1. 11p15 ICR1 Partial Deletions Associated with IGF2/H19 DMR Hypomethylation and Silver–Russell Syndrome. Issue 1 (26th October 2016) Authors: Abi Habib, Walid; Brioude, Frederic; Azzi, Salah; Salem, Jennifer; Das Neves, Cristina; Personnier, Claire; Chantot‐Bastaraud, Sandra; Keren, Boris; Le Bouc, Yves; Harbison, Madeleine D.; Netchine, Irene Journal: Human mutation Issue: Volume 38:Issue 1(2017) Page Start: 105 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients. Issue 2 (11th November 2022) Authors: Jacquin, Clémence; Landais, Emilie; Poirsier, Céline; Afenjar, Alexandra; Akhavi, Ahmad; Bednarek, Nathalie; Bénech, Caroline; Bonnard, Adeline; Bosquet, Damien; Burglen, Lydie; Callier, Patrick; Chantot‐Bastaraud, Sandra; Coubes, Christine; Coutton, Charles; Delobel, Bruno; Descharmes, Margaux; ... Journal: American journal of medical genetics Issue: Volume 191:Issue 2(2023) Page Start: 445 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Brief Report: Involvement of TNFRSF11A Molecular Defects in Autoinflammatory Disorders. Issue 9 (September 2014) Authors: Jéru, Isabelle; Cochet, Emmanuelle; Duquesnoy, Philippe; Hentgen, Véronique; Copin, Bruno; Mitjavila‐Garcia, Maria Teresa; Sheykholeslami, Shayan; Le Borgne, Gaëlle; Dastot‐Le Moal, Florence; Malan, Valérie; Karabina, Sonia; Mahevas, Mathieu; Chantot‐Bastaraud, Sandra; Lecron, Jean‐Claude; Faivre... Journal: Arthritis & rheumatology Issue: Volume 66:Issue 9(2014) Page Start: 2621 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Clinical and molecular cytogenetic characterization of four unrelated patients carrying 2p14 microdeletions. Issue 8 (9th June 2017) Authors: Mathieu, Marie‐Laure; Demily, Caroline; Chantot‐Bastaraud, Sandra; Afenjar, Alexandra; Mignot, Cyril; Andrieux, Joris; Gerard, Marion; Catala‐Mora, Jaume; Jouk, Pierre Simon; Labalme, Audrey; Edery, Patrick; Sanlaville, Damien; Rossi, Massimiliano Journal: American journal of medical genetics Issue: Volume 173:Issue 8(2017) Page Start: 2268 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. How chromosomal deletions can unmask recessive mutations? Deletions in 10q11.2 associated with CHAT or SLC18A3 mutations lead to congenital myasthenic syndrome. Issue 1 (12th November 2017) Authors: Schwartz, Mathias; Sternberg, Damien; Whalen, Sandra; Afenjar, Alexandra; Isapof, Arnaud; Chabrol, Brigitte; Portnoï, Marie‐France; Heide, Solveig; Keren, Boris; Chantot‐Bastaraud, Sandra; Siffroi, Jean‐Pierre Journal: American journal of medical genetics Issue: Volume 176:Issue 1(2018) Page Start: 151 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Involvement of interstitial telomeric sequences in two new cases of mosaicism for autosomal structural rearrangements. (26th November 2014) Authors: Lévy, Jonathan; Receveur, Aline; Jedraszak, Guillaume; Chantot‐Bastaraud, Sandra; Renaldo, Florence; Gondry, Jean; Andrieux, Joris; Copin, Henri; Siffroi, Jean‐Pierre; Portnoï, Marie‐France Journal: American journal of medical genetics Issue: Volume 167:Number 2(2015:Feb.) Page Start: 428 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. 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) ↗
8. New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix–Saguenay. Issue 6 (14th November 2015) Authors: Pilliod, Julie; Moutton, Sébastien; Lavie, Julie; Maurat, Elise; Hubert, Christophe; Bellance, Nadège; Anheim, Mathieu; Forlani, Sylvie; Mochel, Fanny; N'Guyen, Karine; Thauvin‐Robinet, Christel; Verny, Christophe; Milea, Dan; Lesca, Gaëtan; Koenig, Michel; Rodriguez, Diana; Houcinat, Nada; Van‐G... Journal: Annals of neurology Issue: Volume 78:Issue 6(2015:Dec.) Page Start: 871 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Recurrence of an early postzygotic rescue of an inherited unbalanced translocation resulting in mosaic segmental uniparental isodisomy of chromosome 11q in siblings. Issue 10 (27th May 2021) Authors: Blanluet, Maud; Chantot‐Bastaraud, Sandra; Chambon, Pascal; Cassinari, Kévin; Vera, Gabriella; Goldenberg, Alice; Keren, Boris; Le Meur, Nathalie; Hannequin, Didier; Mace, Bertrand; Siffroi, Jean‐Pierre; Frebourg, Thierry; Nicolas, Gaël; Joly‐Helas, Géraldine Journal: American journal of medical genetics Issue: Volume 185:Issue 10(2021) Page Start: 3057 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. 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) ↗