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Results: 1 to 20 of 150

Similar articles for PubMed (Select 17160906)

1.

The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome.

Baala L, Romano S, Khaddour R, Saunier S, Smith UM, Audollent S, Ozilou C, Faivre L, Laurent N, Foliguet B, Munnich A, Lyonnet S, Salomon R, Encha-Razavi F, Gubler MC, Boddaert N, de Lonlay P, Johnson CA, Vekemans M, Antignac C, Attie-Bitach T.

Am J Hum Genet. 2007 Jan;80(1):186-94. Epub 2006 Nov 15.

2.

Identification of a Novel MKS Locus Defined By TMEM107 Mutation.

Shaheen R, Almoisheer A, Faqeih E, Babay Z, Monies D, Tassan N, Abouelhoda M, Kurdi W, Al Mardawi E, Khalil MM, Seidahmed MZ, Alnemer M, Alsahan N, Sogaty S, Alhashem A, Singh A, Goyal M, Kapoor S, Alomar R, Ibrahim N, Alkuraya FS.

Hum Mol Genet. 2015 Jun 29. pii: ddv242. [Epub ahead of print]

PMID:
26123494
3.

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 Jun 11. doi: 10.1002/humu.22821. [Epub ahead of print]

PMID:
26096313
4.

Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

Bachmann-Gagescu R, Dempsey JC, Phelps IG, O'Roak BJ, Knutzen DM, Rue TC, Ishak GE, Isabella CR, Gorden N, Adkins J, Boyle EA, de Lacy N, O'Day D, Alswaid A, Ramadevi A R, Lingappa L, Lourenço C, Martorell L, Garcia-Cazorla À, Ozyürek H, Haliloğlu G, Tuysuz B, Topçu M, Chance P, Parisi MA, Glass IA, Shendure J, Doherty D.

J Med Genet. 2015 Jun 19. pii: jmedgenet-2015-103087. doi: 10.1136/jmedgenet-2015-103087. [Epub ahead of print]

PMID:
26092869
5.

Molar Tooth Sign with Deranged Liver Function Tests: An Indian Case with COACH Syndrome.

Sanjeev RK, Kapoor S, Goyal M, Kapur R, Gleeson JG.

Case Rep Pediatr. 2015;2015:385910. doi: 10.1155/2015/385910. Epub 2015 May 17.

6.

Meckel Gruber syndrome, A case report.

Aslan K, Külahçı Aslan E, Orhan A, Atalay MA.

Organogenesis. 2015 Jun 2:1-6. [Epub ahead of print]

PMID:
26037304
7.

Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome.

Roosing S, Hofree M, Kim S, Scott E, Copeland B, Romani M, Silhavy JL, Rosti RO, Schroth J, Mazza T, Miccinilli E, Zaki MS, Swoboda KJ, Milisa-Drautz J, Dobyns WB, Mikati MA, İncecik F, Azam M, Borgatti R, Romaniello R, Boustany RM, Clericuzio CL, D'Arrigo S, Strømme P, Boltshauser E, Stanzial F, Mirabelli-Badenier M, Moroni I, Bertini E, Emma F, Steinlin M, Hildebrandt F, Johnson CA, Freilinger M, Vaux KK, Gabriel SB, Aza-Blanc P, Heynen-Genel S, Ideker T, Dynlacht BD, Lee JE, Valente EM, Kim J, Gleeson JG.

Elife. 2015 May 30;4. doi: 10.7554/eLife.06602.

8.

Syndromic ciliopathies: From single gene to multi gene analysis by SNP arrays and next generation sequencing.

Knopp C, Rudnik-Schöneborn S, Eggermann T, Bergmann C, Begemann M, Schoner K, Zerres K, Ortiz Brüchle N.

Mol Cell Probes. 2015 May 21. pii: S0890-8508(15)30005-0. doi: 10.1016/j.mcp.2015.05.008. [Epub ahead of print]

PMID:
26003401
9.

Meckel-Gruber Syndrome with unilateral renal agenesis.

Uysal F, Uysal A.

J Coll Physicians Surg Pak. 2015 Apr;25(11):S56-7. doi: 04.2015/JCPSP.S56S57.

PMID:
25933467
10.

Joubert syndrome: genotyping a Northern European patient cohort.

Kroes HY, Monroe GR, van der Zwaag B, Duran KJ, de Kovel CG, van Roosmalen MJ, Harakalova M, Nijman IJ, Kloosterman WP, Giles RH, Knoers NV, van Haaften G.

Eur J Hum Genet. 2015 Apr 29. doi: 10.1038/ejhg.2015.84. [Epub ahead of print]

PMID:
25920555
11.

Novel Jbts17 mutant mouse model of Joubert syndrome with cilia transition zone defects and cerebellar and other ciliopathy related anomalies.

Damerla RR, Cui C, Gabriel GC, Liu X, Craige B, Gibbs BC, Francis R, Li Y, Chatterjee B, San Agustin JT, Eguether T, Subramanian R, Witman GB, Michaud JL, Pazour GJ, Lo CW.

Hum Mol Genet. 2015 Jul 15;24(14):3994-4005. doi: 10.1093/hmg/ddv137. Epub 2015 Apr 15.

12.

Development of end-stage renal disease at a young age in two cases with Joubert syndrome.

Sönmez F, Güzünler-Şen M, Yılmaz D, Cömertpay G, Heise M, Çırak S, Uyanık G.

Turk J Pediatr. 2014 Jul-Aug;56(4):458-61.

13.

Unraveling the genetics of Joubert and Meckel-Gruber syndromes.

Szymanska K, Hartill VL, Johnson CA.

J Pediatr Genet. 2014 Nov 5;3(2):65-78.

14.

Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?

Romani M, Mancini F, Micalizzi A, Poretti A, Miccinilli E, Accorsi P, Avola E, Bertini E, Borgatti R, Romaniello R, Ceylaner S, Coppola G, D'Arrigo S, Giordano L, Janecke AR, Lituania M, Ludwig K, Martorell L, Mazza T, Odent S, Pinelli L, Poo P, Santucci M, Signorini S, Simonati A, Spiegel R, Stanzial F, Steinlin M, Tabarki B, Wolf NI, Zibordi F, Boltshauser E, Valente EM.

Hum Genet. 2015 Jan;134(1):123-6. doi: 10.1007/s00439-014-1508-3. Epub 2014 Nov 19.

15.

Joubert syndrome: imaging features and illustration of a case.

Arora R.

Pol J Radiol. 2014 Oct 27;79:381-3. doi: 10.12659/PJR.890941. eCollection 2014.

16.

The Shepherd's Crook Sign: A New Neuroimaging Pareidolia in Joubert Syndrome.

Manley AT, Maertens PM.

J Neuroimaging. 2015 May;25(3):510-2. doi: 10.1111/jon.12159. Epub 2014 Sep 18.

PMID:
25230909
17.

Meckel-Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe.

Barisic I, Boban L, Loane M, Garne E, Wellesley D, Calzolari E, Dolk H, Addor MC, Bergman JE, Braz P, Draper ES, Haeusler M, Khoshnood B, Klungsoyr K, Pierini A, Queisser-Luft A, Rankin J, Rissmann A, Verellen-Dumoulin C.

Eur J Hum Genet. 2015 Jun;23(6):746-52. doi: 10.1038/ejhg.2014.174. Epub 2014 Sep 3.

PMID:
25182137
18.

Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity.

Thomas S, Cantagrel V, Mariani L, Serre V, Lee JE, Elkhartoufi N, de Lonlay P, Desguerre I, Munnich A, Boddaert N, Lyonnet S, Vekemans M, Lisgo SN, Caspary T, Gleeson J, Attié-Bitach T.

Eur J Hum Genet. 2015 May;23(5):621-7. doi: 10.1038/ejhg.2014.156. Epub 2014 Aug 20.

PMID:
25138100
19.

Tectonic gene mutations in patients with Joubert syndrome.

Huppke P, Wegener E, Böhrer-Rabel H, Bolz HJ, Zoll B, Gärtner J, Bergmann C.

Eur J Hum Genet. 2015 May;23(5):616-20. doi: 10.1038/ejhg.2014.160. Epub 2014 Aug 13.

PMID:
25118024
20.

Joubert syndrome labeled as hypotonic cerebral palsy.

Dekair LH, Kamel H, El-Bashir HO.

Neurosciences (Riyadh). 2014 Jul;19(3):233-5.

PMID:
24983287
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