Jean‐Louis Serre

Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles

Delphine Fauvert, Isabelle Brun‐Heath, Anne-Sophie Lia-Baldini et al. · BMC Medical Genetics · 2009 · 146 citations · Full text

Mutations in<i>TREM2</i>lead to pure early-onset dementia without bone cysts

Éliane Chouery, Valérie Delague, Anne Bergougnoux et al. · Human Mutation · 2008 · 123 citations · Full text

Neurodegenerative Diseases, Lebanese Family, Engineering +14

Molecular definition of the 11p15.5 region involved in Beckwith-Wiedemann syndrome and probably in predisposition to adrenocortical carcinoma

Isabelle Henry, Marc Jeanpierre, P. Couillin et al. · Human Genetics · 1989 · 99 citations

Beckwith-wiedemann Syndrome, Adrenocortical Carcinoma, Pathology +5

Screening of the C677T mutation on the methylenetetrahydrofolate reductase gene in French patients with neural tube defects

E. Mornet, Fran�oise Muller, Annie Lenvois�-Furet et al. · Human Genetics · 1997 · 98 citations

Mendelian Disorder, Genetic Disorder, Genetics +10

DNA polymorphism analysis in families with recurrence of free trisomy 21

Constantinos Pángalos, C. Conover Talbot, John G. Lewis et al. · PubMed · 1992 · 62 citations · Full text