(Q48450381)

11 February 2018

title

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

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11 February 2018

Joubert syndrome and related disorders

main subject

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Joel Fluss

1

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11 February 2018

Susan Blaser

2

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11 February 2018

David Chitayat

3

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11 February 2018

Hani Akoury

4

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11 February 2018

Phyllis Glanc

5

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11 February 2018

Martin Skidmore

6

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11 February 2018

Charles Raybaud

7

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11 February 2018

publication date

1 April 2006

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11 February 2018

Journal of Child Neurology

published in

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11 February 2018

volume

21

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11 February 2018

issue

4

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11 February 2018

page(s)

320-324

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11 February 2018

Clinical features and revised diagnostic criteria in Joubert syndrome

cites work

1 reference

https://api.crossref.org/works/10.1177%2F08830738060210041001

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

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

21 January 2018

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Neuropathology of Joubert syndrome

21 January 2018

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

21 January 2018

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

21 January 2018

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https://api.crossref.org/works/10.1177%2F08830738060210041001

Prenatal diagnosis of Joubert syndrome: a case report

21 January 2018

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Prenatal sonographic diagnosis of vermal agenesis

21 January 2018

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https://api.crossref.org/works/10.1177%2F08830738060210041001

MRI of the fetal posterior fossa

21 January 2018

1 reference

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738060210041001

Human malformations of the midbrain and hindbrain: review and proposed classification scheme

21 January 2018

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https://api.crossref.org/works/10.1177%2F08830738060210041001

Dandy-Walker malformation: prenatal diagnosis and prognosis

21 January 2018

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Clinical nosologic and genetic aspects of Joubert and related syndromes

21 January 2018

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https://api.crossref.org/works/10.1177%2F08830738060210041001

Oral-facial-digital syndrome type VI (Váradi syndrome): further clinical delineation

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

1 reference

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738060210041001

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

21 January 2018

1 reference

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

21 January 2018

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Development and malformations of the cerebellum in mice

21 January 2018

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Cerebellar and brainstem development: an overview in relation to Joubert syndrome

21 January 2018

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Malformations of the posterior fossa: current perspectives

21 January 2018

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

21 January 2018

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The ZIC gene family in development and disease.

21 January 2018

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Locomotor and oculomotor impairment associated with cerebellar dysgenesis in Zic3-deficient (Bent tail) mutant mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738060210041001

10.1177/08830738060210041001

21 January 2018

Identifiers

DOI

1 reference

11 February 2018

1 reference

11 February 2018