1 resultado para CROWLING PEG
em Academic Archive On-line (Jönköping University
Filtro por publicador
- Academic Archive On-line (Jönköping University; Sweden) (1)
- Academic Research Repository at Institute of Developing Economies (1)
- Acceda, el repositorio institucional de la Universidad de Las Palmas de Gran Canaria. España (1)
- Adam Mickiewicz University Repository (1)
- AMS Tesi di Dottorato - Alm@DL - Università di Bologna (5)
- AMS Tesi di Laurea - Alm@DL - Università di Bologna (8)
- ArchiMeD - Elektronische Publikationen der Universität Mainz - Alemanha (19)
- Archive of European Integration (2)
- Archivo Digital para la Docencia y la Investigación - Repositorio Institucional de la Universidad del País Vasco (3)
- Aston University Research Archive (27)
- B-Digital - Universidade Fernando Pessoa - Portugal (1)
- Biblioteca de Teses e Dissertações da USP (2)
- Biblioteca Digital - Universidad Icesi - Colombia (1)
- Biblioteca Digital | Sistema Integrado de Documentación | UNCuyo - UNCUYO. UNIVERSIDAD NACIONAL DE CUYO. (1)
- Biblioteca Digital da Produção Intelectual da Universidade de São Paulo (20)
- Biblioteca Digital da Produção Intelectual da Universidade de São Paulo (BDPI/USP) (3)
- Biblioteca Digital de la Universidad Católica Argentina (1)
- Biblioteca Digital de Teses e Dissertações Eletrônicas da UERJ (3)
- Bioline International (3)
- BORIS: Bern Open Repository and Information System - Berna - Suiça (52)
- Brock University, Canada (2)
- Bucknell University Digital Commons - Pensilvania - USA (5)
- CaltechTHESIS (1)
- Cambridge University Engineering Department Publications Database (2)
- CentAUR: Central Archive University of Reading - UK (47)
- Chinese Academy of Sciences Institutional Repositories Grid Portal (172)
- Cochin University of Science & Technology (CUSAT), India (8)
- Coffee Science - Universidade Federal de Lavras (1)
- Comissão Econômica para a América Latina e o Caribe (CEPAL) (4)
- CORA - Cork Open Research Archive - University College Cork - Ireland (3)
- Corvinus Research Archive - The institutional repository for the Corvinus University of Budapest (2)
- Dalarna University College Electronic Archive (1)
- Deakin Research Online - Australia (38)
- Department of Computer Science E-Repository - King's College London, Strand, London (1)
- Digital Archives@Colby (1)
- Digital Commons - Michigan Tech (2)
- Digital Commons at Florida International University (3)
- DigitalCommons@The Texas Medical Center (6)
- DRUM (Digital Repository at the University of Maryland) (2)
- Duke University (4)
- FUNDAJ - Fundação Joaquim Nabuco (2)
- Glasgow Theses Service (1)
- Greenwich Academic Literature Archive - UK (1)
- Helda - Digital Repository of University of Helsinki (3)
- Indian Institute of Science - Bangalore - Índia (28)
- Institutional Repository of Leibniz University Hannover (2)
- INSTITUTO DE PESQUISAS ENERGÉTICAS E NUCLEARES (IPEN) - Repositório Digital da Produção Técnico Científica - BibliotecaTerezine Arantes Ferra (1)
- Lume - Repositório Digital da Universidade Federal do Rio Grande do Sul (3)
- Memoria Académica - FaHCE, UNLP - Argentina (3)
- Ministerio de Cultura, Spain (1)
- National Center for Biotechnology Information - NCBI (8)
- Nottingham eTheses (1)
- Publishing Network for Geoscientific & Environmental Data (5)
- QSpace: Queen's University - Canada (1)
- QUB Research Portal - Research Directory and Institutional Repository for Queen's University Belfast (61)
- Queensland University of Technology - ePrints Archive (30)
- ReCiL - Repositório Científico Lusófona - Grupo Lusófona, Portugal (1)
- Repositorio Académico de la Universidad Nacional de Costa Rica (2)
- Repositorio Academico Digital UANL (1)
- Repositório Alice (Acesso Livre à Informação Científica da Embrapa / Repository Open Access to Scientific Information from Embrapa) (1)
- Repositório Científico da Universidade de Évora - Portugal (4)
- Repositório Científico do Instituto Politécnico de Lisboa - Portugal (4)
- Repositorio de la Universidad de Cuenca (1)
- Repositório digital da Fundação Getúlio Vargas - FGV (4)
- Repositório Digital da UNIVERSIDADE DA MADEIRA - Portugal (2)
- Repositório Institucional da Universidade de Aveiro - Portugal (3)
- Repositório Institucional da Universidade Federal de Goiás - UFG (1)
- Repositório Institucional da Universidade Federal do Rio Grande - FURG (1)
- Repositorio Institucional de la Universidad Nacional Agraria (1)
- Repositório Institucional UNESP - Universidade Estadual Paulista "Julio de Mesquita Filho" (143)
- Repositorio Institucional Universidad EAFIT - Medelin - Colombia (1)
- Research Open Access Repository of the University of East London. (3)
- RUN (Repositório da Universidade Nova de Lisboa) - FCT (Faculdade de Cienecias e Technologia), Universidade Nova de Lisboa (UNL), Portugal (2)
- SAPIENTIA - Universidade do Algarve - Portugal (1)
- Savoirs UdeS : plateforme de diffusion de la production intellectuelle de l’Université de Sherbrooke - Canada (1)
- School of Medicine, Washington University, United States (1)
- Scielo España (1)
- Universidad de Alicante (5)
- Universidad del Rosario, Colombia (5)
- Universidad Politécnica de Madrid (4)
- Universidade Complutense de Madrid (1)
- Universidade de Lisboa - Repositório Aberto (2)
- Universidade Federal do Pará (4)
- Universidade Federal do Rio Grande do Norte (UFRN) (5)
- Universitat de Girona, Spain (4)
- Université de Lausanne, Switzerland (2)
- Université de Montréal (1)
- Université de Montréal, Canada (28)
- University of Connecticut - USA (14)
- University of Michigan (47)
- University of Queensland eSpace - Australia (7)
- University of Washington (2)
Resumo:
BACKGROUND: The WNT10A protein is critical for the development of ectodermal appendages. Variants in the WNT10A gene may be associated with a spectrum of ectodermal abnormalities including extensive tooth agenesis. METHODS: In seven patients with severe tooth agenesis we identified anomalies in primary dentition and additional ectodermal symptoms, and assessed WNT10A mutations by genetic analysis. RESULTS: Investigation of primary dentition revealed peg-shaped crowns of primary mandibular incisors and three individuals had agenesis of at least two primary teeth. The permanent dentition was severely affected in all individuals with a mean of 21 missing teeth. Primary teeth were most often present in positions were succedaneous teeth were missing. Furthermore, most existing molars had taurodontism. Light, brittle or coarse hair was reported in all seven individuals, hyperhidrosis of palms and soles in six individuals and nail anomalies in two individuals. The anomalies in primary dentition preceded most of the additional ectodermal symptoms. Genetic analysis revealed that all seven individuals were homozygous or compound heterozygous for WNT10A mutations resulting in C107X, E222X and F228I. CONCLUSIONS: We conclude that tooth agenesis and/or peg-shaped crowns of primary mandibular incisors, severe oligodontia of permanent dentition as well as ectodermal symptoms of varying severity may be predictors of bi-allelic WNT10A mutations of importance for diagnosis, counselling and follow-up.