• Thumbnail for Andrea Superti-Furga
    Andrea Superti-Furga (born 1959 in Milan) is a Swiss-Italian pediatrician, geneticist and molecular biologist. He is the head of the Division of Genetic...
    24 KB (2,269 words) - 10:04, 15 November 2024
  • Thumbnail for Giulio Superti-Furga
    Giulio Superti-Furga (born 17 May 1962 in Milan) is an Italian molecular and systems biologist based in Vienna, Austria. He is the Scientific Director...
    46 KB (4,526 words) - 07:22, 24 July 2024
  • diagnoses may in fact have had Cousin syndrome. In 2008, the group of Andrea Superti-Furga showed that the condition was caused by biallelic inactivating variants...
    4 KB (475 words) - 05:58, 19 October 2024
  • Konermann [de], director of films and TV Series in Germany and Switzerland Andrea Superti-Furga, Professor of Pediatrics and Genetics at the University of Lausanne...
    4 KB (352 words) - 07:43, 26 October 2024
  • South African-born UK pediatric geneticist, studied cystic fibrosis Andrea Superti-Furga (born 1959), Swiss and Italian paediatrician and geneticist, studied...
    71 KB (7,873 words) - 14:30, 19 November 2024
  • Thumbnail for Pyrophosphate
    Goldfine I, Maddux B, Schauerte P, Kalhoff H, Sano K, Boisvert WA, Superti-Furga A, Terkeltaub R (Feb 2001). "PC-1 nucleoside triphosphate pyrophosphohydrolase...
    12 KB (1,169 words) - 15:24, 13 November 2024
  • 2003: Michael N. Hall and Bernhard Moser 2002: Bernard Thorens and Andrea Superti-Furga 2001: Isabel Roditi and Thierry Calandra 2000: Giuseppe Pantaleo...
    4 KB (412 words) - 17:44, 30 October 2024
  • Thumbnail for Syndactyly-nystagmus syndrome due to 2q31.1 microduplication
    2022-08-04. Cho, Tae-Joon; Kim, Ok-Hwa; Choi, In Ho; Nishimura, Gen; Superti-Furga, Andrea; Kim, Kang Suhp; Lee, Young-Ju; Park, Woong-Yang (September 2010)...
    5 KB (367 words) - 09:33, 17 December 2023
  • Thumbnail for EN1 (gene)
    and sternum. In 2021, a group of scientists and physicians around Andrea Superti-Furga in Lausanne and Stefan Mundlos in Berlin showed that biallelic loss-of-function...
    9 KB (1,168 words) - 00:49, 3 December 2023
  • ("Gut: The Inside Story of Our Body's Most Underrated Organ") Giulio Superti-Furga (2017), molecular biologist, head of CeMM, part of the Austrian Academy...
    10 KB (1,123 words) - 21:10, 5 July 2022
  • Thumbnail for Achondrogenesis type 1B
    ACG1B. Diastrophic dysplasia Achondrogenesis type 1A Unger, Sheila; Superti-Furga, Andrea (2023-03-16). "Achondrogenesis Type 1B". University of Washington...
    5 KB (456 words) - 22:48, 29 October 2024
  • Thumbnail for Atelosteogenesis type I
    Farrington-Rock, Claire; Firestein, Marc H.; Bicknell, Louise S.; Superti-Furga, Andrea; Bacino, Carlos A.; Cormier-Daire, Valerie; Le Merrer, Martine;...
    8 KB (687 words) - 00:40, 18 October 2024
  • Marta; Campos-Xavier, Belinda; Baldo, Francesco; Agostoni, Carlo; Superti-Furga, Andrea; Filocamo, Giovanni (March 2019). "Progressive pseudorheumatoid...
    5 KB (450 words) - 16:18, 3 December 2023
  • Thumbnail for Maria Manuel Mota
    Fitzgerald, Katherine A.; Rice, Charles M.; Vigário, Ana M.; Pichlmair, Andreas; Superti-Furga, Giulio; Kappe, Stefan H.; Coelho, Luis P. (January 2014). "Host-cell...
    16 KB (1,638 words) - 19:18, 18 November 2023
  • Thumbnail for HSPA9
    been shown to interact with FGF1 and P53. In 2015, a group around Andrea Superti-Furga showed that biallelic variants in the HSPA9 gene may result in a...
    11 KB (1,308 words) - 19:15, 12 May 2024
  • Thumbnail for Multiple epiphyseal dysplasia
    Gen; Ramsden, Simon C.; Elles, Rob; Bonafe, Luisa; Superti-Furga, Andrea; Unger, Sheila; Zankl, Andreas; Briggs, Michael D. (January 2012). "Pseudoachondroplasia...
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  • Stephen; Sangiorgi, Luca; Savarirayan, Ravi; Sillence, David; Superti-Furga, Andrea; Unger, Sheila; Warman, Matthew L. (2019-10-21). "Nosology and classification...
    27 KB (2,785 words) - 05:19, 10 October 2024
  • Thumbnail for Schneckenbecken dysplasia
    Gen; Shibata, Shunichi; Yanagishita, Masaki; Rimoin, David L.; Superti-Furga, Andrea; Nikkels, Peter G.; Ogawa, Minako; Katsuyama, Kayoko; Toyoda, Hidenao...
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  • ISSN 1476-4687. PMID 6700727. S2CID 4366379. Unger, Shelia; Scherer, Gerd; Superti-Furga, Andrea (1993). "Campomelic Dysplasia". GeneReviews. Seattle: University...
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  • Thumbnail for Cerebrovascular disease
    1161/01.HYP.31.1.445. PMID 9453343. Pepin, Melanie; Schwarze, Ulrike; Superti-Furga, Andrea; Byers, Peter H (2000). "Clinical and Genetic Features of Ehlers–Danlos...
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  • 949–963. doi:10.1038/s41573-019-0047-y. PMID 31666732. S2CID 204942300. Superti-Furga, G; et, al. (July 2020). "The RESOLUTE consortium: unlocking SLC transporters...
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  • Thumbnail for Gisou van der Goot
    Celeste M.; Martignetti, John A.; Rokicki, Dariusz; Bonafe, Luisa; Superti-Furga, Andrea (2011). "Hyaline Fibromatosis Syndrome inducing mutations in the...
    14 KB (1,233 words) - 11:19, 5 June 2024
  • Thumbnail for Disorders of sex development
    Textbook of Endocrinology. 25 (1). Unger, Sheila; Scherer, Gerd; Superti-Furga, Andrea (1993), Adam, Margaret P.; Everman, David B.; Mirzaa, Ghayda M.;...
    72 KB (7,774 words) - 19:55, 20 November 2024
  • Thumbnail for Juvenile idiopathic arthritis
    Torreggiani, S; Torcoletti, M; Campos-Xavier, B; Baldo, F; Agostoni, C; Superti-Furga, A; Filocamo, G (March 2019). "Progressive pseudorheumatoid dysplasia:...
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  • Thumbnail for Research Institute of Molecular Pathology
    2008-2021 Kim Nasmyth, senior scientist/managing director 1989-2003 Giulio Superti-Furga, PhD student 1988-1990 Elly Tanaka, senior scientist 2016-2024 Frank...
    12 KB (1,288 words) - 17:43, 12 June 2024
  • Thumbnail for Ollier disease
    S2CID 116863158. Spranger, Jürgen W.; Brill, Paula W.; Nishimura, Gen; Superti-Furga, Andrea; Unger, Sheila (September 2012), "Enchondromatosis (Ollier Disease)...
    29 KB (3,566 words) - 20:22, 3 December 2023