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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1957 1
1963 4
1964 4
1965 3
1966 1
1967 5
1968 7
1969 7
1970 6
1971 6
1972 6
1973 8
1974 3
1975 6
1976 6
1977 8
1978 2
1979 7
1980 5
1981 1
1982 2
1983 4
1984 2
1986 3
1987 5
1988 4
1989 3
1990 3
1991 2
1992 1
1993 2
1995 8
1996 2
1997 2
1998 1
1999 1
2000 2
2001 2
2002 2
2004 1
2005 3
2006 1
2007 4
2008 2
2009 1
2010 4
2011 10
2012 3
2013 11
2014 5
2015 10
2016 6
2017 8
2018 3
2019 2
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2023 1
2024 0

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218 results

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Page 1
Ellis-van Creveld syndrome.
Baujat G, Le Merrer M. Baujat G, et al. Orphanet J Rare Dis. 2007 Jun 4;2:27. doi: 10.1186/1750-1172-2-27. Orphanet J Rare Dis. 2007. PMID: 17547743 Free PMC article. Review.
Ellis-van Creveld syndrome (EVC) is a chondral and ectodermal dysplasia characterized by short ribs, polydactyly, growth retardation, and ectodermal and heart defects. ...EVC belongs to the short rib-polydactyly group (SRP) and these SRPs, especially t …
Ellis-van Creveld syndrome (EVC) is a chondral and ectodermal dysplasia characterized by short ribs, polydactyly …
Ellis--Van Creveld syndrome.
Suguna Bai NS, Joseph TP, Nair PM. Suguna Bai NS, et al. Indian J Pediatr. 1983 Mar-Apr;50(403):227-9. doi: 10.1007/BF02821448. Indian J Pediatr. 1983. PMID: 6618581 No abstract available.
Ellis-van Creveld syndrome in a patient from Tanzania.
Dekker MCJ, Sadiq AM, Jusabani MA, Mdavire VJ, Baas F, Morton DH, Hamel BCJ. Dekker MCJ, et al. Am J Med Genet A. 2019 Oct;179(10):2034-2038. doi: 10.1002/ajmg.a.61309. Epub 2019 Jul 26. Am J Med Genet A. 2019. PMID: 31350806
We report an African infant with Ellis-van Creveld (EVC) syndrome. EVC syndrome is a chondral and ectodermal dysplasia with autosomal recessive transmission. ...Our review of medical literature suggested this is the first molecularly conf …
We report an African infant with Ellis-van Creveld (EVC) syndrome. EVC syndrome is a chondral and …
Ellis-van Creveld syndrome in a neonate: a case report.
Asif S, Salahudeen AA, Nadeem G, Sattar A. Asif S, et al. J Pak Med Assoc. 2023 Mar;73(3):687-689. doi: 10.47391/JPMA.5375. J Pak Med Assoc. 2023. PMID: 36932784 Free article.
Ellis-Van Creveld Syndrome (EVC) is a rare genetic disorder with autosomal recessive inheritance, caused by mutations in two genes, EVC1 and EVC2 in the 4p16 chromosome. ...Our case was unique as it had left inguinal hernia, short phallus, hyperpigment …
Ellis-Van Creveld Syndrome (EVC) is a rare genetic disorder with autosomal recessive inheritance, caused by muta …
Ellis-Van Creveld Syndrome in a Neonate.
Wahid S, Aslam S, Minhas S. Wahid S, et al. J Coll Physicians Surg Pak. 2018 Mar;28(3):S44-S45. doi: 10.29271/jcpsp.2018.03.S44. J Coll Physicians Surg Pak. 2018. PMID: 29482704
Ellis-van Creveld syndrome is a rare form of skeletal and chondroectodermal dysplasia which affects all the three ectodermal, mesodermal, and endodermal derivatives. ...Our patient had all the major characteristic features consistent with Ellis- …
Ellis-van Creveld syndrome is a rare form of skeletal and chondroectodermal dysplasia which affects all the thre …
Ellis-van Creveld syndrome: report of two cases.
Mehndiratta S, Tyagi A, Devgan V. Mehndiratta S, et al. World J Pediatr. 2011 Nov;7(4):368-70. doi: 10.1007/s12519-011-0256-x. Epub 2011 Jan 5. World J Pediatr. 2011. PMID: 21210265
BACKGROUND: Ellis-van Creveld syndrome (EVC syndrome, MIM 225500) or chondroectodermal dysplasia is a rare, autosomal recessive disorder. ...On cardiac evaluation, ventricular septal defect was found. There were no neonatal teeth. A diagnosis of …
BACKGROUND: Ellis-van Creveld syndrome (EVC syndrome, MIM 225500) or chondroectodermal dysplasia is a rar …
Rare clinical features of the Ellis van Creveld syndrome: A case report and literature review.
Ghassemi M, Goodarzi A, Seirafianpour F, Mozafarpoor S, Ziaeifar E. Ghassemi M, et al. Dermatol Ther. 2021 Jan;34(1):e14664. doi: 10.1111/dth.14664. Epub 2020 Dec 26. Dermatol Ther. 2021. PMID: 33314608 Review.
Ellis van Creveld syndrome (EVC) is a rare autosomal recessive disorder also called chondroectodermal dysplasia. ...In this study pectus excavatum, Phrygian cap gallbladder, liver hemangioma, polycystic ovarian disease, and breast fibrocystic cysts was …
Ellis van Creveld syndrome (EVC) is a rare autosomal recessive disorder also called chondroectodermal dysplasia. …
An intrafamilial phenotypic variability in Ellis-Van Creveld syndrome due to a novel 27 bps deletion mutation.
Zaka A, Shahzad S, Rao HZ, Kanwal S, Gul A, Basit S. Zaka A, et al. Am J Med Genet A. 2021 Oct;185(10):2888-2894. doi: 10.1002/ajmg.a.62360. Epub 2021 May 26. Am J Med Genet A. 2021. PMID: 34037314
Ellis-van Creveld (EvC) syndrome is an autosomal recessive disease, characterized by ectodermal, skeletal, and cardiac anomalies. ...The identified variant is considered to be the most likely candidate variant for the EvC syndrome in the family …
Ellis-van Creveld (EvC) syndrome is an autosomal recessive disease, characterized by ectodermal, skeletal, and c …
Chondroectodermal dysplasia (Ellis van Creveld syndrome): a report of three cases with review of literature.
Kurian K, Shanmugam S, Harsh Vardah T, Gupta S. Kurian K, et al. Indian J Dent Res. 2007 Jan-Mar;18(1):31-4. doi: 10.4103/0970-9290.30920. Indian J Dent Res. 2007. PMID: 17347543 Free article. Review.
Chondroectodermal dysplasia is a rare mesenchymal - ectodermal dysplasia first described in 1940 by Richard W.B. Ellis and Simon van Creveld now known as Ellis van Creveld syndrome. ...Ellis van Creveld synd …
Chondroectodermal dysplasia is a rare mesenchymal - ectodermal dysplasia first described in 1940 by Richard W.B. Ellis and Simon v …
Novel mutations in EVC cause aberrant splicing in Ellis-van Creveld syndrome.
Shi L, Luo C, Ahmed MK, Attaie AB, Ye X. Shi L, et al. Mol Genet Genomics. 2016 Apr;291(2):863-72. doi: 10.1007/s00438-015-1151-2. Epub 2015 Nov 30. Mol Genet Genomics. 2016. PMID: 26621368
Ellis-van Creveld syndrome (EvC) is a rare autosomal recessive disorder characterized by disproportionate chondrodysplasia, postaxial polydactyly, nail dystrophy, dental abnormalities and in a proportion of patients, congenital cardiac malformations. . …
Ellis-van Creveld syndrome (EvC) is a rare autosomal recessive disorder characterized by disproportionate chondr …
218 results