1 resultado para Reciprocal patchiness of resources
em Université de Lausanne, Switzerland
Filtro por publicador
- KUPS-Datenbank - Universität zu Köln - Kölner UniversitätsPublikationsServer (1)
- Repository Napier (1)
- Aberystwyth University Repository - Reino Unido (3)
- Academic Research Repository at Institute of Developing Economies (1)
- AMS Tesi di Dottorato - Alm@DL - Università di Bologna (10)
- AMS Tesi di Laurea - Alm@DL - Università di Bologna (2)
- Aquatic Commons (39)
- Archimer: Archive de l'Institut francais de recherche pour l'exploitation de la mer (1)
- Archive of European Integration (24)
- Archivo Digital para la Docencia y la Investigación - Repositorio Institucional de la Universidad del País Vasco (11)
- Aston University Research Archive (37)
- Avian Conservation and Ecology - Eletronic Cientific Hournal - Écologie et conservation des oiseaux: (3)
- Biblioteca de Teses e Dissertações da USP (1)
- Biblioteca Digital da Produção Intelectual da Universidade de São Paulo (8)
- Biblioteca Digital da Produção Intelectual da Universidade de São Paulo (BDPI/USP) (1)
- Biblioteca Digital de la Universidad Católica Argentina (4)
- Biblioteca Digital de Teses e Dissertações Eletrônicas da UERJ (41)
- BORIS: Bern Open Repository and Information System - Berna - Suiça (27)
- Boston University Digital Common (2)
- Brock University, Canada (3)
- Bucknell University Digital Commons - Pensilvania - USA (3)
- Bulgarian Digital Mathematics Library at IMI-BAS (3)
- CaltechTHESIS (2)
- Cambridge University Engineering Department Publications Database (9)
- CentAUR: Central Archive University of Reading - UK (34)
- Chinese Academy of Sciences Institutional Repositories Grid Portal (13)
- CiencIPCA - Instituto Politécnico do Cávado e do Ave, Portugal (1)
- Cochin University of Science & Technology (CUSAT), India (7)
- Comissão Econômica para a América Latina e o Caribe (CEPAL) (23)
- CORA - Cork Open Research Archive - University College Cork - Ireland (3)
- Corvinus Research Archive - The institutional repository for the Corvinus University of Budapest (5)
- Dalarna University College Electronic Archive (4)
- Deakin Research Online - Australia (78)
- DI-fusion - The institutional repository of Université Libre de Bruxelles (3)
- Digital Archives@Colby (1)
- Digital Commons - Michigan Tech (3)
- Digital Commons @ DU | University of Denver Research (2)
- Digital Commons at Florida International University (9)
- DigitalCommons - The University of Maine Research (1)
- DigitalCommons@The Texas Medical Center (9)
- DigitalCommons@University of Nebraska - Lincoln (1)
- Doria (National Library of Finland DSpace Services) - National Library of Finland, Finland (1)
- DRUM (Digital Repository at the University of Maryland) (2)
- Duke University (3)
- Ecology and Society (1)
- eResearch Archive - Queensland Department of Agriculture; Fisheries and Forestry (9)
- Escola Superior de Educação de Paula Frassinetti (1)
- FUNDAJ - Fundação Joaquim Nabuco (1)
- Glasgow Theses Service (2)
- Greenwich Academic Literature Archive - UK (1)
- Helda - Digital Repository of University of Helsinki (27)
- Illinois Digital Environment for Access to Learning and Scholarship Repository (1)
- Indian Institute of Science - Bangalore - Índia (44)
- Institutional Repository of Leibniz University Hannover (1)
- Instituto Politécnico de Bragança (1)
- Instituto Politécnico do Porto, Portugal (2)
- Iowa Publications Online (IPO) - State Library, State of Iowa (Iowa), United States (1)
- Memoria Académica - FaHCE, UNLP - Argentina (3)
- Memorial University Research Repository (1)
- National Center for Biotechnology Information - NCBI (12)
- Plymouth Marine Science Electronic Archive (PlyMSEA) (3)
- Portal de Revistas Científicas Complutenses - Espanha (2)
- Publishing Network for Geoscientific & Environmental Data (6)
- QUB Research Portal - Research Directory and Institutional Repository for Queen's University Belfast (38)
- Queensland University of Technology - ePrints Archive (164)
- Repositorio Académico de la Universidad Nacional de Costa Rica (3)
- Repositório Alice (Acesso Livre à Informação Científica da Embrapa / Repository Open Access to Scientific Information from Embrapa) (3)
- Repositório Científico da Universidade de Évora - Portugal (4)
- Repositório digital da Fundação Getúlio Vargas - FGV (9)
- 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" (24)
- RUN (Repositório da Universidade Nova de Lisboa) - FCT (Faculdade de Cienecias e Technologia), Universidade Nova de Lisboa (UNL), Portugal (3)
- SAPIENTIA - Universidade do Algarve - Portugal (4)
- School of Medicine, Washington University, United States (2)
- Scielo España (1)
- Universidad de Alicante (5)
- Universidad del Rosario, Colombia (4)
- Universidad Politécnica de Madrid (16)
- Universidade Complutense de Madrid (3)
- Universidade de Lisboa - Repositório Aberto (1)
- Universidade Federal do Pará (2)
- Universitat de Girona, Spain (1)
- Universitätsbibliothek Kassel, Universität Kassel, Germany (4)
- Université de Lausanne, Switzerland (1)
- Université de Montréal, Canada (7)
- Université Laval Mémoires et thèses électroniques (1)
- University of Canberra Research Repository - Australia (1)
- University of Michigan (23)
- University of Queensland eSpace - Australia (10)
- University of Southampton, United Kingdom (4)
- University of Washington (4)
- WestminsterResearch - UK (1)
- Worcester Research and Publications - Worcester Research and Publications - UK (1)
Resumo:
We report 24 unrelated individuals with deletions and 17 additional cases with duplications at 10q11.21q21.1 identified by chromosomal microarray analysis. The rearrangements range in size from 0.3 to 12 Mb. Nineteen of the deletions and eight duplications are flanked by large, directly oriented segmental duplications of >98% sequence identity, suggesting that nonallelic homologous recombination (NAHR) caused these genomic rearrangements. Nine individuals with deletions and five with duplications have additional copy number changes. Detailed clinical evaluation of 20 patients with deletions revealed variable clinical features, with developmental delay (DD) and/or intellectual disability (ID) as the only features common to a majority of individuals. We suggest that some of the other features present in more than one patient with deletion, including hypotonia, sleep apnea, chronic constipation, gastroesophageal and vesicoureteral refluxes, epilepsy, ataxia, dysphagia, nystagmus, and ptosis may result from deletion of the CHAT gene, encoding choline acetyltransferase, and the SLC18A3 gene, mapping in the first intron of CHAT and encoding vesicular acetylcholine transporter. The phenotypic diversity and presence of the deletion in apparently normal carrier parents suggest that subjects carrying 10q11.21q11.23 deletions may exhibit variable phenotypic expressivity and incomplete penetrance influenced by additional genetic and nongenetic modifiers.