Concepedia

C.D. DeLozier-Blanchet

CD

27

Publications

2.2K

Citations

21

H-Index

1984

Active since

Affiliations

University of Geneva(Current)

University Hospital of Geneva

University of Zurich

Institute of Genetics

Hôpital du Valais

C.D. DeLozier-Blanchet is an author at University of Geneva specializing in medicine, pathology, and genetics.

Top concepts

Publications per year

1984–2009

27

Publications

27

Direct Diagnosis by DNA Analysis of the Fragile X Syndrome of Mental Retardation

François Rousseau, Dominique Heitz, Valérie Biancalana et al. · New England Journal of Medicine · 1991 · 641 citations

Mutations in the <i>DNAH11</i> (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia

Lucia Bartoloni, Jean‐Louis Blouin, Yanzhen Pan et al. · Proceedings of the National Academy of Sciences · 2002 · 359 citations · Full text

Angelman syndrome due to paternal uniparental disomy of chromosome 15: A milder phenotype?

Armand Bottani, Wendy P. Robinson, C.D. DeLozier-Blanchet et al. · American Journal of Medical Genetics · 1994 · 188 citations

Molecular characterization of the spectrum of genomic deletions in the mismatch repair genes <i>MSH2</i>, <i>MLH1</i>, <i>MSH6,</i> and <i>PMS2</i> responsible for hereditary nonpolyposis colorectal cancer (HNPCC)

Heleen van der Klift, Juul Wijnen, Anja Wagner et al. · Genes Chromosomes and Cancer · 2005 · 121 citations

Direct Diagnosis by DNA Analysis of the Fragile X Syndrome of Mental Retardation

François Rousseau, Dominique Heitz, Valérie Biancalana et al. · Obstetrical & Gynecological Survey · 1992 · 90 citations

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