-
1
المؤلفون: Jonsson, Lina, 1982, Magnusson, T. E., Thordarson, A., Jonsson, T., Geller, F., Feenstra, B., Melbye, M., Nohr, E. A., Vucic, S., Dhamo, B., Rivadeneira, F., Ongkosuwito, E. M., Wolvius, E. B., Leslie, E. J., Marazita, M. L., Howe, B. J., Uribe, L. M. M., Alonso, I., Santos, M., Pinho, T., Jonsson, R., Audolfsson, G., Gudmundsson, L., Nawaz, M. S., Olafsson, S., Gustafsson, O., Ingason, A., Unnsteinsdottir, U., Bjornsdottir, G., Walters, G. B., Zervas, M., Oddsson, A., Gudbjartsson, D. F., Steinberg, S., Stefansson, H., Stefansson, K.
المصدر: Journal of Dental Research. 97(5):515-522
مصطلحات موضوعية: Dentistry, Odontologi, Medical Genetics, Medicinsk genetik, genetics, molecular genetics, hypodontia, oligodontia, orofacial cleft(s), odontogenesis, genome-wide association, 3rd molar agenesis, ectodermal dysplasia, lateral incisor, permanent teeth, ectodysplasin-a, cleft-lip, prevalence, mutation, metaanalysis
الوصول الحر: https://gup.ub.gu.se/publication/268397Test
-
2
المؤلفون: Ariane Berdal, S Toupenay, Valérie Cormier-Daire, M de La Dure-Molla, Smail Hadj-Rabia, Benjamin Fournier, Amélie E. Coudert, Stéphane Kerner, M H Bruneau
المصدر: Journal of Dental Research. 97:1306-1316
مصطلحات موضوعية: 0301 basic medicine, EDARADD, Genotype, business.industry, Syndrome, Oligodontia, Gene mutation, medicine.disease, Bioinformatics, Anodontia, stomatognathic diseases, 03 medical and health sciences, Hypodontia, Phenotype, 030104 developmental biology, stomatognathic system, Agenesis, Mutation, medicine, Humans, Ectodysplasin A, business, General Dentistry, PAX9
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d56454bc22b75b522251e1d0e3e08ccTest
https://doi.org/10.1177/0022034518777460Test -
3
المؤلفون: Mengdie Wang, P. Zhu, Z. Tang, Lan Luo, W. Li, Y. Yang, Brian Z. Ring, Li Su, K. Cheng, Shiyong Liu, W. Xue, J. Wang, J. Xu
المصدر: Journal of Dental Research. 92:500-506
مصطلحات موضوعية: Male, Cuspid, Guanine, Adolescent, Mutation, Missense, Homology (biology), Ectodermal Dysplasia, Leucine, Serine, medicine, Humans, Missense mutation, Homology modeling, Hypohidrotic ectodermal dysplasia, Isoleucine, General Dentistry, Gene, Conserved Sequence, Anodontia, MSX1 Transcription Factor, Genetics, Sequence Homology, Amino Acid, Chemistry, Valine, Exons, Ectodysplasins, medicine.disease, Phenotype, Pedigree, Incisor, Hypodontia, Structural Homology, Protein, Tumor Necrosis Factors, Female, Ectodysplasin A, PAX9 Transcription Factor, Thymine
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7b3427f92d3696d10fc13674376738bTest
https://doi.org/10.1177/0022034513487557Test -
4
المؤلفون: Hailan Feng, Shujuan Song, H. Wu, Dong Han, Y. Gong, Xinxin Zhang, H. Qu, N. Zhong
المصدر: Journal of Dental Research. 88:126-131
مصطلحات موضوعية: Male, Genetics, Mutation, EDARADD, DNA Mutational Analysis, Mutation, Missense, Genetic Diseases, X-Linked, Research Reports, Oligodontia, Ectodysplasins, Biology, medicine.disease, medicine.disease_cause, Anodontia, Hypodontia, Amino Acid Substitution, medicine, Humans, Ectodysplasin A, Hypohidrotic ectodermal dysplasia, General Dentistry
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b97f89a188b56253010ef4b9a636278cTest
https://doi.org/10.1177/0022034508328627Test -
5
المؤلفون: Kaarel Krjutškov, Mare Saag, Maido Remm, M. Eelmets, Alexander Hoischen, Christian Gilissen, Triin Jagomägi, Reedik Mägi, Tiit Nikopensius, Mart Kals, U. Gerst-Talas, Tarmo Annilo, Andres Metspalu
المصدر: Journal of Dental Research
مصطلحات موضوعية: Male, Heterozygote, Guanine, Receptors, Ectodysplasin, Glutamine, Nonsense mutation, Gene Expression, Biology, Polymorphism, Single Nucleotide, X-inactivation, 03 medical and health sciences, 0302 clinical medicine, INDEL Mutation, Sequence Analysis, Protein, X Chromosome Inactivation, medicine, Humans, Missense mutation, Exome, Hypohidrotic ectodermal dysplasia, Allele, General Dentistry, Alleles, Conserved Sequence, Exome sequencing, Anodontia, 030304 developmental biology, Genetics, 0303 health sciences, Chromosome Mapping, Genetic Variation, 030206 dentistry, Ectodysplasins, medicine.disease, Phenotype, Codon, Nonsense, Structural Homology, Protein, Tumor Necrosis Factors, Odontogenesis, Female, Ectodysplasin A, Sequence Analysis, Thymine, Signal Transduction
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aae3559e91a8615be6f744762d36ecdaTest
-
6
المؤلفون: K.-E. Lee, Teo-Jeon Shin, Sook-Kyung Lee, Juyeon Ko, JongWon Kim, Hong-Keun Hyun
المصدر: Journal of dental research. 93(4)
مصطلحات موضوعية: Male, Ectodermal dysplasia, Guanine, Phenylalanine, Mutation, Missense, Oligodontia, Biology, Arginine, Gene Frequency, Leucine, medicine, AXIN2, Humans, Exome, Hypohidrotic ectodermal dysplasia, Child, Codon, General Dentistry, Gene, Conserved Sequence, Anodontia, Genetics, Genetic Variation, Genetic Diseases, X-Linked, Valine, Ectodysplasins, medicine.disease, Pedigree, Hypodontia, Child, Preschool, Ectodysplasin A, PAX9, Thymine, Hair, Signal Transduction
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b9ceadb96e0917b8b7eb383c33d58fdTest
https://pubmed.ncbi.nlm.nih.gov/24487376Test -
7
المؤلفون: Etienne Waltmann, Matthieu Schmittbuhl, Christine Bodemer, Marie-Cécile Manière, Hervé Lesot, F Clauss, Smail Hadj-Rabia, Y. Alembik, Frédéric Obry
المصدر: Journal of dental research. 87(12)
مصطلحات موضوعية: Genetics, Tooth Abnormalities, Genetic counseling, NF-kappa B, Oligodontia, Biology, Ectodysplasins, medicine.disease, Phenotype, Craniofacial Abnormalities, Ectodermal Dysplasia, Agenesis, Mutation, medicine, Homeobox, Humans, Ectodysplasin A, Hypohidrotic ectodermal dysplasia, Craniofacial, General Dentistry
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc65d25e8480ba41ca80a52b8071ed26Test
https://pubmed.ncbi.nlm.nih.gov/19029074Test