17q12 Kennisbankdeletion syndrome · static snapshot
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Gen–kenmerk-koppeling leren, taal en gedrag 37 ondersteunende bronnen vertrouwen 97% nieuwheid 64%

Het gen LHX1 komt in 22 artikelen samen met leren, taal en gedrag voor

In 22 onafhankelijke artikelen komt het gen LHX1 samen met leren, taal en gedrag voor. Associatiesterkte 0.14..

Hoe dit tot stand kwam

Gelijktijdig voorkomen is een *waarneming over de literatuur*, geen bewijs van oorzakelijkheid.

Gegenereerd 2026-11-13, laatst gewijzigd vandaag. Dedup-sleutel assoc:LHX1:neurodevelopment. De engine controleert dit inzicht bij elke analyse opnieuw; als meer bronnen het eens zijn, stijgen zijn onderbouwing en vertrouwen en verschijnt het opnieuw als “nieuw”.

Bewijs (4 citaten)

…ch suggested that some people may be sensitive to the dose changes in genes located in the chromosome 17q12 region. A variable phenotype of epilepsy, intellectual disability, and schizophrenia caused by a 12p13.33-p13.32 terminal microdeletion was identified in a Korean family. Among the six candidate genes in this region…
…number variation in bipolar disorder. Mol. Psychiatry. 2016;21:89-93. doi: 10.1038/mp.2014.174. 9. Mefford H.C., Batshaw M.L., Hoffman E.P. Genomics, Intellectual Disability, and Autism. N. Engl. J. Med. 2012;366:733-743. doi: 10.1056/NEJMra1114194. 10. Srivastava A.K., Schwartz C.E. Intellectual disability and autism spe…
…4 , 45 ]. Approximately 30-40% of individuals with DiGeorge syndrome meet diagnostic criteria for ASD [ 46 ]. FXS, the most common inherited cause of intellectual disability, is also strongly associated with ASD, with prevalence estimates indicating that around 50% of males and 16% of females with FXS receive an ASD diagn…
…velopmental and epileptic encephalopathies (DEEs, [MIM: 308350]), a severe group of epilepsies characterized by early-onset, intractable seizures and developmental delay. In contrast, genes discovered for the milder, more common forms of epilepsies - genetic generalized epilepsy (GGE [MIM: 600669]) and non-acquired fo…

Ondersteunende documenten (46)

DocumentBronGepubliceerdGezienRelevantie
17q12 Recurrent Deletion Syndrome in Childhood pmc 2025-01-01 gisteren 1.00
Identification of novel driver risk genes in CNV loci associated wi... pmc 2024-01-01 gisteren 0.45
HNF1β, LHX1, and GGNBP2 deletion contributed to kidney and reproduc... pmc 2024-01-01 gisteren 1.00
Prenatal diagnosis of 17q12 copy number variants in fetuses via chr... pmc 2024-01-01 gisteren 1.00
A Case of Diabetes Mellitus Type MODY5 as a Feature of 17q12 Deleti... pmc 2024-01-01 gisteren 1.00
Copy number variation and regions of homozygosity analysis in patie... pubmed 2018-01-01 gisteren 1.00
The individual and global impact of copy-number variants on complex... pubmed 2022-04-07 gisteren 1.00
Autism and duplication of 17q12q21.2 by array-CGH: a case report. pubmed 2023-01-01 gisteren 1.00
HNF1B-MODY (MODY-5): a rare form of diabetes with multisystemic fea... pubmed 2026-01-01 gisteren 1.00
Exome sequencing of 20,979 individuals with epilepsy reveals shared... pmc 2024-01-01 gisteren 1.00
In-Depth Phenotyping of PIGW -Related Disease and Its Role in 17q12... pmc 2024-01-01 gisteren 1.00
Delineation of the Genetic Architecture and Clinical Polymorphism o... pmc 2024-01-01 gisteren 1.00
Psychosis of Epilepsy: An Update on Clinical Classification and Mechanism pmc 2025-01-01 gisteren 1.00
Decreased T helper 1 cell function underlies recurrent sinopulmonar... pmc 2025-01-01 gisteren 1.00
Case-based learning: a case of maturity-onset diabetes of the young... pmc 2025-01-01 gisteren 1.00
Autism Spectrum Disorder: Genetic Mechanisms and Inheritance Patterns pmc 2025-01-01 gisteren 1.00
ESC models of autism with copy-number variations reveal cell-type-s... pmc 2025-01-01 gisteren 1.00
Genetic Predisposition in Müllerian Malformations: A Case Report pmc 2025-01-01 gisteren 1.00
Multi- and Transgenerational Histological and Transcriptomic Outcom... pmc 2025-01-01 gisteren 0.97
Cognitive deterioration in patients undergoing hemodialysis: how va... pmc 2025-01-01 gisteren 1.00
A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-on... pmc 2025-01-01 gisteren 1.00
MODY5 and 17q12 Microdeletion Syndrome: Phenotype Variability, Pren... pmc 2025-01-01 gisteren 1.00
Phenotypic Heterogeneity in Genetic and Acquired Pediatric Cerebell... pmc 2025-01-01 gisteren 1.00
Building a human pluripotent stem cell-based gonadal niche: improvi... pmc 2025-01-01 gisteren 0.97
Frame shift mutation of LHX1 is associated with Mayer-Rokitansky-Ku... pubmed 2012-09-01 gisteren 1.00
TBX6, LHX1 and copy number variations in the complex genetics of Mü... pubmed 2013-08-16 gisteren 1.00
The Genetic Landscape of Müllerian Duct Anomalies: A Comprehensive Review pmc 2025-01-01 gisteren 1.00
Assessing the clinical application value of SNP-array in fetal cent... pmc 2025-01-01 gisteren 1.00
Clinical and genetic aspects of Mayer-Rokitansky-Küster-Hauser syndrome. pubmed 2018-01-01 gisteren 1.00
Phenotypic differences and similarities of monozygotic twins with m... pubmed 2019-07-01 gisteren 1.00
Comparing Copy Number Variations in a Danish Case Cohort of Individ... pubmed 2022-01-01 gisteren 1.00
Maternal DNA methylation signatures of gestational diabetes across ... pmc 2025-01-01 gisteren 0.76
HNF1B variant without hyperglycaemia as a cause of isolated profoun... pubmed 2023-02-09 gisteren 1.00
Fetal agenesis of corpus callosum: chromosomal copy number abnormal... pubmed 2024-07-30 gisteren 1.00
Prenatal Diagnosis of Malformations of Cortical Development: A Revi... pmc 2026-01-01 gisteren 1.00
Genetic Analysis of Prenatal Renal Abnormalities in 17q12 Microdele... pmc 2025-01-01 gisteren 1.00
Structural variations in evolutionary novel genomic regions: new in... pmc 2026-01-01 gisteren 1.00
A complex microdeletion 17q12 phenotype in a patient with recurrent... pubmed 2012-05-14 gisteren 1.00
Genetic and embryonic transcriptome analyses reveal the molecular a... pmc 2025-01-01 gisteren 1.00
Unraveling the Genetic Mysteries of Müllerian Anomalies: Research A... pmc 2026-01-01 gisteren 1.00
A novel inversion at 17q12 disrupting HNF1B gene in a patient with ... pmc 2026-01-01 gisteren 1.00
Epilepsy as a Component of the Dysmorphic–Neurodevelopmental Phenot... pmc 2026-01-01 gisteren 1.00
Prenatal Ultrasound–Detected Structural Anomalies Associated with A... pmc 2026-01-01 gisteren 1.00
A familial case report of 17q12 recurrent deletion syndrome: clinic... pmc 2026-01-01 gisteren 1.00
The effect of human-specific genetic variants on neuronal spinogenesis pmc 2026-01-01 gisteren 1.00
Chromosomal Microarray Analysis in Critically Ill Neonates and Chil... pmc 2026-01-01 gisteren 1.00