16 documents found, page 1 of 2
The role of AKT3 copy number changes in brain abnormalities and neurodevelopmen...
Lopes, Fátima Daniela Teixeira; Torres, Fátima; Soares, Gabriela; Karnebeek, Clara D. van; Martins, Cecília; Antunes, Diana; Silva, JoãoMicrodeletions at 1q43-q44 have been described as resulting in a clinically recognizable phenotype of intellectual disability (ID), facial dysmorphisms and microcephaly (MIC). In contrast, the reciprocal microduplications of 1q43-q44 region have been less frequently reported and patients showed a variable phenotype, including macrocephaly. Reports of a large number of patients with copy number variations involv...
Genomic imbalances defining novel intellectual disability associated loci
Lopes, Fátima Daniela Teixeira; Torres, Fátima; Soares, Gabriela; Barbosa, Mafalda; Silva, João; Duque, Frederico; Rocha, Miguel; Sá, JoaquimHigh resolution genome-wide copy number analysis, routinely used in clinical diagnosis for several years, retrieves new and extremely rare copy number variations (CNVs) that provide novel candidate genes contributing to disease etiology. The aim of this work was to identify novel genetic causes of neurodevelopmental disease, inferred from CNVs detected by array comparative hybridization (aCGH), in a cohort of 3...
Genomic imbalances defining novel intellectual disability associated loci
Lopes, Fátima; Torres, Fátima; Soares, Gabriela; Barbosa, Mafalda; Silva, João; Duque, Frederico; Rocha, Miguel; Sá, Joaquim; Oliveira, GuiomarBackground: High resolution genome-wide copy number analysis, routinely used in clinical diagnosis for several years, retrieves new and extremely rare copy number variations (CNVs) that provide novel candidate genes contributing to disease etiology. The aim of this work was to identify novel genetic causes of neurodevelopmental disease, inferred from CNVs detected by array comparative hybridization (aCGH), in a...
The role of AKT3 copy number changes in brain abnormalities and neurodevelopmen...
Lopes, Fátima; Torres, Fátima; Soares, Gabriela; van Karnebeek, Clara D.; Martins, Cecília; Antunes, Diana; Silva, João; Muttucomaroe, LaurenMicrodeletions at 1q43-q44 have been described as resulting in a clinically recognizable phenotype of intellectual disability (ID), facial dysmorphisms and microcephaly (MIC). In contrast, the reciprocal microduplications of 1q43-q44 region have been less frequently reported and patients showed a variable phenotype, including macrocephaly. Reports of a large number of patients with copy number variations involv...
Genomic imbalances defining novel intellectual disability associated loci
Lopes, Fátima; Torres, Fátima; Soares, Gabriela; Barbosa, Mafalda; Silva, João; Duque, Frederico; Rocha, Miguel; Sá, Joaquim; Oliveira, GuiomarBackground: High resolution genome-wide copy number analysis, routinely used in clinical diagnosis for several years, retrieves new and extremely rare copy number variations (CNVs) that provide novel candidate genes contributing to disease etiology. The aim of this work was to identify novel genetic causes of neurodevelopmental disease, inferred from CNVs detected by array comparative hybridization (aCGH), in a...
The contribution of 7q33 copy number variations for intellectual disability
Lopes, Fátima Daniela Teixeira; Torres, Fátima; Lynch, Sally Ann; Jorge, Arminda; Sousa, Susana; Silva, João; Rendeiro, Paula; Tavares, PurificaçãoCopy number variations (CNVs) at the 7q33 cytoband are very rarely described in the literature, and almost all of the cases comprise large deletions affecting more than just the q33 segment. We report seven patients (two families with two siblings and their affected mother and one unrelated patient) with neurodevelopmental delay associated with CNVs in 7q33 alone. All the patients presented mild to moderate int...
Síndrome de Noonan. Reavaliação clínica e estudo molecular de 16 casos
B. Sousa, Sérgio; Venâncio, Margarida; Gabriel, Helena; Ramos, Lina; Santos, Isabel; Beck, Sebastian; Jorge, Marta; Simão, Luisa; Tavares, PurificaçãoResumo O 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 ...
Different manifestations of class II division 2 incisor retroclination and thei...
Pereira, Pedro Mariano; Ferreira, Afonso Pinhão; Tavares, Purificação; Braga, Ana Cristina"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...
Different manifestations of Class II Division 2 incisor retroclination – Morpho...
Pereira, Pedro Mariano; Ferreira, Afonso Pinhão; Tavares, Purificação; Braga, Ana Cristina"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...
Ehlers-Danlos syndrome type IV in association with a (c.970G>A) mutation in the...
Rebelo, Marta; Ramos, Leonor; Lima, Jandira; Vieira, J Diniz; Tavares, Purificação; Teixeira, Luísa; Matos, Albuquerque; Costa, J NascimentoThe Ehlers-Danlos syndrome type IV (EDS-IV) is a hereditary, autosomal dominant disease that causes a defect in the procollagen III synthesis, which results in a structural modification in this protein. An awareness of the disease is of vital importance for the optimal outcome, since the affected individuals have a high risk of vascular, intestinal and uterine rupture. It's a disease with great clinical variabi...