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Items: 1 to 20 of 195

1.

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
2.

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
3.

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
4.

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
5.

The importance of oral-clinical findings for the correct diagnosis of Ellis-van Creveld syndrome.

Pedro RL, Andrade LH, Maia LC.

Gen Dent. 2011 Sep-Oct;59(5):e206-9.

PMID:
22313832
6.

Ellis-van Creveld Syndrome (chondro-ectodermal dysplasia) in two siblings.

Shenoy MM, Gopa K, Girisha BS, Pinto J, Shetty V.

Kathmandu Univ Med J (KUMJ). 2008 Apr-Jun;6(2):220-2.

PMID:
18769091
7.

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.

8.

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
9.

Discordance for Ellis-van Creveld syndrome in twins.

Thapa R, Mukhopadhyay M, Bhattacharya A.

Singapore Med J. 2008 Dec;49(12):e369-71.

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
11.

Ellis-van Creveld syndrome and dyserythropoiesis.

Scurlock D, Ostler D, Nguyen A, Wahed A.

Arch Pathol Lab Med. 2005 May;129(5):680-2.

PMID:
15859642
12.

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
13.

[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
14.

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
15.

Oral manifestations of Ellis-van Creveld syndrome: report of two siblings with unusual dental anomalies.

Hattab FN, Yassin OM, Sasa IS.

J Clin Pediatr Dent. 1998 Winter;22(2):159-65.

PMID:
9643193
16.

Clinical manifestations of Ellis-van Creveld syndrome.

Vinay C, Reddy RS, Uloopi KS, Sekhar RC.

J Indian Soc Pedod Prev Dent. 2009 Oct-Dec;27(4):256-9. doi: 10.4103/0970-4388.57663.

17.

Disproportionate short stature with multisystem involvement - Ellis-van Creveld syndrome.

Qureshi AU, Masood Y, Ali AS.

J Coll Physicians Surg Pak. 2009 Dec;19(12):803-5. doi: 12.2009/JCPSP.803805.

PMID:
20042164
18.

Truncation and microdeletion of EVC/EVC2 with missense mutation of EFCAB7 in Ellis-van Creveld syndrome.

Nguyen TQ, Saitoh M, Trinh HT, Doan NM, Mizuno Y, Seki M, Sato Y, Ogawa S, Mizuguchi M.

Congenit Anom (Kyoto). 2016 Sep;56(5):209-16. doi: 10.1111/cga.12155.

PMID:
26748586
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.

Ellis-van Creveld syndrome.

Baujat G, Le Merrer M.

Orphanet J Rare Dis. 2007 Jun 4;2:27. Review.

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