Search

Author/Creator Superti-Furga, Andrea

11. Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia. Issue 6 (17th March 2011)

Authors:
Allali, Slimane; Le Goff, Carine; Pressac–Diebold, Isabelle; Pfennig, Gwendoline; Mahaut, Clémentine; Dagoneau, Nathalie; Alanay, Yasemin; Brady, Angela F; Crow, Yanick J; Devriendt, Koen; Drouin-Garraud, Valérie; Flori, Elisabeth; Geneviève, David; Hennekam, Raoul C; Hurst, Jane; Krakow, Deborah...
Journal:
Journal of medical genetics
Issue:
Volume 48:Issue 6(2011)
Page Start:
417
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

12. Natural history of KBG syndrome in a large European cohort. Issue 24 (21st July 2022)

Authors:
Loberti, Lorenzo; Bruno, Lucia Pia; Granata, Stefania; Doddato, Gabriella; Resciniti, Sara; Fava, Francesca; Carullo, Michele; Rahikkala, Elisa; Jouret, Guillaume; Menke, Leonie A; Lederer, Damien; Vrielynck, Pascal; Ryba, Lukáš; Brunetti-Pierri, Nicola; Lasa-Aranzasti, Amaia; Cueto-González, Ann...
Journal:
Human molecular genetics
Issue:
Volume 31:Issue 24(2022)
Page Start:
4131
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

13. O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum. Issue 7 (28th July 2021)

Authors:
Velmans, Clara; O'Donnell-Luria, Anne H; Argilli, Emanuela; Tran Mau-them, Frederic; Vitobello, Antonio; Chan, Marcus CY; Fung, Jasmine Lee-Fong; Rech, Megan; Abicht, Angela; Aubert Mucca, Marion; Carmichael, Jason; Chassaing, Nicolas; Clark, Robin; Coubes, Christine; Denommé-Pichon, Anne-Sophie;...
Journal:
Journal of medical genetics
Issue:
Volume 59:Issue 7(2022)
Page Start:
697
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

14. Osteogenic transdifferentiation as ideal in vivo model for inherited hypomyelination with spondylometaphyseal dysplasia (H-SMD). (June 2017)

Authors:
Cayami, Ferdy; Miyake, Noriko; Micha, Dimitra; Crawford, Joanna; Conant, Alex; Kingsbury, Zoya; Bley, Annette; Hahn, Andreas; Sival, Deborah; Kimura-Ohba, Shihoko; Superti-Furga, Andrea; Gripp, Karen W.; Bulas, Dorothy; Taft, Ryan J.; Ozono, Keiichi; Matsumoto, Naomichi; Neubauer, Bernd A.; Simon...
Journal:
European journal of paediatric neurology
Issue:
Volume 21(2017)Supplement 1
Page Start:
e20
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

15. Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation. Issue 8 (1st August 1999)

Authors:
Superti-Furga, Andrea; Neumann, Luitgard; Riebel, Thomas; Eich, Georg; Steinmann, Beat; Spranger, Jürgen; Kunze, Jürgen
Journal:
Journal of medical genetics
Issue:
Volume 36:Issue 8(1999)
Page Start:
621
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

17. The Shwachman–Bodian–Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type. Issue 4 (30th March 2007)

Authors:
Nishimura, Gen; Nakashima, Eiji; Hirose, Yuichiro; Cole, Trevor; Cox, Phillip; Cohn, Daniel H; Rimoin, David L; Lachman, Ralph S; Miyamoto, Yoshinari; Kerr, Bronwyn; Unger, Sheila; Ohashi, Hirofumi; Superti-Furga, Andrea; Ikegawa, Shiro
Journal:
Journal of medical genetics
Issue:
Volume 44:Issue 4(2007)
Page Start:
e73
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗