[Cerebellar vermis hypoplasia with extracerebral involvement (retina, kidney, liver): difficult to classify syndromes]. (Q32089477)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11232461%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

title

Cerebellar vermis hypoplasia with extracerebral involvement (retina, kidney, liver): difficult to classify syndromes (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11232461%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

0 references

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11232461%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

Georges Deschenes

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11232461%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

author name string

D Graber

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11232461%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

A Coulin

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11232461%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

Y Hermouet

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11232461%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

J M Pedespan

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11232461%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

D Fontan

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11232461%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

G Ponsot

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11232461%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

language of work or name

French

0 references

publication date

1 February 2001

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11232461%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

published in

Archives de Pediatrie

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11232461%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

volume

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11232461%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11232461%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

page(s)

186-190

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11232461%20AND%20SRC:MED&resulttype=core&format=json

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

5 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0929-693X%2800%2900183-4

7 January 2021

Renal-retinal syndromes: association of retinal anomalies and recessive nephronophthisis in patients with homozygous deletion of the NPH1 locus

1 reference

https://api.crossref.org/works/10.1016%2FS0929-693X%2800%2900183-4

7 January 2021

A gene for familial juvenile nephronophthisis (recessive medullary cystic kidney disease) maps to chromosome 2p

1 reference

https://api.crossref.org/works/10.1016%2FS0929-693X%2800%2900183-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0929-693X%2800%2900183-4

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/10.1016%2FS0929-693X%2800%2900183-4

7 January 2021

Renal insufficiency is a component of COACH syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0929-693X%2800%2900183-4

7 January 2021

Joubert syndrome with congenital hepatic fibrosis: an entity in the spectrum of oculo-encephalo-hepato-renal disorders

1 reference

https://api.crossref.org/works/10.1016%2FS0929-693X%2800%2900183-4

7 January 2021

Joubert syndrome associated with multicystic kidney disease and hepatic fibrosis.

1 reference

https://api.crossref.org/works/10.1016%2FS0929-693X%2800%2900183-4

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

https://api.crossref.org/works/10.1016%2FS0929-693X%2800%2900183-4

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/10.1016%2FS0929-693X%2800%2900183-4

7 January 2021

10.1016/S0929-693X(00)00183-4

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11232461%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

1 reference