X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
life sciences (100) 100
genetics (95) 95
humans (92) 92
human genetics (90) 90
[sdv.gen.gh]life sciences [q-bio]/genetics/human genetics (73) 73
genetics & heredity (70) 70
male (63) 63
female (50) 50
mutation (49) 49
index medicus (45) 45
intellectual disability - genetics (45) 45
child (35) 35
intellectual disability (32) 32
mesh: humans (31) 31
child, preschool (29) 29
adolescent (27) 27
genetic aspects (27) 27
molecular sequence data (26) 26
mesh: male (25) 25
gene (24) 24
pedigree (24) 24
adult (23) 23
animals (23) 23
base sequence (23) 23
mesh: female (23) 23
biochemistry & molecular biology (22) 22
genes (22) 22
mental retardation (22) 22
research (22) 22
chromosome mapping (21) 21
phenotype (21) 21
syndrome (18) 18
chromosome deletion (17) 17
infant (17) 17
mesh: intellectual disability (17) 17
amino acid sequence (16) 16
brain (16) 16
mental-retardation (16) 16
mesh: child (16) 16
dna (15) 15
expression (15) 15
in situ hybridization, fluorescence (14) 14
proteins (14) 14
analysis (13) 13
article (13) 13
gene expression (13) 13
intellectual disabilities (13) 13
mice (13) 13
mutations (13) 13
x chromosome (13) 13
autism (12) 12
comparative genomic hybridization (11) 11
gene mutations (11) 11
genetic linkage (11) 11
identification (11) 11
mesh: base sequence (11) 11
abnormalities, multiple - genetics (10) 10
genetic disorders (10) 10
mesh: molecular sequence data (10) 10
mutation - genetics (10) 10
phenotypes (10) 10
intellectual disability - diagnosis (9) 9
karyotyping (9) 9
magnetic resonance imaging (9) 9
mesh: adolescent (9) 9
mesh: child, preschool (9) 9
mesh: chromosome mapping (9) 9
mesh: in situ hybridization, fluorescence (9) 9
mesh: mutation (9) 9
mesh: syndrome (9) 9
neurons (9) 9
nuclear proteins - genetics (9) 9
oligonucleotide array sequence analysis (9) 9
transcription factors (9) 9
young adult (9) 9
cells, cultured (8) 8
diagnosis (8) 8
genotype (8) 8
health aspects (8) 8
mesh: adult (8) 8
neurosciences (8) 8
polymerase chain reaction (8) 8
protein (8) 8
report (8) 8
saccharomyces cerevisiae - genetics (8) 8
chromosomes (7) 7
dna - genetics (7) 7
genetic predisposition to disease (7) 7
genetic testing (7) 7
genotype & phenotype (7) 7
hybridization (7) 7
intellectual disability - pathology (7) 7
mesh: oligonucleotide array sequence analysis (7) 7
mesh: pedigree (7) 7
microbiology (7) 7
nuclear proteins (7) 7
patients (7) 7
rats (7) 7
saccharomyces cerevisiae (7) 7
abnormalities (6) 6
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Pediatrics, ISSN 0031-4005, 08/2008, Volume 122, Issue 2, pp. e376 - e382
Journal Article
Journal Article
Nature Genetics, ISSN 1061-4036, 11/2012, Volume 44, Issue 11, pp. 1255 - 1259
Journal Article
Science, ISSN 0036-8075, 8/2011, Volume 333, Issue 6046, pp. 1161 - 1163
MED23 is a subunit of the Mediator complex, a key regulator of protein-coding gene expression. Here, we report a missense mutation (p. R617Q) in MED23 that... 
Chromatin | Intellectual disability | Transcriptional activation | rev genes | Immediate early genes | Genes | REPORTS | Cell lines | Fibroblasts | Gene expression | Genetic mutation | RECRUITMENT | ACTIVATION | JUN | MECHANISM | PATHWAY | TFIIH | MULTIDISCIPLINARY SCIENCES | CHROMATIN MODIFICATION | PREINITIATION COMPLEX | TRANSCRIPTIONAL REGULATION | MEDIATOR COMPLEX | Promoter Regions, Genetic | Transcription Factor 4 | Humans | Transcriptional Activation | Cells, Cultured | Gene Expression Regulation | Male | Mediator Complex - genetics | Mutation, Missense | Intellectual Disability - genetics | Transcription Factors - metabolism | Chromatin Immunoprecipitation | Pedigree | ets-Domain Protein Elk-1 - metabolism | Genes, fos | Early Growth Response Protein 1 - genetics | Basic Helix-Loop-Helix Leucine Zipper Transcription Factors - metabolism | Female | Genes, Immediate-Early | Histones - metabolism | Genes, jun | Intelligence levels | Gene mutations | Intellect | Physiological aspects | DNA binding proteins | Research | Proteins | Mutagenesis | Cognition & reasoning | Molecular biology | Neurological disorders | ets-Domain Protein Elk-1 | Life Sciences | Basic Helix-Loop-Helix Leucine Zipper Transcription Factors | Early Growth Response Protein 1 | Histones | Genetics | Transcription Factors | Mediator Complex | Intellectual Disability | Human genetics
Journal Article
Neuroscience and Biobehavioral Reviews, ISSN 0149-7634, 12/2016, Volume 71, pp. 729 - 738
Autism spectrum disorders (ASD) are heritable neurodevelopmental conditions characterized by impairment in social interaction and communication and restricted,... 
Autism spectrum disorders | Biomarkers | microRNA | Epigenetic | TARGET | NEUROSCIENCES | MECP2 | DE-NOVO MUTATIONS | MESSENGER-RNA | GENE | BIOGENESIS | SEED REGION | MOUSE MODEL | BEHAVIORAL SCIENCES | MENTAL-RETARDATION PROTEIN | EXPRESSION | Autism Spectrum Disorder | Neuronal Plasticity | Humans | MicroRNAs | Autism | Deregulation | MicroRNA | Epigenetic inheritance | Genetic transcription | Social aspects
Journal Article
Clinical Genetics, ISSN 0009-9163, 09/2019, Volume 96, Issue 3, pp. 254 - 260
Journal Article
Nature Communications, ISSN 2041-1723, 07/2017, Volume 8, Issue 1, p. 15910
Journal Article
Nature Neuroscience, ISSN 1097-6256, 11/2015, Volume 18, Issue 12, pp. 1731 - 1736
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 03/2016, Volume 98, Issue 3, pp. 541 - 552
Journal Article