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Results: 13

1.

WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in cilia.

Huber C, Wu S, Kim AS, Sigaudy S, Sarukhanov A, Serre V, Baujat G, Le Quan Sang KH, Rimoin DL, Cohn DH, Munnich A, Krakow D, Cormier-Daire V.

Am J Hum Genet. 2013 Nov 7;93(5):926-31. doi: 10.1016/j.ajhg.2013.10.007. Epub 2013 Oct 31.

PMID:
24183449
[PubMed - indexed for MEDLINE]
2.

Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans.

Halbritter J, Bizet AA, Schmidts M, Porath JD, Braun DA, Gee HY, McInerney-Leo AM, Krug P, Filhol E, Davis EE, Airik R, Czarnecki PG, Lehman AM, Trnka P, Nitschké P, Bole-Feysot C, Schueler M, Knebelmann B, Burtey S, Szabó AJ, Tory K, Leo PJ, Gardiner B, McKenzie FA, Zankl A, Brown MA, Hartley JL, Maher ER, Li C, Leroux MR, Scambler PJ, Zhan SH, Jones SJ, Kayserili H, Tuysuz B, Moorani KN, Constantinescu A, Krantz ID, Kaplan BS, Shah JV; UK10K Consortium, Hurd TW, Doherty D, Katsanis N, Duncan EL, Otto EA, Beales PL, Mitchison HM, Saunier S, Hildebrandt F.

Am J Hum Genet. 2013 Nov 7;93(5):915-25. doi: 10.1016/j.ajhg.2013.09.012. Epub 2013 Oct 17.

PMID:
24140113
[PubMed - indexed for MEDLINE]
3.

Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families.

Baujat G, Huber C, El Hokayem J, Caumes R, Do Ngoc Thanh C, David A, Delezoide AL, Dieux-Coeslier A, Estournet B, Francannet C, Kayirangwa H, Lacaille F, Le Bourgeois M, Martinovic J, Salomon R, Sigaudy S, Malan V, Munnich A, Le Merrer M, Le Quan Sang KH, Cormier-Daire V.

J Med Genet. 2013 Feb;50(2):91-8. doi: 10.1136/jmedgenet-2012-101282.

PMID:
23339108
[PubMed - indexed for MEDLINE]
4.

Ciliary disorder of the skeleton.

Huber C, Cormier-Daire V.

Am J Med Genet C Semin Med Genet. 2012 Aug 15;160C(3):165-74. doi: 10.1002/ajmg.c.31336. Epub 2012 Jul 12. Review.

PMID:
22791528
[PubMed - indexed for MEDLINE]
5.

The intraflagellar transport protein IFT80 is required for cilia formation and osteogenesis.

Yang S, Wang C.

Bone. 2012 Sep;51(3):407-17. doi: 10.1016/j.bone.2012.06.021. Epub 2012 Jul 4.

PMID:
22771375
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Short rib-polydactyly syndrome type II (Majewski): prenatal diagnosis, perinatal imaging findings and molecular analysis of the NEK1 gene.

Chen CP, Chang TY, Chen CY, Wang TY, Tsai FJ, Wu PC, Chern SR, Wang W.

Taiwan J Obstet Gynecol. 2012 Mar;51(1):100-5. doi: 10.1016/j.tjog.2012.01.020.

PMID:
22482978
[PubMed - indexed for MEDLINE]
7.

An Ift80 mouse model of short rib polydactyly syndromes shows defects in hedgehog signalling without loss or malformation of cilia.

Rix S, Calmont A, Scambler PJ, Beales PL.

Hum Mol Genet. 2011 Apr 1;20(7):1306-14. doi: 10.1093/hmg/ddr013. Epub 2011 Jan 12.

PMID:
21227999
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Localization of a guanylyl cyclase to chemosensory cilia requires the novel ciliary MYND domain protein DAF-25.

Jensen VL, Bialas NJ, Bishop-Hurley SL, Molday LL, Kida K, Nguyen PA, Blacque OE, Molday RS, Leroux MR, Riddle DL.

PLoS Genet. 2010 Nov 24;6(11):e1001199. doi: 10.1371/journal.pgen.1001199.

PMID:
21124868
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum.

Cavalcanti DP, Huber C, Sang KH, Baujat G, Collins F, Delezoide AL, Dagoneau N, Le Merrer M, Martinovic J, Mello MF, Vekemans M, Munnich A, Cormier-Daire V.

J Med Genet. 2011 Feb;48(2):88-92. doi: 10.1136/jmg.2009.069468. Epub 2009 Jul 30.

PMID:
19648123
[PubMed - indexed for MEDLINE]
10.

DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III.

Dagoneau N, Goulet M, Geneviève D, Sznajer Y, Martinovic J, Smithson S, Huber C, Baujat G, Flori E, Tecco L, Cavalcanti D, Delezoide AL, Serre V, Le Merrer M, Munnich A, Cormier-Daire V.

Am J Hum Genet. 2009 May;84(5):706-11. doi: 10.1016/j.ajhg.2009.04.016.

PMID:
19442771
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Ciliopathy spectrum expanded? Jeune syndrome associated with foregut dysmotility and malrotation.

Hall T, Bush A, Fell J, Offiah A, Smith V, Abel R.

Pediatr Pulmonol. 2009 Feb;44(2):198-201. doi: 10.1002/ppul.20960.

PMID:
19137595
[PubMed - indexed for MEDLINE]
12.

Identification and characterization of a long isoform of human IFT80, IFT80-L.

Huang W, Kane JK, Li MD.

Biochem Biophys Res Commun. 2008 Sep 5;373(4):653-8. doi: 10.1016/j.bbrc.2008.06.085. Epub 2008 Jul 2.

PMID:
18601909
[PubMed - indexed for MEDLINE]
13.

IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy.

Beales PL, Bland E, Tobin JL, Bacchelli C, Tuysuz B, Hill J, Rix S, Pearson CG, Kai M, Hartley J, Johnson C, Irving M, Elcioglu N, Winey M, Tada M, Scambler PJ.

Nat Genet. 2007 Jun;39(6):727-9. Epub 2007 Apr 29.

PMID:
17468754
[PubMed - indexed for MEDLINE]

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