1. N1303K (c.3909C>G) Mutation and Splicing: Implication of Its c.[744-33GATT(6); 869+11C>T] Complex Allele in CFTR Exon 7 Aberrant Splicing. (17th May 2015) Authors: Farhat, Raëd; Puissesseau, Géraldine; El-Seedy, Ayman; Pasquet, Marie-Claude; Adolphe, Catherine; Corbani, Sandra; Megarbané, André; Kitzis, Alain; Ladeveze, Véronique Other Names: Xiong Wei Academic Editor. Journal: BioMed research international Issue: Volume 2015(2015) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations. Issue 11 (28th September 2012) Authors: Legendre, Marine; Gonzales, Marie; Goudefroye, Géraldine; Bilan, Frédéric; Parisot, Pauline; Perez, Marie-José; Bonnière, Maryse; Bessières, Bettina; Martinovic, Jelena; Delezoide, Anne-Lise; Jossic, Frédérique; Fallet-Bianco, Catherine; Bucourt, Martine; Tantau, Julia; Loget, Philippe; Loeuillet... Journal: Journal of medical genetics Issue: Volume 49:Issue 11(2012) Page Start: 698 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Refining the regulatory region upstream of SOX9 associated with 46, XX testicular disorders of Sex Development (DSD). (21st April 2015) Authors: Hyon, Capucine; Chantot‐Bastaraud, Sandra; Harbuz, Radu; Bhouri, Rakia; Perrot, Nicolas; Peycelon, Matthieu; Sibony, Mathilde; Rojo, Sandra; Piguel, Xavier; Bilan, Frederic; Gilbert‐Dussardier, Brigitte; Kitzis, Alain; McElreavey, Ken; Siffroi, Jean‐Pierre; Bashamboo, Anu Journal: American journal of medical genetics Issue: Volume 167:Number 8(2015:Aug.) Page Start: 1851 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Osteogenesis imperfecta, tricho‐dento‐osseous syndrome and intellectual disability: A familial case with 17q21.33‐q22 (COL1A1 and DLX3) deletion and 7q32.3‐q33 duplication resulting from a reciprocal interchromosomal insertion. Issue 10 (15th August 2013) Authors: Harbuz, Radu; Bilan, Frédéric; Couet, Dominique; Charraud, Valérie; Kitzis, Alain; Gilbert‐Dussardier, Brigitte Journal: American journal of medical genetics Issue: Volume 161:Issue 10(2013:Oct.) Page Start: 2504 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature123. Issue 4 (26th March 2013) Authors: Béna, Frédérique; Bruno, Damien L.; Eriksson, Mats; van Ravenswaaij‐Arts, Conny; Stark, Zornitza; Dijkhuizen, Trijnie; Gerkes, Erica; Gimelli, Stefania; Ganesamoorthy, Devika; Thuresson, Ann Charlotte; Labalme, Audrey; Till, Marianne; Bilan, Frédéric; Pasquier, Laurent; Kitzis, Alain; Dubourgm, C... Journal: American journal of medical genetics Issue: Volume 162:Issue 4(2013) Page Start: 388 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. A deletion causing NF2 exon 9 skipping is associated with familial autosomal dominant intramedullary ependymoma. Issue 2 (18th December 2013) Authors: Zemmoura, Ilyess; Vourc'h, Patrick; Paubel, Agathe; Parfait, Béatrice; Cohen, Joëlle; Bilan, Frédéric; Kitzis, Alain; Rousselot, Cécilia; Parker, Fabrice; François, Patrick; Andres, Christian R. Journal: Neuro-oncology Issue: Volume 16:Issue 2(2014:Feb.) Page Start: 250 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. CFTR‐France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants. Issue 10 (28th June 2017) Authors: Claustres, Mireille; Thèze, Corinne; des Georges, Marie; Baux, David; Girodon, Emmanuelle; Bienvenu, Thierry; Audrezet, Marie‐Pierre; Dugueperoux, Ingrid; Férec, Claude; Lalau, Guy; Pagin, Adrien; Kitzis, Alain; Thoreau, Vincent; Gaston, Véronique; Bieth, Eric; Malinge, Marie‐Claire; Reboul, Mari... Journal: Human mutation Issue: Volume 38:Issue 10(2017) Page Start: 1297 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Effects of BDNF polymorphism and physical activity on episodic memory in the elderly: a cross sectional study. Issue 1 (December 2015) Authors: Canivet, Anne; Albinet, Cédric; André, Nathalie; Pylouster, Jean; Rodríguez-Ballesteros, Montserrat; Kitzis, Alain; Audiffren, Michel Journal: European review of aging and physical activity Issue: Volume 12:Issue 1(2015) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗