PubMed

Joubert syndrome associated with patent ductus arteriosus in a newborn infant.

Peker E, Kirimi E, Sal E, Ceylan A, Ustyol L, Caksen H.

Genet Couns. 2009;20(3):289-92. No abstract available. PMID: 19852437 [PubMed - indexed for MEDLINE]Related articles

OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin.

Coene KL, Roepman R, Doherty D, Afroze B, Kroes HY, Letteboer SJ, Ngu LH, Budny B, van Wijk E, Gorden NT, Azhimi M, Thauvin-Robinet C, Veltman JA, Boink M, Kleefstra T, Cremers FP, van Bokhoven H, de Brouwer AP.

Am J Hum Genet. 2009 Oct;85(4):465-81.PMID: 19800048 [PubMed - indexed for MEDLINE]Related articles

Inherited cerebrorenal syndromes.

Schurman SJ, Scheinman SJ.

Nat Rev Nephrol. 2009 Sep;5(9):529-38. Review.PMID: 19701229 [PubMed - indexed for MEDLINE]Related articles

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. Epub 2009 Aug 9.PMID: 19668216 [PubMed - indexed for MEDLINE]Related articles

Developmental basis of the rostro-caudal organization of the brainstem respiratory rhythm generator.

Champagnat J, Morin-Surun MP, Fortin G, Thoby-Brisson M.

Philos Trans R Soc Lond B Biol Sci. 2009 Sep 12;364(1529):2469-76. Review.PMID: 19651648 [PubMed - indexed for MEDLINE]Related articles

MKS3-related ciliopathy with features of autosomal recessive polycystic kidney disease, nephronophthisis, and Joubert Syndrome.

Gunay-Aygun M, Parisi MA, Doherty D, Tuchman M, Tsilou E, Kleiner DE, Huizing M, Turkbey B, Choyke P, Guay-Woodford L, Heller T, Szymanska K, Johnson CA, Glass I, Gahl WA.

J Pediatr. 2009 Sep;155(3):386-92.e1. Epub 2009 Jun 21.PMID: 19540516 [PubMed - indexed for MEDLINE]Related articles

Joubert syndrome with bilateral polymicrogyria: clinical and neuropathological findings in two brothers.

Giordano L, Vignoli A, Pinelli L, Brancati F, Accorsi P, Faravelli F, Gasparotti R, Granata T, Giaccone G, Inverardi F, Frassoni C, Dallapiccola B, Valente EM, Spreafico R.

Am J Med Genet A. 2009 Jul;149A(7):1511-5.PMID: 19533793 [PubMed - indexed for MEDLINE]Related articles

Eye movement abnormalities in Joubert syndrome.

Weiss AH, Doherty D, Parisi M, Shaw D, Glass I, Phillips JO.

Invest Ophthalmol Vis Sci. 2009 Oct;50(10):4669-77. Epub 2009 May 14.PMID: 19443711 [PubMed - indexed for MEDLINE]Related articles

Hypoplasia of deep cerebellar nuclei in joubert syndrome.

Kuchukhidze G, Rauchenzauner M, Gotwald T, Janecke A, Trinka E.

Pediatr Neurol. 2009 Jun;40(6):474-6.PMID: 19433286 [PubMed - indexed for MEDLINE]Related articles

Regional caudal blockade in a pediatric patient affected by the Joubert syndrome.

Galante D, Meola S, Cinnella G, Dambrosio M.

Acta Anaesthesiol Scand. 2009 May;53(5):693-4. No abstract available. PMID: 19419377 [PubMed - indexed for MEDLINE]Related articles

Joubert syndrome associated with new MRI findings and posterior reversible encephalopathy syndrome.

Yerdelen D, Koç F, Koç Z.

Acta Neurol Belg. 2009 Mar;109(1):49-52.PMID: 19402575 [PubMed - indexed for MEDLINE]Related articles

Neuroleptic malignant syndrome due to risperidone treatment in a child with Joubert syndrome.

Vurucu S, Congologlu A, Altun D, Unay B, Akin R.

J Natl Med Assoc. 2009 Mar;101(3):273-5.PMID: 19331262 [PubMed - indexed for MEDLINE]Related articles

Neurodevelopmental outcomes in children with cerebellar malformations: a systematic review.

Bolduc ME, Limperopoulos C.

Dev Med Child Neurol. 2009 Apr;51(4):256-67. Epub 2009 Feb 3. Review.PMID: 19191827 [PubMed - indexed for MEDLINE]Related articles

Cloning and characterization of the promoter of the human AHI1 gene.

Meng XF, Luo Y, Xiao W, Li M, Shi J.

Biochem Genet. 2009 Jun;47(5-6):427-38. Epub 2009 Feb 4.PMID: 19191019 [PubMed - indexed for MEDLINE]Related articles

MRI findings in Joubert syndrome.

Choh SA, Choh NA, Bhat SA, Jehangir M.

Indian J Pediatr. 2009 Feb;76(2):231-5. Epub 2009 Jan 5.PMID: 19129991 [PubMed - indexed for MEDLINE]Related articles

Molecular architecture of the centriole proteome: the conserved WD40 domain protein POC1 is required for centriole duplication and length control.

Keller LC, Geimer S, Romijn E, Yates J 3rd, Zamora I, Marshall WF.

Mol Biol Cell. 2009 Feb;20(4):1150-66. Epub 2008 Dec 24.PMID: 19109428 [PubMed - indexed for MEDLINE]Related articlesFree article

Nephronophthisis.

Simms RJ, Eley L, Sayer JA.

Eur J Hum Genet. 2009 Apr;17(4):406-16. Epub 2008 Dec 10.PMID: 19066617 [PubMed - indexed for MEDLINE]Related articles

MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement.

Brancati F, Iannicelli M, Travaglini L, Mazzotta A, Bertini E, Boltshauser E, D'Arrigo S, Emma F, Fazzi E, Gallizzi R, Gentile M, Loncarevic D, Mejaski-Bosnjak V, Pantaleoni C, Rigoli L, Salpietro CD, Signorini S, Stringini GR, Verloes A, Zabloka D, Dallapiccola B, Gleeson JG, Valente EM; International JSRD Study Group.

Hum Mutat. 2009 Feb;30(2):E432-42.PMID: 19058225 [PubMed - indexed for MEDLINE]Related articles

Cerebellar disorders in childhood: cognitive problems.

Steinlin M.

Cerebellum. 2008;7(4):607-10. Epub 2008 Dec 5. Review.PMID: 19057977 [PubMed - indexed for MEDLINE]Related articles

Ophthalmic features of Joubert syndrome.

Khan AO, Oystreck DT, Seidahmed MZ, AlDrees A, Elmalik SA, Alorainy IA, Salih MA.

Ophthalmology. 2008 Dec;115(12):2286-9.PMID: 19041481 [PubMed - indexed for MEDLINE]Related articles