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Items: 1 to 20 of 102

1.

The Frog Xenopus as a Model to Study Joubert Syndrome: The Case of a Human Patient With Compound Heterozygous Variants in PIBF1.

Ott T, Kaufmann L, Granzow M, Hinderhofer K, Bartram CR, Theiß S, Seitz A, Paramasivam N, Schulz A, Moog U, Blum M, Evers CM.

Front Physiol. 2019 Feb 25;10:134. doi: 10.3389/fphys.2019.00134. eCollection 2019.

2.

Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish.

Van De Weghe JC, Rusterholz TDS, Latour B, Grout ME, Aldinger KA, Shaheen R, Dempsey JC, Maddirevula S, Cheng YH, Phelps IG, Gesemann M, Goel H, Birk OS, Alanzi T, Rawashdeh R, Khan AO; University of Washington Center for Mendelian Genomics, Bamshad MJ, Nickerson DA, Neuhauss SCF, Dobyns WB, Alkuraya FS, Roepman R, Bachmann-Gagescu R, Doherty D.

Am J Hum Genet. 2017 Jul 6;101(1):23-36. doi: 10.1016/j.ajhg.2017.05.010. Epub 2017 Jun 15.

3.

Joubert Syndrome.

Parisi M, Glass I.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2003 Jul 9 [updated 2017 Jun 29].

4.

MKS1 regulates ciliary INPP5E levels in Joubert syndrome.

Slaats GG, Isabella CR, Kroes HY, Dempsey JC, Gremmels H, Monroe GR, Phelps IG, Duran KJ, Adkins J, Kumar SA, Knutzen DM, Knoers NV, Mendelsohn NJ, Neubauer D, Mastroyianni SD, Vogt J, Worgan L, Karp N, Bowdin S, Glass IA, Parisi MA, Otto EA, Johnson CA, Hildebrandt F, van Haaften G, Giles RH, Doherty D.

J Med Genet. 2016 Jan;53(1):62-72. doi: 10.1136/jmedgenet-2015-103250. Epub 2015 Oct 21.

5.

A novel PDE6D mutation in a patient with Joubert syndrome type 22 (JBTS22).

Mégarbané A, Hmaimess G, Bizzari S, El-Bazzal L, Al-Ali MT, Stora S, Delague V, El-Hayek S.

Eur J Med Genet. 2018 Nov 10. pii: S1769-7212(18)30221-0. doi: 10.1016/j.ejmg.2018.11.010. [Epub ahead of print]

PMID:
30423442
6.

A Common Ancestral Asn242Ser Mutation in TMEM67 Identified in Multiple Iranian Families with Joubert Syndrome.

Dehghani M, Mojarad M, Ghayoor Karimiani E, Vahidi Mehrjardi MY, Sahebalzamani A, Ashrafzadeh F, Beiraghi Toosi M, Eslahi A, Ahangari N, Yassini SM, Hassanbeigi A, Rasti A, Kalantar SM, Maroofian R.

Public Health Genomics. 2017;20(3):188-193. doi: 10.1159/000477560. Epub 2017 Jul 19.

PMID:
28719906
7.

Joubert Syndrome and related disorders.

Brancati F, Dallapiccola B, Valente EM.

Orphanet J Rare Dis. 2010 Jul 8;5:20. doi: 10.1186/1750-1172-5-20. Review.

8.

Joubert syndrome: insights into brain development, cilium biology, and complex disease.

Doherty D.

Semin Pediatr Neurol. 2009 Sep;16(3):143-54. doi: 10.1016/j.spen.2009.06.002. Review.

9.

Novel CC2D2A compound heterozygous mutations cause Joubert syndrome.

Xiao D, Lv C, Zhang Z, Wu M, Zheng X, Yang L, Li X, Wu G, Chen J.

Mol Med Rep. 2017 Jan;15(1):305-308. doi: 10.3892/mmr.2016.6007. Epub 2016 Dec 7.

PMID:
27959436
10.

Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes.

Roosing S, Romani M, Isrie M, Rosti RO, Micalizzi A, Musaev D, Mazza T, Al-Gazali L, Altunoglu U, Boltshauser E, D'Arrigo S, De Keersmaecker B, Kayserili H, Brandenberger S, Kraoua I, Mark PR, McKanna T, Van Keirsbilck J, Moerman P, Poretti A, Puri R, Van Esch H, Gleeson JG, Valente EM.

J Med Genet. 2016 Sep;53(9):608-15. doi: 10.1136/jmedgenet-2016-103832. Epub 2016 May 6.

11.

A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium.

Thomas S, Wright KJ, Le Corre S, Micalizzi A, Romani M, Abhyankar A, Saada J, Perrault I, Amiel J, Litzler J, Filhol E, Elkhartoufi N, Kwong M, Casanova JL, Boddaert N, Baehr W, Lyonnet S, Munnich A, Burglen L, Chassaing N, Encha-Ravazi F, Vekemans M, Gleeson JG, Valente EM, Jackson PK, Drummond IA, Saunier S, Attié-Bitach T.

Hum Mutat. 2014 Jan;35(1):137-46.

12.

Joubert syndrome: the molar tooth sign of the mid-brain.

Nag C, Ghosh M, Das K, Ghosh T.

Ann Med Health Sci Res. 2013 Apr;3(2):291-4. doi: 10.4103/2141-9248.113686.

13.

Whole-exome sequencing and digital PCR identified a novel compound heterozygous mutation in the NPHP1 gene in a case of Joubert syndrome and related disorders.

Koyama S, Sato H, Wada M, Kawanami T, Emi M, Kato T.

BMC Med Genet. 2017 Mar 27;18(1):37. doi: 10.1186/s12881-017-0399-2.

14.

The ciliopathies in neuronal development: a clinical approach to investigation of Joubert syndrome and Joubert syndrome-related disorders.

Sattar S, Gleeson JG.

Dev Med Child Neurol. 2011 Sep;53(9):793-798. doi: 10.1111/j.1469-8749.2011.04021.x. Epub 2011 Jun 17. Review.

15.

KIAA0586 is Mutated in Joubert Syndrome.

Bachmann-Gagescu R, Phelps IG, Dempsey JC, Sharma VA, Ishak GE, Boyle EA, Wilson M, Marques Lourenço C, Arslan M; University of Washington Center for Mendelian Genomics, Shendure J, Doherty D.

Hum Mutat. 2015 Sep;36(9):831-5. doi: 10.1002/humu.22821. Epub 2015 Jul 2.

16.

A biallelic 36-bp insertion in PIBF1 is associated with Joubert syndrome.

Hebbar M, Kanthi A, Shukla A, Bielas S, Girisha KM.

J Hum Genet. 2018 Jul;63(8):935-939. doi: 10.1038/s10038-018-0462-7. Epub 2018 Apr 25.

17.

Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures.

Bachmann-Gagescu R, Ishak GE, Dempsey JC, Adkins J, O'Day D, Phelps IG, Gunay-Aygun M, Kline AD, Szczaluba K, Martorell L, Alswaid A, Alrasheed S, Pai S, Izatt L, Ronan A, Parisi MA, Mefford H, Glass I, Doherty D.

J Med Genet. 2012 Feb;49(2):126-37. doi: 10.1136/jmedgenet-2011-100552.

PMID:
22241855
18.

Orocraniofacial findings of a Pediatric Patient with Joubert Syndrome.

Goswami M, Rajwar AS, Verma M.

Int J Clin Pediatr Dent. 2016 Oct-Dec;9(4):379-383. doi: 10.5005/jp-journals-10005-1394. Epub 2016 Dec 5.

19.

Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome.

Bonnard C, Shboul M, Tonekaboni SH, Ng AYJ, Tohari S, Ghosh K, Lai A, Lim JY, Tan EC, Devisme L, Stichelbout M, Alkindi A, Banu N, Yüksel Z, Ghoumid J, Elkhartoufi N, Boutaud L, Micalizzi A, Brett MS, Venkatesh B, Valente EM, Attié-Bitach T, Reversade B, Kariminejad A.

Eur J Med Genet. 2018 Oct;61(10):585-595. doi: 10.1016/j.ejmg.2018.03.012. Epub 2018 Mar 30.

PMID:
29605658
20.

MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum.

Bader I, Decker E, Mayr JA, Lunzer V, Koch J, Boltshauser E, Sperl W, Pietsch P, Ertl-Wagner B, Bolz H, Bergmann C, Rittinger O.

Eur J Med Genet. 2016 Aug;59(8):386-91. doi: 10.1016/j.ejmg.2016.06.007. Epub 2016 Jul 1. Review.

PMID:
27377014

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