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1دورية أكاديمية
المؤلفون: WANG Huihui, WU Qing, XU Bin, LING Qi, WU Yiqun
المصدر: 口腔疾病防治, Vol 31, Iss 11, Pp 768-773 (2023)
مصطلحات موضوعية: ectodysplasin a gene, non-syndromic tooth agenesis, syndromic tooth agenesis, hypodontia, oligodontia, whole exome sequencing, sanger sequencing, genomic dna, gene mutation, missense mutation, Medicine
وصف الملف: electronic resource
العلاقة: https://www.kqjbfz.com/CN/10.12016/j.issn.2096-1456.2023.11.002Test; https://doaj.org/toc/2096-1456Test
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2دورية أكاديمية
المؤلفون: Sina Reinartz, Christine Weiß, Maike Heppelmann, Marion Hewicker-Trautwein, Maren Hellige, Laure Willen, Karsten Feige, Pascal Schneider, Ottmar Distl
المصدر: Genes, Vol 15, Iss 1, p 8 (2023)
مصطلحات موضوعية: ectodysplasin A, Fleckvieh, missense mutation, collagen triple helix repeat domain, Genetics, QH426-470
وصف الملف: electronic resource
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المؤلفون: Prashant Ranjan, Parimal Das
المصدر: Journal of Cellular Biochemistry. 123:431-449
مصطلحات موضوعية: Ectodermal Dysplasia 1, Anhidrotic, In silico, Point mutation, Mutant, Mutation, Missense, Computational Biology, Cell Biology, Computational biology, Ectodysplasins, Biology, medicine.disease, Biochemistry, Phenotype, Molecular Docking Simulation, Structure-Activity Relationship, Amino Acid Substitution, medicine, Humans, Missense mutation, Ectodysplasin A, Hypohidrotic ectodermal dysplasia, Molecular Biology, Function (biology)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72964c5da4046256757885d68c1c99dbTest
https://doi.org/10.1002/jcb.30186Test -
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المؤلفون: Mario Tumminello, Melania Guardino, Federico Matina, Giovanni Corsello, Bianca Lea Giuffrè, Antonella Gangemi
المساهمون: Mario Tumminello, Antonella Gangemi, Federico Matina, Melania Guardino, Bianca Lea Giuffrè, Giovanni Corsello
المصدر: Italian Journal of Pediatrics, Vol 47, Iss 1, Pp 1-5 (2021)
Italian Journal of Pediatricsمصطلحات موضوعية: Male, 0301 basic medicine, Proband, Mutation, Missense, Variants of uncertain significance (VUS), Case Report, X-linked, 030105 genetics & heredity, Pediatrics, RJ1-570, 03 medical and health sciences, EDA gene, Humans, Medicine, Missense mutation, Hypohidrotic ectodermal dysplasia, X chromosome, Hemizygote, Genetics, Chromosomes, Human, X, Ectodermal Dysplasia 1, Anhidrotic, business.industry, Infant, Newborn, Genetic disorder, General Medicine, Ectodysplasins, medicine.disease, Hypoidrotic ectodermal dysplasia, Hypodontia, 030104 developmental biology, Hypotrichosis, Ectodysplasin A, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a95e33c2770c285f65c0fbd75b251e0dTest
https://doaj.org/article/5c628d673df94e2782be94377f8724ccTest -
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المؤلفون: Yiqun Wu, Cai-Ling Jiang, Yu Kang, Wei Huang, Yihan Shen, Feng Wang
المصدر: Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 9, Iss 11, Pp n/a-n/a (2021)مصطلحات موضوعية: Prenatal diagnosis, QH426-470, Biology, Gene mutation, hypohidrotic ectodermal dysplasia, medicine.disease_cause, whole exome sequencing, symbols.namesake, Pregnancy, Genetics, medicine, Humans, Missense mutation, Hypohidrotic ectodermal dysplasia, Molecular Biology, Genetics (clinical), Exome sequencing, Sanger sequencing, Mutation, Ectodermal Dysplasia 1, Anhidrotic, prenatal diagnosis, Original Articles, Ectodysplasins, medicine.disease, Molecular biology, Pedigree, ectodysplasin A, symbols, Female, Original Article, Ectodysplasin A, novel mutation
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5cc62a35f670c66240c23f674c3b7f9Test
https://doi.org/10.1002/mgg3.1824Test -
6دورية أكاديمية
المساهمون: Department of Oral and Maxillofacial Diseases, Suu- ja leukakirurgian yksikkö
مصطلحات موضوعية: HYPOHIDROTIC ECTODERMAL DYSPLASIA, HAIR FOLLICLE INDUCTION, ECTODYSPLASIN-A, NONSENSE MUTATION, MISSENSE MUTATION, PERMANENT TEETH, DENTAL AGENESIS, PAX9 GENE, OLIGODONTIA, HYPODONTIA, 313 Dentistry, 1184 Genetics, developmental biology, physiology
وصف الملف: application/pdf
العلاقة: Funding provided by Helsinki University Central Hospital EVO grants TYH-2010301 and TYH-2012201, www.hus.fi and Finnish Dental Society Apollonia, www.apollonia.fi. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.; Arte , S , Parmanen , S , Pirinen , S , Alaluusua , S & Nieminen , P T 2013 , ' Candidate Gene Analysis of Tooth Agenesis Identifies Novel Mutations in Six Genes and Suggests Significant Role for WNT and EDA Signaling and Allele Combinations ' , PLoS One , vol. 8 , no. 8 , pp. Article Number: e73705 . https://doi.org/10.1371/journal.pone.0073705Test; 84882808842; 057967e1-f0e0-4fa7-9d3e-7af5ea08913e; http://hdl.handle.net/10138/164341Test; 000324470700065
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المؤلفون: Wenjing Shen, Chunyan Liu, Xuanting Kong, Ye Liu, Hongyu Zhang, Lingqiang Meng, Guozhong Zhang, Yan Hou, Jiabao Ren, Qingqing Du, Shuo Yuan
المصدر: Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 9, Iss 6, Pp n/a-n/a (2021)مصطلحات موضوعية: 0301 basic medicine, Proband, Male, non‐syndromic tooth agenesis, Mutation, Missense, QH426-470, 030105 genetics & heredity, Biology, Gene mutation, medicine.disease_cause, 03 medical and health sciences, symbols.namesake, stomatognathic system, EDA gene, Genetics, medicine, Missense mutation, Humans, Molecular Biology, Genetics (clinical), Exome sequencing, Anodontia, Sanger sequencing, Mutation, EDARADD, Whole Genome Sequencing, Edar Receptor, Original Articles, Ectodysplasins, missense variant, Pedigree, 030104 developmental biology, Phenotype, symbols, EDAR gene, Ectodysplasin A, Original Article, Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54324856a1c9ab721b459dbdcdfaa0d2Test
http://europepmc.org/articles/PMC8222839Test -
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المؤلفون: Yang Han, Xiuli Wang, Liyun Zheng, Tingting Zhu, Yuwei Li, Jiaqi Hong, Congcong Xu, Peiguang Wang, Min Gao
المصدر: Frontiers in Genetics, Vol 11 (2020)
مصطلحات موضوعية: 0301 basic medicine, Sanger sequencing, lcsh:QH426-470, Gene mutation, Biology, medicine.disease_cause, hypohidrotic ectodermal dysplasia, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Genetics, medicine, Missense mutation, Hypohidrotic ectodermal dysplasia, whole-exome sequencing, gene mutation, Genetics (clinical), Exome sequencing, Mutation, EDARADD, ectodysplasin A gene, medicine.disease, lcsh:Genetics, 030104 developmental biology, 030220 oncology & carcinogenesis, symbols, Molecular Medicine, Ectodysplasin A
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e53952c8813ed2f3bada5edd489cccfTest
https://www.frontiersin.org/article/10.3389/fgene.2020.00021/fullTest -
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المؤلفون: Jong Hee Chae, Ji S. Park, Jung M. Ko
المصدر: Cytogenetic and Genome Research. 158:1-9
مصطلحات موضوعية: 0303 health sciences, Ectodermal dysplasia, medicine.medical_specialty, Genetic counseling, Biology, medicine.disease, Dermatology, 030207 dermatology & venereal diseases, 03 medical and health sciences, Hypodontia, 0302 clinical medicine, Genetics, medicine, Missense mutation, Hypotrichosis, Ectodysplasin A, Hypohidrotic ectodermal dysplasia, Family history, Molecular Biology, Genetics (clinical), 030304 developmental biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::605aa22abd8db89a7ee2759d18b5478dTest
https://doi.org/10.1159/000500214Test -
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المؤلفون: Jia Nee Foo, Ghazanfar Ali, Musharraf Jelani, Chiea Chuen Khor
المساهمون: Lee Kong Chian School of Medicine (LKCMedicine), Genome Institute of Singapore, A*STAR
المصدر: The journal of gene medicineREFERENCES. 21(9)
مصطلحات موضوعية: 0301 basic medicine, Male, Genotype, Genetic counseling, Mutation, Missense, Genes, Recessive, Biology, 03 medical and health sciences, Consanguinity, 0302 clinical medicine, stomatognathic system, Gene Frequency, Drug Discovery, Exome Sequencing, Genetics, medicine, Missense mutation, Ectodysplasin A receptor, Humans, Medicine [Science], Hypohidrotic ectodermal dysplasia, Molecular Biology, Genetics (clinical), Alleles, EDARADD, Ectodermal Dysplasia 1, Anhidrotic, integumentary system, Edar Receptor, medicine.disease, Hypohidrotic Ectodermal Dysplasia, Pedigree, Minor allele frequency, 030104 developmental biology, Phenotype, 030220 oncology & carcinogenesis, Molecular Medicine, Ectodysplasin A, Female, Ectodysplasin A Receptor, Congenital disorder
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b95a7301c854736a2164d951c0e546cfTest
https://pubmed.ncbi.nlm.nih.gov/31310406Test