Results 41 to 50 of about 18,314 (251)

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

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   +3 more sources

Non-functional immunoglobulin G transcripts in a case of hyper-immunoglobulin M syndrome similar to type 4 [PDF]

, 2004
86% of immunoglobulin G (IgG) heavy-chain gene transcripts were found to be non-functional in the peripheral blood B cells of a patient initially diagnosed with common variable immunodeficiency, who later developed raised IgM, whereas no non-functionally
Allen RC, Aruffo A, Bonhomme D, Fuleihan R, Lin Q, Mayer L, Ramesh N, Seyama K, Webster ADB, WHO Scientific Group.   +9 more
core   +3 more sources

A review of implant provision for hypodontia patients within a Scottish referral centre [PDF]

, 2017
Background: Implant treatment to replace congenitally missing teeth often involves multidisciplinary input in a secondary care environment. High quality patient care requires an in-depth knowledge of treatment requirements.
A Dasmah, AK Yap, B Thilander, B. Burns, CE Misch, DA Buser, E Nyström, F Raes, F Schwarz, GO Gallucci, J Cosyn, J Derks, L Anweigi, L. Savarrio, M Dierens, M Hof, NE Epstein, R Fürhauser, S Todescan, T Berglundh, V. Bissell, V. Grieg   +21 more
core   +1 more source

REHABILITASI PASIEN GIGI TIRUAN PENUH DENGAN EKTODERMAL DYSPLASIA (LAPORAN KASUS)

Journal of Dentistry Indonesia, 2015
Ectodermal dysplasia is a rare congenital disease that affects several ectodermal structures. This disease is usually transmitted as an x-linked recessive trait in which the gene is carried by female and manifested in male.
Susi R. Puspita Dewi
doaj   +1 more source

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

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

Genotype–Phenotype Correlation in TTC7A‐Associated Gastrointestinal Defects and Immunodeficiency Syndrome 1

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gastrointestinal defects and immunodeficiency syndrome 1 (GIDID1) is a rare autosomal recessive disorder caused by biallelic variants in TTC7A. GIDID1 is characterized by a broad clinical spectrum ranging from very early‐onset inflammatory bowel disease (VEOIBD) to multiple intestinal atresia (MIA) with or without immunological manifestations.
Julia Imhoff, Hans Christian Schmidt, Matthias Hans Belau, Johanna Hagens, Mario Lange, Daniel Tegtmeyer, Konrad Reinshagen, Frederike Leonie Harms, Christian Tomuschat   +8 more
wiley   +1 more source

Poland Anomaly and Atretic Cephalocele in the Same Child: Coincidence or Association?

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Poland Anomaly is a rare congenital disorder typically characterized by hypoplasia or agenesis of pectoral muscle with or without ipsilateral limb hypoplasia. The association of central nervous system malformation with Poland Anomaly has been rarely reported and includes craniofacial dysplasia, microcephaly, and Dandy‐Walker malformation ...
Alessandra Greta Grassi, Silvia Pontesilli, Laura Demelas, Francesca Vigliani, Massimo Agosti, Angelo Selicorni   +5 more
wiley   +1 more source

Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome: A case report of "Incomplete syndrome"

Contemporary Clinical Dentistry, 2012
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate (EEC) is a rare syndrome having ectrodactyly, ectodermal dysplasia, and cleft lip/palate. So far, very few cases have been reported in literature.
P K Shivaprakash, Hrishikesh V Joshi, Hina Noorani, Venugopal Reddy   +3 more
doaj   +1 more source