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 *

218 related articles for article (PubMed ID: 32072716)

  • 1. Ellis-van Creveld syndrome: Report of a case and recurrent variant.
    Eftekhariyazdi M; Meshkani M; Moslem A; Hakimi P; Safari S; Khaligh A; Zare-Abdollahi D
    J Gene Med; 2020 Jun; 22(6):e3175. PubMed ID: 32072716
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Ellis-van Creveld syndrome and profound deafness resulted by sequence variants in the EVC/EVC2 and TMC1 genes.
    Umair M; Seidel H; Ahmed I; Ullah A; Haack TB; Alhaddad B; Jan A; Rafique A; Strom TM; Ahmad F; Meitinger T; Ahmad W
    J Genet; 2017 Dec; 96(6):1005-1014. PubMed ID: 29321360
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. A homozygous EVC mutation in a prenatal fetus with Ellis-van Creveld syndrome.
    Wang J; Wang X; Jia Y; Li X; Liu G; Sa R; Yu H
    Mol Genet Genomic Med; 2023 Aug; 11(8):e2183. PubMed ID: 37157924
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome.
    Niceta M; Margiotti K; Digilio MC; Guida V; Bruselles A; Pizzi S; Ferraris A; Memo L; Laforgia N; Dentici ML; Consoli F; Torrente I; Ruiz-Perez VL; Dallapiccola B; Marino B; De Luca A; Tartaglia M
    Clin Genet; 2018 Mar; 93(3):632-639. PubMed ID: 28857138
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. 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
    Am J Med Genet A; 2021 Oct; 185(10):2888-2894. PubMed ID: 34037314
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. Two novel heterozygous mutations of EVC2 cause a mild phenotype of Ellis-van Creveld syndrome in a Chinese family.
    Shen W; Han D; Zhang J; Zhao H; Feng H
    Am J Med Genet A; 2011 Sep; 155A(9):2131-6. PubMed ID: 21815252
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis.
    Altunoglu U; Palencia-Campos A; Güneş N; Turgut GT; Nevado J; Lapunzina P; Valencia M; Iturrate A; Otaify G; Elhossini R; Ashour A; K Amin A; Elnahas RF; Fernandez-Nuñez E; Flores CL; Arias P; Tenorio J; Chamorro Fernández CI; Güven Y; Özsu E; Eklioğlu BS; Ibarra-Ramirez M; Diness BR; Burnyte B; Ajmi H; Yüksel Z; Yıldırım R; Ünal E; Abdalla E; Aglan M; Kayserili H; Tuysuz B; Ruiz-Pérez V
    J Med Genet; 2024 Jun; 61(7):633-644. PubMed ID: 38531627
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Identification of a novel EVC variant in a Han-Chinese family with Ellis-van Creveld syndrome.
    Huang X; Guo Y; Xu H; Yang Z; Deng X; Deng H; Yuan L
    Mol Genet Genomic Med; 2019 Sep; 7(9):e885. PubMed ID: 31338997
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Common atrium/atrioventricular canal defect and postaxial polydactyly: A mild clinical subtype of Ellis-van Creveld syndrome caused by hypomorphic mutations in the EVC gene.
    Piceci-Sparascio F; Palencia-Campos A; Soto-Bielicka P; D'Anzi A; Guida V; Rosati J; Caparros-Martin JA; Torrente I; D'Asdia MC; Versacci P; Briuglia S; Lapunzina P; Tartaglia M; Marino B; Digilio MC; Ruiz-Perez VL; De Luca A
    Hum Mutat; 2020 Dec; 41(12):2087-2093. PubMed ID: 32906221
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. [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]  

  • 19. 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]  

  • 20. Autosomal dominant postaxial polydactyly, nail dystrophy, and dental abnormalities map to chromosome 4p16, in the region containing the Ellis-van Creveld syndrome locus.
    Howard TD; Guttmacher AE; McKinnon W; Sharma M; McKusick VA; Jabs EW
    Am J Hum Genet; 1997 Dec; 61(6):1405-12. PubMed ID: 9399901
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.