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Síndrome de Noonan. Reavaliação clínica e estudo molecular de 16 casos

ResumoO Síndrome de Noonan (SN, MIM#163950) é uma patologia do desenvolvimento caracterizada por dismorfia facial típica, baixa estatura e cardiopatia congénita. Tem uma frequência estimada de 1:1000-2500 nascimentos e transmissão autossómica dominante, com neomutações frequentes. Em 30-60% dos casos é possível identificar uma mutação no gene PTPN11.Foram reavaliados clínica, laboratorial e cognitivamente 16 in...

Different manifestations of Class II Division 2 incisor retroclination – Morpho...

"Introduction: The aim of the present study was to investigate whether there is a different transverse morphologic pattern of dental arches among the different manifestations of Class II Division 2 incisor retroclination and evaluate to what extent the pattern of smaller-than-average teeth in Class II Division 2 malocclusion is common to all groups studied. This information may clarify whether different Class I...

Different manifestations of class II division 2 incisor retroclination and thei...

"Objective: To investigate whether there is an association between dental development anomalies (DDAs) and the different manifestations of Class II Division 2 (CII/2) malocclusion incisor retroclination. This information may clarify whether the different CII/2 phenotypes, with regard to maxillary incisor retroclination, are a single clinical entity or etiologically different entities. Design: Retrospective comp...

The rs5743836 polymorphism in TLR9 confers a population-based increased risk of...

We are grateful to Paulo Vieira, Cecília Leão, Manuel T. Silva, Nuno Sousa, Jorge Correia- Pinto, Joana Palha, Margarida Correia-Neves, Margarida Lima and Matthew Berry for all their input throughout these studies and critical reading of the manuscript. We are grateful to the patients who joint this study as well as to all members of the Life and Health Sciences Research Institute and School of Health Sciences,...

Associação da má oclusão de Classe II Divisão 2 com anomalias do desenvolviment...

Developmental absence of maxillary lateral incisors in the Portuguese population

The aim of this study was to evaluate the prevalence and clinical manifestation of developmental absence of maxillary permanent lateral incisors in the Portuguese population. The study group comprised 16 771 patients observed between 1993 and 2000 at the Faculty clinic. Two hundred and nineteen patients were found to have missing upper lateral incisors (131 females and 88 males, with ages ranging between 3 and ...