Results 71 to 80 of about 18,314 (251)

Odontomicronychial ectodermal dysplasia. [PDF]

Journal of Medical Genetics, 1996
This paper describes odontomicronychial dysplasia, a pure ectodermal dysplasia of the 2-3 subgroup of group A. It is characterised by precocious eruption and shedding of deciduous dentition, precocious eruption of secondary dentition with short, rhomboid roots, and short, thin, slow growing nails.
A L Snel, N Freire-Maia, M Pinheiro
openaire   +3 more sources

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

, 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  

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

, 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., Di Costanzo A, Festa L, La Mantia G, Morasso M, Pollice A, Roscigno G, Vivo M   +7 more
core   +1 more source

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

Experimental 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, Neil P. Walsh, Michael J. Tipton, Michael J. Zurawlew, Omar Tayari, Carol House, Simon K. Delves, Samuel C. Robson, Janis J. Shute, Joy E. M. Watts, Andrew J. Roberts, Alex J. Rawcliffe, Megan R. Robinson, Jo Corbett   +13 more
wiley   +1 more source

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

Journal 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  

Biallelic FGF4 Variants Linked to Thoracic Dystrophy and Respiratory Insufficiency

Clinical Genetics, Volume 108, Issue 4, Page 479-485, October 2025.
We report three people from two unrelated families with a clinical diagnosis of thoracic dystrophy characterized by short or missing ribs, narrow chest, and respiratory insufficiency. Affected people each have rare, biallelic, predicted deleterious missense substitutions in FGF4, a gene known to be essential for the formation of the thoracic skeleton ...
Laura M. Watts, Esther Kinning, Donald R. Latner, Marla Johnston, Jessica Patrick‐Esteve, Gregory M. Cooper, Stephen R. F. Twigg, Alistair T. Pagnamenta, Jenny C. Taylor   +8 more
wiley   +1 more source

Ectrodactyly, Ectodermal Dysplasia, Cleft Lip, and Palate (EEC Syndrome) with Tetralogy of Fallot: A Very Rare Combination [PDF]

, 2015
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome (EEC) syndrome is a rare genetic disorder with an incidence of around 1:90,000 live births.
Aakash Pandita, Chetan Kumar, Deepak Sharma, Pradeep Sharma, Sanjay Bhalerao, Sweta Shastri   +5 more
core   +2 more sources

Humeroradial Synostosis: An Updated Classification and Differential Diagnosis Based on Genetic Aetiology

Clinical Genetics, Volume 108, Issue 4, Page 379-392, October 2025.
The proposed updated classification of humeroradial synostosis is based on the molecular pathways of the genes involved: (1) chondrogenesis and osteogenesis; (2) limb development and patterning; (3) genome regulation. Thus, pathologies belonging to the same molecular type may have overlapping clinical phenotypes, helping to structure the diagnostic ...
Fiona Leduc, Clémence Vanlerberghe, Fabienne Escande, Perrine Brunelle, Florence Petit, Anne Dieux   +5 more
wiley   +1 more source

Auto-percepção dos portadores de Amelogênese Imperfeita e Displasia [PDF]

, 2012
TCC (graduação) - Universidade Federal de Santa Catarina. Centro de Ciências da Saúde. Odontologia.A Amelogênese Imperfeita é um distúrbio hereditário caracterizado pela formação anormal de esmalte, o que gera dentes com alteração de cor, sensibilidade e
Klita, Ana Paula Haisi
core  

Ectodermal Dysplasia

, 2016
ABSTRACT Background and Setting: Hypohidrotic (anhidrotic) ectodermal dysplasia (HED) is a congenital syndrome that exhibits features of oligodontia/anodontia, scant hair and reduced sweating. It has an estimated prevalence of 1/17000, worldwide. Presented here is a case of HED in a 22-year-old male patient who had congenitally missing teeth.
DR. Saurabh Shekhar, MDS [1], DR. Punnya Angadi, MDS, DNB, PHD [2], Dr Swapnil Singh, BDS [3]   +2 more
openaire   +2 more sources