Results 61 to 70 of about 11,448 (231)
Hiperqueratose epidermolítica em gêmeas monozigóticas: relato de caso e revisão de literatura. [PDF]
, 2007 Trabalho de Conclusão de Curso - Universidade Federal de Santa Catarina. Curso de Medicina.
Sens, Mariana Mazzochi
core
Indian Journal of Dermatology, 2021 We report a case of annular epidermolytic ichthyosis (AEI) resulting from de novo keratin 1 gene mutation. AEI is a rare autosomal dominantly inherited cornification disorder and is a distinct phenotypic variant of bullous congenital ichthyosiform ...
Lihong Chen +4 more
doaj +1 more source
A global perspective of arrhythmogenic right ventricular cardiomyopathy. [PDF]
, 2012 Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a progressive inherited heart disease characterized by ventricular arrhythmias and sudden cardiac death especially in the young. ARVC has been traditionally associated with the Mediterranean basin,
Alhashemi, M +3 more
core +1 more source
Analysis of the human diseasome reveals phenotype modules across common, genetic, and infectious diseases [PDF]
, 2014 Phenotypes are the observable characteristics of an organism arising from its response to the environment. Phenotypes associated with engineered and natural genetic variation are widely recorded using phenotype ontologies in model organisms, as are signs
Gkoutos, Georgios V +2 more
core +2 more sources
Epidermolytic hyperkeratosis with rickets
Indian Journal of Dermatology, Venereology and Leprology, 2006 A 6-year-old child presented with generalized hyperkeratosis, most marked over the flexures; windswept deformity of the legs; and limping since 3 years. On the basis of the clinical, histopathologic and biochemical findings, he was diagnosed as a case of epidermolytic hyperkeratosis with rickets.
Surajit, Nayak +4 more
openaire +2 more sources
Genome sequencing of multidrug resistant novel Clostridium sp. BL8 reveals its potential for pathogenicity [PDF]
, 2014 BACKGROUND: The human gut microbiome is important for maintaining the health status of the host. Clostridia are key members of the human gut microbiome, carrying out several important functions in the gut environment.
Dilip R Ranade +5 more
core +2 more sources
JEADV Clinical Practice, Volume 4, Issue 3, Page 664-668, August 2025.ABSTRACT Mosaicism due to postzygotic mutations is more common than considered before the era of massive parallel sequencing. In the clinical dermatologic practice, it is important to recognize skin lesions and syndromes caused by genetic mosaicism, to initiate genetic testing and counsel the patient and families regarding prognosis and risk of ...
Cristina Has
wiley +1 more source
Acantoma epidermolitico da região escrotal Epidermolytic acanthoma of the scrotum
Anais Brasileiros de Dermatologia, 2006 São apresentados dois casos de acantoma epidermolítico da região escrotal. Trata-se de homens com 52 e 68 anos de idade, tendo 21 e cinco lesões, respectivamente, todas assintomáticas.
Nelson Guimarães Proença +1 more
doaj +1 more source
, 2005 Since 1995, according to the World Health Organisation’s classification of cardiomyopathies, Naxos disease has been considered as the recessive form of arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C).1 It is a stereotype association of
Protonotarios, Nikos +1 more
core +2 more sources
The phenotypic and genotypic spectra of ichthyosis with confetti plus novel genetic variation in the 3' end of KRT10: from disease to a syndrome [PDF]
, 2015 Ichthyosis with confetti (IWC) is a genodermatosis caused by dominant negative mutations in the gene encoding keratin 10 (KRT10). We investigated clinical and genetic details of a substantial number of patients with IWC in order to define major and minor
Brena, Michela +7 more
core +1 more source