(Q46979992)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17898198%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

title

Diffusion tensor imaging in Joubert syndrome (English)

1 reference

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8 January 2020

main subject

diffusion tensor imaging

1 reference

1

1 reference

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8 January 2020

Enza Maria Valente

4

1 reference

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8 January 2020

Thierry A.G.M. Huisman

7

object named as

Huisman TA

1 reference

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8 January 2020

author name string

Boltshauser E

2

1 reference

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8 January 2020

Loenneker T

3

1 reference

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8 January 2020

Brancati F

5

1 reference

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8 January 2020

Il'yasov K

6

1 reference

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8 January 2020

publication date

26 September 2007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17898198%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Neuroradiology

8 January 2020

published in

1 reference

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8 January 2020

volume

28

1 reference

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8 January 2020

issue

10

1 reference

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8 January 2020

page(s)

1929-1933

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

8 January 2020

cites work

1 reference

https://api.crossref.org/works/10.3174%2FAJNR.A0703

Joubert syndrome: a review

21 January 2018

1 reference

https://api.crossref.org/works/10.3174%2FAJNR.A0703

Homozygosity mapping of a third Joubert syndrome locus to 6q23

21 January 2018

1 reference

https://api.crossref.org/works/10.3174%2FAJNR.A0703

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3174%2FAJNR.A0703

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3174%2FAJNR.A0703

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/10.3174%2FAJNR.A0703

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3174%2FAJNR.A0703

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3174%2FAJNR.A0703

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3174%2FAJNR.A0703

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3174%2FAJNR.A0703

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/10.3174%2FAJNR.A0703

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3174%2FAJNR.A0703

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/10.3174%2FAJNR.A0703

Neuropathology of Joubert syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.3174%2FAJNR.A0703

Diffusion tensor imaging of midline posterior fossa malformations

21 January 2018

1 reference

https://api.crossref.org/works/10.3174%2FAJNR.A0703

Reduction of eddy-current-induced distortion in diffusion MRI using a twice-refocused spin echo

21 January 2018

1 reference

https://api.crossref.org/works/10.3174%2FAJNR.A0703

Microstructural and physiological features of tissues elucidated by quantitative-diffusion-tensor MRI

21 January 2018

1 reference

https://api.crossref.org/works/10.3174%2FAJNR.A0703

MR imaging of Joubert's syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.3174%2FAJNR.A0703

Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.3174%2FAJNR.A0703

Diffusion tensor MRI shows abnormal brainstem crossing fibers associated with ROBO3 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.3174%2FAJNR.A0703

21 January 2018

Identifiers

DOI

10.3174/AJNR.A0703

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17898198%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

1 reference