Concepedia

Irène Boccaccio

IB

Statistics

Publications

8

Citations

2.7K

H-Index

8

Active since

1999

Affiliations

Inserm(Current)

Génétique Médicale & Génomique Fonctionelle

University Hospital Heidelberg

Amsterdam UMC Location University of Amsterdam

University Medical Center Utrecht

Irène Boccaccio is an author at Inserm specializing in life sciences, genetics, and molecular genetics.

Publications per year

1999–2008

8

Publications

8

Lamin A Truncation in Hutchinson-Gilford Progeria

Annachiara De Sandre‐Giovannoli, Rafaëlle Bernard, Pierre Cau et al. · Science · 2003 · 1.5K citations

, , +4

Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy

Claire Navarro, Annachiara De Sandre‐Giovannoli, Rafaëlle Bernard et al. · Human Molecular Genetics · 2004 · 368 citations · Full text

, , +17

Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors

Claire Navarro, Juan Cadiñanos, Annachiara De Sandre‐Giovannoli et al. · Human Molecular Genetics · 2005 · 291 citations · Full text

, , +15

The Human Magel2 Gene and Its Mouse Homologue Are Paternally Expressed and Mapped to the Prader-Willi Region

Irène Boccaccio, Heather R. Glatt-Deeley, Françoise Watrin et al. · Human Molecular Genetics · 1999 · 185 citations

, , +10

Mutations in FGD4 Encoding the Rho GDP/GTP Exchange Factor FRABIN Cause Autosomal Recessive Charcot-Marie-Tooth Type 4H

Valérie Delague, Arnaud Jacquier, Tarik Hamadouche et al. · The American Journal of Human Genetics · 2007 · 159 citations · Full text

, , +8

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