Author

Jean‐Christophe Marinoni

Observed names: J C Marinoni, JC Marinoni, Jean-Christophe Marinoni

Institutions: Hôpital Necker-Enfants Malades, Inserm, Université Paris Descartes

Observed institutions: Hôpital Necker-Enfants Malades, Centre National de la Recherche Scientifique, Inserm, Institut de génétique et de biologie moléculaire et cellulaire, Greenwood Genetic Center, Université Paris Descartes

OpenAlex ID: A5111829923

Mutations in the XPD helicase gene result in XP and TTD phenotypes, preventing interaction between XPD and the p44 subunit of TFIIH

1998 · Frédéric Coin, Jean-Christophe Marinoni, et al. · Nature Genetics · 358

A Third Major Locus for Autosomal Dominant Hypercholesterolemia Maps to 1p34.1-p32

1999 · Mathilde Varret, Jean-Pierre Rabès, et al. · The American Journal of Human Genetics · 179

Cloning and characterization of p52, the fifth subunit of the core of the transcription/DNA repair factor TFIIH

1997 · Jean‐Christophe Marinoni, Richard Roy, et al. · The EMBO Journal · 75

Split foot and developmental retardation associated with a deletion of three microsatellite markers in 7q21.2‐q22.1

1995 · Jean‐Christophe Marinoni, Roger E. Stevenson, et al. · Clinical Genetics · 33

Purification of the Transcription/Repair Factor TFIIH and Evaluation of Its Associated Activitiesin Vitro

1997 · Jean-Christophe Marinoni, Mireille Rossignol, et al. · Methods · 19

Mutations in XPD helicase prevent its interaction and regulation by p44, another subunit of TFIIH, resulting in Xeroderma pigmentosum (XP) and trichothiodystrophy (TTD) phenotypes.

1998 · F Coin, J C Marinoni, et al. · PubMed · 11

Familial split hand/split foot long bone deficiency does not segregate with markers linked to the SHFD1 locus in 7q21.3–q22.1

1994 · Jean-Christophe Marinoni, Ellen Boyd, et al. · Human Molecular Genetics · 11

Le xeroderma pigmentosum, ou comment l'absence d'interaction entre une hélicase et son régulateur est à l'origine d'une maladie génétique.

1998 · F Coin, JC Marinoni, et al. · médecine/sciences

Contribution a l'etude du facteur de transcription - reparation de l'adn tfiih clonage et caracterisation fonctionnelle

1998 · Jean‐Christophe Marinoni

Radiation hybrids for the proximal long arm of the X chromosome and their use in the derivation of an ordered set of cosmid markers from a defined subregion in proximal Xq13.1

1994 · Dan Röhme, Thomas Sidén, et al. · Somatic Cell and Molecular Genetics

Works count: 10

Citation count: 686

H-index: 7

I10-index: 7