Christiane Duponchel

Frequent de novo mutations and exon deletions in the C1inhibitor gene of patients with angioedema

Emanuela Pappalardo, Marco Cicardi, Christiane Duponchel et al. · Journal of Allergy and Clinical Immunology · 2000 · 244 citations · Full text

C1inhibitor Gene, Exon Deletions, Genetics +4

Complete cDNA sequence of human complement C1s and close physical linkage of the homologous genes C1s and C1r

Mario Tosi, Christiane Duponchel, Tommaso Meo et al. · Biochemistry · 1987 · 119 citations

Serine Protease Domain, Genetics, Tandem Gene Duplication +21

Complete nucleotide sequence of the gene for human C1 inhibitor with an unusually high density of <i>Alu</i> elements

Philip E. Carter, Christiane Duponchel, Mario Tosi et al. · European Journal of Biochemistry · 1991 · 118 citations

Contribution of bioinformatics predictions and functional splicing assays to the interpretation of unclassified variants of the BRCA genes

Jean Christophe Théry, Sophie Krieger, Pascaline Gaildrat et al. · European Journal of Human Genetics · 2011 · 94 citations · Full text

Biology, Functional Genomics, Bioinformatics Predictions +11

Hereditary angioedema: The mutation spectrum of<i>SERPING1/C1NH</i>in a large Spanish cohort

O. Roche, Alvaro Blanch, Christiane Duponchel et al. · Human Mutation · 2005 · 79 citations