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Journal Abstract Search

181 related items for PubMed ID: 23018678

  • 1. Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to disordered growth factor signalling.
    Hanson D, Murray PG, Coulson T, Sud A, Omokanye A, Stratta E, Sakhinia F, Bonshek C, Wilson LC, Wakeling E, Temtamy SA, Aglan M, Rosser EM, Mansour S, Carcavilla A, Nampoothiri S, Khan WI, Banerjee I, Chandler KE, Black GC, Clayton PE.
    J Mol Endocrinol; 2012 Dec; 49(3):267-75. PubMed ID: 23018678
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  • 4. Identifying biological pathways that underlie primordial short stature using network analysis.
    Hanson D, Stevens A, Murray PG, Black GC, Clayton PE.
    J Mol Endocrinol; 2014 Jun; 52(3):333-44. PubMed ID: 24711643
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  • 5. Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.
    Simsek-Kiper PO, Taskiran E, Kosukcu C, Arslan UE, Cormier-Daire V, Gonc N, Ozon A, Alikasifoglu A, Kandemir N, Utine GE, Alanay Y, Alikasifoglu M, Boduroglu K.
    Am J Med Genet A; 2019 Jul; 179(7):1157-1172. PubMed ID: 30980518
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  • 8. Natural history of facial and skeletal features from neonatal period to adulthood in a 3M syndrome cohort with biallelic CUL7 or OBSL1 variants.
    Tüysüz B, Alp Ünkar Z, Turan H, Gezdirici A, Uludağ Alkaya D, Kasap B, Yeşil G, Vural M, Ercan O.
    Eur J Med Genet; 2021 Dec; 64(12):104346. PubMed ID: 34597859
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  • 10. Ankyrin repeats of ANKRA2 recognize a PxLPxL motif on the 3M syndrome protein CCDC8.
    Nie J, Xu C, Jin J, Aka JA, Tempel W, Nguyen V, You L, Weist R, Min J, Pawson T, Yang XJ.
    Structure; 2015 Apr 07; 23(4):700-12. PubMed ID: 25752541
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  • 14. Identification of two CUL7 variants in two Chinese families with 3-M syndrome by whole-exome sequencing.
    Hu L, Wang X, Jin T, Han Y, Liu J, Jiang M, Yan S, Fu X, An B, Huang S.
    J Clin Lab Anal; 2020 Jul 07; 34(7):e23265. PubMed ID: 32141654
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  • 15. The 3M syndrome.
    Huber C, Munnich A, Cormier-Daire V.
    Best Pract Res Clin Endocrinol Metab; 2011 Feb 07; 25(1):143-51. PubMed ID: 21396581
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  • 16. Prenatal diagnosis and preimplantation genetics testing of 3M syndrome in a Chinese family with novel biallelic variants of CUL7.
    Wang X, He Y, Wang X, Kong X, Lin Y, Yao Y, Huang Y.
    Mol Genet Genomic Med; 2024 Jan 07; 12(1):e2284. PubMed ID: 37877343
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  • 17. 3M syndrome: A Tunisian seven-cases series.
    Khachnaoui-Zaafrane K, Ouertani I, Zanati A, Kandara H, Maazoul F, Mrad R.
    Eur J Med Genet; 2022 Mar 07; 65(3):104448. PubMed ID: 35150935
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  • 18. Novel mutation in Cul7 gene in a family diagnosed with 3M syndrome.
    Shaikh S, Shettigar SKG, Kumar S, Kantharia S, Kurva J, Cherian S.
    J Genet; 2019 Mar 07; 98():. PubMed ID: 30945686
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  • 19. Pre- and post-natal growth in two sisters with 3-M syndrome.
    Lugli L, Bertucci E, Mazza V, Elmakky A, Ferrari F, Neuhaus C, Percesepe A.
    Eur J Med Genet; 2016 Apr 07; 59(4):232-6. PubMed ID: 26850509
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