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Journal Abstract Search

163 related items for PubMed ID: 29372559

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  • 2. Duplications of GPC3 and GPC4 genes in symptomatic female carriers of Simpson-Golabi-Behmel syndrome type 1.
    Schirwani S, Novelli A, Digilio MC, Bourn D, Wilson V, Roberts C, Dallapiccola B, Hobson E.
    Eur J Med Genet; 2019 Apr; 62(4):243-247. PubMed ID: 30048822
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  • 4. Prenatal case of Simpson-Golabi-Behmel syndrome with a de novo 370Kb-sized microdeletion of Xq26.2 compassing partial GPC3 gene and review.
    Liu J, Liu Q, Yang S, Ma N, Pang J, Peng Y, Xi H, Jia Z, Luo Y, Jiang M, Teng Y, Yu W, Li Z, Wang H.
    Mol Genet Genomic Med; 2021 Aug; 9(8):e1750. PubMed ID: 34293831
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  • 6. Duplication of exon 2 of the GPC3 gene in a case of Simpson-Golabi-Behmel syndrome.
    Cottereau E, Moizard MP, David A, Raynaud M, Marmin N, Toutain A.
    Am J Med Genet A; 2014 Jan; 164A(1):282-4. PubMed ID: 24214682
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  • 12. The Simpson-Golabi-Behmel syndrome: A clinical case and a detective story.
    Gurrieri F, Pomponi MG, Pietrobono R, Lucci-Cordisco E, Silvestri E, Storniello G, Neri G.
    Am J Med Genet A; 2011 Jan; 155A(1):145-8. PubMed ID: 21204223
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  • 14. A male newborn with Simpson-Golabi-Behmel syndrome, presenting with metopic synostosis, anal atresia, and total anomalous pulmonary venous return.
    Demir N, Peker E, Ece I, Kaba S, Doğan M, Tuncer O.
    Genet Couns; 2014 Jan; 25(4):439-43. PubMed ID: 25804025
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  • 16. Simpson-Golabi-Behmel syndrome in a female: A case report and an unsolved issue.
    Vaisfeld A, Pomponi MG, Pietrobono R, Tabolacci E, Neri G.
    Am J Med Genet A; 2017 Jan; 173(1):285-288. PubMed ID: 27739211
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  • 17. Simpson-Golabi-Behmel syndrome: One family, same mutation, different outcome.
    Fernandes C, Paúl A, Venâncio MM, Ramos F.
    Am J Med Genet A; 2021 Aug; 185(8):2502-2506. PubMed ID: 34003580
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  • 19. Distinctive findings in a boy with Simpson-Golabi-Behmel syndrome.
    Halayem S, Hamza M, Maazoul F, Ben Turkia H, Touati M, Tebib N, Mrad R, Bouden A.
    Am J Med Genet A; 2016 Apr; 170A(4):1035-9. PubMed ID: 26692054
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  • 20. A patient with a unique frameshift mutation in GPC3, causing Simpson-Golabi-Behmel syndrome, presenting with craniosynostosis, penoscrotal hypospadias, and a large prostatic utricle.
    Villarreal DD, Villarreal H, Paez AM, Peppas D, Lynch J, Roeder E, Powers GC.
    Am J Med Genet A; 2013 Dec; 161A(12):3121-5. PubMed ID: 24115482
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