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

الوصول الحر: https://doaj.org/article/44f82fe1e772488ba51dc79262c575e4Test

المؤلفون: O’Toole, Donal, Häfliger, Irene M, Leuthard, Fabienne, Schumaker, Brant, Steadman, Lynn, Murphy, Brian, Drögemüller, Cord, Leeb, Tosso

المصدر: Animals. 11(3)

مصطلحات موضوعية: Veterinary Sciences, Agricultural, Veterinary and Food Sciences, Animal Production, Dental/Oral and Craniofacial Disease, Genetics, Bos taurus, cattle, ectodysplasin, hypodontia, hypotrichosis, oligodontia, whole genome sequencing, development, dermatology, genodermatosis, Environmental Science and Management, Zoology, Animal production, Veterinary sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/16s2228sTest

المؤلفون: Hoda A. Ahmed, Ghada Y. El-Kamah, Eman Rabie, Mostafa I. Mostafa, Maha R. Abouzaid, Nehal F. Hassib, Mennat I. Mehrez, Mohamed A. Abdel-Kader, Yasmine H. Mohsen, Suher K. Zada, Khalda S. Amr, Inas S. M. Sayed

المصدر: Genes; Volume 12; Issue 9; Pages: 1389

مصطلحات موضوعية: ectodysplasin A, ectodermal eysplasia, EDA, EDAR, EDARADD, WNT10A, hypohidrotic ectodermal eysplasia, oligodontia, hypodontia

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes12091389Test

الإتاحة: https://doi.org/10.3390/genes12091389Test

المؤلفون: Donal O’Toole, Irene M. Häfliger, Fabienne Leuthard, Brant Schumaker, Lynn Steadman, Brian Murphy, Cord Drögemüller, Tosso Leeb

المصدر: Animals; Volume 11; Issue 3; Pages: 657

مصطلحات موضوعية: Bos taurus, cattle, ectodysplasin, hypodontia, hypotrichosis, oligodontia, whole genome sequencing, development, dermatology, genodermatosis

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Animal Genetics and Genomics; https://dx.doi.org/10.3390/ani11030657Test

الإتاحة: https://doi.org/10.3390/ani11030657Test

المؤلفون: Rabie, Eman AbdelAlim

المصدر: Theses and Dissertations

مصطلحات موضوعية: ectodysplasin, ectodermal dysplasia, EDA, EDAR, EDARADD, TSPEAR, hypohidrotic ectodermal dysplasia, oligodontia, hypodontia, tooth agenesis, Genetics of North Africa, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Genetics and Genomics, Medical Genetics, Molecular Genetics, Skin and Connective Tissue Diseases

وصف الملف: application/pdf

العلاقة: https://fount.aucegypt.edu/etds/2039Test; https://fount.aucegypt.edu/context/etds/article/3071/viewcontent/eman_abdelalim_rabie_thesis.pdfTest

الإتاحة: https://fount.aucegypt.edu/etds/2039Test
https://fount.aucegypt.edu/context/etds/article/3071/viewcontent/eman_abdelalim_rabie_thesis.pdfTest

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 Pediatrics

مصطلحات 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

المؤلفون: Maha Rashed Abouzaid, Nehal F. Hassib, Hoda Abdalla Ahmed, Mohamed Ahmed Abdel‐Kader, Mostafa I. Mostafa, Mennat I Mehrez, Ghada El-Kamah, Suher Zada, Inas S. M. Sayed, Khalda Amr, Yasmine H. Mohsen, Eman Rabie

المصدر: Genes
Volume 12
Issue 9
Genes, Vol 12, Iss 1389, p 1389 (2021)

مصطلحات موضوعية: Adult, Male, Ectodermal dysplasia, Heterozygote, EDARADD, QH426-470, Gene mutation, Biology, hypohidrotic ectodermal eysplasia, Edar-Associated Death Domain Protein, Article, Genotype-phenotype distinction, Ectodermal Dysplasia, Genetics, medicine, Humans, oligodontia, Child, Genetics (clinical), Exome sequencing, Genetic heterogeneity, Edar Receptor, EDAR, WNT10A, Infant, ectodermal eysplasia, Ectodysplasins, Middle Aged, medicine.disease, Wnt Proteins, EDA, Child, Preschool, Mutation, ectodysplasin A, hypodontia, Hypotrichosis, Ectodysplasin A, Egypt, Female

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5ba72ef3a5b4aa11737c3a1daf3bd49Test

المؤلفون: William Murray Thomson, Azza H. Al‐Ani, Tony R. Merriman, Ruth Topless, Mauro Farella, Joseph S Antoun

المساهمون: Al-Ani, A. H., Antoun, J. S., Thomson, W. M., Topless, R., Merriman, T. R., Farella, M.

المصدر: Orthodontics & Craniofacial Research. 24:155-163

مصطلحات موضوعية: single nucleotide, medicine.medical_specialty, Candidate gene, Adolescent, Orthodontics, polymorphism, 03 medical and health sciences, 0302 clinical medicine, Polymorphism (computer science), Internal medicine, medicine, AXIN2, Humans, 030212 general & internal medicine, Odontogenesi, Anodontia, business.industry, Case-control study, DNA, 030206 dentistry, Odds ratio, Ectodysplasins, medicine.disease, stomatognathic diseases, Hypodontia, Otorhinolaryngology, Case-Control Studies, hypodontia, Odontogenesis, Female, Surgery, Ectodysplasin A, genetic, Oral Surgery, Case-Control Studie, business, PAX9, Human

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4aa4295eb7a482e9fb1acfcd6eee945cTest
https://doi.org/10.1111/ocr.12419Test

المؤلفون: Arte, Sirpa, Parmanen, Satu, Pirinen, Sinikka, Alaluusua, Satu, Nieminen, Pekka Tapani

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

الإتاحة: http://hdl.handle.net/10138/164341Test

المؤلفون: Ahmed, Hoda A., El-Kamah, Ghada Y., Rabie, Eman, Mostafa, Mostafa I., Abouzaid, Maha R., Hassib, Nehal F., Mehrez, Mennat I., Abdel-Kader, Mohamed A., Mohsen, Yasmine H., Zada, Suher K., Amr, Khalda S., Sayed, Inas S.M.

المصدر: Faculty Journal Articles

مصطلحات موضوعية: Ectodermal eysplasia, Ectodysplasin A, EDA, EDAR, EDARADD, Hypodontia, Hypohidrotic ectodermal eysplasia, Oligodontia, WNT10A

العلاقة: https://fount.aucegypt.edu/faculty_journal_articles/2418Test

الإتاحة: https://doi.org/10.3390/genes12091389Test
https://fount.aucegypt.edu/faculty_journal_articles/2418Test