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Journal Abstract Search

235 related items for PubMed ID: 37107645

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  • 2. 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
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  • 4. 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 12; 18():1325-1329. PubMed ID: 29229899
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  • 6. 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 12; 185(10):2888-2894. PubMed ID: 34037314
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  • 7. 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 12; 96(6):1005-1014. PubMed ID: 29321360
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  • 9. 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 12; 155A(9):2131-6. PubMed ID: 21815252
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  • 11. 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 12; 7(9):e885. PubMed ID: 31338997
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  • 12. 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 20; 61(7):633-644. PubMed ID: 38531627
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  • 14. 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 20; 25(1):1-6. PubMed ID: 26580685
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  • 18. 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 20; 11(10):e2242. PubMed ID: 37485807
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  • 19. 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 20; 30(12):1667-75. PubMed ID: 19810119
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  • 20. 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 20; 291(2):863-72. PubMed ID: 26621368
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