-
1
المؤلفون: Hampapathalu A. Nagarajaram, Gandham SriLakshmi Bhavani, Prajnya Ranganath, Ashwin Dalal, Rekha Gupta, Sumita Danda, Aishwarya Gholse, Ajay K. Chaudhary, Murali D. Bashyam, Atanu Kumar Dutta, Hariharan V Sankar, Katta M. Girisha, Shubha Rao Phadke, Neerja Gupta
المصدر: American Journal of Medical Genetics Part A. 188:788-805
مصطلحات موضوعية: Furin, Genetics, Ectodermal Dysplasia 1, Anhidrotic, Transition (genetics), Limb Deformities, Congenital, Genetic disorder, Ectodysplasins, Biology, medicine.disease, Pedigree, Exon, Ectodermal Dysplasia, Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive, biology.protein, medicine, Humans, Missense mutation, Hypohidrotic ectodermal dysplasia, Global developmental delay, Transversion, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f2be50c8020ca4566606a5daa9f6d1dTest
https://doi.org/10.1002/ajmg.a.62579Test -
2
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 -
3
المؤلفون: Nobuyuki Asano, Shuichiro Yasuno, Ryota Hayashi, Yutaka Shimomura
المصدر: The Journal of Dermatology. 48:1533-1541
مصطلحات موضوعية: Hypohidrosis, Genetics, Ectodermal Dysplasia 1, Anhidrotic, EDARADD, Mutant, Limb Deformities, Congenital, Genetic disorder, Dermatology, General Medicine, Ectodysplasins, Biology, Edar-Associated Death Domain Protein, medicine.disease, Mutation, medicine, Humans, Missense mutation, Hypotrichosis, Hypohidrotic ectodermal dysplasia, EDARADD gene, Anodontia, Death domain
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f55d21f71369b04977ed0adf8dd758b9Test
https://doi.org/10.1111/1346-8138.16044Test -
4
المؤلفون: Nanette B. Silverberg
المصدر: Clinics in Dermatology. 38:462-466
مصطلحات موضوعية: Neurofibromatosis 1, Single-Gene Defects, Administration, Topical, Dermatology, Disease, Computational biology, Biology, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, Exome Sequencing, medicine, Humans, Gene, Exome sequencing, Gene Editing, 030203 arthritis & rheumatology, Ectodermal Dysplasia 1, Anhidrotic, Anticholesteremic Agents, Genodermatosis, Skin Diseases, Genetic, medicine.disease, Compendium, Ustekinumab, Human genome, Epidermolysis Bullosa, Signal Transduction
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e25387c277913e9624902e5dc553d2eTest
https://doi.org/10.1016/j.clindermatol.2020.03.006Test -
5
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 -
6
المؤلفون: Tomoko Okita, Nobuyuki Asano, Yutaka Shimomura, Shuichiro Yasuno
المصدر: The Journal of Dermatology. 46:710-715
مصطلحات موضوعية: Dermatology, Biology, Gene mutation, Edar-Associated Death Domain Protein, medicine.disease_cause, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, stomatognathic system, medicine, Humans, Ectodysplasin A receptor, Hypohidrotic ectodermal dysplasia, Genes, Dominant, Genetics, Mutation, Ectodermal Dysplasia 1, Anhidrotic, EDARADD, integumentary system, Edar Receptor, Genetic disorder, General Medicine, medicine.disease, HEK293 Cells, 030220 oncology & carcinogenesis, Hypotrichosis, Ectodysplasin A
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21aba5608449a03ebe902cc7f7ae094eTest
https://doi.org/10.1111/1346-8138.14983Test -
7
المصدر: Animal Genetics. 49:651-654
مصطلحات موضوعية: Male, 0301 basic medicine, X Chromosome, 040301 veterinary sciences, Dachshund, Breeding, Biology, Frameshift mutation, 0403 veterinary science, 03 medical and health sciences, symbols.namesake, Dogs, Genetics, medicine, Animals, Dog Diseases, Hypohidrotic ectodermal dysplasia, Frameshift Mutation, Gene, X chromosome, 2. Zero hunger, Sanger sequencing, Ectodermal Dysplasia 1, Anhidrotic, 04 agricultural and veterinary sciences, General Medicine, Ectodysplasins, medicine.disease, 030104 developmental biology, Codon, Nonsense, symbols, Female, Animal Science and Zoology, Ectodysplasin A, Candidate Gene Analysis
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2fdf1ef0afed742889dafb71da6853eTest
https://doi.org/10.1111/age.12729Test -
8
المؤلفون: María Teresa Martínez-Menchon, Guillermo Glover-López, E. Guillén-Navarro, María José Sánchez-Soler, María Barreda-Sánchez, Lidya Rodriguez-Peña, Maria del Carmen Martínez-Romero, María Juliana Ballesta-Martínez, Vanesa López-González, Paloma Sánchez-Pedreño, Ana Teresa Serrano-Antón, J.F. Frias-Iniesta, Pablo Carbonell-Meseguer
المصدر: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-10 (2019)
Orphanet Journal of Rare Diseasesمصطلحات موضوعية: Adult, Male, Adolescent, DNA Copy Number Variations, lcsh:Medicine, Biology, Edar-Associated Death Domain Protein, Non-syndromic tooth agenesis, Young Adult, symbols.namesake, Ectodermal Dysplasia, Ectodermal derivative impairment, hypohidrotic ectodermal dysplasia, medicine, Humans, Pharmacology (medical), Hypohidrotic ectodermal dysplasia, Multiplex ligation-dependent probe amplification, Allele, Child, Gene, Genetics (clinical), Anodontia, Genetics, Sanger sequencing, Ectodermal Dysplasia 1, Anhidrotic, EDARADD, Edar Receptor, Research, Hypodontia, lcsh:R, Infant, Newborn, Infant, Exons, General Medicine, Middle Aged, EDAR, medicine.disease, Introns, Human genetics, Wnt Proteins, WNT10A, Spain, Child, Preschool, symbols, Female, Ectodysplasin A, EDA
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c243be7260d6602d520dfebd84b42ca9Test
https://doi.org/10.1186/s13023-019-1251-xTest -
9
المؤلفون: Céline Dupont, Isabelle Bailleul-Forestier, Anne-Claude Tabet, Joris Vermeesch, Yline Capri, Alain Verloes, Myriam Rachid, Jonathan Levy, Koen Devriendt
المصدر: Clinical geneticsREFERENCES. 97(4)
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Ectodermal dysplasia, animal structures, Lymphoid Enhancer-Binding Factor 1, Mesenchyme, Ectoderm, Oligodontia, Haploinsufficiency, 030105 genetics & heredity, Biology, 03 medical and health sciences, Mice, Young Adult, Ectodermal Dysplasia, Genetics, medicine, Animals, Humans, Hypohidrotic ectodermal dysplasia, Genetics (clinical), beta Catenin, Ectodermal Dysplasia 1, Anhidrotic, Wnt signaling pathway, NF-kappa B, medicine.disease, 030104 developmental biology, medicine.anatomical_structure, Child, Preschool, embryonic structures, Cancer research, Hypotrichosis, Female, Signal Transduction
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b7d6fbf3eb0349345609d4aa8c0e715Test
https://pubmed.ncbi.nlm.nih.gov/32022899Test -
10
المؤلفون: Gordon G. Liu, Man Qin, Xiaopei Wang, Jingshuai Zhu, Liuquan Sun
المصدر: Oral Diseases. 24:1101-1106
مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Adolescent, Mutant, Gene mutation, Biology, 03 medical and health sciences, Exon, Molecular genetics, medicine, Humans, Hypohidrotic ectodermal dysplasia, General Dentistry, Genetics, Ectodermal Dysplasia 1, Anhidrotic, Ectodysplasins, medicine.disease, Pedigree, 030104 developmental biology, Otorhinolaryngology, Child, Preschool, Mutation, RNA splicing, Mutation (genetic algorithm), Female, Ectodysplasin A, RNA Splice Sites
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b939fb4739ff0a47af0ff8db93c0a244Test
https://doi.org/10.1111/odi.12874Test