ArticlePloS one2013
Chiari malformation type I: a case-control association study of 58 developmental genes.
Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers, 2 of them syntheses that pooled it.
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Who cites it
32 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- From gene to geometry: the molecular morphogenesis of the fourth ventricle angle and its role in predicting brainstem dysfunction among Chiari I malformation patients.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2026Pooled it
- Cognition in Chiari Malformation Type I: an Update of a Systematic Review.Neuropsychology review · 2024Pooled it
- Individuation of predictive parameters of posterior cranial fossa decompression in pediatric patients with Chiari I malformation and autism spectrum disorder.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2026Article
- Syringohydromyelia, syringobulbia and syringocephaly associated with Chiari - I malformation: A case report.Radiology case reports · 2025Article
- The Genetics of Chiari 1 Malformation.Journal of clinical medicine · 2024Review
- Prenatal diagnosis of non-typical Chiari malformation type I associated with de novo Nuclear Factor I A gene mutation: a case report.Journal of medical case reports · 2024Article
- Headache disorders in patients with Ehlers-Danlos syndromes and hypermobility spectrum disorders.Frontiers in neurology · 2024Review
- Evaluation and Treatment of Patients with Small Posterior Cranial Fossa and Chiari Malformation, Types 0 and 1.Advances and technical standards in neurosurgery · 2024Article
- Decoding Chiari Malformation and Syringomyelia: From Epidemiology and Genetics to Advanced Diagnosis and Management Strategies.Brain sciences · 2023Review
- ALDH1A2-related disorder: A new genetic syndrome due to alteration of the retinoic acid pathway.American journal of medical genetics. Part A · 2023Article
- On the association between Chiari malformation type 1, bone mineral density and bone related genes.Bone reports · 2022Article
- Is there a morphometric cause of Chiari malformation type I? Analysis of existing literature.Neurosurgical review · 2022Review
- Rare and de novo coding variants in chromodomain genes in Chiari I malformation.American journal of human genetics · 2021Article
- Retinoic Acid Fluctuation Activates an Uneven, Direction-Dependent Network-Wide Robustness Response in Early Embryogenesis.Frontiers in cell and developmental biology · 2021Article
- Rare functional genetic variants in COL7A1, COL6A5, COL1A2 and COL5A2 frequently occur in Chiari Malformation Type 1.PloS one · 2021Article
- Case Report: Pansynostosis, Chiari I Malformation and Syringomyelia in a Child With Frontometaphyseal Dysplasia 1.Frontiers in pediatrics · 2021Article
- Weak Ligaments and Sloping Joints: A New Hypothesis for Development of Congenital Atlantoaxial Dislocation and Basilar Invagination.Neurospine · 2020Article
- Prevalence and Impact of Underlying Diagnosis and Comorbidities on Chiari 1 Malformation.Pediatric neurology · 2020Article
- A combined RNA-seq and whole genome sequencing approach for identification of non-coding pathogenic variants in single families.Human molecular genetics · 2020Article
- Genome-wide identification of Chiari malformation type I associated candidate genes and chromosomal variations.Turkish journal of biology = Turk biyoloji dergisi · 2020Article
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7 authors.
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Abstract
Chiari malformation type I (CMI) is a disorder characterized by hindbrain overcrowding into an underdeveloped posterior cranial fossa (PCF), often causing progressive neurological symptoms. The etiology of CMI remains unclear and is most likely multifactorial. A putative genetic contribution to CMI is suggested by familial aggregation and twin studies. Experimental models and human morphometric studies have suggested an underlying paraxial mesoderm insufficiency. We performed a case-control association study of 303 tag single nucleotide polymorphisms (SNP) across 58 candidate genes involved in early paraxial mesoderm development in a sample of 415 CMI patients and 524 sex-matched controls. A subgroup of patients diagnosed with classical, small-PCF CMI by means of MRI-based PCF morphometry (n = 186), underwent additional analysis. The genes selected are involved in signalling gradients occurring during segmental patterning of the occipital somites (FGF8, Wnt, and retinoic acid pathways and from bone morphogenetic proteins or BMP, Notch, Cdx and Hox pathways) or in placental angiogenesis, sclerotome development or CMI-associated syndromes. Single-marker analysis identified nominal associations with 18 SNPs in 14 genes (CDX1, FLT1, RARG, NKD2, MSGN1, RBPJ1, FGFR1, RDH10, NOG, RARA, LFNG, KDR, ALDH1A2, BMPR1A) considering the whole CMI sample. None of these overcame corrections for multiple comparisons, in contrast with four SNPs in CDX1, FLT1 and ALDH1A2 in the classical CMI group. Multiple marker analysis identified a risk haplotype for classical CMI in ALDH1A2 and CDX1. Furthermore, we analyzed the possible contributions of the most significantly associated SNPs to different PCF morphometric traits. These findings suggest that common variants in genes involved in somitogenesis and fetal vascular development may confer susceptibility to CMI.
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