J Cahen-Varsaux

Focal segmental glomerulosclerosis associated with mitochondrial cytopathy

Luc Moulonguet Doleris, Gary S. Hill, Pierre Chédin et al. · Kidney International · 2000 · 98 citations · Full text

The Clinical Variability of Maternally Inherited Diabetes and Deafness Is Associated with the Degree of Heteroplasmy in Blood Leukocytes

M. Laloi‐Michelin, T. Méas, C. Ambonville et al. · The Journal of Clinical Endocrinology & Metabolism · 2009 · 95 citations

Heterogeneity of diabetes phenotype in patients with 3243 bp mutation of mitochondrial DNA (Maternally Inherited Diabetes and Deafness or MIDD)

Guillausseau Pj, Danièle Dubois‐Laforgue, Pascale Massin et al. · Diabetes & Metabolism · 2004 · 75 citations

Metabolic Syndrome, Bp Mutation, Genetic Determinant +9

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

Pascale Massin, Danièle Dubois‐Laforgue, T. Méas et al. · Diabetologia · 2008 · 44 citations · Full text

Renal Complications, Mendelian Disorder, Ophthalmology +8

Longitudinal Evaluation of the Hypothalamic-Pituitary-Testicular Function in 8 Boys with Adrenal Hypoplasia Congenita (AHC) Due to NR0B1 Mutations

Caroline Galeotti, Z. Lahlou, Domitille Goullon et al. · PLoS ONE · 2012 · 14 citations · Full text