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91دورية أكاديمية
المؤلفون: Reynoso, Raúl, Hendl, Silvia, Berteik, María, Carlos, Curet, Nicemboin, Luis, Moreno Barral, José, Rodriguez Ballesteros, Montserrat, Del Castillo, Ignacio, Moreno, Felipe
المصدر: Revista de la Facultad de Ciencias Médicas de Córdoba; Vol. 61 Núm. 1 (2004); 13 - 19 ; Revista da Faculdade de Ciências Médicas de Córdoba; v. 61 n. 1 (2004); 13 - 19 ; 1853-0605 ; 0014-6722
مصطلحات موضوعية: Hipoacusia, GJ32, GJB6, DFB1, DFNB9, Q829X, Conexina 26, Otoferlina, Conexina 30, OTOF
وصف الملف: application/pdf
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92
المؤلفون: I. V. Kanivets, A. V. Polyakov, E. A. Bliznetz
المصدر: Russian Journal of Genetics. 53:795-803
مصطلحات موضوعية: 0301 basic medicine, Genetics, biology, Copy number analysis, Locus (genetics), Compound heterozygosity, medicine.disease, Molecular biology, Human genetics, 03 medical and health sciences, 030104 developmental biology, otorhinolaryngologic diseases, biology.protein, medicine, Sensorineural hearing loss, Allele, Gene, GJB6
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::52708faf05e4440fe7ca83e03e82da4bTest
https://doi.org/10.1134/s1022795417050027Test -
93
المؤلفون: Georgii P. Romanov, V.G. Pshennikova, Igor Morozov, E. K. Khusnutdinova, Sardana A. Fedorova, Alexander Bondar, Lilya U. Dzhemileva, Olga L. Posukh, Aisen V. Solovyev, Mikhail I. Tomsky, E. E. Diakonov, N. N. Sazonov, Nikolay A. Barashkov
المصدر: Russian Journal of Genetics. 53:688-697
مصطلحات موضوعية: 0301 basic medicine, Genetics, Nonsynonymous substitution, Mutation, biology, Hearing loss, medicine.disease_cause, Molecular biology, Human genetics, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, otorhinolaryngologic diseases, medicine, biology.protein, Clinical significance, medicine.symptom, Synonymous substitution, Gene, 030217 neurology & neurosurgery, GJB6
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::a51adc992293d71eca361d4ef618c9d4Test
https://doi.org/10.1134/s1022795417030103Test -
94
المؤلفون: Henryk Skarżyński, Agnieszka Pollak
المصدر: Journal of Hearing Science. 7:33-40
مصطلحات موضوعية: medicine.medical_specialty, biology, business.industry, Hearing loss, Mutation (genetic algorithm), biology.protein, Medicine, Implant, medicine.symptom, Audiology, business, GJB6
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::c02f063f9013473d09f2a0fa2a7f4d97Test
https://doi.org/10.17430/903762Test -
95
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 -
96
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 -
97
المؤلفون: Jian-Hang Leng, Yu Ding, Bo-Hou Xia, Yao-Shu Teng, Guang-Chao Zhuo
المصدر: Current molecular medicine. 19(2)
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Nuclear gene, Hearing loss, Penetrance, Biology, Deafness, medicine.disease_cause, RNA, Transfer, His, Biochemistry, DNA, Mitochondrial, 03 medical and health sciences, 0302 clinical medicine, Asian People, medicine, Humans, Expressivity (genetics), Molecular Biology, Gene, Genetics, RNA, Transfer, Thr, Mutation, Base Sequence, General Medicine, Middle Aged, Mitochondria, Pedigree, 030104 developmental biology, Genes, Mitochondrial, Phenotype, 030220 oncology & carcinogenesis, biology.protein, Molecular Medicine, Female, medicine.symptom, GJB6, Human mitochondrial DNA haplogroup
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15f9518a68c5db821e71a381826f467dTest
https://pubmed.ncbi.nlm.nih.gov/30854964Test -
98
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 -
99
المؤلفون: Carlos Henrique Paiva Grangeiro, Simone da Costa e Silva Carvalho, Victor Evangelista de Faria Ferraz, Clarissa Gondim Picanço-Albuquerque, T. O. Anjos, Wilson A. Silva, Greice Andreotti de Molfetta
المصدر: BMC Research Notes, Vol 11, Iss 1, Pp 1-7 (2018)
BMC Research Notes
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USPمصطلحات موضوعية: Male, 0301 basic medicine, lcsh:Medicine, medicine.disease_cause, Connexins, Child, lcsh:QH301-705.5, Genetics, Mutation, General Medicine, Middle Aged, Connexin 26, Research Note, Sulfate Transporters, Child, Preschool, Cohort, Female, Sensorineural hearing loss, medicine.symptom, Brazil, GJB6, Adult, Mitochondrial DNA, Adolescent, Hearing loss, Hearing Loss, Sensorineural, MUTAÇÃO, Biology, Mutation screening, General Biochemistry, Genetics and Molecular Biology, Young Adult, 03 medical and health sciences, SLC26A4, otorhinolaryngologic diseases, medicine, Humans, DFNB4, Hearing Loss, lcsh:Science (General), Gene, Nonsyndromic hearing loss, lcsh:R, Membrane Transport Proteins, Promoter, medicine.disease, 030104 developmental biology, lcsh:Biology (General), biology.protein, lcsh:Q1-390
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ec3490ba65e594a036d339936ed4b64Test
https://doi.org/10.1186/s13104-018-3647-4Test -
100
المؤلفون: V. Dobriyanova
المصدر: International Bulletin of Otorhinolaryngology. 16:43
مصطلحات موضوعية: Mutation, Pediatrics, medicine.medical_specialty, biology, business.industry, medicine.disease, medicine.disease_cause, Biological materials, DNA sequencing, otorhinolaryngologic diseases, medicine, biology.protein, Effective treatment, Sensorineural hearing loss, In patient, Family history, business, GJB6
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::51614585b413c67b465e394de15fe35fTest
https://doi.org/10.14748/orl.v16i3.7258Test