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Novel mutational mechanism in the thyroglobulin gene: imperfect DNA inversion as a cause for hereditary hypothyroidism.
Citterio CE, Rossetti LC, Souchon PF, Morales C, Thouvard-Viprey M, Salmon-Musial AS, Mauran PL, Doco-Fenzy M, González-Sarmiento R, Rivolta CM, De Brasi CD, Targovnik HM. Citterio CE, et al. Among authors: mauran pl. Mol Cell Endocrinol. 2013 Dec 5;381(1-2):220-9. doi: 10.1016/j.mce.2013.07.034. Epub 2013 Aug 7. Mol Cell Endocrinol. 2013. PMID: 23933148
Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families.
Callewaert BL, Willaert A, Kerstjens-Frederikse WS, De Backer J, Devriendt K, Albrecht B, Ramos-Arroyo MA, Doco-Fenzy M, Hennekam RC, Pyeritz RE, Krogmann ON, Gillessen-kaesbach G, Wakeling EL, Nik-zainal S, Francannet C, Mauran P, Booth C, Barrow M, Dekens R, Loeys BL, Coucke PJ, De Paepe AM. Callewaert BL, et al. Hum Mutat. 2008 Jan;29(1):150-8. doi: 10.1002/humu.20623. Hum Mutat. 2008. PMID: 17935213