Pages that link to "Q28258987"

The following pages link to Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome (Q28258987):

Displaying 32 items.

• Apolipoprotein E receptors in the nervous system (Q24607165) (← links)
• A neuronal VLDLR variant lacking the third complement-type repeat exhibits high capacity binding of apoE containing lipoproteins (Q24646231) (← links)
• Two families with quadrupedalism, mental retardation, no speech, and infantile hypotonia (Uner Tan Syndrome Type-II); a novel theory for the evolutionary emergence of human bipedalism. (Q26866014) (← links)
• CA8 mutations cause a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gait (Q27312310) (← links)
• Inferior cerebellar hypoplasia resembling a Dandy-Walker-like malformation in purebred Eurasier dogs with familial non-progressive ataxia: a retrospective and prospective clinical cohort study (Q27315776) (← links)
• Cerebellar hypoplasia, with quadrupedal locomotion, caused by mutations in the very low-density lipoprotein receptor gene (Q28273868) (← links)
• Uner tan syndrome: history, clinical evaluations, genetics, and the dynamics of human quadrupedalism (Q28743381) (← links)
• The very low density lipoprotein receptor attenuates house dust mite-induced airway inflammation by suppressing dendritic cell-mediated adaptive immune responses (Q33593881) (← links)
• Mutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation (dysequilibrium syndrome) (Q33771320) (← links)
• A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotion (Q34413832) (← links)
• Genotype-phenotype correlation in neuronal migration disorders and cortical dysplasias. (Q34479643) (← links)
• Single gene disorders come into focus--again (Q35237181) (← links)
• A deletion in the VLDLR gene in Eurasier dogs with cerebellar hypoplasia resembling a Dandy-Walker-like malformation (DWLM). (Q35558738) (← links)
• Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred. (Q35581537) (← links)
• The very low density lipoprotein receptor-associated pontocerebellar hypoplasia and dysmorphic features in three Turkish patients (Q35641962) (← links)
• Mutations in NSUN2 cause autosomal-recessive intellectual disability. (Q36036572) (← links)
• Macrophage VLDL receptor promotes PAFAH secretion in mother's milk and suppresses systemic inflammation in nursing neonates (Q36462361) (← links)
• Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion (Q36611976) (← links)
• C-Terminal Region Truncation of RELN Disrupts an Interaction with VLDLR, Causing Abnormal Development of the Cerebral Cortex and Hippocampus. (Q37630552) (← links)
• Systematic review of autosomal recessive ataxias and proposal for a classification (Q37663386) (← links)
• Prenatal diagnosis and molecular cytogenetic characterization of a de novo pure distal 9p deletion and literature review (Q38131985) (← links)
• What are lipoproteins doing in the brain? (Q40872027) (← links)
• Reply to Herz et al. and Humphrey et al.: Genetic heterogeneity of cerebellar hypoplasia with quadrupedal locomotion (Q43161981) (← links)
• "Devolution" of bipedality (Q43238056) (← links)
• Cerebellar ataxia, mental retardation and dysequilibrium syndrome 1 (CAMRQ1) caused by an unusual constellation of VLDLR mutation. (Q43507249) (← links)
• Prenatal diagnosis of posterior fossa anomalies: Additional value of chromosomal microarray analysis in fetuses with cerebellar hypoplasia (Q48243324) (← links)
• Deep sequencing reveals 50 novel genes for recessive cognitive disorders (Q48884202) (← links)
• Very mild features of dysequilibrium syndrome associated with a novel VLDLR missense mutation (Q51725231) (← links)
• Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy (Q51857474) (← links)
• Clinical and molecular delineation of dysequilibrium syndrome type 2 and profound sensorineural hearing loss in an inbred Arab family. (Q53321531) (← links)
• The Reelin Receptors Apolipoprotein E receptor 2 (ApoER2) and VLDL Receptor (Q57289111) (← links)
• Expression and functional characterization of missense mutations in ATP8A2 linked to severe neurological disorders (Q92519826) (← links)