Gene Review:
EVC - Ellis van Creveld syndrome
Homo sapiens
Synonyms:
DWF-1, EVC1, EVCL, Ellis-van Creveld syndrome protein
- Haplotype and linkage disequilibrium analysis of the CRMP1 and EVC genes. Sivakumaran, T.A., Lesperance, M.M. Int. J. Mol. Med. (2004)
- The gene for the Ellis-van Creveld syndrome is located on chromosome 4p16. Polymeropoulos, M.H., Ide, S.E., Wright, M., Goodship, J., Weissenbach, J., Pyeritz, R.E., Da Silva, E.O., Ortiz De Luna, R.I., Francomano, C.A. Genomics (1996)
- Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. Ruiz-Perez, V.L., Ide, S.E., Strom, T.M., Lorenz, B., Wilson, D., Woods, K., King, L., Francomano, C., Freisinger, P., Spranger, S., Marino, B., Dallapiccola, B., Wright, M., Meitinger, T., Polymeropoulos, M.H., Goodship, J. Nat. Genet. (2000)
- Exclusion of the Ellis-van Creveld region on chromosome 4p16 in some families with asphyxiating thoracic dystrophy and short-rib polydactyly syndromes. Krakow, D., Salazar, D., Wilcox, W.R., Rimoin, D.L., Cohn, D.H. Eur. J. Hum. Genet. (2000)
- Cardiac malformations in patients with oral-facial-skeletal syndromes: clinical similarities with heterotaxia. Digilio, M.C., Marino, B., Ammirati, A., Borzaga, U., Giannotti, A., Dallapiccola, B. Am. J. Med. Genet. (1999)
- Prenatal diagnosis of chondroectodermal dysplasia (Ellis-van Creveld syndrome) with fetoscopy and ultrasound. Mahoney, M.J., Hobbins, J.C. N. Engl. J. Med. (1977)
- Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome. Ruiz-Perez, V.L., Tompson, S.W., Blair, H.J., Espinoza-Valdez, C., Lapunzina, P., Silva, E.O., Hamel, B., Gibbs, J.L., Young, I.D., Wright, M.J., Goodship, J.A. Am. J. Hum. Genet. (2003)
- Autosomal dominant postaxial polydactyly, nail dystrophy, and dental abnormalities map to chromosome 4p16, in the region containing the Ellis-van Creveld syndrome locus. Howard, T.D., Guttmacher, A.E., McKinnon, W., Sharma, M., McKusick, V.A., Jabs, E.W. Am. J. Hum. Genet. (1997)
- Exclusion of the MSX1 homeobox gene as the gene for the Ellis van Creveld syndrome in the Amish. Ide, S.E., Ortiz de Luna, R.I., Francomano, C.A., Polymeropoulos, M.H. Hum. Genet. (1996)
- Immunohistochemistry of adhesion molecules,metalloproteinases and no-synthases in extravillous trophoblast of tubal pregnancy. Dubernard, G., Galtier-Fougairolles, M., Cortez, A., Uzan, S., Challier, J.C. Cell. Mol. Biol. (Noisy-le-grand) (2005)
- Chondroectodermal dysplasia (Ellis--van Creveld syndrome) with dysplasia of renal medulla and bile ducts. Böhm, N., Fukuda, M., Staudt, R., Helwig, H. Histopathology (1978)
- Skeletal histopathology in fetuses with chondroectodermal dysplasia (Ellis-van Creveld syndrome). Qureshi, F., Jacques, S.M., Evans, M.I., Johnson, M.P., Isada, N.B., Yang, S.S. Am. J. Med. Genet. (1993)
- Short rib-polydactyly syndrome, type 3 with chondrocytic inclusions: report of a case and review of the literature. Yang, S.S., Lin, C.S., Al Saadi, A., Nangia, B.S., Bernstein, J. Am. J. Med. Genet. (1980)
- Correction of knee deformity in patients with Ellis-van Creveld syndrome. Shibata, T., Kawabata, H., Yasui, N., Nakahara, H., Hirabayashi, S., Nakase, T., Ochi, T. Journal of pediatric orthopaedics. Part B / European Paediatric Orthopaedic Society, Pediatric Orthopaedic Society of North America. (1999)
- Vital capacities in acute and chronic airway obstruction: dependence on flow and volume histories. Brusasco, V., Pellegrino, R., Rodarte, J.R. Eur. Respir. J. (1997)
- Genomic structure and localization of the human protein phosphatase 2A BRgamma regulatory subunit. Torres, R., Ide, S.E., Dehejia, A., Baras, A., Polymeropoulos, M.H. DNA Res. (1999)
- Ellis-van Creveld syndrome and dyserythropoiesis. Scurlock, D., Ostler, D., Nguyen, A., Wahed, A. Arch. Pathol. Lab. Med. (2005)
- Molecular pathology and genetics of congenital hepatorenal fibrocystic syndromes. Johnson, C.A., Gissen, P., Sergi, C. J. Med. Genet. (2003)
- Oral-facial-digital syndrome with acromelic short stature: a new variant--overlap with Ellis Van Creveld syndrome. Phadke, S.R., Pahi, J., Pandey, A., Agarwal, S.S. Clin. Dysmorphol. (1999)
- Prediction equations for plethysmographic lung volumes. Roca, J., Burgos, F., Barberà, J.A., Sunyer, J., Rodriguez-Roisin, R., Castellsagué, J., Sanchis, J., Antóo, J.M., Casan, P., Clausen, J.L. Respiratory medicine. (1998)
- Ellis-van Creveld Syndrome: a report of two cases. Arya, L., Mendiratta, V., Sharma, R.C., Solanki, R.S. Pediatric dermatology. (2001)
- Ellis-van Creveld syndrome: dental, clinical, genetic and dermatoglyphic findings of a case. Atasu, M., Biren, S. The Journal of clinical pediatric dentistry. (2000)
- Ellis-van Creveld syndrome: examination at 15 weeks' gestation. Guschmann, M., Horn, D., Gasiorek-Wiens, A., Urban, M., Kunze, J., Vogel, M. Prenat. Diagn. (1999)
- Increased first-trimester fetal nuchal translucency thickness in association with chondroectodermal dysplasia (Ellis-Van Creveld syndrome). Venkat-Raman, N., Sebire, N.J., Murphy, K.W., Carvalho, J.S., Hall, C.M. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology. (2005)