Jean Louis Pérignon

Mutations in ribosomal protein S19 gene and diamond blackfan anemia: wide variations in phenotypic expression.

Thiébaut-Noël Willig, Natalia Draptchinskaia, Irma Dianzani et al. · PubMed · 1999 · 203 citations

Rps19 Gene, Mendelian Disorder, Phenotypic Expression +13

Bone marrow gene transfer in three patients with adenosine deaminase deficiency.

Peter M. Hoogerbrugge, Victor W. van Beusechem, Alain Fischer et al. · PubMed · 1996 · 189 citations

A Conserved Multi-Gene Family Induces Cross-Reactive Antibodies Effective in Defense against Plasmodium falciparum

Subhash Singh, Soe Soé, Simon Weisman et al. · PLoS ONE · 2009 · 67 citations · Full text

High adenosine deaminase level among healthy probands of Diamond Blackfan anemia (DBA) cosegregates with the DBA gene region on chromosome 19q13. The DBA Working Group of Société d'Immunologie Pédiatrique (SHIP).

Thiébaut-Noël Willig, Jean Louis Pérignon, Petter Gustavsson et al. · PubMed · 1998 · 40 citations

Genetic heterogeneity in partial adenosine deaminase deficiency.

Rochelle Hirschhorn, Frank Martiniuk, V Roegner-Maniscalco et al. · Journal of Clinical Investigation · 1983 · 39 citations · Full text

Genetic Disorder, Medicine, Genetics +12