المؤلفون: Jones, Kyle B, Goodwin, Alice F, Landan, Maya, Seidel, Kerstin, Tran, Dong‐Kha, Hogue, Jacob, Chavez, Miquella, Fete, Mary, Yu, Wenli, Hussein, Tarek, Johnson, Ramsey, Huttner, Kenneth, Jheon, Andrew H, Klein, Ophir D

المصدر: American Journal of Medical Genetics Part A. 161(7)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Dentistry, Congenital Structural Anomalies, Genetics, Pediatric, Adolescent, Adult, Case-Control Studies, Child, Dermatology, Ectodermal Dysplasia 1, Anhidrotic, Ectodysplasins, Hair, Humans, Iontophoresis, Male, Microscopy, Confocal, Phenotype, Pilocarpine, Reproducibility of Results, Surveys and Questionnaires, Sweat Glands, Young Adult, X-linked hypohidrotic ectodermal dysplasia, ectodysplasin, hair, sweat gland, terminal hair, confocal imaging, pilocarpine iontophoresis, phototrichogram, Clinical Sciences, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/66q517jdTest

المؤلفون: Marja L. Mikkola

المصدر: American Journal of Medical Genetics Part A. :2031-2036

مصطلحات موضوعية: Ectodermal dysplasia, Oligodontia, Biology, Edar-Associated Death Domain Protein, medicine.disease_cause, Mice, 03 medical and health sciences, 0302 clinical medicine, Ectodermal Dysplasia, Genetics, medicine, Animals, Humans, Ectodysplasin A receptor, Hypohidrotic ectodermal dysplasia, Transcription factor, Genetics (clinical), 030304 developmental biology, Hypohidrosis, 0303 health sciences, Mutation, EDARADD, Edar Receptor, NF-kappa B, Ectodysplasins, medicine.disease, 3. Good health, Disease Models, Animal, Gene Expression Regulation, Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive, 030220 oncology & carcinogenesis, Ectodysplasin A

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a31dcee7f634c93238afab7ef1922a21Test
https://doi.org/10.1002/ajmg.a.32855Test

المؤلفون: Andrew H. Jheon, Kenneth M. Huttner, Maya Landan, Ophir D. Klein, Jacob Hogue, Alice F. Goodwin, Wenli Yu, Ramsey Johnson, Dong-Kha Tran, Mary Fete, Tarek Hussein, Miquella G. Chavez, Kyle B. Jones, Kerstin Seidel

المصدر: American journal of medical genetics. Part A, vol 161A, iss 7

مصطلحات موضوعية: Male, Pathology, Ectodermal dysplasia, terminal hair, Terminal hair, SWEAT, pilocarpine iontophoresis, Surveys and Questionnaires, Child, Genetics (clinical), ectodysplasin, Pediatric, Microscopy, Microscopy, Confocal, integumentary system, Pilocarpine, Anatomy, Ectodysplasins, Iontophoresis, Phenotype, medicine.anatomical_structure, Anhidrotic, Confocal, Ectodermal Dysplasia 1, medicine.drug, Adult, medicine.medical_specialty, Adolescent, Clinical Sciences, Dermatology, Biology, confocal imaging, sweat gland, Article, Young Adult, phototrichogram, Sweat gland, Genetics, medicine, X-linked hypohidrotic ectodermal dysplasia, Humans, Hypohidrotic ectodermal dysplasia, Ectodermal Dysplasia 1, Anhidrotic, Reproducibility of Results, hair, medicine.disease, Sweat Glands, Case-Control Studies, Congenital Structural Anomalies, Hair

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0969bba469146c916b9f8901945bbed8Test
https://doi.org/10.1002/ajmg.a.35959Test

المؤلفون: Encarna Guillén-Navarro, Sabine Sigaudy, Christine Coubes, Ghislaine Plessis, Dominique Martin-Coignard, Marc Abramowicz, Philippe Jonveaux, Catherine Vincent-Delorme, Frédéric Vaysse, Isabelle Bailleul-Forestier, Estelle Colin, V. Gaston, Nicolas Chassaing, Didier Lacombe, Bénédicte Demeer, Muriel Holder-Espinasse, Patrick Calvas, Julie Plaisancié, Hélène Dollfus, Eric Bieth, Alain Verloes, Laurence Faivre

المصدر: American Journal of Medical Genetics Part A. 161:671-678

مصطلحات موضوعية: Male, Ectodermal dysplasia, Genotype, Molecular Sequence Data, medicine.disease_cause, Compound heterozygosity, Ectodermal Dysplasia, Genetics, medicine, Humans, Amino Acid Sequence, Hypohidrotic ectodermal dysplasia, Genetic Association Studies, Genetics (clinical), Anodontia, Mutation, EDARADD, Edar Receptor, Genetic heterogeneity, business.industry, medicine.disease, Wnt Proteins, Hypodontia, Phenotype, Female, Ectodysplasin A, business, Sequence Alignment

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81ca893150bed34805c51cd519f873dbTest
https://doi.org/10.1002/ajmg.a.35747Test

المؤلفون: Derek Ruths, Maranke I. Koster, Virginia P. Sybert, Vivian A. Lombillo, Dennis R. Roop, Edward A. Ratovitski, Caterina Missero, Laura D. Attardi, Frank McKeon, Suzanne E. Clements, Meena R. Julapalli, Alanna F. Bree, Hans vanBokhoven, Elaine C. Siegfried, Mary Fete

المساهمون: Mary, Fete, Hans, Vanbokhoven, Suzanne E., Clement, Frank, Mckeon, Dennis R., Roop, Maranke I., Koster, Missero, Caterina, Laura D., Attardi, Vivian A., Lombillo, Edward, Ratovitski, Meena, Julapalli, Derek, Ruth, Virginia P., Sybert, Elaine C., Siegfried, Alanna F., Bree

المصدر: American Journal of Medical Genetics Part A. :1885-1893

مصطلحات موضوعية: International research, medicine.medical_specialty, Ectodermal dysplasia, Cleft lip palate, business.industry, education, Ankyloblepharon, Tp63 gene, Anatomy, medicine.disease, Dermatology, TP63, Genetics, medicine, Ectodysplasin A receptor, Facial development, business, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0aba00720b8acacafd7e7ad964d9cb0Test
https://doi.org/10.1002/ajmg.a.32761Test