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Items: 1 to 20 of 36

1.

Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies.

Bielas SL, Silhavy JL, Brancati F, Kisseleva MV, Al-Gazali L, Sztriha L, Bayoumi RA, Zaki MS, Abdel-Aleem A, Rosti RO, Kayserili H, Swistun D, Scott LC, Bertini E, Boltshauser E, Fazzi E, Travaglini L, Field SJ, Gayral S, Jacoby M, Schurmans S, Dallapiccola B, Majerus PW, Valente EM, Gleeson JG.

Nat Genet. 2009 Sep;41(9):1032-6. doi: 10.1038/ng.423. Epub 2009 Aug 9.

2.

INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse.

Jacoby M, Cox JJ, Gayral S, Hampshire DJ, Ayub M, Blockmans M, Pernot E, Kisseleva MV, Compère P, Schiffmann SN, Gergely F, Riley JH, Pérez-Morga D, Woods CG, Schurmans S.

Nat Genet. 2009 Sep;41(9):1027-31. doi: 10.1038/ng.427. Epub 2009 Aug 9.

PMID:
19668215
3.

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.

Khanna H, Davis EE, Murga-Zamalloa CA, Estrada-Cuzcano A, Lopez I, den Hollander AI, Zonneveld MN, Othman MI, Waseem N, Chakarova CF, Maubaret C, Diaz-Font A, MacDonald I, Muzny DM, Wheeler DA, Morgan M, Lewis LR, Logan CV, Tan PL, Beer MA, Inglehearn CF, Lewis RA, Jacobson SG, Bergmann C, Beales PL, Attié-Bitach T, Johnson CA, Otto EA, Bhattacharya SS, Hildebrandt F, Gibbs RA, Koenekoop RK, Swaroop A, Katsanis N.

Nat Genet. 2009 Jun;41(6):739-45. doi: 10.1038/ng.366. Epub 2009 May 10.

4.

Absence of decussation of the superior cerebellar peduncles in patients with Joubert syndrome.

Spampinato MV, Kraas J, Maria BL, Walton ZJ, Rumboldt Z.

Am J Med Genet A. 2008 Jun 1;146A(11):1389-94. doi: 10.1002/ajmg.a.32282.

PMID:
18412277
5.

The face of Joubert syndrome: a study of dysmorphology and anthropometry.

Braddock SR, Henley KM, Maria BL.

Am J Med Genet A. 2007 Dec 15;143A(24):3235-42.

PMID:
18000967
6.

MORM syndrome (mental retardation, truncal obesity, retinal dystrophy and micropenis), a new autosomal recessive disorder, links to 9q34.

Hampshire DJ, Ayub M, Springell K, Roberts E, Jafri H, Rashid Y, Bond J, Riley JH, Woods CG.

Eur J Hum Genet. 2006 May;14(5):543-8.

7.

Distinguishing the four genetic causes of Jouberts syndrome-related disorders.

Valente EM, Marsh SE, Castori M, Dixon-Salazar T, Bertini E, Al-Gazali L, Messer J, Barbot C, Woods CG, Boltshauser E, Al-Tawari AA, Salpietro CD, Kayserili H, Sztriha L, Gribaa M, Koenig M, Dallapiccola B, Gleeson JG.

Ann Neurol. 2005 Apr;57(4):513-9. Erratum in: Ann Neurol. 2005 Jun;57(6):934.

8.

Mutational analysis of BARHL1 and BARX1 in three new patients with Joubert syndrome.

Gould DB, Walter MA.

Am J Med Genet A. 2004 Dec 1;131(2):205-8. No abstract available.

PMID:
15487006
9.

[Partial familial agenesis of the vermis cerebelli].

DE HAENE A.

Acta Neurol Psychiatr Belg. 1955 Aug;55(8):622-8. French. No abstract available.

PMID:
13275283
10.

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

Keeler LC, Marsh SE, Leeflang EP, Woods CG, Sztriha L, Al-Gazali L, Gururaj A, Gleeson JG.

Am J Hum Genet. 2003 Sep;73(3):656-62. Epub 2003 Aug 13.

11.

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

Valente EM, Salpietro DC, Brancati F, Bertini E, Galluccio T, Tortorella G, Briuglia S, Dallapiccola B.

Am J Hum Genet. 2003 Sep;73(3):663-70. Epub 2003 Aug 7.

13.

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

Natacci F, Corrado L, Pierri M, Rossetti M, Zuccarini C, Riva P, Miozzo M, Larizza L.

Am J Med Genet. 2000 Dec 18;95(5):467-72.

PMID:
11146468
14.

Cloning and characterization of a 72-kDa inositol-polyphosphate 5-phosphatase localized to the Golgi network.

Kong AM, Speed CJ, O'Malley CJ, Layton MJ, Meehan T, Loveland KL, Cheema S, Ooms LM, Mitchell CA.

J Biol Chem. 2000 Aug 4;275(31):24052-64.

15.
16.

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

Saar K, Al-Gazali L, Sztriha L, Rueschendorf F, Nur-E-Kamal M, Reis A, Bayoumi R.

Am J Hum Genet. 1999 Dec;65(6):1666-71.

17.

Neuropathology of Joubert syndrome.

Yachnis AT, Rorke LB.

J Child Neurol. 1999 Oct;14(10):655-9; discussion 669-72.

PMID:
10511338
18.

Joubert syndrome: monozygotic twins with discordant phenotypes.

Raynes HR, Shanske A, Goldberg S, Burde R, Rapin I.

J Child Neurol. 1999 Oct;14(10):649-54; discussion 669-72 discussio.

PMID:
10511337
19.

Cognition, behavior, and development in Joubert syndrome.

Fennell EB, Gitten JC, Dede DE, Maria BL.

J Child Neurol. 1999 Sep;14(9):592-6.

PMID:
10488904
20.

Clinical features and revised diagnostic criteria in Joubert syndrome.

Maria BL, Boltshauser E, Palmer SC, Tran TX.

J Child Neurol. 1999 Sep;14(9):583-90; discussion 590-1.

PMID:
10488903

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