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The clinical variability of maternally inherited diabetes and deafness is associated with the degree of heteroplasmy in blood leukocytes.
Laloi-Michelin M, Meas T, Ambonville C, Bellanné-Chantelot C, Beaufils S, Massin P, Vialettes B, Gin H, Timsit J, Bauduceau B, Bernard L, Bertin E, Blickle JF, Cahen-Varsaux J, Cailleba A, Casanova S, Cathebras P, Charpentier G, Chedin P, Crea T, Delemer B, Dubois-Laforgue D, Duchemin F, Ducluzeau PH, Bouhanick B, Dusselier L, Gabreau T, Grimaldi A, Guerci B, Jacquin V, Kaloustian E, Larger E, Lecleire-Collet A, Lorenzini F, Louis J, Mausset J, Murat A, Nadler-Fluteau S, Olivier F, Paquis-Flucklinger V, Paris-Bockel D, Raynaud I, Reznik Y, Riveline JP, Schneebeli S, Sonnet E, Sola-Gazagnes A, Thomas JL, Trabulsi B, Virally M, Guillausseau PJ; Mitochondrial Diabetes French Study Group. Laloi-Michelin M, et al. Among authors: casanova s. J Clin Endocrinol Metab. 2009 Aug;94(8):3025-30. doi: 10.1210/jc.2008-2680. Epub 2009 May 26. J Clin Endocrinol Metab. 2009. PMID: 19470619
Heterogeneity of diabetes phenotype in patients with 3243 bp mutation of mitochondrial DNA (Maternally Inherited Diabetes and Deafness or MIDD).
Guillausseau PJ, Dubois-Laforgue D, Massin P, Laloi-Michelin M, Bellanné-Chantelot C, Gin H, Bertin E, Blickle JF, Bauduceau B, Bouhanick B, Cahen-Varsaux J, Casanova S, Charpentier G, Chedin P, Derrien C, Grimaldi A, Guerci B, Kaloustian E, Lorenzini F, Murat A, Olivier F, Paques M, Paquis-Flucklinger V, Tielmans A, Vincenot M, Vialettes B, Timsit J; GEDIAM, Mitochondrial Diabetes French Study Group. Guillausseau PJ, et al. Among authors: casanova s. Diabetes Metab. 2004 Apr;30(2):181-6. doi: 10.1016/s1262-3636(07)70105-2. Diabetes Metab. 2004. PMID: 15223991
Retinal and renal complications in patients with a mutation of mitochondrial DNA at position 3,243 (maternally inherited diabetes and deafness). A case-control study.
Massin P, Dubois-Laforgue D, Meas T, Laloi-Michelin M, Gin H, Bauduceau B, Bellanné-Chantelot C, Bertin E, Blickle JF, Bouhanick B, Cahen-Varsaux J, Casanova S, Charpentier G, Chedin P, Dupuy O, Grimaldi A, Guerci B, Kaloustian E, Lecleire-Collet A, Lorenzini F, Murat A, Narbonne H, Olivier F, Paquis-Flucklinger V, Virally M, Vincenot M, Vialettes B, Timsit J, Guillausseau PJ; GEDIAM (Mitochondrial Diabetes French Study Group). Massin P, et al. Among authors: casanova s. Diabetologia. 2008 Sep;51(9):1664-70. doi: 10.1007/s00125-008-1073-1. Epub 2008 Jun 26. Diabetologia. 2008. PMID: 18581092
Phaeochromocytoma in multiple endocrine neoplasia type 2 A: survey of 100 cases.
Casanova S, Rosenberg-Bourgin M, Farkas D, Calmettes C, Feingold N, Heshmati HM, Cohen R, Conte-Devolx B, Guillausseau PJ, Houdent C, et al. Casanova S, et al. Clin Endocrinol (Oxf). 1993 May;38(5):531-7. doi: 10.1111/j.1365-2265.1993.tb00350.x. Clin Endocrinol (Oxf). 1993. PMID: 8101147
138 results