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Journal of Human Genetics, ISSN 1434-5161, 07/2018, Volume 63, Issue 7, pp. 847 - 850
Intellectual disability (ID) and autism spectrum disorders are complex neurodevelopmental disorders occurring among all ethnic and socioeconomic groups.... 
DOUBLECORTIN | PROTEIN | GENE | GENETICS & HEREDITY | KIAA2022 | MUTATIONS | EXPRESSION | BRAIN | Autism | Genetic counseling | Intellectual disabilities | Epilepsy
Journal Article
European Journal of Medical Genetics, ISSN 1769-7212, 04/2019, Volume 62, Issue 4, pp. 239 - 242
Proper function of GABAergic synapses depends upon the postsynaptic compartment anchoring of neurotransmitter receptors to the membrane by gephyrin and... 
Collybistin | Microdeletion | Autism | ARHGEF9 | X-chromosome inactivation | INTELLECTUAL DISABILITY | GENE | GENETICS & HEREDITY | KIAA2022 | MUTATIONS | EPILEPSY | Medical colleges | Analysis | Medical genetics | Genetic research | GABA | Seizures (Medicine)
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 06/2018, Volume 176, Issue 6, pp. 1455 - 1462
KIAA2022 is an X‐linked intellectual disability (XLID) syndrome affecting males more severely than females. Few males with KIAA2022 variants and XLID have been... 
KIAA2022 | X‐linked intellectual disability | X-linked intellectual disability | AUTISM | LINKED INTELLECTUAL DISABILITY | MUTATION | GENETICS & HEREDITY | Gastroesophageal reflux | Stomach | Mastocytosis | Strabismus | Motility | Cortex | Gastrointestinal tract | Males | Mental retardation | Genetic screening | Literature reviews | Autism | Keratoconus | Vomiting | Prognathism | Constipation
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 12/2016, Volume 53, Issue 12, pp. 850 - 858
Journal Article
Molecular Syndromology, ISSN 1661-8769, 07/2019, Volume 10, Issue 4, pp. 229 - 233
Mutations in the neurite extension and migration factor (NEXMIF) gene are associated with X-linked intellectual disability. Thus far, all males reported with... 
Novel Insights from Clinical Practice | Generalized epilepsy | X-linked intellectual disability | Torpedo maculopathy | NEXMIF | LINKED INTELLECTUAL DISABILITY | GENETICS & HEREDITY | KIAA2022
Journal Article
Nature Genetics, ISSN 1061-4036, 01/2019, Volume 51, Issue 1, pp. 106 - 116
We combined de novo mutation (DNM) data from 10,927 individuals with developmental delay and autism to identify 253 candidate neurodevelopmental disease genes... 
INTELLECTUAL DISABILITY | AUTISM | MOUSE MODEL | GENETICS & HEREDITY | MISSENSE MUTATION | SEGMENTAL DUPLICATIONS | DEVELOPMENTAL DELAY | SPECTRUM | TRUNCATING MUTATIONS | CLINICAL-SIGNIFICANCE | HAPLOINSUFFICIENCY | Autistic Disorder - genetics | Humans | Mi-2 Nucleosome Remodeling and Deacetylase Complex - genetics | DNA Copy Number Variations - genetics | Developmental Disabilities - genetics | Neurodevelopmental Disorders - genetics | Mutation - genetics | Intellectual Disability - genetics | Exome - genetics | Phenotype | Animals | Chromosome Aberrations | Polymorphism, Single Nucleotide - genetics | Mice | Intracellular Signaling Peptides and Proteins - genetics | Gene mutations | Copy number variations | Analysis | Nervous system | Degeneration | Genetic aspects | Research | Morbidity | Neurosciences | Intellectual disabilities | Copy number | Genes | Disorders | Likelihood ratio | Genomes | Gene deletion | Neurodevelopmental disorders | Spiny neurons | Autism | Missense mutation | Clonal deletion | Reproduction (copying) | Neostriatum | Deletion | Gene duplication | Mutation | Chromosome 16 | TRIO | MYT1L | HNRNPU | EHMT1 | ENO3 | CAPN15 | SUV420H1 | PPP1CB | EFTUD2 | COL4A3BP | SYNGAP1 | PPP2R1A | POGZ | EP300 | KCNH1 | SOX5 | MAP2K1 | MEF2C | CSNK2A1 | TMEM178A | DYRK1A | CASK | FOXP1 | KAT6B | TBL1XR1 | KAT6A | SCN8A | HECW2 | KCNQ2 | EEF1A2 | KCNQ3 | ADNP | Genetics of Developmental Delay | DLX3 | SET | KMT2A | SRCAP | ANP32A | STXBP1 | CUL3 | FOXG1 | ANKRD11 | ITPR1 | de novo Mutation | HIVEP3 | SNX5 | ZBTB18 | CREBBP | IQSEC2 | BCL11A | NONO | UPF3B | BRAF | ADAP1 | GRIN2B | SMARCA2 | SMARCA4 | MED13L | GNAO1 | AGO4 | DLG4 | CAPRIN1 | Neurodevelopmental Disorders | TCF4 | CDK13 | SCN2A | GABRB2 | KDM5B | SETD5 | DDX3X | CHD8 | PTEN | TCF20 | CTCF | CHD3 | CHD2 | WDR45 | SLC6A1 | MECP2 | SNAPC5 | SYNCRIP | TLK2 | CHAMP1 | KIF1A | RAC1 | TNPO2 | DNMT3A | MSL3 | PPP2R5D | ASH1L | SMC1A | ARID1B | CNKSR2 | PACS2 | SETBP1 | PIK3CA | PACS1 | WAC | ZMYND11 | SHANK3 | AHDC1 | SMARCD1 | WDR26 | NFIX | SATB2 | KIAA2022 | HDAC8 | PPM1D | GNAI1 | PURA | PUF60 | NSD1 | LEO1 | DYNC1H1 | MBD5 | NAA10 | USP9X | PTPN11 | MEIS2 | GATAD2B | KANSL1 | ASXL3 | CTNNB1 | TRIP12 | QRICH1 | NAA15 | TAF1
Journal Article
Clinical Genetics, ISSN 0009-9163, 05/2017, Volume 91, Issue 5, pp. 756 - 763
Intellectual disability (ID) affects about 3% of the population and has a male gender bias. Of at least 700 genes currently linked to ID, more than 100 have... 
KIAA2022 | seizures | whole‐exome sequencing | autism | intellectual disability | whole-exome sequencing | MOUSE-BRAIN | GENETIC-BASIS | AUTISM SPECTRUM DISORDER | MECHANISMS | LINKED INTELLECTUAL DISABILITY | NEURITE OUTGROWTH | GENETICS & HEREDITY | EXPRESSION | N-CADHERIN | Autism | Genetic aspects | Sex discrimination | Epilepsy | Intellectual disabilities | Mutation | Cell adhesion & migration
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 03/2016, Volume 170, Issue 3, pp. 703 - 706
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 06/2015, Volume 167, Issue 6, pp. 1349 - 1353
Journal Article
Gene Expression Patterns, ISSN 1567-133X, 2009, Volume 9, Issue 6, pp. 423 - 429
We previously identified an inactivating disruption of the X-linked gene by a chromosomal rearrangement in two male patients with severe mental retardation. In... 
Mental retardation | Postmitotic neurons | Kiaa2022 | Ventral premammillary nucleus | X chromosome | postmitotic neurons | CELLS | GENETICS & HEREDITY | DEVELOPMENTAL BIOLOGY | Mice | Neurons | Mental illness | Brain
Journal Article
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