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Journal Abstract Search

208 related items for PubMed ID: 22624670

  • 1. 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; 77(3):335-42. PubMed ID: 22624670
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  • 2. 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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  • 5. Whole-exome sequencing gives additional benefits compared to candidate gene sequencing in the molecular diagnosis of children with growth hormone or IGF-1 insensitivity.
    Shapiro L, Chatterjee S, Ramadan DG, Davies KM, Savage MO, Metherell LA, Storr HL.
    Eur J Endocrinol; 2017 Dec; 177(6):485-501. PubMed ID: 28870985
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  • 6. 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. The Effect of Combined Growth Hormone and a Gonadotropin-Releasing Hormone Agonist Therapy on Height in Korean 3-M Syndrome Siblings.
    Lee IK, Lim HH, Kim YM.
    Yonsei Med J; 2020 Nov; 61(11):981-985. PubMed ID: 33107243
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  • 15. A Rare Cause of Short Stature: 3M Syndrome in a Patient with Novel Mutation in OBSL1 Gene.
    Keskin M, Muratoğlu Şahin N, Kurnaz E, Bayramoğlu E, Savaş Erdeve Ş, Aycan Z, Çetinkaya S.
    J Clin Res Pediatr Endocrinol; 2017 Mar 01; 9(1):91-94. PubMed ID: 27796265
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  • 16. 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 01; 65(3):104448. PubMed ID: 35150935
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  • 20. 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 01; 59(4):232-6. PubMed ID: 26850509
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