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by Mefford, Heather C and Sharp, Andrew J and Baker, Carl and Itsara, Andy and Jiang, Zhaoshi and Buysse, Karen and Huang, Shuwen and Maloney, Viv K and Crolla, John A and Baralle, Diana and Collins, Amanda and Mercer, Catherine and Norga, Koen and de Ravel, Thomy and Devriendt, Koen and Bongers, Ernie M.H.F and de Leeuw, Nicole and Reardon, William and Gimelli, Giorgio and Gimelli, Stefania and Bena, Frederique and Hennekam, Raoul C and Male, Alison and Gaunt, Lorraine and Clayton-Smith, Jill and Simonic, Ingrid and Park, Soo Mi and Mehta, Sarju G and Nik-Zainal, Serena and Woods, C. Geoffrey and Firth, Helen V and Parkin, Georgina and Fichera, Marco and Reitano, Santina and Giudice, Mariangela Lo and Li, Kelly E and Casuga, Iris and Broomer, Adam and Conrad, Bernard and Schwerzmann, Markus and Räber, Lorenz and Gallati, Sabina and Striano, Pasquale and Coppola, Antonietta and Tolmie, John L and Tobias, Edward S and Lilley, Chris and Armengol, Lluis and Spysschaert, Yves and Verloo, Patrick and De Coene, Anja and Goossens, Linde and Mortier, Geert and Speleman, Frank and van Binsbergen, Ellen and Nelen, Marcel R and Hochstenbach, Ron and Poot, Martin and Gallagher, Louise and Gill, Michael and McClellan, Jon and King, Mary-Claire and Regan, Regina and Skinner, Cindy and Stevenson, Roger E and Antonarakis, Stylianos E and Chen, Caifu and Estivill, Xavier and Menten, Björn and Gribble, Susan and Schwartz, Charles E and Schwartz, Stuart and Sutcliffe, James S and Walsh, Tom and Knight, Samantha J.L and Sebat, Jonathan and Romano, Corrado and Veltman, Joris A and de Vries, Bert B.A and Vermeesch, Joris R and Barber, John C.K and Willatt, Lionel and Tassabehji, May and Eichler, Evan E
The New England Journal of Medicine, ISSN 0028-4793, 10/2008, Volume 359, Issue 16, pp. 1685 - 1699
This study shows an association between a broad range of phenotypes and either deletion or duplication of a genomic segment at chromosome 1q21.1, suggesting a... 
Genotype & phenotype | Pediatrics | Pathology | Molecular biology | Chromosomes | Index Medicus | Abridged Index Medicus
Journal Article
Nature Genetics, ISSN 1061-4036, 2012, Volume 44, Issue 4, pp. 440 - 444, S1-2
Journal Article
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 6/2013, Volume 110, Issue 24, pp. 9856 - 9861
Familial exudative vitreoretinopathy (FEVR) is a genetically heterogeneous disorder characterized by abnormal vascularization of the peripheral retina, which... 
Cardiovascular system | Exome | COS cells | Phenotypes | Blood vessels | Genetic mutation | Embryos | Sequencing | Zinc | Mutant proteins | SET DOMAIN | ZINC FINGERS | GENE | FZD4 | IKAROS | MULTIDISCIPLINARY SCIENCES | NORRIE DISEASE | LRP5 | MUTATIONS | IDENTIFICATION | LOCUS | Humans | Cercopithecus aethiops | Molecular Sequence Data | Family Health | Male | Gene Expression Profiling | Zebrafish - embryology | Gene Knockdown Techniques | DNA-Binding Proteins - metabolism | Cell Nucleus - metabolism | DNA Mutational Analysis | Female | Retinal Vessels - embryology | Amino Acid Sequence | Retinal Vessels - metabolism | Animals, Genetically Modified | Zebrafish Proteins - metabolism | Vitreoretinopathy, Proliferative - pathology | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Reverse Transcriptase Polymerase Chain Reaction | Vitreoretinopathy, Proliferative - metabolism | Zebrafish - genetics | Sequence Homology, Amino Acid | Transcription Factors - metabolism | Vitreoretinopathy, Proliferative - genetics | Animals | Pedigree | Zebrafish - metabolism | Luminescent Proteins - genetics | Mutation | Zebrafish Proteins - genetics | COS Cells | Microscopy, Fluorescence | Luminescent Proteins - metabolism | Gene mutations | Zebra fish | Physiological aspects | Genetic aspects | Research | Nucleotide sequencing | Retinal diseases | Health aspects | DNA sequencing | Retina | Zebrafish | Kinases | Cells | Deoxyribonucleic acid--DNA | Index Medicus | Biological Sciences
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 11/2008, Volume 45, Issue 11, pp. 710 - 720
Journal Article
Nature Genetics, ISSN 1061-4036, 2010, Volume 42, Issue 12, pp. 1109 - 1112
The per-generation mutation rate in humans is high. De novo mutations may compensate for allele loss due to severely reduced fecundity in common... 
NEUROPATHY | GENE | DYNEIN | GENETICS & HEREDITY | MICE | MUTATIONS | GENOME | DEAF-1 | Base Sequence | Humans | Exons - genetics | Female | Male | Mutation - genetics | Sequence Analysis, DNA | Intellectual Disability - genetics | Genetic aspects | Research | Gene mutations | Health aspects | Mental retardation | Risk factors | Studies | Candidates | Disease | Genetics | Mutation | Experiments | Chromosomes | Index Medicus
Journal Article