Concepedia
Statistics
Publications
53
Citations
3K
H-Index
29
Active since
1971
Affiliations
Inserm(Current)
Institut National de la Transfusion Sanguine
Centre National de la Recherche Scientifique
Radboud University Nijmegen
Hôpital Necker-Enfants Malades
S Gilgenkrantz is an author at Inserm specializing in genetics, molecular genetics, and life sciences.
Publications per year
1971–2002
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 · 643 citations
Life Sciences, Genetics, Molecular Genetics +11
Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22
Nandita Quaderi, Susann Schweiger, Karin Gaudenz et al. · Nature Genetics · 1997 · 370 citations
Life Sciences, Genetics, Molecular Genetics +10
Cloning and characterization of the human choroideremia gene
Hans van Bokhoven, José A. J. M. van den Hurk, Liesbeth Bogerd et al. · Human Molecular Genetics · 1994 · 165 citations
The same molecular mechanism at the maternal meiosis I produces mono- and dicentric 8p duplications.
Giovanna Floridia, M. Piantanida, Antonella Minelli et al. · PubMed · 1996 · 126 citations
Life Sciences, Genetics, Molecular Genetics +12
Myotubular myopathy in a girl with a deletion at Xq27-q28 and unbalanced X inactivation assigns the MTM1 gene to a 600-kb region.
Niklas Dahl, Lijuan Hu, M. Chery et al. · PubMed · 1995 · 87 citations
Medicine, Genetics, Molecular Genetics +8
1–5 of 53