Jean‐Marie Saudubray

Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy.

Agnès Rötig, Stéphane Blanche, Jean‐Paul Bonnefont et al. · Journal of Clinical Investigation · 1990 · 469 citations · Full text

Genetics, Genetic Epidemiology, Pathology +16

Arrhythmias and Conduction Defects as Presenting Symptoms of Fatty Acid Oxidation Disorders in Children

Damien Bonnet, Delphine Martin, Pascale de Lonlay et al. · Circulation · 1999 · 305 citations · Full text

Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinemic hypoglycemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pancreatectomy.

Pascale de Lonlay, Jean Fournet, Jacques Rahier et al. · Journal of Clinical Investigation · 1997 · 304 citations · Full text

Somatic Deletion, Developmental Biology, Pancreatic Cancer +15

Clinical Features of 52 Neonates with Hyperinsulinism

Pascale de Lonlay-Debeney, F Poggi-Travert, Jean‐Christophe Fournet et al. · New England Journal of Medicine · 1999 · 290 citations · Full text

Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia.

Virginie Verkarre, Jean‐Christophe Fournet, Pascale de Lonlay et al. · Journal of Clinical Investigation · 1998 · 290 citations · Full text

Epigenetic Change, Genetics, Pathology +17