Results 51 to 60 of about 168,874 (283)

Self-Assessment of Oral Health-Related Quality of Life in People with Ectodermal Dysplasia in Germany

International Journal of Environmental Research and Public Health, 2019
Background: Ectodermal dysplasia describes a heterogeneous group of hereditary, congenital malformations involving developmental dystrophies of ectodermal structures.
M. Hanisch, S. Sielker, Susanne Jung, J. Kleinheinz, Lauren Bohner   +4 more
semanticscholar   +1 more source

Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances [PDF]

, 2013
Twin and family studies indicate that the timing of primary tooth eruption is highly heritable, with estimates typically exceeding 80%. To identify variants involved in primary tooth eruption we performed a population based genome-wide association study ...
Alexei I. Zhurov, Anja Taanila, Anneli Pouta, Arshed M. Toma, Bakrania, Bayés de Luna, Beate St Pourcain, Bei, Bjarke Feenstra, Clive J. Hoggart, Cole, Cornelis, David M. Evans, Demetris Pillas, Di Cello, Eleftherohorinou, Eleftherohorinou, Elks, Ellen A. Nohr, Frank Geller, Freedman, Fujiwara, Geller, George Davey Smith, Ghazaleh Fatemifar, Golding, Goyal, Gu, Gudbjartsson, Hammarsund, Haraguchi, Hikake, Holmans, Horikoshi, Houlston, Hughes, Inga Prokopenko, Jernvall, Jia, John P. Kemp, Jon H. Tobias, Jussila, Kang, Kere, Kirsi Sipila, Lango Allen, Lavinia Paternoster, Levy, Li, Ligon, Mads Melbye, Marjo-Riitta Jarvelin, Meindl, Mikkola, Momoko Horikoshi, Mustonen, Nicholas J. Timpson, Nohr, Nunes, Nyholt, Paternoster, Pillas, Pispa, Pruim, Raija Lähdesmäki, Sabatti, Sakuraba, Simón-Sánchez, Soranzo, Srivastava, Stein, Stephen Richmond, Susan M. Ring, Taal, Taviaux, Tummers, Vainio, Vaz, Victoria J. Wright, Weedon, Willer, Wise, Yabe, Yang, Zhang   +84 more
core   +2 more sources

Implant restoration of hypodontia resulting from ectodermal dysplasia: a case report

Journal of International Medical Research, 2021
Background Ectodermal dysplasia is a congenital genetic disorder with a prevalence of 1:10,000 to 1:100,000. The clinical features of ectodermal dysplasia include sparse hair, missing teeth, and abnormal development of the skin, sweat glands, and other ...
Qintian Zhu, Yixuan Jiang, Jilan Yu, Renfei Wang   +3 more
doaj   +1 more source

Ectodermal dysplasia: Report of two cases in a family and literature review

Journal of Family Medicine and Primary Care, 2019
Ectodermal dysplasia (ED) is a inherited genetic disorder with manifestations of abnormalities in more than one ectodermal derivatives like skin, hair, nails, exocrine glands and teeth.
V. Chappidi, Dheeraj Voulligonda, Bharadwaj Bhogavaram, P. Reddy   +3 more
semanticscholar   +1 more source

Ectodermal Dysplasias Revisited [PDF]

Acta geneticae medicae et gemellologiae, 1977
This paper presents a historical view of the development of the concept of ectodermal dysplasia, analyses five current “definitions” of the group, and classifies 52-57 ectodermal dysplasias into subgroups on the basis of criteria developed by the Author.
openaire   +2 more sources

Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification. [PDF]

, 2020
Since 2013, the International Union of Immunological Societies (IUIS) expert committee (EC) on Inborn Errors of Immunity (IEI) has published an updated phenotypic classification of IEI, which accompanies and complements their genotypic classification ...
Ailal, Fatima, Al-Herz, Waleed, Bousfiha, Aziz, Casanova, Jean-Laurent, Chatila, Talal, Cunningham-Rundles, Charlotte, Etzioni, Amos, Franco, Jose Luis, Holland, Steven M, Jeddane, Leila, Klein, Christoph, Morio, Tomohiro, Ochs, Hans D, Oksenhendler, Eric, Picard, Capucine, Puck, Jennifer, Sullivan, Kathleen E, Tangye, Stuart G, Torgerson, Troy R   +18 more
core  

Ectodermal dysplasia - A rare case report

Journal of Family Medicine and Primary Care, 2019
Ectodermal dysplasia (ED) is a rare genetic disease caused by developmental disturbances of embryonic ectoderm derived tissues, organs, and other accessory appendages. The congenital missing of teeth is usually bilateral.
Poulomi Bhakta, Bhavna Barthunia, Haritma Nigam, Pallavi Pawar   +3 more
semanticscholar   +1 more source

TRENDS IN DENTAL CARE FOR INDIVIDUALS WITH ECTODERMAL DYSPLASIA [PDF]

, 2011
Purpose: The specific aim of this study is to evaluate the trends in dental health care for individuals with ectodermal dysplasia. Methods: This was a cross sectional analysis of subjects recruited through the National Foundation of Ectodermal Dysplasia (
Edwards, Justin
core   +1 more source

Functional analysis of Ectodysplasin-A mutations causing selective tooth agenesis. [PDF]

, 2009
Mutations of the Ectodysplasin-A (EDA) gene are generally associated with the syndrome hypohidrotic ectodermal dysplasia (MIM 305100), but they can also manifest as selective, non-syndromic tooth agenesis (MIM300606).
A Monreal, A Monreal, Aubry Tardivel, C Bossen, D Han, D Jumlongras, DW Stockton, Gabriele Mues, H Fan, H Vastardis, Hitesh Kapadia, I Thesleff, J Kere, J Zonana, J Zonana, JS Thompson, K Newton, L Lammi, Laure Willen, M Bayés, M Rasool, M Yan, M-JH Van den Boogaar, ML Casal, MO Lexner, N Holler, O Elomaa, O Gaide, P Schneider, P Schneider, P Tarpey, Pascal Schneider, PF Colosimo, R Tao, Rena N D'Souza, Robyn Seaman, S Ezer, S Li, S Song, Sylvia Frazier-Bowers, Y Chen   +40 more
core   +3 more sources

The role of Rho GTPases in facial morphogenesis

Developmental Dynamics, EarlyView.
The role of small GTPases, RHOA, RAC1, and CDC42 and pathway mediators is reviewed in the context of embryonic facial development. Lip fusion requires cytoskeletal remodeling during morphogenesis of the facial processes and during lip fusion. Fnm, frontonasal mass; lnp, lateral nasal process; mnp, medial nasal process; mxp, maxillary process; np, nasal
Isra Ibrahim, Joy M. Richman
wiley   +1 more source