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< Home < Alle < Mmu < 24 Quellen

QuelleAutorHrsg.TitelVerlagJahrLit.-V.FNFrags.
Mmu/Bejjani and Shaffer 2006Bassem A. Bejjani and Lisa G. Shaffer-Application of Array-Based Comparative Genomic Hybridization to Clinical Diagnostics-2006yesyes2
Mmu/Bijlsma et al 2009E.K. Bijlsma, A.C.J. Gijsbers, J.H.M. Schuurs-Hoeijmakers, A. van Haeringen, D.E. Fransen van de Putte, B.-M. Anderlid, J. Lundin, P. Lapunzina, L.A. Pérez Jurado, B. Delle Chiaie, B. Loeys, B. Menten, A. Oostra, H. Verhelst, D.J. Amor, D.L. Bruno, A.J. van Essen, R. Hordijk, B. Sikkema-Raddatz, K.T. Verbruggen, M.C.J. Jongmans, R. Pfundt, H.M. Reeser, M.H. Breuning, C.A.L. Ruivenkamp-Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals-2009nono1
Mmu/Bremer et al 2010Anna Bremer, MaiBritt Giacobini, Mats Eriksson, Peter Gustavsson, Viviann Nordin, Elisabeth Fernell, Christopher Gillberg, Ann Nordgren, Åsa Uppströmer, Britt-Marie Anderlid, Magnus Nordenskjöld, Jacqueline Schoumans-Copy Number Variation Characteristics in Subpopulations of Patients With Autism Spectrum Disorders-2010nono1
Mmu/Bruno et al 2010Damien L Bruno, Britt-Marie Anderlid, Anna Lindstrand, Conny van Ravenswaaij-Arts, Devika Ganesamoorthy, Johanna Lundin, Christa Lese Martin, Jessica Douglas, Catherine Nowak, Margaret P Adam, R Frank Kooy, Nathalie Van der Aa, Edwin Reyniers, Geert Vandeweyer, Irene Stolte-Dijkstra, Trijnie Dijkhuizen, Alison Yeung, Martin Delatycki, Birgit Borgström, Lena Thelin, Carlos Cardoso, Bregje van Bon, Rolph Pfundt, Bert B A de Vries, Anders Wallin, David J Amor, Paul A James, Howard R Slater, Jacqueline Schoumans-Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes-2010yesyes1
Mmu/Canales Walz 2011Cesar P Canales and Katherina Walz-Copy number variation and susceptibility to complex traits-2011yesyes1
Mmu/Girirajan and Eichler 2010Santhosh Girirajan and Evan E. Eichler-Phenotypic variability and genetic susceptibility to genomic disorders-2010yesyes3
Mmu/Hu et al 2011Valerie W. Hu, Anjene Addington, Alexander Hyman-Novel Autism Subtype-Dependent Genetic Variants Are Revealed by Quantitative Trait and Subphenotype Association Analyses of Published GWAS Data-2011yesyes1
Mmu/Kalman and Vitale 2009Bernadette Kalman, Emilia Vitale-Structural Chromosomal Variations in Neurological Diseases-2009nono2
Mmu/Katzaki 2009Eleni Katzaki-Clinical Impact of Contemporary Molecular Cytogenetics-2009nono10
Mmu/Lupski and Stankiewicz 2005James R. Lupski, Pawel Stankiewicz-Genomic Disorders: Molecular Mechanisms for Rearrangements and Conveyed Phenotypes-2005yesyes2
Mmu/Miller et al 2010David T. Miller, Margaret P. Adam, Swaroop Aradhya, Leslie G. Biesecker, Arthur R. Brothman, Nigel P. Carter, Deanna M. Church, John A. Crolla, Evan E. Eichler, Charles J. Epstein, W. Andrew Faucett, Lars Feuk, Jan M. Friedman, Ada Hamosh, Laird Jackson, Erin B. Kaminsky, Klaas Kok, Ian D. Krantz, Robert M. Kuhn, Charles Lee, James M. Ostell, Carla Rosenberg, Stephen W. Scherer, Nancy B. Spinner, Dimitri J. Stavropoulos, James H. Tepperberg, Erik C. Thorland, Joris R. Vermeesch, Darrel J. Waggoner, Michael S. Watson, Christa Lese Martin, David H. Ledbetter-Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies-2010nono1
Mmu/Morcel et al 2011Karine Morcel, Tanguy Watrin, Laurent Pasquier, Lucie Rochard, Cédric Le Caignec, Christèle Dubourg, Philippe Loget, Bernard-Jean Paniel, Sylvie Odent, Véronique David, Isabelle Pellerin, Claude Bendavid, Daniel Guerrier-Utero-vaginal aplasia (Mayer-Rokitansky-Küster- Hauser syndrome) associated with deletions in known DiGeorge or DiGeorge-like loci-2011yesyes1
Mmu/Neill et al 2010Nicholas J Neill, Beth S Torchia, Bassem A Bejjani, Lisa G Shaffer, Blake C Ballif-Comparative analysis of copy number detection by whole-genome BAC and oligonucleotide array CGH-2010yesyes1
Mmu/Papa 2010Filomena Tiziana Papa-Interpretation of molecular imbalances detected by array-CGH analysis-2010nono15
Mmu/Philip Bassett 2011Nicole Philip and Anne Bassett-Cognitive, Behavioural and Psychiatric Phenotype in 22q11.2 Deletion Syndrome-2011nono6
Mmu/Roos et al 2009L Roos, A E Jønch, S. Kjaergaard, K Taudorf, H Simonsen, B Hamborg-Petersen, K Brøndum-Nielsen, M Kirchhoff-A new microduplication syndrome encompassing the region of the Miller–Dieker (17p13 deletion) syndrome-2009yesyes1
Mmu/Sha et al 2009Bao-Yong Sha, Tie-Lin Yang, Lan-Juan Zhao, Xiang-Ding Chen, Yan Guo, Yuan Chen, Feng Pan, Zhi-Xin Zhang, Shan-Shan Dong, Xiang-Hong Xu, Hong-Wen Deng-Genome-wide association study suggested copy number variation may be associated with body mass index in the Chinese population-2009yesyes1
Mmu/Sharp 2008Andrew J. Sharp-Emerging themes and new challenges in defining the role of structural variation in human disease.-2008nono1
Mmu/Shchelochkov et al 2009Oleg A. Shchelochkov, S.W. Cheung, J.R. Lupski-Genomic and Clinical Characteristics of Microduplications in Chromosome 17-2010nono3
Mmu/Shinawi and Cheung 2008Marwan Shinawi and Sau Wai Cheung-The array CGH and its clinical applicationsElsevier2008yesyes3
Mmu/Stankiewicz et al 2012Paweł Stankiewicz, Shashikant Kulkarni, Avinash V. Dharmadhikari, Srirangan Sampath, Samarth S. Bhatt, Tamim H. Shaikh, Zhilian Xia1, Amber N. Pursley, M. Lance Cooper, Marwan Shinawi, Alex R. Paciorkowski, Dorothy K. Grange, Michael J. Noetzel, Scott Saunders, Paul Simons9, Marshall Summar, Brendan Lee, Fernando Scaglia, Florence Fellmann1, Danielle Martinet1, Jacques S. Beckmann, Alexander Asamoah, Kathryn Platky, Susan Sparks, Ann S. Martin, Suneeta Madan- Khetarpal, Jacqueline Hoover, Livija Medne, Carsten G. Bonnemann, John B. Moeschler, Stephanie E. Vallee, Sumit Parikh, Polly Irwin, Victoria P. Dalzell, Wendy E. Smith, Valerie C. Banks, David B. Flannery, Carolyn M. Lovell, Gary A. Bellus, Kathryn Golden-Grant, Jerome L. Gorski, Jennifer L. Kussmann, Tracy L. McGregor, Rizwan Hamid, Jean Pfotenhauer, Blake C. Ballif, Chad A. Shaw, Sung- Hae L. Kang, Carlos A. Bacino, Ankita Patel, Jill A. Rosenfeld, Sau Wai Cheung, Lisa G. Shaffer-Recurrent Deletions and Reciprocal Duplications of 10q11.21q11.23 Including CHAT and SLC18A3 are Likely Mediated by Complex Low-Copy Repeats-2012yesno3
Mmu/Walsh and Bracken 2011Kyle M. Walsh, Michael B. Bracken-Copy number variation in the dosage-sensitive 16p11.2 interval accounts for only a small proportion of autism incidence: A systematic review and meta-analysis-2011yesyes2
Mmu/Walters et al 2010R. G. Walters, S. Jacquemont, A. Valsesia, A. J. de Smith, D. Martinet, J. Andersson, M. Falchi, F. Chen, J. Andrieux, S. Lobbens, B. Delobel, F. Stutzmann, J. S. El-Sayed Moustafa, J.-C. Chèvre, C. Lecoeur, V. Vatin, S. Bouquillon J. L. Buxton, O. Boute, M. Holder-Espinasse, J.-M. Cuisset, M.-P. Lemaitre, A.-E. Ambresin, A. Brioschi, M. Gaillard, V. Giusti, F. Fellmann, A. Ferrarini, N. Hadjikhani, D. Campion, A. Guilmatre, A. Goldenberg, N. Calmels, J.-L. Mandel, C. Le Caignec, A. David, B. Isidor, M.-P. Cordier, S. Dupuis-Girod, A. Labalme, D. Sanlaville, M. Béri-Dexheimer, P. Jonveaux, B. Leheup, K. Õunap, E. G. Bochukova, E. Henning, J. Keogh, R. J. Ellis, K. D. MacDermot, M. M. van Haelst, C. Vincent-Delorme, G. Plessis, R. Touraine, A. Philippe, V. Malan, M. Mathieu-Dramard, J. Chiesa, B. Blaumeiser, R. F. Kooy, R. Caiazzo, M. Pigeyre, B. Balkau, R. Sladek, S. Bergmann, V. Mooser, D. Waterworth, A. Reymond, P. Vollenweider, G. Waeber, A. Kurg, P. Palta, T. Esko, A. Metspalu, M. Nelis, P. Elliott, A.-L. Hartikainen, M. I. McCarthy, L. Peltonen, L. Carlsson, P. Jacobson, L. Sjöström, N. Huang, M. E. Hurles, S. O’Rahilly, I. S. Farooqi, K. Männik, M.-R. Jarvelin, F. Pattou, D. Meyre, A. J. Walley, L. J. M. Coin, A. I. F. Blakemore, P. Froguel, and J. S. Beckmann-A new highly penetrant form of obesity due to deletions on chromosome 16p11.2-2010yesyes2
Mmu/Zhang et al 2009Feng Zhang, Mehrdad Khajavi, Anne M. Connolly, Charles F. Towne, Sat Dev Batish, and James R. Lupski-The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans-2009yesyes1

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