S
Sabine Sarnacki
Researcher at Necker-Enfants Malades Hospital
Publications - 214
Citations - 6682
Sabine Sarnacki is an academic researcher from Necker-Enfants Malades Hospital. The author has contributed to research in topics: Medicine & Transplantation. The author has an hindex of 38, co-authored 188 publications receiving 5599 citations. Previous affiliations of Sabine Sarnacki include French Institute of Health and Medical Research & Paris Descartes University.
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Journal ArticleDOI
Malformations, genetic abnormalities, and wilms tumor
S Dumoucel,Marion Gauthier-Villars,Dominique Stoppa-Lyonnet,P Parisot,Hervé Brisse,Pascale Philippe-Chomette,Sabine Sarnacki,Liliane Boccon-Gibod,Sylvie Rossignol,C Baumann,Isabelle Aerts,Franck Bourdeaut,François Doz,François Doz,Daniel Orbach,Hélène Pacquement,Jean Michon,Gudrun Schleiermacher +17 more
TL;DR: Clinical malformations, genetic abnormalities, and tumor predisposition syndromes in patients with WT are described and guidelines regarding indications for clinical and molecular genetic explorations are proposed.
Journal ArticleDOI
Research perspectives in the etiology of congenital anorectal malformations using data of the International Consortium on Anorectal Malformations: evidence for risk factors across different populations
Charlotte H. W. Wijers,Ivo de Blaauw,Carlo Marcelis,Rene M. H. Wijnen,Han G. Brunner,Paola Midrio,Piergiorgio Gamba,Maurizio Clementi,Ekkehart Jenetzky,Nadine Zwink,Heiko Reutter,Enrika Bartels,Sabine Grasshoff-Derr,Stefan Holland-Cunz,Stuart Hosie,Stefanie Märzheuser,Eberhard Schmiedeke,Célia Crétolle,Sabine Sarnacki,Marc A. Levitt,Marc A. Levitt,Nine V A M Knoers,Nel Roeleveld,Iris A.L.M. van Rooij +23 more
TL;DR: First results show that both genetic and environmental factors may contribute to the multifactorial etiology of ARM, ultimately resulting in better genetic counseling, improved therapies, and primary prevention.
Journal ArticleDOI
A Hot-spot of In-frame Duplications Activates the Oncoprotein AKT1 in Juvenile Granulosa Cell Tumors
Laurianne Bessière,Anne-Laure Todeschini,Aurélie Auguste,Sabine Sarnacki,Sabine Sarnacki,Delphine Flatters,Bérangère Legois,Charles Sultan,Nicolas Kalfa,Louise Galmiche,Louise Galmiche,Reiner A. Veitia +11 more
TL;DR: This study incriminates somatic mutations of AKT1 as a major event in the pathogenesis of JGCTs, and opens new perspectives for targeted therapies for these tumors, which are currently treated with standard non-specific chemotherapy protocols.
Journal ArticleDOI
Fetal intestinal obstruction induces alteration of enteric nervous system development in human intestinal atresia.
Naziha Khen,Francis Jaubert,Frédérique Sauvat,Laurent Fourcade,Dominique Jan,Jelena Martinovic,Michel Vekemans,Paul Landais,Nicole Brousse,M Leborgne,Claire Nihoul-Fékété,Nadine Cerf-Bensussan,Sabine Sarnacki +12 more
TL;DR: The results indicate that intestinal atresia impairs the development of the enteric nervous system and provide an anatomical substrate for the motility disorders observed after surgical repair and suggest that stimulation of peristalsis might be used to accelerate recovery.
Journal ArticleDOI
WNT/β-catenin pathway activation in Wilms tumors: A unifying mechanism with multiple entries?
Marie Corbin,Aurélien de Reyniès,David S. Rickman,Dominique Berrebi,Liliane Boccon-Gibod,Sarah Cohen-Gogo,Sarah Cohen-Gogo,Monique Fabre,Francis Jaubert,Marine Faussillon,Funda Yilmaz,Sabine Sarnacki,Judith Landman-Parker,Catherine Patte,Gudrun Schleiermacher,Corinne Antignac,Corinne Antignac,Cécile Jeanpierre,Cécile Jeanpierre +18 more
TL;DR: Comparing the state of the WNT pathway in tumors without WT1/β‐catenin alterations and fetal kidneys provides evidence that suggests that these tumors have a heightened level of pathway activation.