1. A Large French Case-Control Study Emphasizes the Role of Rare Mc1R Variants in Melanoma Risk. (10th April 2014) Authors: Hu, Hui-Han; Benfodda, Mériem; Dumaz, Nicolas; Gazal, Steven; Descamps, Vincent; Bourillon, Agnès; Basset-Seguin, Nicole; Riffault, Angélique; Ezzedine, Khaled; Bagot, Martine; Bensussan, Armand; Saiag, Philippe; Grandchamp, Bernard; Soufir, Nadem Other Names: Molès Jean-Pierre Academic Editor. Journal: BioMed research international Issue: Volume 2014(2014) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Comprehensive functional annotation of 18 missense mutations found in suspected hemochromatosis type 4 patients. (8th April 2014) Authors: Callebaut, Isabelle; Joubrel, Rozenn; Pissard, Serge; Kannengiesser, Caroline; Gérolami, Victoria; Ged, Cécile; Cadet, Estelle; Cartault, François; Ka, Chandran; Gourlaouen, Isabelle; Gourhant, Lénaick; Oudin, Claire; Goossens, Michel; Grandchamp, Bernard; De Verneuil, Hubert; Rochette, Jacques; ... Journal: Human molecular genetics Issue: Volume 23:Number 17(2014:Sep. 01) Page Start: 4479 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Functional and Clinical Impact of Novel Tmprss6 Variants in Iron‐Refractory Iron‐Deficiency Anemia Patients and Genotype–Phenotype Studies. Issue 11 (10th September 2014) Authors: De Falco, Luigia; Silvestri, Laura; Kannengiesser, Caroline; Morán, Erica; Oudin, Claire; Rausa, Marco; Bruno, Mariasole; Aranda, Jessica; Argiles, Bienvenida; Yenicesu, Idil; Falcon‐Rodriguez, Maria; Yilmaz‐Keskin, Ebru; Kocak, Ulker; Beaumont, Carole; Camaschella, Clara; Iolascon, Achille; Gran... Journal: Human mutation Issue: Volume 35:Issue 11(2014:Nov.) Page Start: 1321 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Genes involved in the WNT and vesicular trafficking pathways are associated with melanoma predisposition. Issue 9 (24th October 2014) Authors: Ibarrola‐Villava, Maider; Kumar, Rajiv; Nagore, Eduardo; Benfodda, Meriem; Guedj, Mickael; Gazal, Steven; Hu, Hui‐Han; Guan, Jian; Rachkonda, P. Sivaramakishna; Descamps, Vincent; Basset‐Seguin, Nicole; Bensussan, Armand; Bagot, Martine; Saiag, Philippe; Schadendorf, Dirk; Martin‐Gonzalez, Manuel... Journal: International journal of cancer Issue: Volume 136:Issue 9(2015:May 01) Page Start: 2109 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Genetic variation at KIT locus may predispose to melanoma. (23rd November 2012) Authors: Bourillon, Agnes; Hu, Hui‐Han; Hetet, Gilles; Lacapere, Jean‐Jacques; André, Jocelyne; Descamps, Vincent; Basset‐Seguin, Nicole; Ogbah, Zighereda; Puig, Susana; Saiag, Philippe; Bagot, Martine; Bensussan, Armand; Grandchamp, Bernard; Dumaz, Nicolas; Soufir, Nadem Journal: Pigment cell & melanoma research Issue: Volume 26:Number 1(2013:Jan.) Page Start: 88 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Identification of four novel PMM2mutations in congenital disorders of glycosylation (CDG) Ia French patients. Issue 8 (1st August 2000) Authors: Vuillaumier-Barrot, Sandrine; Hetet, Gilles; Barnier, Anne; Dupré, Thierry; Cuer, Maryvonne; de Lonlay, Pascale; Cormier-Daire, Valérie; Durand, Geneviève; Grandchamp, Bernard; Seta, Nathalie Journal: Journal of medical genetics Issue: Volume 37:Issue 8(2000) Page Start: 579 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. PARKIN Inactivation Links Parkinson's Disease to Melanoma. (17th December 2015) Authors: Hu, Hui-Han; Kannengiesser, Caroline; Lesage, Suzanne; André, Jocelyne; Mourah, Samia; Michel, Laurence; Descamps, Vincent; Basset-Seguin, Nicole; Bagot, Martine; Bensussan, Armand; Lebbé, Céleste; Deschamps, Lydia; Saiag, Philippe; Leccia, Marie-Thérèse; Bressac-de-Paillerets, Brigitte; Tsalamla... Journal: Journal of the National Cancer Institute Issue: Volume 108:Number 3(2016:Feb.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Prevalence and characteristics of TERT and TERC mutations in suspected genetic pulmonary fibrosis. Issue 6 (11th November 2016) Authors: Borie, Raphael; Tabèze, Laure; Thabut, Gabriel; Nunes, Hilario; Cottin, Vincent; Marchand-Adam, Sylvain; Prevot, Grégoire; Tazi, Abdellatif; Cadranel, Jacques; Mal, Herve; Wemeau-Stervinou, Lidwine; Bergeron Lafaurie, Anne; Israel-Biet, Dominique; Picard, Clement; Reynaud Gaubert, Martine; Jounea... Journal: European respiratory journal Issue: Volume 48:Issue 6(2016) Page Start: 1721 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Promoter hypermethylation of HS3ST2, SEPTIN9 and SLIT2 combined with FGFR3 mutations as a sensitive/specific urinary assay for diagnosis and surveillance in patients with low or high-risk non-muscle-invasive bladder cancer. Issue 1 (December 2016) Authors: Roperch, Jean-Pierre; Grandchamp, Bernard; Desgrandchamps, François; Mongiat-Artus, Pierre; Ravery, Vincent; Ouzaid, Idir; Roupret, Morgan; Phe, Véronique; Ciofu, Calin; Tubach, Florence; Cussenot, Olivier; Incitti, Roberto Journal: BMC cancer Issue: Volume 16:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Truncating mutations of TP53AIP1 gene predispose to cutaneous melanoma. Issue 6 (21st February 2018) Authors: Benfodda, Meriem; Gazal, Steven; Descamps, Vincent; Basset‐Seguin, Nicole; Deschamps, Lydia; Thomas, Luc; Lebbe, Celeste; Saiag, Philippe; Zanetti, Roberto; Sacchetto, Lidia; Chiorino, Giovanna; Scatolini, Maria; Grandchamp, Bernard; Bensussan, Armand; Soufir, Nadem Journal: Genes, chromosomes & cancer Issue: Volume 57:Issue 6(2018) Page Start: 294 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗