21. MED12-related XLID disorders are dose-dependent of immediate early genes (IEGs) expression. (24th March 2017) Authors: Donnio, Lise-Marie; Bidon, Baptiste; Hashimoto, Satoru; May, Melanie; Epanchintsev, Alexey; Ryan, Colm; Allen, William; Hackett, Anna; Gecz, Jozef; Skinner, Cindy; Stevenson, Roger E.; de Brouwer, Arjan P.M.; Coutton, Charles; Francannet, Christine; Jouk, Pierre-Simon; Schwartz, Charles E.; Egly,... Journal: Human molecular genetics Issue: Volume 26:Number 11(2017:Jun. 01) Page Start: 2062 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
22. Microdeletion del(22)(q12.1) excluding the MN1 gene in a patient with craniofacial anomalies. Issue 2 (6th November 2015) Authors: Bosson, Caroline; Devillard, Françoise; Satre, Véronique; Dieterich, Klaus; Ray, Pierre F.; Morand, Béatrice; Dubois‐Teklali, Fanny; Vieville, Gaëlle; Andrieux, Joris; Brouillet, Sophie; Amblard, Florence; Jouk, Pierre‐Simon; Coutton, Charles Journal: American journal of medical genetics Issue: Volume 170:Issue 2(2016) Page Start: 498 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
23. Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication–deletion: Genotype–phenotype correlation for anomalies of the corpus callosum. Issue 3 (15th December 2021) Authors: Vibert, Roseline; Mignot, Cyril; Keren, Boris; Chantot‐Bastaraud, Sandra; Portnoï, Marie‐France; Nouguès, Marie‐Christine; Moutard, Marie‐Laure; Faudet, Anne; Whalen, Sandra; Haye, Damien; Garel, Catherine; Chatron, Nicolas; Rossi, Massimiliano; Vincent‐Delorme, Catherine; Boute, Odile; Delobel, ... Journal: Clinical genetics Issue: Volume 101:Issue 3(2022) Page Start: 307 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
24. PATL2 is a key actor of oocyte maturation whose invalidation causes infertility in women and mice. Issue 5 (16th April 2018) Authors: Christou‐Kent, Marie; Kherraf, Zine‐Eddine; Amiri‐Yekta, Amir; Le Blévec, Emilie; Karaouzène, Thomas; Conne, Béatrice; Escoffier, Jessica; Assou, Said; Guttin, Audrey; Lambert, Emeline; Martinez, Guillaume; Boguenet, Magalie; Fourati Ben Mustapha, Selima; Cedrin Durnerin, Isabelle; Halouani, Lazh... Journal: EMBO molecular medicine Issue: Volume 10:Issue 5(2018) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
25. PBX1 haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humans. Issue 7 (7th March 2017) Authors: Le Tanno, Pauline; Breton, Julie; Bidart, Marie; Satre, Véronique; Harbuz, Radu; Ray, Pierre F; Bosson, Caroline; Dieterich, Klaus; Jaillard, Sylvie; Odent, Sylvie; Poke, Gemma; Beddow, Rachel; Digilio, Maria Christina; Novelli, Antonio; Bernardini, Laura; Pisanti, Maria Antonietta; Mackenroth, L... Journal: Journal of medical genetics Issue: Volume 54:Issue 7(2017) Page Start: 502 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
26. Prokineticin 1 is a new biomarker of human oocyte competence: expression and hormonal regulation throughout late folliculogenesis. Issue 4 (5th July 2019) Authors: Alfaidy, Nadia; Baron, Chloé; Antoine, Yannick; Reynaud, Déborah; Traboulsi, Wael; Gueniffey, Aurore; Lamotte, Anna; Melloul, Eve; Dunand, Camille; Villaret, Laure; Bessonnat, Julien; Mauroy, Charlotte; Boueihl, Thomas; Coutton, Charles; Martinez, Guillaume; Hamamah, Samir; Hoffmann, Pascale; Hen... Editors: Flaws, Jodi Journal: Biology of reproduction Issue: Volume 101:Issue 4(2019) Page Start: 832 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
27. Rapid Proteomic Profiling by MALDI‐TOF Mass Spectrometry for Better Brain Tumor Classification. Issue 5 (9th July 2020) Authors: Petre, Graciane; Durand, Harmonie; Pelletier, Laurent; Poulenard, Margot; Nugue, Guillaume; Ray, Pierre F.; Rendu, John; Coutton, Charles; Berger, Francois; Bidart, Marie Journal: Proteomics Issue: Volume 14:Issue 5(2020) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
28. SPINK2 deficiency causes infertility by inducing sperm defects in heterozygotes and azoospermia in homozygotes. Issue 8 (29th May 2017) Authors: Kherraf, Zine‐Eddine; Christou‐Kent, Marie; Karaouzene, Thomas; Amiri‐Yekta, Amir; Martinez, Guillaume; Vargas, Alexandra S; Lambert, Emeline; Borel, Christelle; Dorphin, Béatrice; Aknin‐Seifer, Isabelle; Mitchell, Michael J; Metzler‐Guillemain, Catherine; Escoffier, Jessica; Nef, Serge; Grepilla... Journal: EMBO molecular medicine Issue: Volume 9:Issue 8(2017) Page Start: 1132 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
29. Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants: A multicenter retrospective case series. (11th December 2021) Authors: Lesieur‐Sebellin, Marion; Till, Marianne; Khau Van Kien, Philippe; Herve, Bérénice; Bourgon, Nicolas; Dupont, Céline; Tabet, Anne‐Claude; Barrois, Mathilde; Coussement, Aurélie; Loeuillet, Laurence; Mousty, Eve; Ea, Vuthy; El Assal, Amal; Mary, Laura; Jaillard, Sylvie; Beneteau, Claire; Le Vailla... Journal: Prenatal diagnosis Issue: Volume 42:Number 1(2022) Page Start: 118 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
30. The sodium/proton exchanger SLC9C1 (sNHE) is essential for human sperm motility and fertility. Issue 5 (25th January 2021) Authors: Cavarocchi, Emma; Whitfield, Marjorie; Chargui, Ahmed; Stouvenel, Laurence; Lorès, Patrick; Coutton, Charles; Arnoult, Christophe; Santulli, Pietro; Patrat, Catherine; Thierry‐Mieg, Nicolas; Ray, Pierre F.; Dulioust, Emmanuel; Touré, Aminata Journal: Clinical genetics Issue: Volume 99:Issue 5(2021) Page Start: 684 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗