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160 related items for PubMed ID: 37877343

  • 1. 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; 12(1):e2284. PubMed ID: 37877343
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. 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; 34(7):e23265. PubMed ID: 32141654
    [Abstract] [Full Text] [Related]

  • 4. A rare cause of syndromic short stature: 3M syndrome in three families.
    Isik E, Arican D, Atik T, Ooi JE, Darcan S, Ozen S, Simsek Kiper PO, Utine E, Cogulu O, Ozkinay F.
    Am J Med Genet A; 2021 Feb; 185(2):461-468. PubMed ID: 33258289
    [Abstract] [Full Text] [Related]

  • 5. 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
    [Abstract] [Full Text] [Related]

  • 6. Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth.
    Hanson D, Murray PG, O'Sullivan J, Urquhart J, Daly S, Bhaskar SS, Biesecker LG, Skae M, Smith C, Cole T, Kirk J, Chandler K, Kingston H, Donnai D, Clayton PE, Black GC.
    Am J Hum Genet; 2011 Jul 15; 89(1):148-53. PubMed ID: 21737058
    [Abstract] [Full Text] [Related]

  • 7. 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 15; 49(3):267-75. PubMed ID: 23018678
    [Abstract] [Full Text] [Related]

  • 8. The 3M syndrome.
    Huber C, Munnich A, Cormier-Daire V.
    Best Pract Res Clin Endocrinol Metab; 2011 Feb 15; 25(1):143-51. PubMed ID: 21396581
    [Abstract] [Full Text] [Related]

  • 9. Prenatal and early diagnosis of Chinese 3-M syndrome patients with novel pathogenic variants.
    Hu X, Li H, Gui B, Xu Y, Wang J, Li N, Su J, Zhang S, Song Y, Wang Y, Luo J, Fan X, Wang J, Chen S, Gong C, Shen Y.
    Clin Chim Acta; 2017 Nov 15; 474():159-164. PubMed ID: 28969986
    [Abstract] [Full Text] [Related]

  • 10. Maternal uniparental isodisomy and heterodisomy on chromosome 6 encompassing a CUL7 gene mutation causing 3M syndrome.
    Sasaki K, Okamoto N, Kosaki K, Yorifuji T, Shimokawa O, Mishima H, Yoshiura KI, Harada N.
    Clin Genet; 2011 Nov 15; 80(5):478-83. PubMed ID: 21166787
    [Abstract] [Full Text] [Related]

  • 11. The 3M complex maintains microtubule and genome integrity.
    Yan J, Yan F, Li Z, Sinnott B, Cappell KM, Yu Y, Mo J, Duncan JA, Chen X, Cormier-Daire V, Whitehurst AW, Xiong Y.
    Mol Cell; 2014 Jun 05; 54(5):791-804. PubMed ID: 24793695
    [Abstract] [Full Text] [Related]

  • 12. 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 05; 65(3):104448. PubMed ID: 35150935
    [Abstract] [Full Text] [Related]

  • 13. Exploring the spectrum of 3-M syndrome, a primordial short stature disorder of disrupted ubiquitination.
    Clayton PE, Hanson D, Magee L, Murray PG, Saunders E, Abu-Amero SN, Moore GE, Black GC.
    Clin Endocrinol (Oxf); 2012 Sep 05; 77(3):335-42. PubMed ID: 22624670
    [Abstract] [Full Text] [Related]

  • 14. 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 05; 98():. PubMed ID: 30945686
    [Abstract] [Full Text] [Related]

  • 15. Variant analysis and PGT-M of OTC gene in a Chinese family with ornithine carbamoyltransferase deficiency.
    Zhou Y, Jiang X, Zhang Y, Zhang Y, Sun F, Ma Y.
    BMC Pregnancy Childbirth; 2024 Jul 22; 24(1):491. PubMed ID: 39039447
    [Abstract] [Full Text] [Related]

  • 16. The genetics of 3-M syndrome: unravelling a potential new regulatory growth pathway.
    Hanson D, Murray PG, Black GC, Clayton PE.
    Horm Res Paediatr; 2011 Jul 22; 76(6):369-78. PubMed ID: 22156540
    [Abstract] [Full Text] [Related]

  • 17. Is autosomal recessive Silver-Russel syndrome a separate entity or is it part of the 3-M syndrome spectrum?
    Akawi NA, Ali BR, Hamamy H, Al-Hadidy A, Al-Gazali L.
    Am J Med Genet A; 2011 Jun 22; 155A(6):1236-45. PubMed ID: 21548126
    [Abstract] [Full Text] [Related]

  • 18. Structural and functional insights into a novel homozygous missense pathogenic variant in CUL7 identified in consanguineous Pakistani family.
    Zaka A, Yousaf M, Shahzad S, Rao HZ, Foo JN, Siddiqi S.
    J Biomol Struct Dyn; 2024 Jul 22; 42(10):5092-5103. PubMed ID: 37345548
    [Abstract] [Full Text] [Related]

  • 19. 3-M syndrome - a primordial short stature disorder with novel CUL7 mutation in two Indian patients.
    Akella RRD.
    J Pediatr Endocrinol Metab; 2022 Mar 28; 35(3):399-403. PubMed ID: 34674409
    [Abstract] [Full Text] [Related]

  • 20. Clinical application of NGS-based SNP haplotyping for PGT-M of methylmalonic acidemia.
    He B, Wang L, Wu Q, Wang X, Ji X, Shi W, Shi J, Qiang R, Zhen S.
    Syst Biol Reprod Med; 2022 Feb 28; 68(1):80-88. PubMed ID: 34913786
    [Abstract] [Full Text] [Related]

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