Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Joubert-Syndrom 01

Das Joubert-Syndrom 1 ist eine autosomal rezessive Erkrankung, die durch Mutationen im INPP5E-Gen hervorgerufen wird.

Gliederung

Joubert-Syndrom
Joubert-Syndrom 01
INPP5E
Joubert-Syndrom 02
Joubert-Syndrom 03
Joubert-Syndrom 04
Joubert-Syndrom 05
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Joubert-Syndrom 17
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Joubert-Syndrom 35

Referenzen:

1.

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

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2.

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

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3.

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

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4.

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

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5.

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

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6.

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

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7.

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.

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8.

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

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9.

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

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10.

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

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11.

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

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12.

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

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13.

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

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14.

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

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15.

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

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16.

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

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17.

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

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18.

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

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19.

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

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20.

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

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21.

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

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22.

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

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23.

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

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24.

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.

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25.

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

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26.

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.

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27.

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

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28.

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

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29.

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

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30.

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

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Update: 11. Oktober 2018

 

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