1 resultado para Maintenance and preservation
em Instituto Nacional de Saúde de Portugal
Filtro por publicador
- JISC Information Environment Repository (2)
- Aberdeen University (1)
- Abertay Research Collections - Abertay University’s repository (1)
- Aberystwyth University Repository - Reino Unido (3)
- Academic Archive On-line (Stockholm University; Sweden) (1)
- AMS Tesi di Dottorato - Alm@DL - Università di Bologna (7)
- AMS Tesi di Laurea - Alm@DL - Università di Bologna (3)
- Aquatic Commons (19)
- Archive of European Integration (17)
- Archivo Digital para la Docencia y la Investigación - Repositorio Institucional de la Universidad del País Vasco (4)
- Aston University Research Archive (12)
- B-Digital - Universidade Fernando Pessoa - Portugal (1)
- Biblioteca Digital da Câmara dos Deputados (1)
- Biblioteca Digital da Produção Intelectual da Universidade de São Paulo (10)
- Biblioteca Digital da Produção Intelectual da Universidade de São Paulo (BDPI/USP) (4)
- Biblioteca Digital de Teses e Dissertações Eletrônicas da UERJ (26)
- Biodiversity Heritage Library, United States (3)
- BORIS: Bern Open Repository and Information System - Berna - Suiça (22)
- Boston University Digital Common (1)
- Brock University, Canada (6)
- Bucknell University Digital Commons - Pensilvania - USA (1)
- Bulgarian Digital Mathematics Library at IMI-BAS (56)
- CaltechTHESIS (1)
- Cambridge University Engineering Department Publications Database (9)
- CentAUR: Central Archive University of Reading - UK (31)
- Center for Jewish History Digital Collections (1)
- Chinese Academy of Sciences Institutional Repositories Grid Portal (26)
- Cochin University of Science & Technology (CUSAT), India (9)
- Comissão Econômica para a América Latina e o Caribe (CEPAL) (3)
- CORA - Cork Open Research Archive - University College Cork - Ireland (4)
- Corvinus Research Archive - The institutional repository for the Corvinus University of Budapest (2)
- Dalarna University College Electronic Archive (6)
- Deakin Research Online - Australia (36)
- Department of Computer Science E-Repository - King's College London, Strand, London (2)
- DI-fusion - The institutional repository of Université Libre de Bruxelles (1)
- Digital Commons - Michigan Tech (2)
- Digital Commons @ DU | University of Denver Research (1)
- Digital Commons at Florida International University (13)
- Digital Peer Publishing (1)
- DigitalCommons@The Texas Medical Center (7)
- DigitalCommons@University of Nebraska - Lincoln (3)
- Doria (National Library of Finland DSpace Services) - National Library of Finland, Finland (1)
- DRUM (Digital Repository at the University of Maryland) (5)
- Duke University (10)
- Ecology and Society (1)
- eResearch Archive - Queensland Department of Agriculture; Fisheries and Forestry (10)
- FAUBA DIGITAL: Repositorio institucional científico y académico de la Facultad de Agronomia de la Universidad de Buenos Aires (1)
- Glasgow Theses Service (2)
- Greenwich Academic Literature Archive - UK (4)
- Helda - Digital Repository of University of Helsinki (17)
- Illinois Digital Environment for Access to Learning and Scholarship Repository (1)
- Indian Institute of Science - Bangalore - Índia (19)
- Instituto Nacional de Saúde de Portugal (1)
- Instituto Politécnico do Porto, Portugal (1)
- Iowa Publications Online (IPO) - State Library, State of Iowa (Iowa), United States (43)
- Laboratório Nacional de Energia e Geologia - Portugal (1)
- Massachusetts Institute of Technology (2)
- National Center for Biotechnology Information - NCBI (14)
- Plymouth Marine Science Electronic Archive (PlyMSEA) (2)
- Publishing Network for Geoscientific & Environmental Data (90)
- QUB Research Portal - Research Directory and Institutional Repository for Queen's University Belfast (42)
- Queensland University of Technology - ePrints Archive (127)
- Repositório Alice (Acesso Livre à Informação Científica da Embrapa / Repository Open Access to Scientific Information from Embrapa) (1)
- Repositório Científico da Universidade de Évora - Portugal (2)
- Repositório Científico do Instituto Politécnico de Lisboa - Portugal (2)
- Repositorio de la Universidad de Cuenca (1)
- Repositório Digital da UNIVERSIDADE DA MADEIRA - Portugal (1)
- Repositório Institucional da Universidade de Aveiro - Portugal (2)
- Repositorio Institucional de la Universidad de Málaga (1)
- Repositório Institucional UNESP - Universidade Estadual Paulista "Julio de Mesquita Filho" (62)
- Research Open Access Repository of the University of East London. (1)
- RUN (Repositório da Universidade Nova de Lisboa) - FCT (Faculdade de Cienecias e Technologia), Universidade Nova de Lisboa (UNL), Portugal (1)
- South Carolina State Documents Depository (2)
- Universidad de Alicante (3)
- Universidad del Rosario, Colombia (3)
- Universidad Politécnica de Madrid (17)
- Universidade Complutense de Madrid (1)
- Universidade de Lisboa - Repositório Aberto (1)
- Universidade Federal de Uberlândia (1)
- Universidade Federal do Pará (1)
- Universidade Federal do Rio Grande do Norte (UFRN) (1)
- Universitätsbibliothek Kassel, Universität Kassel, Germany (2)
- Université de Montréal, Canada (1)
- University of Michigan (53)
- University of Queensland eSpace - Australia (12)
- University of Washington (7)
- WestminsterResearch - UK (1)
- Worcester Research and Publications - Worcester Research and Publications - UK (2)
Resumo:
Chromosome microarray analysis is a powerful diagnostic tool and is being used as a first-line approach to detect chromosome imbalances associated with intellectual disability, dysmorphic features and congenital abnormalities. This test enables the identification of new copy number variants (CNVs) and their association with new microdeletion/microduplication syndromes in patients previously without diagnosis. We report the case of a 7 year-old female with moderate intellectual disability, severe speech delay and auto and hetero aggressivity with a previous 45,XX,der(13;14)mat karyotype performed at a younger age. Affymetrix CytoScan 750K chromosome microarray analysis was performed detecting a 1.77 Mb deletion at 3p26.3, encompassing 2 OMIM genes, CNTN6 and CNTN4. These genes play an important role in the formation, maintenance, and plasticity of functional neuronal networks. Deletions or mutations in CNTN4 gene have been implicated in intellectual disability and learning disabilities. Disruptions or deletions in the CNTN6 gene have been associated with development delay and other neurodevelopmental disorders. The haploinsufficiency of these genes has been suggested to participate to the typical clinical features of 3p deletion syndrome. Nevertheless inheritance from a healthy parent has been reported, suggesting incomplete penetrance and variable phenotype for this CNV. We compare our patient with other similar reported cases, adding additional value to the phenotype-genotype correlation of deletions in this region.