Results 71 to 80 of about 8,662 (264)

Hereditary Hypohidrotic Ectodermal Dysplasia: Report of a Rare Case [PDF]

Journal of Clinical and Diagnostic Research, 2013
Hereditary Hypohidrotic Ectodermal Dysplasia (HHED), an X-linked, recessive, Mendelian character, is seen usually in males and it is inherited through female carriers.
Geetha Paramkusam, Venkateswarlu Meduri, Lakshmi Kavitha Nadendla, Namratha Shetty   +3 more
doaj   +1 more source

An evaluation of clinical, radiological and three-dimensional dental tomography findings in ectodermal dysplasia cases [PDF]

, 2015
Background:This study aimed to review the results related to head and jaw disorders in cases of ectodermal dysplasia. The evaluation of ectodermal dysplasia cases was made by clincal examination and examination of the jaw and facial areas radiologically
Akkus, Zeki, Aksoy, Orhan, Callea, Michele, Clarich, Gabriella, Doğan, Mehmet Sinan, Günay, Ahmet, Günay, Ayşe, Güven, Sedat, Maglione, Michele, Yavuz, İzzet   +9 more
core   +2 more sources

Ectodermal dysplasia - Maxillary and mandibular alveolar reconstruction with dental rehabilitation: A case report and review of the literature

Indian Journal of Plastic Surgery, 2010
Ectodermal dysplasia is a rare group of inherited disorders characterized by aplasia or dysplasia of tissues of ectodermal origin, such as hair, nails, teeth and skin. Dental manifestations include hypodontia, complete anodontia or malformed teeth.
Deshpande Sanjeev, Kumar Vikas
doaj   +3 more sources

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

Christ-Siemens-Touraine Syndrome: Case Report of 2 Brothers [PDF]

Journal of Clinical and Diagnostic Research, 2014
Ectodermal dysplasia is a rare disorder. Christ-Siemens-Touraine syndrome (Hypohidrotic Ectodermal dysplasia (HED)) is a diffuse, non-progressive disease present at birth and involves at least two tissues of ectodermal origin.
RITA V VORA, GOPIKRISHNAN ANJANEYAN, ARVIND CHAUDHARI, ABHISHEK P PILANI   +3 more
doaj   +1 more source

A novel frameshift mutation in the EDA gene in an Iranian patient affected by X-linked hypohidrotic ectodermal dysplasia. [PDF]

Cell Mol Biol Lett, 2019
Rahbaran M, Hassani Doabsari M, Salavitabar S, Mokhberian N, Morovvati Z, Morovvati S.   +5 more
europepmc   +3 more sources

Ectodysplasin A (EDA) - EDA receptor signalling and its pharmacological modulation. [PDF]

, 2014
The TNF family ligand ectodysplasin A (EDA) regulates the induction, morphogenesis and/or maintenance of skin-derived structures such as teeth, hair, sweat glands and several other glands.
Kowalczyk-Quintas, C., Schneider, P.
core   +1 more source

Hypohidrotic ectodermal dysplasia and finger clubbing – An unknown association

Asian Journal of Medical Sciences, 2014
The ectodermal dysplasias are heterogenous group of inherited disorders with primary defects in tissues derived from embryonic ectoderm such as hair, tooth, nail and sweat gland.
Amit Sarkar
doaj   +1 more source

Novel EDA mutations cause X-linked hypohidrotic ectodermal dysplasia: the first study from Venezuela [PDF]

, 2023
Hypohidrotic/anhidrotic ectodermal dysplasia (HED) is a rare genetic disorder affecting ectodermal tissues mainly including hair, teeth, sweat glands, skin and nails.
Bashyam, Murali Dharan, Bellacchio, Emanuele, Callea, Michele, Cammarata-Scalisi, Francisco, Castillo, Maykol Araya, Chaudhary, Ajay Kumar, Cárdenas Tadich, Antonio, Morabito, Antonino, Novelli, Antonio, Pisaneschi, Elisa, Willoughby, Colin E   +10 more
core   +1 more source

Reproductive decision‐making by women with X‐linked hypohidrotic ectodermal dysplasia

Journal of the European Academy of Dermatology and Venereology, 2022
In X‐linked hypohidrotic ectodermal dysplasia (XLHED), ectodysplasin A1 (EDA1) deficiency results in malformation of hair, teeth and sweat glands. Lack of sweating which can cause life‐threatening hyperthermia is amenable to intrauterine therapy with ...
B. Leo, H. Schneider, J. Hammersen
semanticscholar   +1 more source