1. Association between Kniest dysplasia and chondrosarcoma in a child. (8th September 2015) Authors: Hochart, Audrey; Dieux, Anne; Coucke, Paul; Fron, Damien; Fayoux, Pierre; Labalette, Pierre; Boutry, Nathalie; Escande, Fabienne; Aubert, Sébastien; Renaud, Florence; Rocourt, Nathalie; Vinchon, Matthieu; Leblond, Pierre Journal: American journal of medical genetics Issue: Volume 167:Number 12(2015:Dec.) Page Start: 3204 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. WNT10B variants in split hand/foot malformation: Report of three novel families and review of the literature. Issue 7 (3rd May 2019) Authors: Brunelle, Perrine; Jourdain, Anne‐Sophie; Escande, Fabienne; Martinovic, Jelena; Dupont, Juliette; Busa, Tiffany; Moncla, Anne; Frénois, Frédéric; Stichelbout, Morgane; Manouvrier‐Hanu, Sylvie; Petit, Florence Journal: American journal of medical genetics Issue: Volume 179:Issue 7(2019) Page Start: 1351 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. METB-10. EVALUATION OF NON-SUPERVISED MATRIX-ASSISTED LASER DESORPTION / IONIZATION MASS SPECTROMETRY IMAGING (MALDI) MASS SPECTROMETRY IMAGING (MSI) COMBINED WITH MICROPROTEOMICS FOR DETERMINATION OF GLIOBLASTOMA HETEROGENEITY. Issue 11 (6th November 2017) Authors: Le Rhun, Emilie; Duhamel, Marie; Drelich, Lauranne; Zairi, Fahed; Reyns, Nicolas; Wisztoski, Maxence; Maurage, Claude Alain; Escande, Fabienne; Salzet, Michel; Fournier, Isabelle Journal: Neuro-oncology Issue: Volume 19:Issue 11(2017)supplement 6 Page Start: vi130 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Identification of prognostic markers in diffuse midline gliomas H3K27M‐mutant. (14th August 2019) Authors: Dufour, Charlotte; Perbet, Romain; Leblond, Pierre; Vasseur, Romain; Stechly, Laurence; Pierache, Adeline; Reyns, Nicolas; Touzet, Gustavo; Le Rhun, Emilie; Vinchon, Matthieu; Maurage, Claude‐Alain; Escande, Fabienne; Renaud, Florence Journal: Brain pathology Issue: Volume 30:Number 1(2020) Page Start: 179 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8A. Issue 7 (6th April 2020) Authors: Boussion, Simon; Escande, Fabienne; Jourdain, Anne‐Sophie; Smol, Thomas; Brunelle, Perrine; Duhamel, Céline; Alembik, Yves; Attié‐Bitach, Tania; Baujat, Geneviève; Bazin, Anne; Bonnière, Maryse; Carassou, Philippe; Carles, Dominique; Devisme, Louise; Goizet, Cyril; Goldenberg, Alice; Grotto, Sara... Journal: Human mutation Issue: Volume 41:Issue 7(2020) Page Start: 1220 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Endoscopic ultrasound guided transbronchial fine needle aspiration: a French Department of Pathology's 4-year experience. Issue 12 (30th September 2011) Authors: Delattre, Claire; Fournier, Clément; Bouchindhomme, Brigitte; Renaud, Florence; Escande, Fabienne; Ramon, Philippe; Copin, Marie-Christine Journal: Journal of clinical pathology Issue: Volume 64:Issue 12(2011) Page Start: 1117 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Independent prognostic value of ultra-sensitive quantification of tumor pre-treatment T790M subclones in EGFR mutated non-small cell lung cancer (NSCLC) treated by first/second generation TKI, depends on variant allele frequency (VAF): Results of the French cooperative thoracic intergroup (IFCT) biomarkers France project. (February 2020) Authors: Beau-Faller, Michèle; Pencreach, Erwan; Leduc, Charlotte; Blons, Hélène; Merlio, Jean-Philippe; Bringuier, Pierre-Paul; de Fraipont, Florence; Escande, Fabienne; Lemoine, Antoinette; Ouafik, L'Houcine; Denis, Marc; Hofman, Paul; Lacave, Roger; Melaabi, Samia; Langlais, Alexandra; Missy, Pascale; ... Journal: Lung cancer Issue: Volume 140(2020) Page Start: 19 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. CDKN2A homozygous deletion is a strong adverse prognosis factor in diffuse malignant IDH-mutant gliomas. Issue 12 (12th July 2019) Authors: Appay, Romain; Dehais, Caroline; Maurage, Claude-Alain; Alentorn, Agusti; Carpentier, Catherine; Colin, Carole; Ducray, François; Escande, Fabienne; Idbaih, Ahmed; Kamoun, Aurélie; Marie, Yannick; Mokhtari, Karima; Tabouret, Emeline; Trabelsi, Nesrine; Uro-Coste, Emmanuelle; Delattre, Jean-Yves; ... Journal: Neuro-oncology Issue: Volume 21:Issue 12(2019) Page Start: 1519 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. EGFR tyrosine kinase inhibitors versus chemotherapy in EGFR wild-type pre-treated advanced nonsmall cell lung cancer in daily practice. Issue 2 (10th August 2017) Authors: Tomasini, Pascale; Brosseau, Solenn; Mazières, Julien; Merlio, Jean-Philippe; Beau-Faller, Michèle; Mosser, Jean; Wislez, Marie; Ouafik, L'Houcine; Besse, Benjamin; Rouquette, Isabelle; Debieuvre, Didier; Escande, Fabienne; Westeel, Virginie; Audigier-Valette, Clarisse; Missy, Pascale; Langlais, ... Journal: European respiratory journal Issue: Volume 50:Issue 2(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Comprehensive study of nine novel cases of TFEB‐amplified renal cell carcinoma: an aggressive tumour with frequent PDL1 expression. Issue 2 (13th June 2022) Authors: Kammerer‐Jacquet, Solène‐Florence; Gandon, Camille; Dugay, Frederic; Laguerre, Brigitte; Peyronnet, Benoit; Mathieu, Romain; Verhoest, Grégory; Bensalah, Karim; Leroy, Xavier; Aubert, Sebastien; Vermaut, Catherine; Escande, Fabienne; Verkarre, Virginie; Compérat, Eva; Ambrosetti, Damien; Pedeutou... Journal: Histopathology Issue: Volume 81:Issue 2(2022) Page Start: 228 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗