعية: 0301 basic medicine, Male, MESH: Extracellular Matrix Proteins, [SDV]Life Sciences [q-bio], MESH: Calcium-Binding Proteins, MESH: Genetic Markers, Connexins, MESH: Membrane Transport Proteins, Consanguinity, Genetic heterogeneity, Medicine, TECTA, Exome sequencing, Genetics, education.field_of_study, Extracellular Matrix Proteins, biology, MESH: Genetic Heterogeneity, General Medicine, 3. Good health, Connexin 26, Sulfate Transporters, Myosin VIIa, Female, MESH: Algeria, GJB6, Genetic Markers, MESH: Mutation, Genetic counseling, Population, Myosins, GPI-Linked Proteins, Hearing impairment, 03 medical and health sciences, Monoallelic Mutation, otorhinolaryngologic diseases, Humans, MESH: Myosin VIIa, education, Hearing Loss, MESH: Hearing Loss, MESH: Consanguinity, MESH: Humans, business.industry, Calcium-Binding Proteins, Membrane Transport Proteins, MESH: Myosins, MESH: Sulfate Transporters, MESH: Male, MESH: Connexins, 030104 developmental biology, Otorhinolaryngology, Algeria, Pediatrics, Perinatology and Child Health, Mutation, biology.protein, MESH: GPI-Linked Proteins, business, MESH: Female

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15100fce6bc1958062d23c995bb02a78Test
https://hal-pasteur.archives-ouvertes.fr/pasteur-03219637Test

المؤلفون: Duong Thi Thu Ha, Nguyen Thuy Duong, Nong Van Hai, Huynh Thi Thu Hue, Nguyen Hai Ha, Nguyen Van Phong, Nguyen Thi Xuan, Nguyen Dang Ton, Phi Thi Thu Trang, Nguyen Tuyet Xuong, Ian Holt

المصدر: Asian Journal of Biomedical and Pharmaceutical Sciences. :1-7

مصطلحات موضوعية: Genetics, education.field_of_study, Mutation, biology, business.industry, Hearing loss, Population, Gene mutation, medicine.disease_cause, DNA sequencing, law.invention, law, otorhinolaryngologic diseases, biology.protein, Medicine, medicine.symptom, education, business, Gene, Polymerase chain reaction, GJB6

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::792c2796482b2526d9a508f3086abccfTest
https://doi.org/10.15272/ajbps.v5i46.714Test

المؤلفون: Maria C. Guarnaccia, Anna Ravani, Cristina Falcinelli, Ilaria Stanghellini, Antonio Percesepe, Elisabetta Genovese, Silvia Palma

المصدر: Genetic Testing and Molecular Biomarkers. 18:839-844

مصطلحات موضوعية: Male, Heterozygote, medicine.medical_specialty, Hearing loss, Hearing Loss, Sensorineural, Population, Biology, Compound heterozygosity, gene testing, GJB2, Connexins, Loss of heterozygosity, Gene Frequency, Genotype, Connexin 30, medicine, Humans, Point Mutation, education, Allele frequency, Alleles, Genetics (clinical), Genetics, education.field_of_study, General Medicine, Connexin 26, Phenotype, biology.protein, Medical genetics, Female, medicine.symptom, GJB6

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ee9e1af219d36eea54649bac6584d66Test
https://doi.org/10.1089/gtmb.2014.0185Test