Results 61 to 70 of about 19,360 (251)

Ectodermal dysplasia: A report of two cases

open access: yesJournal of Craniomaxillofacial Research, 2017
Introduction: Ectodermal dysplasia (ED) is a group of syndromes and disorders in the human body characterized by structural anomalies in the ectoderm and often associated with hair, teeth and skin abnormalities.
Mozhgan Kazemian   +2 more
doaj  

Genetic characterization of congenital defects in dogs : caudal dysplasia, ectodermal dysplasia and mucopolysaccharidosis VII [PDF]

open access: yes, 2013
Since the sequencing of the Canis lupus familiaris genome the dog has become a powerful tool for scientists. Selective breeding has created more than 400 different breeds each representing genetic isolates with breed-specific morphological and behavioral
Hytönen, Marjo
core  

Arterial dysgenesis and limb defects : Clinical and experimental examples [PDF]

open access: yes, 2017
Acknowledgements This article is dedicated to Dr David S. Packard Jr. With thanks to Dr John DeSesso, Dr Lewis B. Holmes, Dr Mark Levinsohn, Dr David S.
Hootnick, David R., Vargesson, Neil
core   +1 more source

Evaluation of Ectodermal Dysplasia

open access: yesThe Kaohsiung Journal of Medical Sciences, 2006
This case series report outlines possible cranio‐maxillofacial deformation consequences associated with ectodermal dysplasia (ED) and embryonic malformations, including dental agenesis. Also described are the oral aspects and rehabilitation. A total of 14 ED patients (7 males and 7 females, aged 5‐45 years) underwent clinical examination before ...
Başkan, Zelal   +7 more
openaire   +3 more sources

Faecal microbiome, gastrointestinal integrity, inflammation and thermoregulation in recent exertional heat illness patients and matched controls

open access: yesExperimental Physiology, EarlyView.
Abstract The gastrointestinal (GI) microbiota and GI barrier integrity are hypothesised to contribute to exertional heat illness (EHI) aetiology. We compared the faecal microbiome, GI barrier integrity, inflammation and thermoregulation of 29 recent (∼4 months) EHI patients (a group with elevated EHI risk) and 29 control individuals without prior EHI ...
Alex A. M. Gould   +13 more
wiley   +1 more source

Ectodermal dysplasia

open access: yesJournal of Indian Academy of Oral Medicine and Radiology, 2009
Hereditary hypohidrotic ectodermal dysplasia, also called the Christ-Siemens-Touraine Syndrome is characterized by congenital dysplasia of one or more ectodermal structures and is manifested by hypohidrosis, hypotrichosis and hypodontia. It is usually an
Sonia Saggoo   +3 more
doaj   +1 more source

A dominant mutation etiologic for human tricho-dento-osseous syndrome impairs the ability of DLX3 to downregulate ΔNp63α. [PDF]

open access: yes, 2011
The homeodomain transcription factors play crucial roles in many developmental processes ranging from organization of the body plan to differentiation of individual tissues.
Calabrò V.   +7 more
core   +1 more source

The HRAS Variant c.175G>A (p.Ala59Thr) Causes a Predominantly Ectodermal Phenotype Lacking Classic Costello Syndrome Features

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 407-418, February 2026.
ABSTRACT Costello syndrome (CS) is a rare dominant HRAS RASopathy characterized by curly hair, cardiac abnormalities, craniofacial anomalies, and developmental delay. HRAS codon 58, 59, and 60 variants are associated with milder phenotypes. We describe a three‐generation family with a previously unreported heterozygous HRAS variant c.175G>A (p.Ala59Thr)
Nikole Rautiainen   +10 more
wiley   +1 more source

Prosthetic rehabilitation of an adolescent with hypohidrotic ectodermal dysplasia with partial anodontia: Case report

open access: yesJournal of Indian Society of Pedodontics and Preventive Dentistry, 2008
Ectodermal dysplasia is a hereditary syndrome characterized by dysplasia of tissues of ectodermal origin (hair, skin, nails, and teeth) and occasionally, dysplasia of mesodermally derived tissues.
Kaul S, Reddy R
doaj  

Orthodontic and dentofacial orthopedic treatments in patients with ectodermal dysplasia: a systematic review

open access: yesOrphanet Journal of Rare Diseases, 2022
Objective The objective of this systematic review was to determine the orthodontic and dentofacial orthopedic treatments carried out in patients with ectodermal dysplasia to facilitate functional and aesthetic rehabilitation.
Marina Cerezo-Cayuelas   +6 more
doaj   +1 more source

Home - About - Disclaimer - Privacy