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 *

221 related articles for article (PubMed ID: 33050204)

  • 21. Novel large deletion involving EVC and EVC2 in Ellis-van Creveld syndrome.
    Sato H; Suga K; Suzue M; Honma Y; Hayabuchi Y; Miyai S; Kurahashi H; Nakagawa R
    Hum Genome Var; 2022 May; 9(1):15. PubMed ID: 35581188
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis.
    Ruiz-Perez VL; Ide SE; Strom TM; Lorenz B; Wilson D; Woods K; King L; Francomano C; Freisinger P; Spranger S; Marino B; Dallapiccola B; Wright M; Meitinger T; Polymeropoulos MH; Goodship J
    Nat Genet; 2000 Mar; 24(3):283-6. PubMed ID: 10700184
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Ellis-van Creveld Syndrome: Mutations Uncovered in Lebanese Families.
    Valencia M; Tabet L; Yazbeck N; Araj A; Ruiz-Perez VL; Charaffedine K; Fares F; Badra R; Farra C
    Case Rep Genet; 2015; 2015():528481. PubMed ID: 26064711
    [TBL] [Abstract][Full Text] [Related]  

  • 24. 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]  

  • 25. 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]  

  • 26. 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]  

  • 27. 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]  

  • 28. 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]  

  • 29. The Role of Ellis-Van Creveld 2(EVC2) in Mice During Cranial Bone Development.
    Kwon EK; Louie K; Kulkarni A; Yatabe M; Ruellas ACO; Snider TN; Mochida Y; Cevidanes LHS; Mishina Y; Zhang H
    Anat Rec (Hoboken); 2018 Jan; 301(1):46-55. PubMed ID: 28950429
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Prenatal whole exome sequencing identified two rare compound heterozygous variants in EVC2 causing Ellis-van Creveld syndrome.
    Zhuang J; Liu S; Wang J; Chen Y; Zhang H; Jiang Y; Wang G; Chen C
    Mol Genet Genomic Med; 2023 Oct; 11(10):e2242. PubMed ID: 37485807
    [TBL] [Abstract][Full Text] [Related]  

  • 31. 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]  

  • 32. 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]  

  • 33. Ellis van Creveld syndrome in a Tunisian child revealed by an Eisenmenger syndrome.
    Ajmi H; Ruiz Perez VL; Hassayoun S; Mabrouk S; Mahdoui S; Boughzela E; Zouari N; Abroug S
    Int J Pediatr Adolesc Med; 2015; 2(3-4):161-165. PubMed ID: 30805457
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Ellis-van Creveld syndrome: A rare clinical entity.
    Kamal R; Dahiya P; Kaur S; Bhardwaj R; Chaudhary K
    J Oral Maxillofac Pathol; 2013 Jan; 17(1):132-5. PubMed ID: 23798848
    [TBL] [Abstract][Full Text] [Related]  

  • 35. 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]  

  • 36. Loss of Function of Evc2 in Dental Mesenchyme Leads to Hypomorphic Enamel.
    Zhang H; Takeda H; Tsuji T; Kamiya N; Kunieda T; Mochida Y; Mishina Y
    J Dent Res; 2017 Apr; 96(4):421-429. PubMed ID: 28081373
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Ellis-van Creveld syndrome associated with chronic intestinal pseudo-obstruction.
    Iwakura H; Fujii K; Furutani Y; Takatani T; Ebata R; Nakanishi T; Mitsunaga T; Saito T; Kishimoto T; Yoshida H; Shimojo N
    Pediatr Int; 2016 Jan; 58(1):64-6. PubMed ID: 26818569
    [TBL] [Abstract][Full Text] [Related]  

  • 38. 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; 16(1):75-83. PubMed ID: 15844783
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Ellis-van Creveld syndrome: report of two cases.
    Mehndiratta S; Tyagi A; Devgan V
    World J Pediatr; 2011 Nov; 7(4):368-70. PubMed ID: 21210265
    [TBL] [Abstract][Full Text] [Related]  

  • 40. A Ciliary Protein EVC2/LIMBIN Plays a Critical Role in the Skull Base for Mid-Facial Development.
    Kulkarni AK; Louie KW; Yatabe M; Ruellas ACO; Mochida Y; Cevidanes LHS; Mishina Y; Zhang H
    Front Physiol; 2018; 9():1484. PubMed ID: 30410447
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 12.