1. Assembly defects induce oxidative stress in inherited mitochondrial complex I deficiency. (August 2015) Authors: Leman, Géraldine; Gueguen, Naïg; Desquiret-Dumas, Valérie; Kane, Mariame Selma; Wettervald, Céline; Chupin, Stéphanie; Chevrollier, Arnaud; Lebre, Anne-Sophie; Bonnefont, Jean-Paul; Barth, Magalie; Amati-Bonneau, Patrizia; Verny, Christophe; Henrion, Daniel; Bonneau, Dominique; Reynier, Pascal; P... Journal: International journal of biochemistry & cell biology Issue: Volume 65(2015:Aug.) Page Start: 91 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Case report: an unexpected link between partial deletion of the SHANK3 gene and Heller's dementia infantilis, a rare subtype of autism spectrum disorder. Issue 1 (December 2015) Authors: Philippe, Anne; Craus, Yann; Rio, Marlène; Bahi-Buisson, Nadia; Boddaert, Nathalie; Malan, Valérie; Bonnefont, Jean-Paul; Robel, Laurence Journal: BMC psychiatry Issue: Volume 15:Issue 1(2015) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndrome. Issue 3 (1st March 1999) Authors: Villard, Laurent; Bonino, Marie-Claude; Abidi, Fatima; Ragusa, Angela; Belougne, Jérôme; Lossi, Anne-Marie; Seaver, Laurie; Bonnefont, Jean-Paul; Romano, Corrado; Fichera, Marco; Lacombe, Didier; Hanauer, André; Philip, Nicole; Schwartz, Charles; Fontés, Michel Journal: Journal of medical genetics Issue: Volume 36:Issue 3(1999) Page Start: 183 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta. Issue 4 (22nd January 2018) Authors: Doyard, Mathilde; Bacrot, Séverine; Huber, Céline; Di Rocco, Maja; Goldenberg, Alice; Aglan, Mona S; Brunelle, Perrine; Temtamy, Samia; Michot, Caroline; Otaify, Ghada A; Haudry, Coralie; Castanet, Mireille; Leroux, Julien; Bonnefont, Jean-Paul; Munnich, Arnold; Baujat, Geneviève; Lapunzina, Pabl... Journal: Journal of medical genetics Issue: Volume 55:Issue 4(2018) Page Start: 278 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features. Issue 6 (4th April 2018) Authors: Miguet, Marguerite; Faivre, Laurence; Amiel, Jeanne; Nizon, Mathilde; Touraine, Renaud; Prieur, Fabienne; Pasquier, Laurent; Lefebvre, Mathilde; Thevenon, Julien; Dubourg, Christèle; Julia, Sophie; Sarret, Catherine; Remerand, Ganaëlle; Francannet, Christine; Laffargue, Fanny; Boespflug-Tanguy, O... Journal: Journal of medical genetics Issue: Volume 55:Issue 6(2018) Page Start: 359 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome. Issue 3 (12th January 2013) Authors: Gordon, Christopher T; Vuillot, Alice; Marlin, Sandrine; Gerkes, Erica; Henderson, Alex; AlKindy, Adila; Holder-Espinasse, Muriel; Park, Sarah S; Omarjee, Asma; Sanchis-Borja, Mateo; Bdira, Eya Ben; Oufadem, Myriam; Sikkema-Raddatz, Birgit; Stewart, Alison; Palmer, Rodger; McGowan, Ruth; Petit, F... Journal: Journal of medical genetics Issue: Volume 50:Issue 3(2013) Page Start: 174 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Improving post-natal detection of mitochondrial DNA mutations. (2nd October 2020) Authors: Barcia, Giulia; Assouline, Zahra; Magen, Maryse; Pennisi, Alessandra; Rötig, Agnès; Munnich, Arnold; Bonnefont, Jean-Paul; Steffann, Julie Journal: Expert review of molecular diagnostics Issue: Volume 20:Number 10(2020) Page Start: 1003 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. MECP2 mutation in non-fatal, non-progressive encephalopathy in a male. Issue 3 (1st March 2001) Authors: Imessaoudene, Belaïd; Bonnefont, Jean-Paul; Royer, Ghislaine; Cormier-Daire, Valérie; Lyonnet, Stanislas; Lyon, Gilles; Munnich, Arnold; Amiel, Jeanne Journal: Journal of medical genetics Issue: Volume 38:Issue 3(2001) Page Start: 171 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. No correlation between mtDNA amount and methylation levels at the CpG island of POLG exon 2 in wild-type and mutant human differentiated cells. Issue 5 (9th January 2017) Authors: Steffann, Julie; Pouliet, Aurore; Adjal, Houda; Bole, Christine; Fourrage, Cécile; Martinovic, Jelena; Rolland-Galmiche, Louise; Rotig, Agnes; Tores, Frédéric; Munnich, Arnold; Bonnefont, Jean-Paul Journal: Journal of medical genetics Issue: Volume 54:Issue 5(2017) Page Start: 324 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Pattern dystrophy in a female carrier of RP2 mutation. (1st October 2016) Authors: Misky, Dina; Guillaumie, Tremeur; Baudoin, Corinne; Bocquet, Béatrice; Beltran, Magali; Kaplan, Josseline; Dhaenens, Claire-Marie; Bonnefont, Jean-Paul; Meunier, Isabelle; Hamel, Christian P. Journal: Ophthalmic genetics Issue: Volume 37:Number 4(2016) Page Start: 453 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗