Joubert syndrome (and related disorders) (OMIM 213300). (Q48232417)

9 February 2018

title

Joubert syndrome (and related disorders) (OMIM 213300). (English)

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9 February 2018

Joubert syndrome and related disorders

main subject

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Melissa A Parisi

1

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9 February 2018

Dan Doherty

series ordinal

2

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9 February 2018

Phillip F Chance

series ordinal

3

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9 February 2018

Ian A Glass

series ordinal

4

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9 February 2018

publication date

21 March 2007

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9 February 2018

European Journal of Human Genetics

published in

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9 February 2018

volume

15

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9 February 2018

page(s)

511-521

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9 February 2018

issue

5

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9 February 2018

https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201648

exact match

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cites work

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201648

7 January 2021

Joubert syndrome: a review

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201648

7 January 2021

Follow-up in children with Joubert syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201648

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201648

7 January 2021

Clinical features and revised diagnostic criteria in Joubert syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201648

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201648

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201648

7 January 2021

Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201648

7 January 2021

Clinical nosologic and genetic aspects of Joubert and related syndromes

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201648

7 January 2021

Quantitative assessment of brainstem development in Joubert syndrome and Dandy-Walker syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201648

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201648

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201648

7 January 2021

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

1 reference

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7 January 2021

Autism and autistic behavior in Joubert syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201648

7 January 2021

Joubert syndrome is not a cause of classical autism

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201648

7 January 2021

Ocular and oculomotor signs in Joubert syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201648

7 January 2021

Joubert syndrome associated with Leber amaurosis and multicystic kidneys.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201648

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201648

7 January 2021

Cerebellar involvement in metabolic disorders: a pattern-recognition approach

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201648

7 January 2021

Hereditary syndrome of congenital retinal blindness (Leber), polycystic kidneys and maldevelopment of the brain

1 reference

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7 January 2021

Lack of large, homozygous deletions of the nephronophthisis 1 region in Joubert syndrome type B. APN Study Group. Arbeitsgemeinschaft für Pädiatrische Nephrologie.

1 reference

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7 January 2021

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201648

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7 January 2021

Renal disease in Arima syndrome is nephronophthisis as in other Joubert-related Cerebello-oculo-renal syndromes

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201648

7 January 2021

AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201648

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201648

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201648

7 January 2021

Magnetic resonance imaging features and classification of central nervous system malformations in Joubert syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201648

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201648

7 January 2021

Characterization of the NPHP1 locus: mutational mechanism involved in deletions in familial juvenile nephronophthisis.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201648

7 January 2021

Clinical and histological presentation of 3 siblings with mutations in the NPHP4 gene.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201648

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201648

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201648

7 January 2021

Nephronophthisis type 1 deletion syndrome with neurological symptoms: prevalence and significance of the association.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201648

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201648

7 January 2021

Homozygosity mapping of a third Joubert syndrome locus to 6q23

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201648

7 January 2021

Molar tooth sign and superior vermian dysplasia: a radiological, clinical, and genetic study.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201648

7 January 2021

Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201648

7 January 2021

AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201648

7 January 2021

The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201648

7 January 2021

Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201648

7 January 2021

Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201648

7 January 2021

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201648

1 reference

7 January 2021

Neuronal primary cilia: a review

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201648

7 January 2021

The neuronal primary cilium--an extrasynaptic signaling device

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201648

7 January 2021

The centrosome in human genetic disease

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201648

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201648

7 January 2021

Joubert's syndrome: new cases and review of clinicopathologic correlation

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201648

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201648

7 January 2021

Joubert-like syndrome unlinked to known candidate loci.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201648

7 January 2021

Establishing an algorithm for molecular genetic diagnostics in 127 families with juvenile nephronophthisis.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201648

7 January 2021

Joubert syndrome: monozygotic twins with discordant phenotypes.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201648

7 January 2021

Prenatal diagnosis of Joubert syndrome complicated with encephalocele using two-dimensional and three-dimensional ultrasound

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201648

7 January 2021

Closure of the cerebellar vermis: evaluation with second trimester US

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201648

7 January 2021

Molar tooth sign in fetal brain magnetic resonance imaging leading to the prenatal diagnosis of Joubert syndrome and related disorders.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201648

7 January 2021

Prenatal diagnosis of Joubert syndrome: a case report

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201648

7 January 2021

Prenatal diagnosis in pregnancies at risk for Joubert syndrome by ultrasound and MRI.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201648

7 January 2021

Effectiveness of vasopressin V2 receptor antagonists OPC-31260 and OPC-41061 on polycystic kidney disease development in the PCK rat.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201648

7 January 2021

Gene therapy and animal models for retinal disease

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201648

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201648

7 January 2021

The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201648

7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5201648

1 reference

9 February 2018

PubMed ID

17377524

1 reference

9 February 2018