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Journal Abstract Search
365 related items for PubMed ID: 8661097
1. The gene for the Ellis-van Creveld syndrome is located on chromosome 4p16. Polymeropoulos MH, Ide SE, Wright M, Goodship J, Weissenbach J, Pyeritz RE, Da Silva EO, Ortiz De Luna RI, Francomano CA. Genomics; 1996 Jul 01; 35(1):1-5. PubMed ID: 8661097 [Abstract] [Full Text] [Related]
8. 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 Mar 01; 16(1):75-83. PubMed ID: 15844783 [Abstract] [Full Text] [Related]
11. Novel homozygous mutations in the EVC and EVC2 genes in two consanguineous families segregating autosomal recessive Ellis-van Creveld syndrome. Aziz A, Raza SI, Ali S, Ahmad W. Clin Dysmorphol; 2016 Jan 01; 25(1):1-6. PubMed ID: 26580685 [Abstract] [Full Text] [Related]
12. 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 Jan 01; 28(6):425-7. PubMed ID: 11155425 [Abstract] [Full Text] [Related]
13. Oral abnormalities in the Ellis-van Creveld syndrome. Babaji P. Indian J Dent Res; 2010 Jan 01; 21(1):143-5. PubMed ID: 20427928 [Abstract] [Full Text] [Related]
14. A family with three recessive traits and homozygosity for a long 9qh+ chromosome segment. Christian JC, Dexter RN, Palmer CG, Muller J. Am J Med Genet; 1980 Jan 01; 6(4):301-8. PubMed ID: 6938130 [Abstract] [Full Text] [Related]
15. A novel missense mutation in the EVC gene underlies Ellis-van Creveld syndrome in a Pakistani family. Umm-E-Kalsoom, Wasif N, Tariq M, Ahmad W. Pediatr Int; 2010 Apr 01; 52(2):240-6. PubMed ID: 19744229 [Abstract] [Full Text] [Related]
16. Ellis Van Creveld syndrome. Shilpy S, Nikhil M, Samir D. J Indian Soc Pedod Prev Dent; 2007 Apr 01; 25 Suppl():S5-7. PubMed ID: 17921643 [Abstract] [Full Text] [Related]
19. Phenotypic Variation in Patients with Homozygous c.1678G>T Mutation in EVC Gene: Report of Two Mexican Families with Ellis-van Creveld Syndrome. Ibarra-Ramirez M, Campos-Acevedo LD, Lugo-Trampe J, Martínez-Garza LE, Martinez-Glez V, Valencia-Benitez M, Lapunzina P, Ruiz-Peréz V. Am J Case Rep; 2017 Dec 12; 18():1325-1329. PubMed ID: 29229899 [Abstract] [Full Text] [Related]