(Q48592525)

13 February 2018

title

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

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13 February 2018

author name string

B L Maria

1

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13 February 2018

K B Hoang

2

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13 February 2018

R J Tusa

3

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13 February 2018

A A Mancuso

4

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13 February 2018

L M Hamed

5

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13 February 2018

R G Quisling

6

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13 February 2018

M T Hove

7

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13 February 2018

E B Fennell

8

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13 February 2018

M Booth-Jones

9

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13 February 2018

D M Ringdahl

10

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13 February 2018

A T Yachnis

11

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13 February 2018

G Creel

12

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13 February 2018

B Frerking

13

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13 February 2018

publication date

1 October 1997

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13 February 2018

Journal of Child Neurology

published in

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13 February 2018

volume

12

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13 February 2018

issue

7

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13 February 2018

page(s)

423-430

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13 February 2018

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

cites work

1 reference

https://api.crossref.org/works/10.1177%2F088307389701200703

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

21 January 2018

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Joubert syndrome: a clinico-radiological study

21 January 2018

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Vermian agenesis and unsegmented midbrain tectum. Case report

21 January 2018

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Joubert-Boltshauser syndrome with polydactyly in siblings

21 January 2018

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Chorioretinal coloboma and Joubert syndrome: a nonrandom association.

21 January 2018

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

21 January 2018

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The Joubert syndrome associated with bilateral chorioretinal coloboma.

21 January 2018

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Joubert syndrome: a clinical and pathological description of an affected male and a female fetus from the same sibship

21 January 2018

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

21 January 2018

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Joubert syndrome: a review

21 January 2018

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

21 January 2018

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MRI of Joubert's syndrome.

21 January 2018

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Joubert's syndrome associated with congenital ocular fibrosis and histidinemia.

21 January 2018

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A syndrome of congenital retinal dystrophy and saccade palsy--a subset of Leber's amaurosis

21 January 2018

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The prenatal diagnosis of Joubert's syndrome of familial agenesis of the cerebellar vermis.

21 January 2018

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Mechanisms of neural patterning and specification in the developing cerebellum

21 January 2018

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21 January 2018

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Expression patterns of the homeo box-containing genes En-1 and En-2 and the proto-oncogene int-1 diverge during mouse development.

21 January 2018

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The midbrain-hindbrain phenotype of Wnt-1-/Wnt-1- mice results from stepwise deletion of engrailed-expressing cells by 9.5 days postcoitum.

21 January 2018

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Targeted disruption of the murine int-1 proto-oncogene resulting in severe abnormalities in midbrain and cerebellar development

21 January 2018

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Antigenic markers of cerebellar modules in the adult mouse

21 January 2018

1 reference

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10.1177/088307389701200703

21 January 2018

Identifiers

DOI

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13 February 2018

PubMed ID

9373798

1 reference

13 February 2018