Thiébaut-Noël Willig

The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia

Natalia Draptchinskaia, Peter Gustavsson, Björn Andersson et al. · Nature Genetics · 1999 · 782 citations

Genetics, Genomic Mechanism, Molecular Biology +7

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

Identification of New Prognosis Factors from the Clinical and Epidemiologic Analysis of a Registry of 229 Diamond-Blackfan Anemia Patients

Thiébaut-Noël Willig, Charlotte Niemeyer, Thierry Leblanc et al. · Pediatric Research · 1999 · 181 citations · Full text

Epidemiologic Analysis, New Prognosis Factors, Laboratory Hematology +8

Lutheran blood group glycoprotein and its newly characterized mouse homologue specifically bind α5 chain-containing human laminin with high affinity

Stephen F. Parsons, Gloria Lee, Frances A. Spring et al. · Blood · 2001 · 129 citations · Full text

Identification of Microdeletions Spanning the Diamond-Blackfan Anemia Locus on 19q13 and Evidence for Genetic Heterogeneity

Peter Gustavsson, Emanuela Garelli, Natalia Draptchinskaia et al. · The American Journal of Human Genetics · 1998 · 77 citations · Full text

Biology, Genetic Analysis, Allelic Variant +8