Pages that link to "Q41934859"
Jump to navigation
Jump to search
The following pages link to Phenotypic spectrum associated with CASK loss-of-function mutations (Q41934859):
Displaying 50 items.
- Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient (Q21202859) (← links)
- The presynaptic active zone (Q26269863) (← links)
- Switching modes in corticogenesis: mechanisms of neuronal subtype transitions and integration in the cerebral cortex (Q26796252) (← links)
- X-linked intellectual disability gene CASK regulates postnatal brain growth in a non-cell autonomous manner (Q27317003) (← links)
- Mice lacking the synaptic adhesion molecule Neph2/Kirrel3 display moderate hyperactivity and defective novel object preference (Q30659220) (← links)
- Pontocerebellar hypoplasia (Q30830818) (← links)
- The genetics of cerebellar malformations (Q31094282) (← links)
- Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome (Q33614012) (← links)
- Haploinsufficiency of BCL11A associated with cerebellar abnormalities in 2p15p16.1 deletion syndrome (Q33906995) (← links)
- Neuronal excitation upregulates Tbr1, a high-confidence risk gene of autism, mediating Grin2b expression in the adult brain (Q34159122) (← links)
- The clinical significance of small copy number variants in neurodevelopmental disorders (Q34238113) (← links)
- De novo TBR1 mutations in sporadic autism disrupt protein functions (Q34419403) (← links)
- Phenotypic and molecular insights into CASK-related disorders in males (Q35668098) (← links)
- Autism spectrum disorder and epilepsy: Disorders with a shared biology (Q35762766) (← links)
- Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly (Q35914660) (← links)
- Differential Transcriptome Networks between IDO1-Knockout and Wild-Type Mice in Brain Microglia and Macrophages (Q36055343) (← links)
- Scaffolding proteins DLG1 and CASK cooperate to maintain the nephron progenitor population during kidney development (Q36977379) (← links)
- MICrocephaly, disproportionate pontine and cerebellar hypoplasia syndrome: A clinico-radiologic phenotype linked to calcium/calmodulin-dependent serine protein kinase gene mutation (Q37043658) (← links)
- Involvement of cortical fast-spiking parvalbumin-positive basket cells in epilepsy (Q37568479) (← links)
- Calcium/calmodulin-dependent serine protein kinase (CASK), a protein implicated in mental retardation and autism-spectrum disorders, interacts with T-Brain-1 (TBR1) to control extinction of associative memory in male mice. (Q37730428) (← links)
- Array CGH in patients with developmental delay or intellectual disability: are there phenotypic clues to pathogenic copy number variants? (Q37979241) (← links)
- Midbrain and hindbrain malformations: advances in clinical diagnosis, imaging, and genetics. (Q38091854) (← links)
- Structural constraints and functional divergences in CASK evolution. (Q38122235) (← links)
- Genetic disorders associated with postnatal microcephaly (Q38212652) (← links)
- Novel approaches for targeting kinases: allosteric inhibition, allosteric activation and pseudokinases (Q39226865) (← links)
- Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH) (Q41281131) (← links)
- A novel CASK mutation identified in siblings exhibiting developmental disorders with/without microcephaly (Q41700166) (← links)
- CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia (Q41933721) (← links)
- Optic Nerve Hypoplasia Is a Pervasive Subcortical Pathology of Visual System in Neonates (Q42631334) (← links)
- A clinical series using intensive neurorehabilitation to promote functional motor and cognitive skills in three girls with CASK mutation. (Q47121361) (← links)
- Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases (Q47841401) (← links)
- Two microcephaly-associated novel missense mutations in CASK specifically disrupt the CASK-neurexin interaction (Q50090889) (← links)
- LRRTM1 underlies synaptic convergence in visual thalamus. (Q50101617) (← links)
- Dysfunction of SHANK2 and CHRNA7 in a patient with intellectual disability and language impairment supports genetic epistasis of the two loci (Q50302712) (← links)
- Exome sequencing identified mutations in CASK and MYBPC3 as the cause of a complex dilated cardiomyopathy phenotype. (Q50349326) (← links)
- Cerebellar hypoplasia: differential diagnosis and diagnostic approach (Q50661803) (← links)
- Microcephaly, dysmorphic features, corneal dystrophy, hairy nipples, underdeveloped labioscrotal folds, and small cerebellum in four patients. (Q52140298) (← links)
- Novel CASK mutations in cases with syndromic microcephaly. (Q52565159) (← links)
- De novo exonic deletion of KDM6A in a Chinese girl with Kabuki syndrome: A case report and brief literature review. (Q52669948) (← links)
- Review of X-linked syndromes with arthrogryposis or early contractures-aid to diagnosis and pathway identification. (Q53577198) (← links)
- The genetic landscape of infantile spasms (Q57041043) (← links)
- Structure and function of the guanylate kinase-like domain of the MAGUK family scaffold proteins (Q58035193) (← links)
- An N-terminal heterozygous missense CASK mutation is associated with microcephaly and bilateral retinal dystrophy plus optic nerve atrophy (Q90485459) (← links)
- Deficiency of calcium/calmodulin-dependent serine protein kinase disrupts the excitatory-inhibitory balance of synapses by down-regulating GluN2B (Q90893721) (← links)
- The CNTNAP2-CASK complex modulates GluA1 subcellular distribution in interneurons (Q91704538) (← links)
- Is an analysis of copy number variants necessary for various types of kidney ultrasound anomalies in fetuses? (Q91939457) (← links)
- Non-Cell Autonomous Roles for CASK in Optic Nerve Hypoplasia (Q92698035) (← links)
- Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita (Q92807361) (← links)
- Presynaptic dysfunction in CASK-related neurodevelopmental disorders (Q99418007) (← links)
- A de novo frameshift pathogenic variant in TBR1 identified in autism without intellectual disability (Q99571371) (← links)