BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

354 related articles for article (PubMed ID: 29229899)

  • 21. 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; 28(6):425-7. PubMed ID: 11155425
    [TBL] [Abstract][Full Text] [Related]  

  • 22. [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]  

  • 23. Ellis-van Creveld syndrome in a patient from Tanzania.
    Dekker MCJ; Sadiq AM; Jusabani MA; Mdavire VJ; Baas F; Morton DH; Hamel BCJ
    Am J Med Genet A; 2019 Oct; 179(10):2034-2038. PubMed ID: 31350806
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Ellis-Van Creveld Syndrome in a Neonate.
    Wahid S; Aslam S; Minhas S
    J Coll Physicians Surg Pak; 2018 Mar; 28(3):S44-S45. PubMed ID: 29482704
    [TBL] [Abstract][Full Text] [Related]  

  • 25. 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]  

  • 26. 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]  

  • 27. Ellis-van Creveld syndrome in a neonate: a case report.
    Asif S; Salahudeen AA; Nadeem G; Sattar A
    J Pak Med Assoc; 2023 Mar; 73(3):687-689. PubMed ID: 36932784
    [TBL] [Abstract][Full Text] [Related]  

  • 28. 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]  

  • 29. 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]  

  • 30. 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]  

  • 31. Ellis-van Creveld syndrome with facial hemiatrophy.
    Bhat YJ; Baba AN; Manzoor S; Qayoom S; Javed S; Ajaz H
    Indian J Dermatol Venereol Leprol; 2010; 76(3):266-9. PubMed ID: 20445298
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Ellis-van Creveld syndrome: examination at 15 weeks' gestation.
    Guschmann M; Horn D; Gasiorek-Wiens A; Urban M; Kunze J; Vogel M
    Prenat Diagn; 1999 Sep; 19(9):879-83. PubMed ID: 10521851
    [TBL] [Abstract][Full Text] [Related]  

  • 33. 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]  

  • 34. Ellis-van Creveld syndrome: a case report.
    Hameed M; Jesrani AK; Tariq SM; Hanif H; Bansari S; Kumar A
    J Pak Med Assoc; 2024 Feb; 74(2):391-393. PubMed ID: 38419244
    [TBL] [Abstract][Full Text] [Related]  

  • 35. 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]  

  • 36. 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; 35(1):1-5. PubMed ID: 8661097
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Ellis-Van Creveld Syndrome: Clinical and Molecular Analysis of 50 Individuals.
    Aubert-Mucca M; Huber C; Baujat G; Michot C; Zarhrate M; Bras M; Boutaud L; Malan V; Attie-Bitach T; ; Cormier-Daire V
    J Med Genet; 2023 Apr; 60(4):337-345. PubMed ID: 35927022
    [TBL] [Abstract][Full Text] [Related]  

  • 38. 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]  

  • 39. Ellis van Creveld syndome.
    Ghanekar J; Sangrampurkar S; Hulinaykar R; Ahmer T
    J Assoc Physicians India; 2009 Jul; 57():532-4. PubMed ID: 20329417
    [TBL] [Abstract][Full Text] [Related]  

  • 40. A relatively mild skeletal ciliopathy phenotype consistent with cranioectodermal dysplasia is associated with a homozygous nonsynonymous mutation in WDR35.
    Smith C; Lamont RE; Wade A; Bernier FP; Parboosingh JS; Innes AM
    Am J Med Genet A; 2016 Mar; 170(3):760-5. PubMed ID: 26691894
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 18.