Disease: Dandy Walker variant
- A deletion in the VLDLR gene in Eurasier dogs with cerebellar hypoplasia resembling a Dandy-Walker-like malformation (DWLM)
- A founder PPIL1 variant underlies a recognizable form of microlissencephaly with pontocerebellar hypoplasia
- A genotype-first analysis in a cohort of Mullerian anomaly
- A New Anatomic Variation: Coexistence of Both Dandy-Walker Variant and Ophthalmic Artery Originating From Contralateral Internal Carotid Artery
- A nonsense mutation in CEP55 defines a new locus for a Meckel-like syndrome, an autosomal recessive lethal fetal ciliopathy
- A rare association of Down syndrome with Dandy -Walker variant, pulmonary hypertension and childhood interstitial lung disease: A case report of a prognostic dilemma
- A Rare Case of Pontocerebellar Hypoplasia Type 1B With Literature Review
- A rare mutant of OFD1 gene responsible for Joubert syndrome with significant phenotype variation
- Abnormalities of the Fetal Central Nervous System: Prenatal US Diagnosis with Postnatal Correlation
- Anatomic variants in Dandy-Walker complex
- Aplasia of the Internal Carotid Artery with Dandy-Walker Variant
- Atypical psychotic symptoms and Dandy-Walker variant
- Basilar invagination in a child with atlanto-occipital subluxation and suspected prenatal Dandy-Walker malformation
- Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS): new cases, systematic literature review, and associations with CSF1R-ALSP
- Brain malformations in diprosopia observed in clinical cases, museum specimens and artistic representations
- Brainstem folding in an influenza child with Dandy-Walker variant
- Caput membranaceum: A novel clinical presentation of ZIC1 related skull malformation and craniosynostosis
- Caudal Fossa Ratio in Normal Dogs and Eurasier Dogs with VLDLR-Associated Genetic Cerebellar Hypoplasia
- Central nervous system abnormalities in Fanconi anaemia: patterns and frequency on magnetic resonance imaging
- Chromosomal aneuploidies and copy number variations in posterior fossa abnormalities diagnosed by prenatal ultrasonography
- Confirming the involvement of PIEZO2 in the etiology of Marden-Walker syndrome
- Constitutive activation of the PI3K-AKT pathway and cardiovascular abnormalities in an individual with Kosaki overgrowth syndrome
- Dandy walker variant and bipolar I disorder with graphomania
- Dandy Walker variant with agenesis of corpus callosum diagnosed late prenatally by foetal ultrasound: a case report
- Dandy-Walker complex: a clinicopathologic study of 9 cases
- Dandy-Walker Malformation
- Dandy-Walker Malformation
- Dandy-Walker malformation and variants: clinical features and associated anomalies in 28 affected children-a single retrospective study and a review of the literature
- Dandy-Walker Malformation with Neonatal Meningitis: A Case Report
- Dandy-Walker variant and refractory psychosis
- Dandy-Walker Variant Associated with Bilateral Congenital Cataract
- Dandy-Walker variant with precocious puberty: a rare association
- Dandy-Walker Variant with Schizophrenia: Comorbidity or Cerebellar Cognitive Affective Syndrome?
- Dandy-Walker variant: Case report
- Diagnosis of Joubert Syndrome 10 in a Fetus with Suspected Dandy-Walker Variant by WES: A Novel Splicing Mutation in <em>OFD1</em>
- Diagnosis of Joubert Syndrome 10 in a Fetus with Suspected Dandy-Walker Variant by WES: A Novel Splicing Mutation in OFD1
- Differential Diagnoses and Their Implications of Dandy-Walker Malformation or Isolated Cisterna Magna, a Case Study: Baby V
- Enlarged posterior fossa on prenatal imaging: differential diagnosis, associated anomalies and postnatal outcome
- Epidemiology of Dandy-Walker Malformation in Europe: A EUROCAT Population-Based Registry Study
- Evaluation and prevalence of major central nervous system malformations: a retrospective study
- Expanding the phenotypic spectrum and clinical severity associated with WLS gene
- Expanding the spectrum of CEP55-associated disease to viable phenotypes
- Family-base rare variant association analysis in Saudi Arabian hydrocephalus subjects using whole exome sequencing
- Fetal brain arrest broadens the spectrum of WDR81-related developmental brain malformations
- Fetal Central Nervous System Anomalies Detected by Magnetic Resonance Imaging: A Two-Year Experience
- First Reported Case of 'Epidermal Nevus Syndrome' with a Triad of Central Nervous System Deformities
- Further Evidence of a Continuum in the Clinical Spectrum of Dominant <em>PIEZO2</em>-Related Disorders and Implications in Cerebellar Anomalies
- Genetic tests aid in counseling of fetuses with cerebellar vermis defects
- Genetics and Molecular Pathogenesis of Human Hydrocephalus
- Goldston syndrome with congenital hepatic fibrosis: A rare cause of neonatal cholestasis
- Holoprosencephaly spectrum among Egyptian patients: clinical and cytogenetic study
- Homozygosity for a novel missense variant of <em>RPGRIP1L</em> causing Joubert syndrome with renal defects in a family of Chinese descent
- Hypoglycemia and Dandy-Walker variant in a Kabuki syndrome patient: a case report
- Incidence, follow-up, and postnatal clinical progress of children with central nervous system anomalies on fetal MRI
- Incidental Presentation of Dandy Walker Variant in 66 Year Male Patient
- Kabuki syndrome: novel pathogenic variants, new phenotypes and review of literature
- Lateral ventricle pleomorphic xanthoastrocytoma concurrent with Dandy-Walker complex: A case report
- Long-term outcomes of fetal posterior fossa abnormalities diagnosed with fetal magnetic resonance imaging
- Massive posterior cranial vault erosion and its reconstruction: A peculiar presentation of "mega cisterna magna"
- MODY3, renal cysts, and Dandy-Walker variants with a microdeletion spanning the HNF1A gene
- Mutated zinc finger protein of the cerebellum 1 leads to microcephaly, cortical malformation, callosal agenesis, cerebellar dysplasia, tethered cord and scoliosis
- Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish
- Nasal fistula, epidermal cyst and hypernatremia in a girl presenting holoprosencephaly due to a rare ZIC2 point mutation
- Nasopharyngeal teratoma, congenital diaphragmatic hernia and Dandy-Walker malformation - a yet uncharacterized syndrome
- Neuraxial dysraphism in <em>EPAS1-</em>associated syndrome due to improper mesenchymal transition
- Neurocutaneous Melanosis with Hydrocephalus and Dandy-Walker Variant
- Neuropsychological Function in a Case of Dandy-Walker Variant in a 68-Year-Old Veteran
- NID1 variant associated with occipital cephaloceles in a family expressing a spectrum of phenotypes
- NID1-related autosomal dominant Dandy-Walker malformation with occipital cephalocele in three generations
- Not Dandy Walker variant: a review of prominent retrocerebellar CSF space in children
- Novel association of Dandy-Walker malformation with CAPN15 variants expands the phenotype of oculogastrointestinal neurodevelopmental syndrome
- Novel homozygous <em>GLDC</em> variant causing late-onset glycine encephalopathy: A case report and updated review of the literature
- Novel splice-site and missense mutations in the ALDH1A3 gene underlying autosomal recessive anophthalmia/microphthalmia
- Paediatric Salzmann's nodular degeneration in Dandy-Walker syndrome variant
- Phenotypic characterization of KCTD3-related developmental epileptic encephalopathy
- Prenatal clinical manifestations in individuals with <em>COL4A1/2</em> variants
- Prenatal diagnosis of posterior fossa anomalies: Additional value of chromosomal microarray analysis in fetuses with cerebellar hypoplasia
- Prenatal Identification and Molecular Characterization of Two Simultaneous De Novo Interstitial Duplications of Chromosomal Regions 7p22.1p21.1 and 15q24.1
- Prenatal presentation of a rare genetic disorder: a clinical, autopsy and molecular correlation
- Prenatal whole exome sequencing detects a new homozygous fukutin (FKTN) mutation in a fetus with an ultrasound suspicion of familial Dandy-Walker malformation
- Psychiatric manifestations associated with mega cisterna magna
- Psychiatric misdiagnoses in Dandy-Walker variant
- Psychosis and Dandy-Walker syndrome: a case report and review of the literature
- Psychosis in a Case of Dandy-Walker Syndrome: A Case Report
- Redefining the Etiologic Landscape of Cerebellar Malformations
- Retinal vascular nonperfusion in siblings with Dandy-Walker variant
- Schizophrenia-like psychosis and dandy-walker variant comorbidity: case report
- SETD2 related overgrowth syndrome: Presentation of four new patients and review of the literature
- Severe coarctation of the aorta, developmental delay, and multiple dysmorphic features in a child with SMAD6 and SMARCA4 variants
- Shunt Surgery for Neurocutaneous Melanosis with Hydrocephalus: Case Report and Review of the Literature
- Somatic variation as an incidental finding in the pediatric next-generation sequencing era
- Speech and Language Delays Associated With New-Onset Seizures Revealing Dandy-Walker Variant
- The first case of antenatal presentation in COG8-congenital disorder of glycosylation with a novel splice site mutation and an extended phenotype
- The RRAS2 pathogenic variant p.Q72L produces severe Noonan syndrome with hydrocephalus: A case report
- The typology and function of private speech in a young man with intellectual disabilities: An empirical case study
- Tic-Related Obsessive-Compulsive and Eating Disorders in Dandy-Walker Variant: A Case Report and Systematic Reappraisal of Psychiatric Profiles
- Twenty years of misdiagnosis of schizophrenia in a patient with Dandy-Walker variant syndrome
- Two case reports of KBG syndrome with Dandy-Walker variant
- Very severe spinal muscular atrophy: Type 0 with Dandy-Walker variant
- Whole exome sequencing in Dandy-Walker variant with intellectual disability reveals an activating CIP2A mutation as novel genetic cause