1. A novel COL1A1 variant in a family with clinical features of hypermobile Ehlers‐Danlos syndrome that proved to be a COL1‐related overlap disorder. Issue 9 (26th June 2021) Authors: Foy, Malika; De Mazancourt, Philippe; Métay, Corinne; Carlier, Robert; Allamand, Valérie; Gartioux, Corine; Gillas, Fabrice; Miri, Nawel; Jobic, Valérie; Mekki, Ahmed; Richard, Pascale; Michot, Caroline; Benistan, Karelle Journal: Clinical case reports Issue: Volume 9:Issue 9(2021) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A retrospective study on sleep‐disordered breathing in Morquio‐A syndrome. Issue 12 (18th November 2018) Authors: Facchina, Giulia; Amaddeo, Alessandro; Baujat, Geneviève; Breton, Sylvain; Michot, Caroline; Thierry, Briac; James, Syril; de Saint Denis, Timothé; Zerah, Michel; Khirani, Sonia; Cormier‐Daire, Valerie; Fauroux, Brigitte Journal: American journal of medical genetics Issue: Volume 176:Issue 12(2018) Page Start: 2595 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype–phenotype relationships and overlap with Costello syndrome. Issue 12 (17th August 2007) Authors: Nava, Caroline; Hanna, Nadine; Michot, Caroline; Pereira, Sabrina; Pouvreau, Nathalie; Niihori, Tetsuya; Aoki, Yoko; Matsubara, Yoichi; Arveiler, Benoit; Lacombe, Didier; Pasmant, Eric; Parfait, Béatrice; Baumann, Clarisse; Héron, Delphine; Sigaudy, Sabine; Toutain, Annick; Rio, Marlène; Goldenbe... Journal: Journal of medical genetics Issue: Volume 44:Issue 12(2007) Page Start: 763 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences. Issue 3 (9th December 2017) Authors: Heide, Solveig; Chantot-Bastaraud, Sandra; Keren, Boris; Harbison, Madeleine D; Azzi, Salah; Rossignol, Sylvie; Michot, Caroline; Lackmy-Port Lys, Marilyn; Demeer, Bénédicte; Heinrichs, Claudine; Newfield, Ron S; Sarda, Pierre; Van Maldergem, Lionel; Trifard, Véronique; Giabicani, Eloise; Siffroi... Journal: Journal of medical genetics Issue: Volume 55:Issue 3(2018) Page Start: 205 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Expanding the phenotype in Adams–Oliver syndrome correlating with the genotype. Issue 1 (25th October 2019) Authors: Dudoignon, Benjamin; Huber, Celine; Michot, Caroline; Di Rocco, Federico; Girard, Muriel; Lyonnet, Stanislas; Rio, Marlène; Rabia, Smail Hadj; Daire, Valérie Cormier; Baujat, Geneviève Journal: American journal of medical genetics Issue: Volume 182:Issue 1(2020) Page Start: 29 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia. (November 2018) Authors: Michot, Caroline; Goff, Carine; Blair, Edward; Blanchet, Patricia; Capri, Yline; Gilbert-Dussardier, Brigitte; Goldenberg, Alice; Henderson, Alex; Isidor, Bertrand; Kayserili, Hulya; Kinning, Esther; Merrer, Martine; Lyonnet, Stanislas; Odent, Sylvie; Simsek-Kiper, Pelin; Quelin, Chloé; Savariray... Journal: European journal of human genetics Issue: Volume 26:Number 11(2018) Page Start: 1611 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. 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) ↗
8. Gain‐of‐function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome. Issue 10 (14th June 2016) Authors: Lin, Angela E.; Michot, Caroline; Cormier‐Daire, Valerie; L'Ecuyer, Thomas J.; Matherne, G. Paul; Barnes, Barrett H.; Humberson, Jennifer B.; Edmondson, Andrew C.; Zackai, Elaine; O'Connor, Matthew J.; Kaplan, Julie D.; Ebeid, Makram R.; Krier, Joel; Krieg, Elizabeth; Ghoshhajra, Brian; Lindsay, ... Other Names: Hennekam Raoul C.M. guestEditor.; Biesecker Leslie G. guestEditor. Journal: American journal of medical genetics Issue: Volume 170:Issue 10(2016) Page Start: 2617 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Growth charts in Kabuki syndrome 1. Issue 3 (26th December 2019) Authors: Ruault, Valentin; Corsini, Carole; Duflos, Claire; Akouete, Sandrine; Georgescu, Véra; Abaji, Mario; Alembick, Yves; Alix, Eudeline; Amiel, Jeanne; Amouroux, Cyril; Barat‐Houari, Mouna; Baumann, Clarisse; Bonnard, Adeline; Boursier, Guilaine; Boute, Odile; Burglen, Lydie; Busa, Tiffany; Cordier, ... Journal: American journal of medical genetics Issue: Volume 182:Issue 3(2020) Page Start: 446 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Homozygous Loss‐of‐Function Mutations in CCDC134 Are Responsible for a Severe Form of Osteogenesis Imperfecta. (14th April 2020) Authors: Dubail, Johanne; Brunelle, Perrine; Baujat, Geneviève; Huber, Céline; Doyard, Mathilde; Michot, Caroline; Chavassieux, Pascale; Khairouni, Abdeslam; Topouchian, Vicken; Monnot, Sophie; Koumakis, Eugénie; Cormier‐Daire, Valérie Journal: Journal of bone and mineral research Issue: Volume 35:Number 8(2020) Page Start: 1470 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗