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    Results: 1 to 20 of 31

    1.

    Identification of one novel mutation in the EVC2 gene in a Chinese family with Ellis-van Creveld syndrome.

    Zhang Z, Bao K, He JW, Fu WZ, Zhang CQ, Zhang ZL.

    Gene. 2012 Dec 15;511(2):380-2. doi: 10.1016/j.gene.2012.09.071. Epub 2012 Sep 29.

    PMID:
    23026208
    [PubMed - indexed for MEDLINE]
    2.

    Smoothened transduces Hedgehog signal by forming a complex with Evc/Evc2.

    Yang C, Chen W, Chen Y, Jiang J.

    Cell Res. 2012 Nov;22(11):1593-604. doi: 10.1038/cr.2012.134. Epub 2012 Sep 18.

    PMID:
    22986504
    [PubMed - indexed for MEDLINE]
    3.

    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]
    4.

    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]
    5.

    Ellis-van Creveld syndrome in a fetus with rhizomelia and polydactyly. Report of a case diagnosed by genetic analysis, and correlation with pathological andradiologic findings.

    Peraita-Ezcurra M, Martínez-García M, Ruiz-Pérez VL, Sánchez-Gutiérrez ME, Fenollar-Cortés M, Vélez-Monsalve C, Ramos-Corrales C, Pastor I, Santonja C, Trujillo-Tiebas MJ.

    Gene. 2012 May 10;499(1):223-5. doi: 10.1016/j.gene.2012.02.030. Epub 2012 Mar 3.

    PMID:
    22406498
    [PubMed - indexed for MEDLINE]
    6.

    Laparoscopic versus open bilateral nephrectomy in transplant recipients with medication-resistant hypertension: final results of a multicenter study with 15 years of follow-up.

    Wagner S, Greco F, Doehn C, Hoda MR, Girndt M, Jocham D, Fornara P.

    Transplant Proc. 2011 Sep;43(7):2557-61. doi: 10.1016/j.transproceed.2011.04.011.

    PMID:
    21911122
    [PubMed - indexed for MEDLINE]
    7.

    Two novel heterozygous mutations of EVC2 cause a mild phenotype of Ellis-van Creveld syndrome in a Chinese family.

    Shen W, Han D, Zhang J, Zhao H, Feng H.

    Am J Med Genet A. 2011 Sep;155A(9):2131-6. doi: 10.1002/ajmg.a.34125. Epub 2011 Aug 3.

    PMID:
    21815252
    [PubMed - indexed for MEDLINE]
    8.

    Ellis-van Creveld syndrome and congenital heart defects: presentation of an additional 32 cases.

    Hills CB, Kochilas L, Schimmenti LA, Moller JH.

    Pediatr Cardiol. 2011 Oct;32(7):977-82. doi: 10.1007/s00246-011-0006-9. Epub 2011 May 1.

    PMID:
    21533779
    [PubMed - indexed for MEDLINE]
    9.

    A comprehensive peptidome profiling technology for the identification of early detection biomarkers for lung adenocarcinoma.

    Ueda K, Saichi N, Takami S, Kang D, Toyama A, Daigo Y, Ishikawa N, Kohno N, Tamura K, Shuin T, Nakayama M, Sato TA, Nakamura Y, Nakagawa H.

    PLoS One. 2011 Apr 12;6(4):e18567. doi: 10.1371/journal.pone.0018567.

    PMID:
    21533267
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    10.

    Evc2 is a positive modulator of Hedgehog signalling that interacts with Evc at the cilia membrane and is also found in the nucleus.

    Blair HJ, Tompson S, Liu YN, Campbell J, MacArthur K, Ponting CP, Ruiz-Perez VL, Goodship JA.

    BMC Biol. 2011 Feb 28;9:14. doi: 10.1186/1741-7007-9-14.

    PMID:
    21356043
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    11.

    Nerve injuries from mandibular third molar removal.

    Meyer RA, Bagheri SC.

    Atlas Oral Maxillofac Surg Clin North Am. 2011 Mar;19(1):63-78. doi: 10.1016/j.cxom.2010.11.009.

    PMID:
    21277501
    [PubMed - indexed for MEDLINE]
    12.

    Ellis-van Creveld syndrome: report of two cases.

    Mehndiratta S, Tyagi A, Devgan V.

    World J Pediatr. 2011 Nov;7(4):368-70. doi: 10.1007/s12519-011-0256-x. Epub 2011 Jan 5.

    PMID:
    21210265
    [PubMed - indexed for MEDLINE]
    13.

    Ellis-van Creveld syndrome: prenatal diagnosis, molecular analysis and genetic counseling.

    Chen CP, Su YN, Hsu CY, Chern SR, Tsai FJ, Wu PC, Chen PT, Wang W.

    Taiwan J Obstet Gynecol. 2010 Dec;49(4):481-6. doi: 10.1016/S1028-4559(10)60101-5.

    PMID:
    21199751
    [PubMed - indexed for MEDLINE]
    14.

    Genome scan for locus involved in mandibular prognathism in pedigrees from China.

    Li Q, Zhang F, Li X, Chen F.

    PLoS One. 2010 Sep 10;5(9). doi:pii: e12678. 10.1371/journal.pone.0012678.

    PMID:
    20844756
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    15.

    Automatic breast parenchymal density classification integrated into a CADe system.

    Bueno G, Vállez N, Déniz O, Esteve P, Rienda MA, Arias M, Pastor C.

    Int J Comput Assist Radiol Surg. 2011 May;6(3):309-18. doi: 10.1007/s11548-010-0510-z. Epub 2010 Aug 5.

    PMID:
    20686927
    [PubMed - indexed for MEDLINE]
    16.

    Molecular and clinical analysis of Ellis-van Creveld syndrome in the United Arab Emirates.

    Ali BR, Akawi NA, Chedid F, Bakir M, Ur Rehman M, Rahmani A, Al-Gazali L.

    BMC Med Genet. 2010 Feb 25;11:33. doi: 10.1186/1471-2350-11-33.

    PMID:
    20184732
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    17.

    Incidence and risk factors for nerve injuries in mandibular third molar surgery.

    Akadiri OA, Fasola AO, Arotiba JT.

    Niger J Med. 2009 Oct-Dec;18(4):402-8.

    PMID:
    20120146
    [PubMed - indexed for MEDLINE]
    18.

    Association between genes on chromosome 4p16 and non-syndromic oral clefts in four populations.

    Ingersoll RG, Hetmanski J, Park JW, Fallin MD, McIntosh I, Wu-Chou YH, Chen PK, Yeow V, Chong SS, Cheah F, Sull JW, Jee SH, Wang H, Wu T, Murray T, Huang S, Ye X, Jabs EW, Redett R, Raymond G, Scott AF, Beaty TH.

    Eur J Hum Genet. 2010 Jun;18(6):726-32. doi: 10.1038/ejhg.2009.228. Epub 2010 Jan 20.

    PMID:
    20087401
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    19.

    Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands.

    Ruiz-Perez VL, Goodship JA.

    Am J Med Genet C Semin Med Genet. 2009 Nov 15;151C(4):341-51. doi: 10.1002/ajmg.c.30226. Review.

    PMID:
    19876929
    [PubMed - indexed for MEDLINE]
    20.

    Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling.

    Valencia M, Lapunzina P, Lim D, Zannolli R, Bartholdi D, Wollnik B, Al-Ajlouni O, Eid SS, Cox H, Buoni S, Hayek J, Martinez-Frias ML, Antonio PA, Temtamy S, Aglan M, Goodship JA, Ruiz-Perez VL.

    Hum Mutat. 2009 Dec;30(12):1667-75. doi: 10.1002/humu.21117.

    PMID:
    19810119
    [PubMed - indexed for MEDLINE]

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