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Page 1
Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort.
Lavoine N, Colas C, Muleris M, Bodo S, Duval A, Entz-Werle N, Coulet F, Cabaret O, Andreiuolo F, Charpy C, Sebille G, Wang Q, Lejeune S, Buisine MP, Leroux D, Couillault G, Leverger G, Fricker JP, Guimbaud R, Mathieu-Dramard M, Jedraszak G, Cohen-Hagenauer O, Guerrini-Rousseau L, Bourdeaut F, Grill J, Caron O, Baert-Dusermont S, Tinat J, Bougeard G, Frébourg T, Brugières L. Lavoine N, et al. Among authors: sebille g. J Med Genet. 2015 Nov;52(11):770-8. doi: 10.1136/jmedgenet-2015-103299. Epub 2015 Aug 28. J Med Genet. 2015. PMID: 26318770 Review.
Guidelines for surveillance of individuals with constitutional mismatch repair-deficiency proposed by the European Consortium "Care for CMMR-D" (C4CMMR-D).
Vasen HF, Ghorbanoghli Z, Bourdeaut F, Cabaret O, Caron O, Duval A, Entz-Werle N, Goldberg Y, Ilencikova D, Kratz CP, Lavoine N, Loeffen J, Menko FH, Muleris M, Sebille G, Colas C, Burkhardt B, Brugieres L, Wimmer K; EU-Consortium Care for CMMR-D (C4CMMR-D). Vasen HF, et al. Among authors: sebille g. J Med Genet. 2014 May;51(5):283-93. doi: 10.1136/jmedgenet-2013-102238. Epub 2014 Feb 20. J Med Genet. 2014. PMID: 24556086
Spectrum and Prognosis of Noninfectious Renal Mixed Cryoglobulinemic GN.
Zaidan M, Terrier B, Pozdzik A, Frouget T, Rioux-Leclercq N, Combe C, Lepreux S, Hummel A, Noël LH, Marie I, Legallicier B, François A, Huart A, Launay D, Kaplanski G, Bridoux F, Vanhille P, Makdassi R, Augusto JF, Rouvier P, Karras A, Jouanneau C, Verpont MC, Callard P, Carrat F, Hermine O, Léger JM, Mariette X, Senet P, Saadoun D, Ronco P, Brochériou I, Cacoub P, Plaisier E; CryoVas study group. Zaidan M, et al. J Am Soc Nephrol. 2016 Apr;27(4):1213-24. doi: 10.1681/ASN.2015020114. Epub 2015 Aug 10. J Am Soc Nephrol. 2016. PMID: 26260165 Free PMC article.