(Q28278336)

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Friedhelm Hildebrandt

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author name string

Rob Rodrigues Pereira

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Hans-Christian Hennies

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

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language of work or name

English

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publication date

January 2006

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32-5

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cites work

1 reference

https://api.crossref.org/works/10.1007%2FS00467-005-2054-Y

Joubert syndrome: more than lower cerebellar vermis hypoplasia, less than a complex brain malformation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-005-2054-Y

Joubert syndrome: a review

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-005-2054-Y

Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-005-2054-Y

"Joubert Syndrome" Revisited: Key Ocular Motor Signs With Magnetic Resonance Imaging Correlation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-005-2054-Y

Molar tooth sign in Joubert syndrome: clinical, radiologic, and pathologic significance

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-005-2054-Y

Ocular and oculomotor signs in Joubert syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-005-2054-Y

Distinguishing the four genetic causes of Jouberts syndrome-related disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-005-2054-Y

The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-005-2054-Y

NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-005-2054-Y

Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-005-2054-Y

Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-005-2054-Y

Homozygosity mapping in families with Joubert syndrome identifies a locus on chromosome 9q34.3 and evidence for genetic heterogeneity

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-005-2054-Y

Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-005-2054-Y

Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-005-2054-Y

Patient with large 17p11.2 deletion presenting with Smith-Magenis syndrome and Joubert syndrome phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-005-2054-Y

A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-005-2054-Y

Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-005-2054-Y