(Q30582278)

25 June 2017

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title

Clinical nosologic and genetic aspects of Joubert and related syndromes (English)

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25 June 2017

P F Chance

1

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25 June 2017

L Cavalier

2

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25 June 2017

D Satran

3

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25 June 2017

J E Pellegrino

4

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25 June 2017

M Koenig

5

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25 June 2017

W B Dobyns

6

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25 June 2017

publication date

1 October 1999

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Journal of Child Neurology

25 June 2017

published in

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25 June 2017

volume

14

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25 June 2017

issue

10

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25 June 2017

page(s)

660-6; discussion 669-72

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

25 June 2017

cites work

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401007

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/10.1177%2F088307389901401007

Joubert syndrome: a review

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401007

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401007

Follow-up in children with Joubert syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401007

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401007

Juvenile Familial Nephropathy with Tapetoretinal Degeneration*

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401007

Hereditary renal dysplasia and blindness

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401007

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/10.1177%2F088307389901401007

Refined mapping of a gene (NPH1) causing familial juvenile nephronophthisis and evidence for genetic heterogeneity

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401007

Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401007

Clinical and molecular analysis in Joubert syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401007

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401007

Many tumors induced by the mouse mammary tumor virus contain a provirus integrated in the same region of the host genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401007

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401007

Molecular cloning of the human proto-oncogene Wnt-5A and mapping of the gene (WNT5A) to chromosome 3p14-p21

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401007

Molecular cloning and chromosomal localization to 17q21 of the human WNT3 gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401007

Expression during embryogenesis of a mouse gene with sequence homology to the Drosophila engrailed gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401007

En-1 and En-2, two mouse genes with sequence homology to the Drosophila engrailed gene: expression during embryogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401007

Regional assignment of the human homeobox-containing gene EN1 to chromosome 2q13-q21

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401007

Isolation and chromosomal localization of the human En-2 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401007

Localization of the Usher syndrome type ID gene (Ush1D) to chromosome 10.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401007

Localisation of a Fanconi anaemia gene to chromosome 9p.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401007

CHARGE and Joubert syndromes: are they a single disorder?

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401007

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401007

Algorithms for a location database

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401007

The 1993-94 Généthon human genetic linkage map

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401007

A comprehensive genetic map of the human genome based on 5,264 microsatellites

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401007

Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401007

Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401007

Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401007

A cerebellar ataxia locus identified by DNA pooling to search for linkage disequilibrium in an isolated population from the Cayman Islands

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389901401007

10.1177/088307389901401007

21 January 2018

Identifiers

DOI

1 reference

25 June 2017

1 reference