(Q36294694)

13 August 2017

1 reference

title

Genetic basis of Joubert syndrome and related disorders of cerebellar development (English)

1 reference

Joubert syndrome and related disorders

13 August 2017

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1 reference

2

Joseph G Gleeson

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13 August 2017

Carrie M Louie

1

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13 August 2017

1 October 2005

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13 August 2017

Human Molecular Genetics

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13 August 2017

14 Spec No. 2

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13 August 2017

R235-42

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"Joubert syndrome" revisited: key ocular motor signs with magnetic resonance imaging correlation.

13 August 2017

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

Joubert Syndrome: Episodic Hyperpnea, Abnormal Eye Movements, Retardation and Ataxia, Associated with Dysplasia of the Cerebellar Vermis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

Clinical features and revised diagnostic criteria in Joubert syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

Autistic features in Joubert syndrome: a genetic disorder with agenesis of the cerebellar vermis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

Autism and autistic behavior in Joubert syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

COACH syndrome: report of two brothers with congenital hepatic fibrosis, cerebellar vermis hypoplasia, oligophrenia, ataxia, and mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

Further delineation of a syndrome of cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

Joubert's syndrome with retinal dysplasia: neonatal tachypnoea as the clue to a genetic brain-eye malformation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

Joubert syndrome associated with Leber amaurosis and multicystic kidneys.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

Joubert syndrome with congenital hepatic fibrosis: an entity in the spectrum of oculo-encephalo-hepato-renal disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

Joubert-Boltshauser syndrome with polydactyly in siblings

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

Joubert syndrome associated with unilateral ptosis and Leber congenital amaurosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

Neuropathology of Joubert syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

The corticospinal system: from development to motor control

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

Rostral Cerebellum Originates from the Caudal Portion of the So-Called 'Mesencephalic' Vesicle: A Study Using Chick/Quail Chimeras.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

Induction of a mesencephalic phenotype in the 2-day-old chick prosencephalon is preceded by the early expression of the homeobox gene en.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

Fgf-8 expression in the post-gastrulation mouse suggests roles in the development of the face, limbs and central nervous system.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

Midbrain development induced by FGF8 in the chick embryo.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

Expression of the homeo box-containing gene En-2 delineates a specific region of the developing mouse brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

Expression of an engrailed-like gene during development of the early embryonic chick nervous system.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

Pax-5 is expressed at the midbrain-hindbrain boundary during mouse development

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

Pax-2 expression in the murine neural plate precedes and encompasses the expression domains of Wnt-1 and En-1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

Early anterior/posterior patterning of the midbrain and cerebellum

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

Histogenesis of the deep cerebellar nuclei in the mouse: an autoradiographic study

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

Prenatal development of the cerebellar system in the rat. I. Cytogenesis and histogenesis of the deep nuclei and the cortex of the cerebellum.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

Control of neuronal precursor proliferation in the cerebellum by Sonic Hedgehog

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

Evolutionary conservation of sequence and expression of the bHLH protein Atonal suggests a conserved role in neurogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

Embryonic precursor cells from the rhombic lip are specified to a cerebellar granule neuron identity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

A novel zinc finger protein, zic, is involved in neurogenesis, especially in the cell lineage of cerebellar granule cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

Mechanisms of neural patterning and specification in the developing cerebellum

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

Genetic regulation of cerebellar development

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

Molar tooth sign in Joubert syndrome: clinical, radiologic, and pathologic significance

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

Swaying is a mutant allele of the proto-oncogene Wnt-1

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

An Fgf8 mutant allelic series generated by Cre- and Flp-mediated recombination

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

Subtle Cerebellar Phenotype in Mice Homozygous for a Targeted Deletion of the En-2 Homeobox

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

Clinical and molecular analysis in Joubert syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

The role of Zic genes in neural development.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

The ZIC gene family in development and disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

Behavioral abnormalities of Zic1 and Zic2 mutant mice: implications as models for human neurological disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

Joubert syndrome: a haplotype segregation strategy and exclusion of the zinc finger protein of cerebellum 1 (ZIC1) gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

Homozygosity mapping in families with Joubert syndrome identifies a locus on chromosome 9q34.3 and evidence for genetic heterogeneity

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

Homozygosity mapping of a third Joubert syndrome locus to 6q23

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

Distinguishing the four genetic causes of Jouberts syndrome-related disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

Ahi-1, a novel gene encoding a modular protein with WD40-repeat and SH3 domains, is targeted by the Ahi-1 and Mis-2 provirus integrations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

The WD repeat: a common architecture for diverse functions

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

Cerebellar and brainstem involvement in familial juvenile nephronophthisis type I.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

Characterization of the nephrocystin/nephrocystin-4 complex and subcellular localization of nephrocystin-4 to primary cilia and centrosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

Inversin, a novel gene in the vertebrate left-right axis pathway, is partially deleted in the inv mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

To beat or not to beat: roles of cilia in development and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

Abnormal nodal flow precedes situs inversus in iv and inv mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

Functional characterization of the C. elegans nephrocystins NPHP-1 and NPHP-4 and their role in cilia and male sensory behaviors.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

Inversin forms a complex with catenins and N-cadherin in polarized epithelial cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

Expression analyses and interaction with the anaphase promoting complex protein Apc2 suggest a role for inversin in primary cilia and involvement in the cell cycle

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

Inversin, the gene product mutated in nephronophthisis type II, functions as a molecular switch between Wnt signaling pathways

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

Cerebro-oculo-hepato-renal syndrome (Arima' syndrome): a distinct clinicopathological entity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

Bardet-Biedl syndrome: a molecular and phenotypic study of 18 families

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

The oligogenic properties of Bardet-Biedl syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

Lifting the lid on Pandora's box: the Bardet-Biedl syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

Retinal and neurologic findings in the Laurence-Moon-Bardet-Biedl phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

A patient with features of both Bardet-Biedl and Alström syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

Cerebellar vermis hypoplasia in a patient with Bardet-Biedl syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3)

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

Identification of the gene that, when mutated, causes the human obesity syndrome BBS4.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

Mutations in MKKS cause Bardet-Biedl syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2)

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

Microtubule transport defects in neurological and ciliary disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

21 January 2018

Intraflagellar Transport

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

Cilium-generated signaling and cilia-related disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

Intraflagellar transport and the flagellar tip complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

A motility in the eukaryotic flagellum unrelated to flagellar beating

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

Chlamydomonas kinesin-II-dependent intraflagellar transport (IFT): IFT particles contain proteins required for ciliary assembly in Caenorhabditis elegans sensory neurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

Chlamydomonas IFT88 and its mouse homologue, polycystic kidney disease gene tg737, are required for assembly of cilia and flagella

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

Loss of C. elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transport

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

Hedgehog signalling in the mouse requires intraflagellar transport proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

Mouse intraflagellar transport proteins regulate both the activator and repressor functions of Gli transcription factors

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

Neuronal primary cilia: a review

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

The neuronal primary cilium--an extrasynaptic signaling device

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

21 January 2018

The purkinje cell cilium

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

Studies on the developing cerebellum. II. The ultrastructure of the external granular layer

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

Bending the MDCK cell primary cilium increases intracellular calcium

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

Bending the primary cilium opens Ca2+-sensitive intermediate-conductance K+ channels in MDCK cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

Selective targeting of somatostatin receptor 3 to neuronal cilia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

Localization of five somatostatin receptors in the rat central nervous system using subtype-specific antibodies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

Localization of 5-HT(6) receptors at the plasma membrane of neuronal cilia in the rat brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI264

21 January 2018

Identifiers

DOI

10.1093/HMG/DDI264

1 reference

13 August 2017

1 reference

PubMed ID

16244321