Joubert syndrome 1 is an autosomal recessive disorder caused by mutations of the INPP5E gene.
|Joubert syndrome 01|
|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|
Bielas SL et al. (2009) Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies.
Spampinato MV et al. (2008) Absence of decussation of the superior cerebellar peduncles in patients with Joubert syndrome.
Braddock SR et al. (2007) The face of Joubert syndrome: a study of dysmorphology and anthropometry.
Valente EM et al. (2005) Distinguishing the four genetic causes of Jouberts syndrome-related disorders.
Gould DB et al. (2004) Mutational analysis of BARHL1 and BARX1 in three new patients with Joubert syndrome.
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.
Valente EM et al. (2003) Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation.
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.
Natacci F et al. (2000) Patient with large 17p11.2 deletion presenting with Smith-Magenis syndrome and Joubert syndrome phenotype.
Saar K et al. (1999) Homozygosity mapping in families with Joubert syndrome identifies a locus on chromosome 9q34.3 and evidence for genetic heterogeneity.
Yachnis AT et al. (1999) Neuropathology of Joubert syndrome.
Raynes HR et al. (1999) Joubert syndrome: monozygotic twins with discordant phenotypes.
Fennell EB et al. (1999) Cognition, behavior, and development in Joubert syndrome.
Maria BL et al. (1999) Clinical features and revised diagnostic criteria in Joubert syndrome.
Sztriha L et al. (1999) Joubert's syndrome: new cases and review of clinicopathologic correlation.
Pellegrino JE et al. (1997) Clinical and molecular analysis in Joubert syndrome.
Lindhout D et al. (1980) The Joubert syndrome associated with bilateral chorioretinal coloboma.
Boltshauser E et al. (1981) Joubert syndrome: clinical and polygraphic observations in a further case.
Laverda AM et al. (1984) Chorioretinal coloboma and Joubert syndrome: a nonrandom association.
Egger J et al. (1984) Mohr syndrome variant or Joubert-Boltshauser syndrome?
Haumont D et al. (1983) The Mohr syndrome: are there two variants?
Gustavson KH et al. (1971) Syndrome characterized by lingual malformation, polydactyly, tachypnea, and psychomotor retardation (Mohr syndrome).
Kendall B et al. (1990) Joubert syndrome: a clinico-radiological study.
Cantani A et al. (1990) Joubert syndrome. Review of the fifty-three cases so far published.
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.
Saraiva JM et al. (1992) Joubert syndrome: a review.
Friede RL et al. (1978) Uncommon syndromes of cerebellar vermis aplasia. I: Joubert syndrome.
Boltshauser E et al. (1977) Joubert syndrome: episodic hyperpnea, abnormal eye movements, retardation and ataxia, associated with dysplasia of the cerebellar vermis.
Joubert M et al. (1969) Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation.
Khanna H et al. (2009) A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.
OMIM.ORG articleOmim 213300