Clinical features and revised diagnostic criteria in Joubert syndrome.
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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.Autosomal recessive cerebellar ataxia with oculomotor apraxia (ataxia-telangiectasia-like syndrome) is linked to chromosome 9q34Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndromeCerebellar development and diseaseClinical and neuroimaging features as diagnostic guides in neonatal neurology diseases with cerebellar involvementLoss of Ahi1 affects early development by impairing BM88/Cend1-mediated neuronal differentiationAHI-1: a novel signaling protein and potential therapeutic target in human leukemia and brain disorders.Cilia-mediated Hedgehog signaling controls form and function in the mammalian larynx.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.Joubert syndrome: insights into brain development, cilium biology, and complex disease.Normal breathing requires preBötzinger complex neurokinin-1 receptor-expressing neurons.Brain imaging studies in Leber's congenital amaurosis: new radiologic findings associated with the complex traitThe NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome.Functional Interactions between BM88/Cend1, Ran-binding protein M and Dyrk1B kinase affect cyclin D1 levels and cell cycle progression/exit in mouse neuroblastoma cells.Adult-onset bulbar ptosis in Joubert syndrome.Impaired hypercarbic and hypoxic responses from developmental loss of cerebellar Purkinje neurons: implications for sudden infant death syndrome.Using the avian mutant talpid2 as a disease model for understanding the oral-facial phenotypes of oral-facial-digital syndromeGenetic 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.Utilizing the chicken as an animal model for human craniofacial ciliopathies.Joubert syndrome: Clinical and radiological characteristics of nine patientsSemaphorin-6A controls guidance of corticospinal tract axons at multiple choice pointsNosological delineation of congenital ocular motor apraxia type Cogan: an observational study.Arl13b Interacts With Vangl2 to Regulate Cilia and Photoreceptor Outer Segment Length in Zebrafish.Joubert syndrome in a neonate: case report with literature reviewA neonate with Joubert syndrome presenting with symptoms of Horner syndrome.Eye movement abnormalities in Joubert syndrome.Cerebellar vermis hypoplasia in a patient with Bardet-Biedl syndrome.Unmasking the ciliopathies: craniofacial defects and the primary cilium.Prenatal and neonatal MR imaging findings in oral-facial-digital syndrome type VI.A child with delayed milestones and interesting findings on MR.Joubert syndrome: the molar tooth sign of the mid-brain.Ocular findings in two siblings with Joubert syndrome.Joubert syndrome with variable features: presentation of two cases.Joubert syndrome: Report of a neonatal case.
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P2860
Clinical features and revised diagnostic criteria in Joubert syndrome.
description
1999 nî lūn-bûn
@nan
1999 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի սեպտեմբերին 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
Clinical features and revised diagnostic criteria in Joubert syndrome.
@ast
Clinical features and revised diagnostic criteria in Joubert syndrome.
@en
type
label
Clinical features and revised diagnostic criteria in Joubert syndrome.
@ast
Clinical features and revised diagnostic criteria in Joubert syndrome.
@en
prefLabel
Clinical features and revised diagnostic criteria in Joubert syndrome.
@ast
Clinical features and revised diagnostic criteria in Joubert syndrome.
@en
P2093
P2860
P1476
Clinical features and revised diagnostic criteria in Joubert syndrome.
@en
P2093
E Boltshauser
S C Palmer
P2860
P304
583-90; discussion 590-1
P356
10.1177/088307389901400906
P577
1999-09-01T00:00:00Z