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Journal of Medical Genetics, ISSN 0022-2593, 08/2016, Volume 53, Issue 8, pp. 511 - 522
Objective We aimed to delineate the neurodevelopmental spectrum associated with SYNGAP1 mutations and to investigate genotype-phenotype correlations. Methods... 
NMDA RECEPTOR | AUTISM | SEIZURES | DE-NOVO MUTATIONS | MENTAL-RETARDATION | SPEECH IMPAIRMENT | GENETICS & HEREDITY | SYNGAP1 CAUSE | GTPASE-ACTIVATING PROTEIN | SYNAPTIC PLASTICITY | HAPLOINSUFFICIENCY | Care and treatment | Epilepsy | Genetics | Nervous system | Degeneration | Research | Mental retardation | Patients | Health aspects | Life Sciences | Neurons and Cognition
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 02/2016, Volume 24, Issue 2, pp. 228 - 236
Journal Article
Nature Genetics, ISSN 1061-4036, 09/2013, Volume 45, Issue 9, pp. 1061 - 1066
Journal Article
Journal of Pediatrics, The, ISSN 0022-3476, 2017, Volume 185, pp. 160 - 166.e1
Journal Article
PLoS Genetics, ISSN 1553-7390, 09/2014, Volume 10, Issue 9, pp. e1004580 - e1004580
Journal Article
Nature Communications, ISSN 2041-1723, 05/2015, Volume 6, Issue 1, pp. 7095 - 7095
Journal Article
Epilepsia, ISSN 0013-9580, 09/2012, Volume 53, Issue 9, pp. 1526 - 1538
Journal Article
Science, ISSN 0036-8075, 4/2011, Volume 332, Issue 6026, pp. 240 - 243
The spliceosome, a ribonucleoprotein complex that includes proteins and small nuclear RNAs (snRNAs), catalyzes RNA splicing through intron excision and exon... 
Messenger RNA | Splicing | Introns | Genes | REPORTS | Cell lines | Fibroblasts | Small nuclear RNA | Spliceosomes | Genetic mutation | Sequencing | U4 SNRNA | RNA SURVEILLANCE | PROTEIN | NONSENSE-MEDIATED DECAY | INTRONS | MULTIDISCIPLINARY SCIENCES | SPLICEOSOME | U12-TYPE | INBREEDING COEFFICIENT | DWARFISM | Microcephaly - genetics | Microtubule-Associated Proteins - genetics | Spliceosomes - genetics | Humans | Child, Preschool | Fetal Growth Retardation - genetics | Infant | Male | Chromosomes, Human, Pair 2 - genetics | Spliceosomes - metabolism | RNA Splicing | Dwarfism - metabolism | Osteochondrodysplasias - genetics | RNA, Small Nuclear - genetics | Female | Nucleic Acid Conformation | Inverted Repeat Sequences | Cell Line | RNA Splice Sites | Microcephaly - metabolism | Fetal Growth Retardation - metabolism | Dwarfism - genetics | Point Mutation | Base Pairing | Pedigree | RNA, Small Nuclear - chemistry | RNA, Small Nuclear - metabolism | Osteochondrodysplasias - metabolism | Genetic aspects | Properties | Developmental bone diseases | RNA splicing | Mental disorders | Ribonucleic acid--RNA | Developmental disabilities | Index Medicus | Microcephaly | Chromosomes, Human, Pair 2 | Dwarfism | Life Sciences | Osteochondrodysplasias | Computer Science | RNA, Small Nuclear | Modeling and Simulation | Fetal Growth Retardation | Microtubule-Associated Proteins
Journal Article
by Jacquemont, S and Reymond, A and Zufferey, F and Harewood, L and Walters, R.G and Kutalik, Z and Martinet, D and Shen, Y and Valsesia, A and Beckmann, N.D and Thorleifsson, G and Belfiore, M and Bouquillon, S and Campion, D and Leeuw, N. de and Vries, L.B.A. de and Esko, T and Fernandez, B.A and Fernandez-Aranda, F and Fernandez-Real, J.M and Gratacos, M and Guilmatre, A and Hoyer, J and Jarvelin, M.R and Kooy, R.F and Kurg, A and Caignec, C. Le and Mannik, K and Platt, O.S and Sanlaville, D and Haelst, M.M. van and Villatoro Gomez, S and Walha, F and Wu, B.L and Yu, Y and Aboura, A and Addor, M.C and Alembik, Y and Antonarakis, S.E and Arveiler, B and Barth, M and Bednarek, N and Bena, F and Bergmann, S and Beri, M and Bernardini, L and Blaumeiser, B and Bonneau, D and Bottani, A and Boute, O and Brunner, H.G and Cailley, D and Callier, P and Chiesa, J and Chrast, J and Coin, L and Coutton, C and Cuisset, J.M and Cuvellier, J.C and David, A and Freminville, B. de and Delobel, B and Delrue, M.A and Demeer, B and Descamps, D and Didelot, G and Dieterich, K and Disciglio, V and Doco-Fenzy, M and nat, S and Duban-Bedu, B and Dubourg, C and El-Sayed Moustafa, J.S and Elliott, P and Faas, B.H.W and Faivre, L and Faudet, A and Fellmann, F and Ferrarini, A and Fisher, R and Flori, E and Forer, L and Gaillard, D and Gerard, M and Gieger, C and Gimelli, S and Gimelli, G and Grabe, H.J and Guichet, A and Guillin, O and Hartikainen, A.L and Heron, D and Hippolyte, L and Holder, M and Homuth, G and Isidor, B and Jaillard, S and Jaros, Z and Jimenez-Murcia, S and Helas, G.J and ...
Nature, ISSN 0028-0836, 2011, Volume 478, Issue 7367, pp. 97 - 102
Both obesity and being underweight have been associated with increased mortality. Underweight, defined as a body mass index (BMI) DEPENDENT PROBE AMPLIFICATION | FAILURE-TO-THRIVE | METABOLIC SYNDROME | RELATIVE QUANTIFICATION | SNP GENOTYPING DATA | HIDDEN-MARKOV MODEL | MULTIDISCIPLINARY SCIENCES | BODY-MASS INDEX | TIME QUANTITATIVE PCR | COPY NUMBER VARIATION | CIRCULAR BINARY SEGMENTATION | Humans | Middle Aged | Child, Preschool | RNA, Messenger - analysis | Head - anatomy & histology | Infant | Male | Developmental Disabilities - genetics | Gene Expression Profiling | North America | Obesity - genetics | Case-Control Studies | Young Adult | Mental Disorders - genetics | Aging | Gene Duplication - genetics | Adult | Female | Transcription, Genetic | Energy Metabolism - genetics | Child | Infant, Newborn | Chromosomes, Human, Pair 16 - genetics | Body Mass Index | Gene Dosage - genetics | Genetic Predisposition to Disease - genetics | Genome-Wide Association Study | Europe | RNA, Messenger - genetics | Mutation - genetics | Body Height - genetics | Thinness - genetics | Phenotype | Comparative Genomic Hybridization | Adolescent | Heterozygote | Aged | Cohort Studies | Sequence Deletion - genetics | Obesity | Chromosome mapping | Usage | Genetic variation | Genetic aspects | Cognition disorders | Research | Risk factors | Schizophrenia | Gender | Behavior | Gene expression | Bias | Index Medicus | Life Sciences | Human health and pathology | Genetics | Endocrinology and metabolism | Gene Duplication | Developmental Disabilities | Sequence Deletion | Thinness | genetics | Genetic Predisposition to Disease | Head | Gene Dosage | analysis | Energy Metabolism | Mental Disorders | Chromosomes, Human, Pair 16 | Body Height | Mutation | anatomy & histology | RNA, Messenger
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 12/2011, Volume 48, Issue 12, pp. 825 - 830
Journal Article