Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Joubert syndrome 01

Joubert syndrome 1 is an autosomal recessive disorder caused by mutations of the INPP5E gene.

Systematic

Joubert syndrome
Joubert syndrome 01
INPP5E
Joubert syndrome 02
Joubert syndrome 03
Joubert syndrome 04
Joubert syndrome 05
Joubert syndrome 06
Joubert syndrome 07
Joubert syndrome 08
Joubert syndrome 09
Joubert syndrome 10
Joubert syndrome 11
Joubert syndrome 12
Joubert syndrome 13
Joubert syndrome 14
Joubert syndrome 15
Joubert syndrome 16
Joubert syndrome 17
Joubert syndrome 18
Joubert syndrome 19
Joubert syndrome 20
Joubert syndrome 21
Joubert syndrome 22
Joubert syndrome 23
Joubert syndrome 24
Joubert syndrome 25
Joubert syndrome 26
Joubert syndrome 27
Joubert syndrome 28
Joubert syndrome 29
Joubert syndrome 30
Joubert syndrome 31
Joubert syndrome 32
Joubert syndrome 33
Joubert syndrome 34
Joubert syndrome 35

References:

1.

Bielas SL et al. (2009) Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies.

external link
2.

Spampinato MV et al. (2008) Absence of decussation of the superior cerebellar peduncles in patients with Joubert syndrome.

external link
3.

Braddock SR et al. (2007) The face of Joubert syndrome: a study of dysmorphology and anthropometry.

external link
4.

Valente EM et al. (2005) Distinguishing the four genetic causes of Jouberts syndrome-related disorders.

external link
5.

Gould DB et al. (2004) Mutational analysis of BARHL1 and BARX1 in three new patients with Joubert syndrome.

external link
6.

Keeler LC et al. (2003) Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3.

external link
7.

Valente EM et al. (2003) Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation.

external link
8.

Blair IP et al. (2002) Search for genes involved in Joubert syndrome: evidence that one or more major loci are yet to be identified and exclusion of candidate genes EN1, EN2, FGF8, and BARHL1.

external link
9.

Natacci F et al. (2000) Patient with large 17p11.2 deletion presenting with Smith-Magenis syndrome and Joubert syndrome phenotype.

external link
10.

Saar K et al. (1999) Homozygosity mapping in families with Joubert syndrome identifies a locus on chromosome 9q34.3 and evidence for genetic heterogeneity.

external link
11.

Yachnis AT et al. (1999) Neuropathology of Joubert syndrome.

external link
12.

Raynes HR et al. (1999) Joubert syndrome: monozygotic twins with discordant phenotypes.

external link
13.

Fennell EB et al. (1999) Cognition, behavior, and development in Joubert syndrome.

external link
14.

Maria BL et al. (1999) Clinical features and revised diagnostic criteria in Joubert syndrome.

external link
15.

Sztriha L et al. (1999) Joubert's syndrome: new cases and review of clinicopathologic correlation.

external link
16.

Pellegrino JE et al. (1997) Clinical and molecular analysis in Joubert syndrome.

external link
17.

Lindhout D et al. (1980) The Joubert syndrome associated with bilateral chorioretinal coloboma.

external link
18.

Boltshauser E et al. (1981) Joubert syndrome: clinical and polygraphic observations in a further case.

external link
19.

Laverda AM et al. (1984) Chorioretinal coloboma and Joubert syndrome: a nonrandom association.

external link
20.

Egger J et al. (1984) Mohr syndrome variant or Joubert-Boltshauser syndrome?

external link
21.

Haumont D et al. (1983) The Mohr syndrome: are there two variants?

external link
22.

Gustavson KH et al. (1971) Syndrome characterized by lingual malformation, polydactyly, tachypnea, and psychomotor retardation (Mohr syndrome).

external link
23.

Kendall B et al. (1990) Joubert syndrome: a clinico-radiological study.

external link
24.

Cantani A et al. (1990) Joubert syndrome. Review of the fifty-three cases so far published.

external link
25.

van Dorp DB et al. (1991) Joubert syndrome: a clinical and pathological description of an affected male and a female fetus from the same sibship.

external link
26.

Saraiva JM et al. (1992) Joubert syndrome: a review.

external link
27.

Friede RL et al. (1978) Uncommon syndromes of cerebellar vermis aplasia. I: Joubert syndrome.

external link
28.

Boltshauser E et al. (1977) Joubert syndrome: episodic hyperpnea, abnormal eye movements, retardation and ataxia, associated with dysplasia of the cerebellar vermis.

external link
29.

Joubert M et al. (1969) Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation.

external link
30.

Khanna H et al. (2009) A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.

external link
31.

OMIM.ORG article

Omim 213300 external link
Update: Aug. 14, 2020
Copyright © 2005-2024 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues | Website Credits