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Results: 1 to 20 of 37

1.

EFCAB7 and IQCE regulate hedgehog signaling by tethering the EVC-EVC2 complex to the base of primary cilia.

Pusapati GV, Hughes CE, Dorn KV, Zhang D, Sugianto P, Aravind L, Rohatgi R.

Dev Cell. 2014 Mar 10;28(5):483-96. doi: 10.1016/j.devcel.2014.01.021. Epub 2014 Feb 27.

PMID:
24582806
[PubMed - indexed for MEDLINE]
2.

Use of cooled radiofrequency lateral branch neurotomy for the treatment of sacroiliac joint-mediated low back pain: a large case series.

Stelzer W, Aiglesberger M, Stelzer D, Stelzer V.

Pain Med. 2013 Jan;14(1):29-35. doi: 10.1111/pme.12014. Epub 2012 Dec 28.

PMID:
23279364
[PubMed - indexed for MEDLINE]
3.

First-trimester prenatal diagnosis of Ellis-van Creveld syndrome.

Chen CP, Chen CY, Chern SR, Su JW, Wang W.

Taiwan J Obstet Gynecol. 2012 Dec;51(4):643-8. doi: 10.1016/j.tjog.2012.10.001.

PMID:
23276573
[PubMed - indexed for MEDLINE]
4.

Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis.

D'Asdia MC, Torrente I, Consoli F, Ferese R, Magliozzi M, Bernardini L, Guida V, Digilio MC, Marino B, Dallapiccola B, De Luca A.

Eur J Med Genet. 2013 Feb;56(2):80-7. doi: 10.1016/j.ejmg.2012.11.005. Epub 2012 Dec 7.

PMID:
23220543
[PubMed - indexed for MEDLINE]
5.

Genomic analysis of Meckel-Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes.

Shaheen R, Faqeih E, Alshammari MJ, Swaid A, Al-Gazali L, Mardawi E, Ansari S, Sogaty S, Seidahmed MZ, AlMotairi MI, Farra C, Kurdi W, Al-Rasheed S, Alkuraya FS.

Eur J Hum Genet. 2013 Jul;21(7):762-8. doi: 10.1038/ejhg.2012.254. Epub 2012 Nov 21.

PMID:
23169490
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

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]
7.

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]
Free PMC Article
8.

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]
9.

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]
10.

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]
11.

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]
12.

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]
13.

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]
14.

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
15.

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
16.

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]
17.

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]
18.

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]
19.

Corrected ASD: case closed?

Paiva LV, Providencia R, Sá J, Bastiaenen R, Botelho A, Mota P, Leitao-Marques A.

BMJ Case Rep. 2011 Aug 4;2011. pii: bcr0120113714. doi: 10.1136/bcr.01.2011.3714.

PMID:
22687659
[PubMed - indexed for MEDLINE]
20.

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). pii: e12678. doi: 10.1371/journal.pone.0012678.

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

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