252 related articles for article (PubMed ID: 17024374)
1. Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients.
Tompson SW; Ruiz-Perez VL; Blair HJ; Barton S; Navarro V; Robson JL; Wright MJ; Goodship JA
Hum Genet; 2007 Jan; 120(5):663-70. PubMed ID: 17024374
[TBL] [Abstract][Full Text] [Related]
2. 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. PubMed ID: 23220543
[TBL] [Abstract][Full Text] [Related]
3. Novel mutations in EVC cause aberrant splicing in Ellis-van Creveld syndrome.
Shi L; Luo C; Ahmed MK; Attaie AB; Ye X
Mol Genet Genomics; 2016 Apr; 291(2):863-72. PubMed ID: 26621368
[TBL] [Abstract][Full Text] [Related]
4. 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. PubMed ID: 26748586
[TBL] [Abstract][Full Text] [Related]
5. 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; 25(1):1-6. PubMed ID: 26580685
[TBL] [Abstract][Full Text] [Related]
6. 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; 52(2):240-6. PubMed ID: 19744229
[TBL] [Abstract][Full Text] [Related]
7. Molecular and clinical analysis of Ellis-van Creveld syndrome in the United Arab Emirates.
Ali BR; Akawi NA; Chedid F; Bakir M; Ur Rehman M; Rahmani A; Al-Gazali L
BMC Med Genet; 2010 Feb; 11():33. PubMed ID: 20184732
[TBL] [Abstract][Full Text] [Related]
8. 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. PubMed ID: 19810119
[TBL] [Abstract][Full Text] [Related]
9. 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; 18():1325-1329. PubMed ID: 29229899
[TBL] [Abstract][Full Text] [Related]
10. Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands.
Ruiz-Perez VL; Goodship JA
Am J Med Genet C Semin Med Genet; 2009 Nov; 151C(4):341-51. PubMed ID: 19876929
[TBL] [Abstract][Full Text] [Related]
11. 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; 511(2):380-2. PubMed ID: 23026208
[TBL] [Abstract][Full Text] [Related]
12. Role of primary cilia and Hedgehog signaling in craniofacial features of Ellis-van Creveld syndrome.
Thomas DC; Moorthy JD; Prabhakar V; Ajayakumar A; Pitchumani PK
Am J Med Genet C Semin Med Genet; 2022 Mar; 190(1):36-46. PubMed ID: 35393766
[TBL] [Abstract][Full Text] [Related]
13. 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. PubMed ID: 26077781
[TBL] [Abstract][Full Text] [Related]
14. A new gene, EVC2, is mutated in Ellis-van Creveld syndrome.
Galdzicka M; Patnala S; Hirshman MG; Cai JF; Nitowsky H; Egeland JA; Ginns EI
Mol Genet Metab; 2002 Dec; 77(4):291-5. PubMed ID: 12468274
[TBL] [Abstract][Full Text] [Related]
15. Long interspersed nuclear element-1 (LINE1)-mediated deletion of EVC, EVC2, C4orf6, and STK32B in Ellis-van Creveld syndrome with borderline intelligence.
Temtamy SA; Aglan MS; Valencia M; Cocchi G; Pacheco M; Ashour AM; Amr KS; Helmy SM; El-Gammal MA; Wright M; Lapunzina P; Goodship JA; Ruiz-Perez VL
Hum Mutat; 2008 Jul; 29(7):931-8. PubMed ID: 18454448
[TBL] [Abstract][Full Text] [Related]
16. Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene.
Ulucan H; Gül D; Sapp JC; Cockerham J; Johnston JJ; Biesecker LG
BMC Med Genet; 2008 Oct; 9():92. PubMed ID: 18947413
[TBL] [Abstract][Full Text] [Related]
17. [From gene to disease; EVC, EVC2, and Ellis-van Creveld syndrome].
van Hagen JM; Baart JA; Gille JJ
Ned Tijdschr Geneeskd; 2005 Apr; 149(17):929-31. PubMed ID: 15884406
[TBL] [Abstract][Full Text] [Related]
18. Identification of Compound Heterozygous
Negrete-Torres N; Chima-Galán MDC; Sierra-López EA; Sánchez-Ramos J; Álvarez-González I; Reyes-Reali J; Mendoza-Ramos MI; Garrido-Guerrero E; Amato D; Méndez-Catalá CF; Pozo-Molina G; Méndez-Cruz AR
Genes (Basel); 2023 Apr; 14(4):. PubMed ID: 37107645
[TBL] [Abstract][Full Text] [Related]
19. Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome.
Ruiz-Perez VL; Tompson SW; Blair HJ; Espinoza-Valdez C; Lapunzina P; Silva EO; Hamel B; Gibbs JL; Young ID; Wright MJ; Goodship JA
Am J Hum Genet; 2003 Mar; 72(3):728-32. PubMed ID: 12571802
[TBL] [Abstract][Full Text] [Related]
20. A novel heterozygous deletion in the EVC2 gene causes Weyers acrofacial dysostosis.
Ye X; Song G; Fan M; Shi L; Jabs EW; Huang S; Guo R; Bian Z
Hum Genet; 2006 Mar; 119(1-2):199-205. PubMed ID: 16404586
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
