These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

250 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]
    of 13.