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Journal Abstract Search

153 related items for PubMed ID: 26850509

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  • 3. 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; 98():. PubMed ID: 30945686
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  • 4. The 3M syndrome.
    Huber C, Munnich A, Cormier-Daire V.
    Best Pract Res Clin Endocrinol Metab; 2011 Feb; 25(1):143-51. PubMed ID: 21396581
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  • 5. 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; 80(5):478-83. PubMed ID: 21166787
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  • 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
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  • 7. 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 15; 34(7):e23265. PubMed ID: 32141654
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  • 9. 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
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  • 10. 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 15; 179(7):1157-1172. PubMed ID: 30980518
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  • 12. 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 15; 76(6):369-78. PubMed ID: 22156540
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  • 13. 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
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  • 15. Hip dislocation in 3-M syndrome: risk of misdiagnosis.
    Badina A, Pejin Z, Odent T, Buzescu A, Huber C, Cormier-Daire V, Glorion C, Pannier S.
    Clin Dysmorphol; 2011 Apr 28; 20(2):114-116. PubMed ID: 21383554
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  • 20. 3-M syndrome associated with growth hormone deficiency: 18 year follow-up of a patient.
    Meazza C, Lausch E, Pagani S, Bozzola E, Calcaterra V, Superti-Furga A, Silengo M, Bozzola M.
    Ital J Pediatr; 2013 Mar 21; 39():21. PubMed ID: 23517720
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