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Items: 1 to 20 of 152

1.

Expression of the Ellis-van Creveld (Evc) gene in the rat tibial growth plate.

Tsuji T, Nakamura H, Hirata A, Yamamoto T.

Anat Rec A Discov Mol Cell Evol Biol. 2004 Aug;279(2):729-35.

2.

Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis.

Ruiz-Perez VL, Ide SE, Strom TM, Lorenz B, Wilson D, Woods K, King L, Francomano C, Freisinger P, Spranger S, Marino B, Dallapiccola B, Wright M, Meitinger T, Polymeropoulos MH, Goodship J.

Nat Genet. 2000 Mar;24(3):283-6. Erratum in: Nat Genet 2000 May;25(1):125.

PMID:
10700184
5.

Expression of growth factors in chicken growth plate with special reference to tibial dyschondroplasia.

Ren P, Rowland GN 3rd, Halper J.

J Comp Pathol. 1997 Apr;116(3):303-20.

PMID:
9147248
6.

Ellis-van Creveld Syndrome in Grey Alpine Cattle: Morphologic, Immunophenotypic, and Molecular Characterization.

Muscatello LV, Benazzi C, Dittmer KE, Thompson KG, Murgiano L, Drögemüller C, Avallone G, Gentile A, Edwards JF, Piffer C, Bolcato M, Brunetti B.

Vet Pathol. 2015 Sep;52(5):957-66. doi: 10.1177/0300985815588610. Epub 2015 Jun 15.

PMID:
26077781
7.

Gender differences in expression of androgen receptor in tibial growth plate and metaphyseal bone of the rat.

van der Eerden BC, van Til NP, Brinkmann AO, Lowik CW, Wit JM, Karperien M.

Bone. 2002 Jun;30(6):891-6.

PMID:
12052459
8.
9.

Ellis-van Creveld syndrome with facial hemiatrophy.

Bhat YJ, Baba AN, Manzoor S, Qayoom S, Javed S, Ajaz H.

Indian J Dermatol Venereol Leprol. 2010 May-Jun;76(3):266-9. doi: 10.4103/0378-6323.62968.

10.

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
11.

[From gene to disease; EVC, EVC2, and Ellis-van Creveld syndrome].

van Hagen JM, Baart JA, Gille JJ.

Ned Tijdschr Geneeskd. 2005 Apr 23;149(17):929-31. Review. Dutch.

PMID:
15884406
12.

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
13.

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
14.

Ellis-van Creveld Syndrome: a report of two cases.

Arya L, Mendiratta V, Sharma RC, Solanki RS.

Pediatr Dermatol. 2001 Nov-Dec;18(6):485-9.

PMID:
11841633
15.

Calmodulin-dependent kinase 1beta is expressed in the epiphyseal growth plate and regulates proliferation of mouse calvarial osteoblasts in vitro.

Pedersen ME, Fortunati D, Nielsen M, Brorson SH, Lekva T, Nissen-Meyer LS, Gautvik VT, Shahdadfar A, Gautvik KM, Jemtland R.

Bone. 2008 Oct;43(4):700-7. doi: 10.1016/j.bone.2008.06.006. Epub 2008 Jun 20.

PMID:
18620088
16.

Microarray analysis of proliferative and hypertrophic growth plate zones identifies differentiation markers and signal pathways.

Wang Y, Middleton F, Horton JA, Reichel L, Farnum CE, Damron TA.

Bone. 2004 Dec;35(6):1273-93.

PMID:
15589209
17.

Ellis van Creveld syndrome (chondroectodermal dysplasia, MIM 22550) in three siblings from a non-consanguineous mating.

George E, DeSilva S, Lieber E, Raziuddin K, Gudavalli M.

J Perinat Med. 2000;28(6):425-7.

PMID:
11155425
18.

Exclusion of the MSX1 homeobox gene as the gene for the Ellis van Creveld syndrome in the Amish.

Ide SE, Ortiz de Luna RI, Francomano CA, Polymeropoulos MH.

Hum Genet. 1996 Nov;98(5):572-5.

PMID:
8882877
19.

Unusual pattern of inheritance and orodental changes in the Ellis-van Creveld syndrome.

Mostafa MI, Temtamy SA, el-Gammal MA, Mazen IM.

Genet Couns. 2005;16(1):75-83.

PMID:
15844783
20.

Evc is a positive mediator of Ihh-regulated bone growth that localises at the base of chondrocyte cilia.

Ruiz-Perez VL, Blair HJ, Rodriguez-Andres ME, Blanco MJ, Wilson A, Liu YN, Miles C, Peters H, Goodship JA.

Development. 2007 Aug;134(16):2903-12.

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