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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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2007 | 1 |
2009 | 2 |
2011 | 1 |
2012 | 1 |
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2019 | 1 |
2024 | 0 |
PubMed (cited) for id: 611263
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Mutations in IFT80 cause SRPS Type IV. Report of two families and review.
Am J Med Genet A. 2019 Apr;179(4):639-644. doi: 10.1002/ajmg.a.61050. Epub 2019 Feb 14.
Am J Med Genet A. 2019.
PMID: 30767363
Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy.
Schmidts M, Vodopiutz J, Christou-Savina S, Cortés CR, McInerney-Leo AM, Emes RD, Arts HH, Tüysüz B, D'Silva J, Leo PJ, Giles TC, Oud MM, Harris JA, Koopmans M, Marshall M, Elçioglu N, Kuechler A, Bockenhauer D, Moore AT, Wilson LC, Janecke AR, Hurles ME, Emmet W, Gardiner B, Streubel B, Dopita B, Zankl A, Kayserili H, Scambler PJ, Brown MA, Beales PL, Wicking C; UK10K; Duncan EL, Mitchison HM.
Schmidts M, et al.
Am J Hum Genet. 2013 Nov 7;93(5):932-44. doi: 10.1016/j.ajhg.2013.10.003. Epub 2013 Oct 31.
Am J Hum Genet. 2013.
PMID: 24183451
Free PMC article.
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Ciliary disorder of the skeleton.
Huber C, Cormier-Daire V.
Huber C, et al.
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.
Am J Med Genet C Semin Med Genet. 2012.
PMID: 22791528
Review.
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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.
Cavalcanti DP, et al.
J Med Genet. 2011 Feb;48(2):88-92. doi: 10.1136/jmg.2009.069468. Epub 2009 Jul 30.
J Med Genet. 2011.
PMID: 19648123
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Clinical variability of asphyxiating thoracic dystrophy (Jeune) syndrome: Evaluation and classification of 13 patients.
Tüysüz B, Bariş S, Aksoy F, Madazli R, Ungür S, Sever L.
Tüysüz B, et al.
Am J Med Genet A. 2009 Aug;149A(8):1727-33. doi: 10.1002/ajmg.a.32962.
Am J Med Genet A. 2009.
PMID: 19610081
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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.
Beales PL, et al.
Nat Genet. 2007 Jun;39(6):727-9. doi: 10.1038/ng2038. Epub 2007 Apr 29.
Nat Genet. 2007.
PMID: 17468754
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