Research By Disease – CheckOrphan

Disease: Joubert syndrome 1

RPI-1 (human DCDC2) displays functional redundancy with Nephronophthisis 4 in regulating cilia biogenesis in C. elegans
A Case of INPP5E-Related Joubert Syndrome: Connecting Evolving Phenotype With Novel Genotype
A case of Joubert syndrome caused by novel compound heterozygous variants in the TMEM67 gene
A case with Joubert syndrome diagnosed at an advanced age
A deep intronic TCTN2 variant activating a cryptic exon predicted by SpliceRover in a patient with Joubert syndrome
A genotype-to-phenotype approach suggests under-reporting of single nucleotide variants in nephrocystin-1 (NPHP1) related disease (UK 100,000 Genomes Project)
A novel 1.38-kb deletion combined with a single nucleotide variant in KIAA0586 as a cause of Joubert syndrome
A novel mutation of the RPGRIP1L gene in a Chinese boy with Joubert syndrome with oculorenal involvement
A Pilot Study to Develop Paraneoplastic Cerebellar Degeneration Mouse Model
ABO blood type and functional neurological outcome in patients with severe traumatic brain injury
Advances in treatments of patients with classical and emergent neurological toxicities of anticancer agents
Anti-Hu Antibodies in Patients With Neurologic Side Effects of Immune Checkpoint Inhibitors
Attention to renal involvement: report of 17 Joubert syndrome cases in children of a single center in China
Biallelic CC2D2A variants, SNV and LINE-1 insertion simultaneously identified in siblings using long-read whole-genome sequencing and haplotype phasing
Biallelic intragenic tandem duplication of CPLANE1 in Joubert syndrome: A case report
Bilateral Intraorbital Opticmeningoceles in Joubert Syndrome
Case Report: Identification of likely recurrent CEP290 mutation in a child with Joubert syndrome and cerebello-retinal-renal features
CEP104 gene may involve in the pathogenesis of a new developmental disorder other than joubert syndrome
CEP120-mediated KIAA0753 recruitment onto centrioles is required for timely neuronal differentiation and germinal zone exit in the developing cerebellum
CEP41, a ciliopathy-linked centrosomal protein, regulates microtubule assembly and cell proliferation
Clinical and genetic analyses of Joubert syndrome in children
Clinical and genetic spectrum from a prototype of ciliopathy: Joubert syndrome
Clinical and molecular characteristics of tectonic (TCTN1) gene-related Joubert syndrome in a Saudi boy
Clinical and Molecular Features of a Chinese Cohort With Syndromic and Nonsyndromic Retinal Dystrophies Related to the CEP290 Gene
Clinical features and genetic analysis of two Chinese pedigrees affected with Joubert syndrome
Comment: Another Piece of the Puzzle of Anomalous Connectivity in Joubert's Syndrome
Common Risk Variants in AHI1 Are Associated With Childhood Steroid Sensitive Nephrotic Syndrome
Comparing the findings and diagnostic sensitivity of cardiovascular magnetic resonance in biopsy confirmed acute myocarditis with infarct-like vs. heart failure presentation
Compound heterozygous ADAMTS9 variants in Joubert syndrome-related disorders without renal manifestation
Compound heterozygous splicing variants in KIAA0586 cause fetal short-rib thoracic dysplasia and cerebellar malformation: Use of exome sequencing in prenatal diagnosis
Conformation-stabilizing ELISA and cell-based assays reveal patient subgroups targeting three different epitopes of AGO1 antibodies
Consensus Paper: Latent Autoimmune Cerebellar Ataxia (LACA)
CSPP1 stabilizes growing microtubule ends and damaged lattices from the luminal side
De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome
Defects in diffusion barrier function of ciliary transition zone caused by ciliopathy variations of TMEM218
Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish
Estimating the changing burden of disease attributable to alcohol use in South Africa for 2000, 2006 and 2012
Exome Analysis Reveals Novel Missense and Deletion Variants in the CC2D2A Gene as Causative of Joubert Syndrome
Exome sequencing and RNA analysis identify two novel CPLANE1 variants causing Joubert syndrome
Expanding the Phenotype of the FAM149B1-Related Ciliopathy and Identification of Three Neurogenetic Disorders in a Single Family
Expanding the Phenotypic Spectrum of Pathogenic KIAA0586 Variants: From Joubert Syndrome to Hydrolethalus Syndrome
Eye as the Legend of an Unknown Tale: Joubert Syndrome Masquerading as Duane Retraction Syndrome
Generation of an iPSC line from skin fibroblasts of a patient with Joubert syndrome carrying the homozygous loss of function variant c.787dupC in the AHI1 gene
Generation of iPSC line from a Joubert syndrome patient with compound heterozygous mutations in CPLANE1 gene
Genotype-phenotype correlates in Joubert syndrome: A review
Get Your Molar Tooth Right: Joubert Syndrome Misdiagnosis Unmasked by Whole-Exome Sequencing
Growth in Joubert syndrome: Growth curves and physical measurements with correlation to genotype and hepatorenal disease in 170 individuals
High Incidence of CPLANE1-Related Joubert Syndrome in the Products of Conceptions from Early Pregnancy Losses
Hippocampals neurogenesis is impaired in mice with a deletion in the coiled coil domain of Talpid3-implications for Joubert syndrome
Hydrocephalus associated with a molar tooth sign: A distinct subtype of Joubert syndrome
Identification of TCTN1 gene variants in a fetus with Joubert syndrome 13
Joubert syndrome and hydrocephalus: Further expanding the phenotypic spectrum of a pleiotropic ciliopathy
Joubert syndrome and neurofibromatosis type 1
Joubert syndrome causing mutation in C2 domain of CC2D2A affects structural integrity of cilia and cellular signaling molecules
Joubert syndrome presenting bilateral peroneal neuropathies: A case report
Joubert syndrome type 5 caused by a new compound heterozygous mutation in CEP290
Joubert syndrome-derived induced pluripotent stem cells show altered neuronal differentiation in vitro
Joubert syndrome: a case report of neonatal presentation and early diagnosis
Joubert syndrome: Molecular basis and treatment
LAMA1 variants were identified Joubert syndrome patient
Magnetic resonance imaging of Joubert syndrome associated with Dandy-Walker malformation: pathognomonic imaging
Meckel Gruber and Joubert Syndrome Diagnosed Prenatally: Allelism between the Two Ciliopathies, Complexities of Mutation Types and Digenic Inheritance
Medullary Tegmental Cap Dysplasia: Fetal and Postnatal Presentations of a Unique Brainstem Malformation
Metabolite profiling and bioactivity of Cicerbita alpina (L.) Wallr. (Asteraceae, Cichorieae)
Multiple ciliary localization signals control INPP5E ciliary targeting
Neurological outcomes in immune checkpoint inhibitor-related neurotoxicity
New insights into CC2D2A-related Joubert syndrome
New Insights into the Neuropsychological Profile and Intellectual Quotient Variability in Joubert Syndrome Compared to Other Congenital Cerebellar Malformations
Nocardia brain abscess mimicking tumor progression in an elderly glioblastoma patient treated with temozolomide radiochemotherapy
Non-syndromic Retinal Degeneration Caused by Pathogenic Variants in Joubert Syndrome Genes
Novel CPLANE1 c.8948dupT (p.P2984Tfs*7) variant in a child patient with Joubert syndrome
Novel compound heterozygous variants in ARL13B lead to Joubert syndrome
Novel mutation in RPGRIP1L gene causing Joubert syndrome: A case report
Novel variant CPLANE 1: c.5051C>A (p.Ser1684Ter) in an Indian neonate with Joubert syndrome
Novel variants identified in five Chinese families with Joubert Syndrome: a case report
Ocular Manifestations Leading to a Diagnosis of Joubert Syndrome Related Disorder
Phenotype and genotype analysis of a pedigree affected with Joubert syndrome due to variant of TMEM237 gene
Phenotypic variability in Joubert syndrome is partially explained by ciliary pathophysiology
Prenatal ultrasound in fetuses with polycystic kidney appearance - expanding the diagnostic algorithm
Primary cilia formation requires the Leigh syndrome-associated mitochondrial protein NDUFAF2
Prognostic Value of Persistent CSF Antibodies at 12 Months in Anti-NMDAR Encephalitis
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome
Reply to "Comment: Another Piece of the Puzzle of Anomalous Connectivity in Joubert's Syndrome"
Retinal Degeneration Animal Models in Bardet-Biedl Syndrome and Related Ciliopathies
RNA sequencing reveals deep intronic CEP120 variant: A report of the diagnostic odyssey for two siblings with Joubert syndrome type 31
SOX1 antibody-related paraneoplastic neurological syndromes: clinical correlates and assessment of laboratory diagnostic techniques
Spatial and Ecological Factors Modulate the Incidence of Anti-NMDAR Encephalitis-A Systematic Review
Suspected Autosomal Recessive Polycystic Kidney Disease but Cerebellar Vermis Hypoplasia, Oligophrenia Ataxia, Coloboma, and Hepatic Fibrosis (COACH) Syndrome in Retrospect, A Delayed Diagnosis Aided by Genotyping and Reverse Phenotyping: A Case Report an
Syndromic ciliopathy: a taiwanese single-center study
Systematic analysis of physical examination characteristics of 94 individuals with Joubert syndrome: Keys to suspecting the diagnosis
The expanding spectrum of antibody-associated cerebellar ataxia: report of two new cases of anti-AP3B2 ataxia
The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued
The incidence and outcomes of high-risk acute coronary syndromes in Western Cape Province, South Africa: A prospective cohort study
The Joubert-Meckel-Nephronophthisis Spectrum of Ciliopathies
The role of liver transplantation in COACH syndrome (Joubert syndrome with congenital hepatic fibrosis): A review of the literature
TOPORS as a novel causal gene for Joubert syndrome
Two Siblings Showing a Mild Phenotype of Joubert Syndrome with a Specific CEP290 Variant
Using in vivo cerebellar electroporation to study neuronal cell proliferation and differentiation in a Joubert syndrome mouse model
Variable phenotypes and penetrance between and within different zebrafish ciliary transition zone mutants
Visual function in children with Joubert syndrome