"Joubert syndrome" revisited: key ocular motor signs with magnetic resonance imaging correlation.
about
Joubert Syndrome and related disordersMutations in the cilia gene ARL13B lead to the classical form of Joubert syndromeOFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilinLinkage 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 the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria.AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndromeCEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disordersInositol polyphosphate 5-phosphatases; new players in the regulation of cilia and ciliopathiesInvestigating embryonic expression patterns and evolution of AHI1 and CEP290 genes, implicated in Joubert syndromeMutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndromeIdentification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndromeModelling a ciliopathy: Ahi1 knockdown in model systems reveals an essential role in brain, retinal, and renal developmentAHI-1: a novel signaling protein and potential therapeutic target in human leukemia and brain disorders.Emotions and their cognitive control in children with cerebellar tumors.Clinical nosologic and genetic aspects of Joubert and related syndromes.Genetics of the polymicrogyria syndromes.Clinical and molecular features of Joubert syndrome and related disorders.Joubert syndrome: insights into brain development, cilium biology, and complex disease.Cerebellar and brainstem development: an overview in relation to Joubert syndrome.Neurogenetics of the cerebellar system.Molar tooth sign in Joubert syndrome: clinical, radiologic, and pathologic significance.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.Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophyPurkinje cell compartmentalization in the cerebellum of the spontaneous mutant mouse dreherHomozygosity mapping in families with Joubert syndrome identifies a locus on chromosome 9q34.3 and evidence for genetic heterogeneityDelineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI.Mutations in CSPP1 lead to classical Joubert syndrome.MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvementThe ciliopathy gene cc2d2a controls zebrafish photoreceptor outer segment development through a role in Rab8-dependent vesicle trafficking.Joubert syndrome: report of 11 casesThe Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking.A missense mutation in TMEM67 causes Meckel-Gruber syndrome type 3 (MKS3): a family from China.KIAA0586 is Mutated in Joubert SyndromeGenetic basis of Joubert syndrome and related disorders of cerebellar development.Whole-exome sequencing and digital PCR identified a novel compound heterozygous mutation in the NPHP1 gene in a case of Joubert syndrome and related disorders.Joubert Syndrome in French Canadians and Identification of Mutations in CEP104Mutation spectrum of Joubert syndrome and related disorders among Arabs.Species differences in the expression of Ahi1, a protein implicated in the neurodevelopmental disorder Joubert syndrome, with preferential accumulation to stigmoid bodies.
P2860
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P2860
"Joubert syndrome" revisited: key ocular motor signs with magnetic resonance imaging correlation.
description
1997 nî lūn-bûn
@nan
1997年の論文
@ja
1997年学术文章
@wuu
1997年学术文章
@zh
1997年学术文章
@zh-cn
1997年学术文章
@zh-hans
1997年学术文章
@zh-my
1997年学术文章
@zh-sg
1997年學術文章
@yue
1997年學術文章
@zh-hant
name
"Joubert syndrome" revisited: ...... resonance imaging correlation.
@en
"Joubert syndrome" revisited: ...... resonance imaging correlation.
@nl
type
label
"Joubert syndrome" revisited: ...... resonance imaging correlation.
@en
"Joubert syndrome" revisited: ...... resonance imaging correlation.
@nl
prefLabel
"Joubert syndrome" revisited: ...... resonance imaging correlation.
@en
"Joubert syndrome" revisited: ...... resonance imaging correlation.
@nl
P2093
P2860
P1476
"Joubert syndrome" revisited: ...... resonance imaging correlation.
@en
P2093
A A Mancuso
A T Yachnis
B Frerking
D M Ringdahl
E B Fennell
M Booth-Jones
P2860
P304
P356
10.1177/088307389701200703
P577
1997-10-01T00:00:00Z