Molar tooth sign in Joubert syndrome: clinical, radiologic, and pathologic significance.
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Joubert Syndrome and related disordersLinkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3.Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation.Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)Congenital basis of posterior fossa anomaliesIdentification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndromeHuntingtin-associated protein 1 interacts with Ahi1 to regulate cerebellar and brainstem development in micePower of the metaphor: forty signs on brain imaging.Clinical and molecular features of Joubert syndrome and related disorders.Role of MR imaging in prenatal diagnosis of pregnancies at risk for Joubert syndrome and related cerebellar disorders.Neuropareidolia: diagnostic clues apropos of visual illusions.Human genetic disorders of axon guidance.Juvenile nephronophthisis and dysthyroidism: a rare associationCerebellar and brainstem development: an overview in relation to Joubert syndrome.Clinical features and revised diagnostic criteria in Joubert syndrome.The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome.The ciliopathies in neuronal development: a clinical approach to investigation of Joubert syndrome and Joubert syndrome-related disorders.Neurophysiologic characterization of motor and sensory projections in Joubert syndrome.In response to the article "joubert syndrome imaging features and illustration of a case"; pol j radiol, 2015; 80: 381-83Joubert syndrome: report of 11 casesGenetic basis of Joubert syndrome and related disorders of cerebellar development.Joubert syndrome: genotyping a Northern European patient cohort.Mutation spectrum of Joubert syndrome and related disorders among Arabs.Consensus Paper: Cerebellar Development.Species differences in the expression of Ahi1, a protein implicated in the neurodevelopmental disorder Joubert syndrome, with preferential accumulation to stigmoid bodies.Joubert syndrome: Clinical and radiological characteristics of nine patientsJoubert syndrome in a neonate: case report with literature reviewRPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders.Eye movement abnormalities in Joubert syndrome.Molecular genetics and pathogenic mechanisms for the severe ciliopathies: insights into neurodevelopment and pathogenesis of neural tube defects.Cilia in cell signaling and human disorders.A report of Joubert syndrome in an infant, with literature review.Diffusion tensor imaging and fiber tractography in brain malformations.Cognition, behavior, and development in Joubert syndrome.Variable laterality of corticospinal tract axons that regenerate after spinal cord injury as a result of PTEN deletion or knock-down.Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel-Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt signalling defects.Functional validation of novel MKS3/TMEM67 mutations in COACH syndrome.Ocular findings in two siblings with Joubert syndrome.Joubert syndrome: Report of a neonatal case.Ataxia, hyperpnoea and mental retardation: was it the molar tooth?
P2860
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P2860
Molar tooth sign in Joubert syndrome: clinical, radiologic, and pathologic significance.
description
1999 nî lūn-bûn
@nan
1999 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի հունիսին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Molar tooth sign in Joubert syndrome: clinical, radiologic, and pathologic significance.
@ast
Molar tooth sign in Joubert syndrome: clinical, radiologic, and pathologic significance.
@en
type
label
Molar tooth sign in Joubert syndrome: clinical, radiologic, and pathologic significance.
@ast
Molar tooth sign in Joubert syndrome: clinical, radiologic, and pathologic significance.
@en
prefLabel
Molar tooth sign in Joubert syndrome: clinical, radiologic, and pathologic significance.
@ast
Molar tooth sign in Joubert syndrome: clinical, radiologic, and pathologic significance.
@en
P2093
P2860
P1476
Molar tooth sign in Joubert syndrome: clinical, radiologic, and pathologic significance.
@en
P2093
A T Yachnis
L C Rosainz
R G Quisling
P2860
P304
P356
10.1177/088307389901400605
P577
1999-06-01T00:00:00Z