ArticleHuman genetics2008
Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity.
Article in Human genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 39 citations in OpenAlex.
- Dandy-Walker syndrome: a bibliometric analysis of the most 100 cited articles.Annals of medicine and surgery (2012) · 2024Review
- The genetic basis of hydrocephalus: genes, pathways, mechanisms, and global impact.Fluids and barriers of the CNS · 2024Review
- Dandy-Walker Phenotype with Brainstem Involvement: 2 Distinct Subgroups with Different Prognosis.AJNR. American journal of neuroradiology · 2023Article
- Article
- Congenital lateral encephalocele-case report.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2020Article
- Occipital meningoencephalocele with Cleft Lip, Cleft Palate and Limb Abnormalities- A Case Report.Journal of clinical and diagnostic research : JCDR · 2014Article
- Blake's pouch cyst and Werdnig-Hoffmann disease: Report of a new association and review of the literature.Surgical neurology international · 2014Article
- Mutations in extracellular matrix genes NID1 and LAMC1 cause autosomal dominant Dandy-Walker malformation and occipital cephaloceles.Human mutation · 2013Article
- Developmental disorders of the midbrain and hindbrain.Frontiers in neuroanatomy · 2012Article
- Hydrocephalus in Dandy-Walker malformation.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2011Review
- Multiple developmental programs are altered by loss of Zic1 and Zic4 to cause Dandy-Walker malformation cerebellar pathogenesis.Development (Cambridge, England) · 2011Article
- Giant occipital meningocele in an 8-year-old child with Dandy-Walker malformation.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2011Article
- A developmental and genetic classification for midbrain-hindbrain malformations.Brain : a journal of neurology · 2009Review
- Looking at cerebellar malformations through text-mined interactomes of mice and humans.PLoS computational biology · 2009Article
- Cerebellar development and disease.Current opinion in neurobiology · 2008Review
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Authors and funding
20 authors at 7 institutions in 3 countries.
Funding
Abstract
We previously reported a Vietnamese-American family with isolated autosomal dominant occipital cephalocele. Upon further neuroimaging studies, we have recharacterized this condition as autosomal dominant Dandy-Walker with occipital cephalocele (ADDWOC). A similar ADDWOC family from Brazil was also recently described. To determine the genetic etiology of ADDWOC, we performed genome-wide linkage analysis on members of the Vietnamese-American and Brazilian pedigrees. Linkage analysis of the Vietnamese-American family identified the ADDWOC causative locus on chromosome 2q36.1 with a multipoint parametric LOD score of 3.3, while haplotype analysis refined the locus to 1.1 Mb. Sequencing of the five known genes in this locus did not identify any protein-altering mutations. However, a terminal deletion of chromosome 2 in a patient with an isolated case of Dandy-Walker malformation also encompassed the 2q36.1 chromosomal region. The Brazilian pedigree did not show linkage to this 2q36.1 region. Taken together, these results demonstrate a locus for ADDWOC on 2q36.1 and also suggest locus heterogeneity for ADDWOC.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.