Results 81 to 90 of about 6,152 (269)

Germline variant in MSX1 identified in a Dutch family with clustering of Barrett’s esophagus and esophageal adenocarcinoma [PDF]

, 2017
The vast majority of esophageal adenocarcinoma cases are sporadic and caused by somatic mutations. However, over the last decades several families have been identified with clustering of Barrett’s esophagus and esophageal adenocarcinoma. This observation
Biermann, K. (Katharina), Dinjens, W.N.M. (Winand), IJcken, W.F.J. (Wilfred) van, Klein, A. (Annelies) de, Lanschot, J.J.B. (Jan) van, Marion, R. (Ronald) van, Nistelrooij, A.M.J. (Annemarie) van, Spaander, M.C.W. (Manon), Wagner, A. (Anja), Wijnhoven, B.P.L. (Bas)   +9 more
core   +1 more source

Retinal Pigment Epitheliopathy due to Sub‐Optimal Recycling of Vitamin A (RESORVA): A Novel RDH11‐Related Phenotype

Clinical Genetics, EarlyView.
RDH11 is a minor isoenzyme that catalyses the oxidation of 11‐cis‐retinol to 11‐cis‐retinal in the retinal pigment epithelium, alongside RDH5 and RDH10. Biallelic null variants in RDH11 lead to upregulation of RDH5 and RDH10 (transcriptional adaptation), maintaining 11‐cis‐retinal bioavailability, but still causing Retinal Pigment Epitheliopathy due to
Kirk A. J. Stephenson, Zhuo Shao, Anupreet Tumber, Erika Tavares, Kashif Ahmed, Edward J. Higginbotham, Christian R. Marshall, Jason T. Maynes, Ammaji Rajala, Raju V. S. Rajala, Elise Héon, Ajoy Vincent   +11 more
wiley   +1 more source

Delayed Dental Development in Children With Non‐Syndromic Hypodontia: A Cross‐Sectional Study Using a Machine Learning Approach to Dental Age Estimation

Orthodontics &Craniofacial Research, EarlyView.
ABSTRACT Objectives To investigate the influence of non‐syndromic hypodontia on radiographic dental development and to estimate dental age in children with bilateral mandibular agenesis using a machine learning approach. Materials and Methods This retrospective cross‐sectional study included 626 children aged 6–15 years (311 with dental agenesis, 315 ...
Marine Crosnier, Pierre‐Hadrien Decaup, Frédéric Santos, Anaïs Cavare   +3 more
wiley   +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

Ubiquitin Ligases of the N-End Rule Pathway: Assessment of Mutations in UBR1 That Cause the Johanson-Blizzard Syndrome [PDF]

, 2011
Background: Johanson-Blizzard syndrome (JBS; OMIM 243800) is an autosomal recessive disorder that includes congenital exocrine pancreatic insufficiency, facial dysmorphism with the characteristic nasal wing hypoplasia, multiple malformations, and ...
Addor, Marie-Claude, Batygin, Olga, Brunner, Han, Hwang, Cheol-Sang, Mayerle, Julia, Perez Aytes, Antonio, Song, Hyun Kyu, Sukalo, Maja, Varshavsky, Alexander, Zenker, Martin   +9 more
core   +5 more sources

Periodontal Architecture in Ectodermal Dysplasia: An Observational Clinical and Histological Study

Oral Diseases, EarlyView.
ABSTRACT Objective To investigate gingival and periodontal characteristics in Ectodermal dysplasia (ED), focusing on soft‐tissue phenotype, anatomical variations, and periodontal architecture. Materials and Methods Observational clinical study of 11 individuals (16–30 years) with confirmed clinical or genetic ED diagnosis.
Marco Montevecchi, Margherita Giorgia Liguori, Ilaria Santini, Nicola Marco Sforza, Giulia Querzoli, Leoluca Valeriani   +5 more
wiley   +1 more source

Treatment with removable prosthesis in hypohidrotic ectodermal dysplasia : a clinical case [PDF]

, 2008
Ectodermal dysplasias form part of a wide range of syndromes presenting abnormal development of two or more tissues derived from the ectoderm. Hypohidrotic ectodermal dysplasia is a congenital syndrome, characterized by hypotrichosis (hair is sparse ...
Blanco-Moreno Alvarez-Buylla, Fernando, González García, Manuel, López-Arranz Monje, E., Martínez Fernández, Miguel, Pipa Vallejo, Adolfo   +4 more
core  

Multidisciplinary treatment of non-syndromic oligodontia [PDF]

European Journal of Dentistry, 2012
ABSTRACTOligodontia is the agenesis of 6 or more teeth, excluding third molars. The etiology of congenital absence of teeth is believed to be rooted in heredity or developmental anomalies. The absence of teeth in patients can cause aesthetic, functional, and psychological problems, particularly if the anterior region is involved.
Canan, Bural, Evren, Oztas, Sukru, Ozturk, Gulsen, Bayraktar   +3 more
openaire   +2 more sources

Prevalence and Patterns of Permanent Tooth Agenesis in Patients With Crouzon or Apert Syndrome: A Systematic Review and Meta‐Analysis

Orthodontics &Craniofacial Research, Volume 29, Issue 1, Page 1-11, February 2026.
ABSTRACT Crouzon and Apert syndromes are rare syndromic craniosynostoses frequently associated with craniofacial and dental anomalies, including tooth agenesis. Although individual studies have reported tooth agenesis prevalence data in specific populations, no attempts have been made to systematically synthesise these data.
M. Cecilia Becerril Santos, Edwin M. Ongkosuwito, Alexandra K. Papadopoulou, Gregory S. Antonarakis   +3 more
wiley   +1 more source

Prosthetic Rehabilitation in Children: An Alternative Clinical Technique

Case Reports in Dentistry, 2013
Complete and partial removable dentures have been used successfully in numerous patients with oligodontia and/or anodontia. However, there is little information in the literature regarding the principles and guidelines to prosthetic rehabilitation for ...
Nádia Carolina Teixeira Marques, Carla Vecchione Gurgel, Ana Paula Fernandes, Marta Cunha Lima, Maria Aparecida Andrade Moreira Machado, Simone Soares, Thais Marchini Oliveira   +6 more
doaj   +1 more source