Results 31 to 40 of about 8,789 (185)

Meeting report: a hard look at the state of enamel research. [PDF]

, 2017
The Encouraging Novel Amelogenesis Models and Ex vivo cell Lines (ENAMEL) Development workshop was held on 23 June 2017 at the Bethesda headquarters of the National Institute of Dental and Craniofacial Research (NIDCR).
Bartlett, John D, DenBesten, Pamela, Diekwisch, Thomas Gh, Duverger, Olivier, Joester, Derk, Klein, Ophir D, Kulkarni, Ashok B, Lacruz, Rodrigo S, Millar, Sarah E, Moradian-Oldak, Janet, Pugach, Megan K, Shaw, Wendy, Simmer, James P, Wright, J Timothy   +13 more
core   +1 more source

Exome sequencing enables diagnosis of X-linked hypohidrotic ectodermal dysplasia in patient with eosinophilic esophagitis and severe atopy

Allergy, Asthma & Clinical Immunology, 2021
X-linked hypohidrotic ectodermal dysplasia (XLHED) is the most common form of ectodermal dysplasia. Clinical and genetic heterogeneity between different ectodermal dysplasia types and evidence of incomplete penetrance and variable expressivity increase ...
Bhavi P. Modi, Kate L. Del Bel, Susan Lin, Mehul Sharma, Phillip A. Richmond, Clara D. M. van Karnebeek, Edmond S. Chan, Vishal Avinashi, Wingfield E. Rehmus, Catherine M. Biggs, Wyeth W. Wasserman, Stuart E. Turvey   +11 more
doaj   +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

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  

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

Genetic basis of dental agenesis - molecular genetics patterning clinical dentistry [PDF]

, 2013
Tooth agenesis is one of the most common congenital malformations in humans. Hypodontia can either occur as an isolated condition (non-syndromic hypodontia) or can be associated with a syndrome (syndromic hypodontia), highlighting the heterogeneity of ...
Chhabra, Anuj, Chhabra, Nidhi, Goswami, Mridula   +2 more
core   +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

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Hypohidrotic ectodermal dysplasia

Dermatology Online Journal, 2008
We report three children with hypohidrotic ectodermal dysplasia (HED), which includes two sisters with unaffected parents (and therefore likely autosomal recessive inheritance of HED) and an unrelated boy. Each patient presented with hypohidrosis, sparse hair, oligodontia with conical teeth, periorbital hyperpigmentation, eczematous dermatitis, and ...
Lu, Phoebe D, Schaffer, Julie V
openaire   +4 more sources

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source