| scholarly article | Q13442814 |
| P2093 | author name string | Dan Doherty | |
| Ian A Glass | |||
| Melissa A Parisi | |||
| Phillip F Chance | |||
| P2860 | cites work | The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4 | Q24336477 |
| Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3. | Q24532836 | ||
| Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation | Q24532842 | ||
| Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria | Q24534179 | ||
| Characterization of the NPHP1 locus: mutational mechanism involved in deletions in familial juvenile nephronophthisis. | Q24539086 | ||
| AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome | Q24656002 | ||
| Homozygosity mapping of a third Joubert syndrome locus to 6q23 | Q24675670 | ||
| Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis | Q24678616 | ||
| The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome | Q24680812 | ||
| Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome | Q28239026 | ||
| A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1 | Q28250958 | ||
| Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome | Q28278080 | ||
| Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome | Q28278336 | ||
| AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders | Q28295160 | ||
| Joubert's syndrome: new cases and review of clinicopathologic correlation | Q30577248 | ||
| Clinical nosologic and genetic aspects of Joubert and related syndromes | Q30582278 | ||
| Prenatal diagnosis in pregnancies at risk for Joubert syndrome by ultrasound and MRI. | Q30992442 | ||
| Cerebellar involvement in metabolic disorders: a pattern-recognition approach | Q32045357 | ||
| Molar tooth sign in Joubert syndrome: clinical, radiologic, and pathologic significance | Q33866376 | ||
| Clinical features and revised diagnostic criteria in Joubert syndrome | Q33874309 | ||
| The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome | Q33909988 | ||
| Homozygosity mapping in families with Joubert syndrome identifies a locus on chromosome 9q34.3 and evidence for genetic heterogeneity | Q34146365 | ||
| Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation | Q34240302 | ||
| Joubert syndrome: a review | Q34241001 | ||
| COACH syndrome: report of two brothers with congenital hepatic fibrosis, cerebellar vermis hypoplasia, oligophrenia, ataxia, and mental retardation | Q34402069 | ||
| Follow-up in children with Joubert syndrome | Q34440288 | ||
| Further delineation of a syndrome of cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis | Q34562150 | ||
| Hereditary syndrome of congenital retinal blindness (Leber), polycystic kidneys and maldevelopment of the brain | Q34703069 | ||
| Joubert's syndrome with retinal dysplasia: neonatal tachypnoea as the clue to a genetic brain-eye malformation | Q35118148 | ||
| Gene therapy and animal models for retinal disease | Q35183331 | ||
| Neuronal primary cilia: a review | Q35676032 | ||
| The neuronal primary cilium--an extrasynaptic signaling device | Q35759375 | ||
| The centrosome in human genetic disease | Q36058438 | ||
| Lifting the lid on Pandora's box: the Bardet-Biedl syndrome | Q36139805 | ||
| NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders. | Q43073359 | ||
| Prenatal diagnosis of Joubert syndrome: a case report | Q43866040 | ||
| Autistic features in Joubert syndrome: a genetic disorder with agenesis of the cerebellar vermis | Q44460476 | ||
| Effectiveness of vasopressin V2 receptor antagonists OPC-31260 and OPC-41061 on polycystic kidney disease development in the PCK rat. | Q45281061 | ||
| Joubert-like syndrome unlinked to known candidate loci | Q48024083 | ||
| Joubert syndrome: monozygotic twins with discordant phenotypes | Q48097902 | ||
| Autism and autistic behavior in Joubert syndrome | Q48097925 | ||
| Magnetic resonance imaging features and classification of central nervous system malformations in Joubert syndrome | Q48097938 | ||
| Ocular and oculomotor signs in Joubert syndrome | Q48097944 | ||
| Joubert syndrome associated with Leber amaurosis and multicystic kidneys | Q48322536 | ||
| Molar tooth sign in fetal brain magnetic resonance imaging leading to the prenatal diagnosis of Joubert syndrome and related disorders | Q48450381 | ||
| Nephronophthisis type 1 deletion syndrome with neurological symptoms: prevalence and significance of the association | Q48450633 | ||
| Lack of large, homozygous deletions of the nephronophthisis 1 region in Joubert syndrome type B. APN Study Group. Arbeitsgemeinschaft für Pädiatrische Nephrologie | Q48509967 | ||
| "Joubert syndrome" revisited: key ocular motor signs with magnetic resonance imaging correlation | Q48592525 | ||
| Molar tooth sign and superior vermian dysplasia: a radiological, clinical, and genetic study | Q48616437 | ||
| Quantitative assessment of brainstem development in Joubert syndrome and Dandy-Walker syndrome | Q48736786 | ||
| Distinguishing the four genetic causes of Jouberts syndrome-related disorders | Q48957209 | ||
| Establishing an algorithm for molecular genetic diagnostics in 127 families with juvenile nephronophthisis. | Q52068749 | ||
| Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes. | Q52093171 | ||
| Clinical and histological presentation of 3 siblings with mutations in the NPHP4 gene. | Q52553040 | ||
| From cilia to cyst. | Q55036761 | ||
| Nephronophthisis | Q63979937 | ||
| Closure of the cerebellar vermis: evaluation with second trimester US | Q72837200 | ||
| Prenatal diagnosis of Joubert syndrome complicated with encephalocele using two-dimensional and three-dimensional ultrasound | Q73330686 | ||
| Renal disease in Arima syndrome is nephronophthisis as in other Joubert-related Cerebello-oculo-renal syndromes | Q80598301 | ||
| Joubert syndrome is not a cause of classical autism | Q81231695 | ||
| P433 | issue | 5 | |
| P921 | main subject | Joubert syndrome | Q1101694 |
| Joubert syndrome and related disorders | Q55345933 | ||
| P304 | page(s) | 511-521 | |
| P577 | publication date | 2007-03-21 | |
| P1433 | published in | European Journal of Human Genetics | Q2155433 |
| P1476 | title | Joubert syndrome (and related disorders) (OMIM 213300). | |
| P478 | volume | 15 |
| Q47304331 | A Homozygous Missense Variant in INPP5E Associated with Joubert Syndrome and Related Disorders |
| Q38053503 | A review of the evidence for the canonical Wnt pathway in autism spectrum disorders |
| Q92859407 | Age and sex prevalence estimate of Joubert syndrome in Italy |
| Q28588535 | Ahi1, whose human ortholog is mutated in Joubert syndrome, is required for Rab8a localization, ciliogenesis and vesicle trafficking |
| Q37089615 | Association of common variants in the Joubert syndrome gene (AHI1) with autism |
| Q40224457 | Association of oral-facial-digital syndrome type VI (Varadi-Papp syndrome) with optochiasmatic pilocytic astrocytoma |
| Q24644138 | CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290 |
| Q28305398 | Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis |
| Q37825815 | Cilia in cell signaling and human disorders |
| Q35126782 | Ciliary diffusion barrier: the gatekeeper for the primary cilium compartment |
| Q37369355 | Ciliary dysfunction in developmental abnormalities and diseases |
| Q38759596 | Ciliopathies: Genetics in Pediatric Medicine |
| Q33514006 | Clinical and molecular features of Joubert syndrome and related disorders |
| Q38553412 | Clinical utility gene card for: Joubert syndrome |
| Q55306179 | Co-occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy. |
| Q36840256 | Consensus Paper: Cerebellar Development. |
| Q48720428 | Craniovertebral junction abnormality in a case of Joubert syndrome |
| Q43137540 | DDA: A Novel Network-Based Scoring Method to Identify Disease-Disease Associations |
| Q34246303 | Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI. |
| Q48959079 | Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood |
| Q38071553 | Diffusion tensor imaging and fiber tractography in brain malformations |
| Q55446942 | Effect of chronic unpredictable stress on mice with developmental under-expression of the Ahi1 gene: behavioral manifestations and neurobiological correlates. |
| Q92995595 | Embryonic and foetal expression patterns of the ciliopathy gene CEP164 |
| Q30157309 | Expression, purification, crystallization and preliminary X-ray crystallographic analysis of the SH3 domain of human AHI1 |
| Q37574911 | Eye movement abnormalities in Joubert syndrome |
| Q41580069 | Functional validation of novel MKS3/TMEM67 mutations in COACH syndrome. |
| Q42344202 | Fundus findings in a case of Joubert syndrome |
| Q37018625 | Genetic complexity in Joubert syndrome and related disorders |
| Q41496131 | Hepatorenal fibrocystic diseases in children |
| Q28587677 | Huntingtin-associated protein 1 interacts with Ahi1 to regulate cerebellar and brainstem development in mice |
| Q37585088 | Inherited cerebrorenal syndromes |
| Q27319191 | Investigating embryonic expression patterns and evolution of AHI1 and CEP290 genes, implicated in Joubert syndrome |
| Q24314517 | Jouberin localizes to collecting ducts and interacts with nephrocystin-1 |
| Q21202880 | Joubert Syndrome and related disorders |
| Q37611138 | Joubert syndrome and related disorders, prenatal diagnosis with ultrasound and magnetic resonance imaging |
| Q42545672 | Joubert syndrome associated with severe central sleep apnea |
| Q37261265 | Joubert syndrome in a neonate: case report with literature review |
| Q38011169 | Joubert syndrome presenting with motor delay and oculomotor apraxia |
| Q48661877 | Joubert syndrome: brain and spinal cord malformations in genotyped cases and implications for neurodevelopmental functions of primary cilia |
| Q33580854 | Joubert syndrome: insights into brain development, cilium biology, and complex disease |
| Q48200614 | Joubert syndrome: large clinical variability and a unique neuroimaging aspect |
| Q41811929 | Joubert syndrome: the molar tooth sign of the mid-brain |
| Q38684788 | Joubert syndrome; misleading presentation of two cases as pseudo-tumor cerebri and literature review |
| Q46478045 | Joubert's syndrome and related disorders and home-based peritoneal dialysis in East Africa: a case report |
| Q24633724 | Liver and kidney disease in ciliopathies |
| Q91268391 | Loss of the neurodevelopmental Joubert syndrome causing protein, Ahi1, causes motor and muscle development delays independent of central nervous system involvement |
| Q37331333 | MKS1 regulates ciliary INPP5E levels in Joubert syndrome |
| Q48209091 | MRI with fibre tracking in Cogan congenital oculomotor apraxia |
| Q89483902 | Macular staphyloma in patients affected by Joubert syndrome with retinal dystrophy: a new finding detected by SD-OCT |
| Q47833085 | Many Genes-One Disease? Genetics of Nephronophthisis (NPHP) and NPHP-Associated Disorders. |
| Q24302034 | Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways |
| Q92692779 | Mice with a conditional deletion of Talpid3 (KIAA0586) - a model for Joubert syndrome |
| Q59136971 | Missense variants in in a patient with Joubert syndrome |
| Q28506685 | Modelling a ciliopathy: Ahi1 knockdown in model systems reveals an essential role in brain, retinal, and renal development |
| Q41951101 | Molar tooth sign with ataxia and see-saw nystagmus (Joubert syndrome). |
| Q40643638 | Molecular genetic analysis of 30 families with Joubert syndrome |
| Q52100122 | Mortality in Joubert syndrome. |
| Q43232430 | Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndrome |
| Q36671126 | Mutation spectrum of Joubert syndrome and related disorders among Arabs |
| Q24609805 | Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis) |
| Q24308692 | Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome |
| Q48703535 | NGAL as an early biomarker of kidney disease in Joubert syndrome: three brothers compared |
| Q24601139 | Nephronophthisis |
| Q84587590 | Nephronophthisis |
| Q38428214 | Nephronophthisis 13: implications of its association with Caroli disease and altered intracellular localization of WDR19 in the kidney |
| Q88047162 | Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center |
| Q24320320 | OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin |
| Q41880118 | Ocular findings in two siblings with Joubert syndrome |
| Q40295083 | Orofacial manifestations and dental considerations in association with Varadi-Papp syndrome: report of a rare case |
| Q40783540 | Orofaciodigital syndrome type-VI (Varadi-Papp syndrome) with several Y-shaped metacarpals |
| Q36214423 | PCAN: phenotype consensus analysis to support disease-gene association |
| Q43375820 | Physiotherapy and Rehabilitation in a Child with Joubert Syndrome. |
| Q37574927 | Pontine tegmental cap dysplasia: MR imaging and diffusion tensor imaging features of impaired axonal navigation |
| Q55402530 | Prenatal Diagnosis and Genetic Analysis of a Fetus with Joubert Syndrome. |
| Q39840041 | Prenatal and neonatal MR imaging findings in oral-facial-digital syndrome type VI. |
| Q61811497 | Rescue of cone function in cone-only knockout mouse model with Leber congenital amaurosis phenotype |
| Q28588396 | Retinal degeneration and failure of photoreceptor outer segment formation in mice with targeted deletion of the Joubert syndrome gene, Ahi1 |
| Q60919495 | Review of Ocular Manifestations of Joubert Syndrome |
| Q54558127 | Sleep in Children with Congenital Malformations of the Central Nervous System. |
| Q37010233 | Species differences in the expression of Ahi1, a protein implicated in the neurodevelopmental disorder Joubert syndrome, with preferential accumulation to stigmoid bodies |
| Q27024881 | Spectrum of clinical diseases caused by disorders of primary cilia |
| Q45038715 | TMEM231 Gene Conversion Associated with Joubert and Meckel-Gruber Syndromes in the Same Family |
| Q37610137 | The Ciliopathy Gene ahi1 Is Required for Zebrafish Cone Photoreceptor Outer Segment Morphogenesis and Survival |
| Q28578070 | The characterization of Abelson helper integration site-1 in skeletal muscle and its links to the metabolic syndrome |
| Q48777180 | Two novel mutations in the C-terminal region of centrosomal protein 290 (CEP290) result in classic Joubert syndrome |
| Q57521498 | When is biopsy-proven TIN not simply TIN? Answers |
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