Seuraa
Andrea Superti-Furga
Andrea Superti-Furga
Professor of Pediatrics and Genetic Medicine, University of Lausanne
Vahvistettu sähköpostiosoite verkkotunnuksessa unil.ch
Nimike
Viittaukset
Viittaukset
Vuosi
LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development
Y Gong, RB Slee, N Fukai, G Rawadi, S Roman-Roman, AM Reginato, ...
Cell 107 (4), 513-523, 2001
26772001
Clinical and genetic features of Ehlers–Danlos syndrome type IV, the vascular type
M Pepin, U Schwarze, A Superti-Furga, PH Byers
New England Journal of Medicine 342 (10), 673-680, 2000
15022000
Recommendations for a nomenclature system for human gene mutations
SE Antonarakis, Nomenclature Working Group
Human mutation 11 (1), 1-3, 1998
11081998
Nosology and classification of genetic skeletal disorders: 2010 revision
ML Warman, V Cormier‐Daire, C Hall, D Krakow, R Lachman, M LeMerrer, ...
American journal of medical genetics Part A 155 (5), 943-968, 2011
8212011
Nosology and classification of genetic skeletal disorders: 2015 revision
L Bonafe, V Cormier‐Daire, C Hall, R Lachman, G Mortier, S Mundlos, ...
American journal of medical genetics Part A 167 (12), 2869-2892, 2015
6682015
The Ehlers‐Danlos syndrome
B Steinmann, PM Royce, A Superti‐Furga
Connective tissue and its heritable disorders: molecular, genetic, and …, 2002
6642002
Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification
F Rutsch, N Ruf, S Vaingankar, MR Toliat, A Suk, W Höhne, G Schauer, ...
Nature genetics 34 (4), 379-381, 2003
6552003
Nosology and classification of genetic skeletal disorders: 2019 revision
GR Mortier, DH Cohn, V Cormier‐Daire, C Hall, D Krakow, S Mundlos, ...
American journal of medical genetics Part A 179 (12), 2393-2419, 2019
5792019
Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans
SP Robertson, SRF Twigg, AJ Sutherland-Smith, V Biancalana, RJ Gorlin, ...
Nature genetics 33 (4), 487-491, 2003
4712003
Nosology and classification of genetic skeletal disorders: 2006 revision
A Superti‐Furga, S Unger, ...
American journal of medical genetics Part A 143 (1), 1-18, 2007
4272007
Cyclosporin A slows collagen triple-helix formation in vivo: indirect evidence for a physiologic role of peptidyl-prolyl cis-trans-isomerase.
B Steinmann, P Bruckner, A Superti-Furga
Journal of Biological Chemistry 266 (2), 1299-1303, 1991
3971991
Bone dysplasias: an atlas of genetic disorders of skeletal development
JW Spranger, A Superti-Furga, S Unger
Oxford University Press, USA, 2018
3812018
Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis
DJ Shears, HJ Vassal, FR Goodman, RW Palmer, W Reardon, ...
Nature genetics 19 (1), 70-73, 1998
3791998
Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta
Y Alanay, H Avaygan, N Camacho, GE Utine, K Boduroglu, D Aktas, ...
The American Journal of Human Genetics 86 (4), 551-559, 2010
3652010
PC-1 nucleoside triphosphate pyrophosphohydrolase deficiency in idiopathic infantile arterial calcification
F Rutsch, S Vaingankar, K Johnson, I Goldfine, B Maddux, P Schauerte, ...
The American journal of pathology 158 (2), 543-554, 2001
3342001
The zinc transporter SLC39A13/ZIP13 is required for connective tissue development; its involvement in BMP/TGF-β signaling pathways
T Fukada, N Civic, T Furuichi, S Shimoda, K Mishima, H Higashiyama, ...
PloS one 3 (11), e3642, 2008
3322008
Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13.
Y Gong, M Vikkula, L Boon, J Liu, P Beighton, R Ramesar, L Peltonen, ...
American journal of human genetics 59 (1), 146, 1996
3221996
Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia
JR Hurvitz, WM Suwairi, W Van Hul, H El-Shanti, A Superti-Furga, ...
Nature genetics 23 (1), 94-98, 1999
3171999
Exome sequencing and the management of neurometabolic disorders
M Tarailo-Graovac, C Shyr, CJ Ross, GA Horvath, R Salvarinova, XC Ye, ...
New England Journal of Medicine 374 (23), 2246-2255, 2016
3162016
Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis
D Krakow, SP Robertson, LM King, T Morgan, ET Sebald, C Bertolotto, ...
Nature genetics 36 (4), 405-410, 2004
3052004
Järjestelmä ei voi suorittaa toimenpidettä nyt. Yritä myöhemmin uudelleen.
Artikkelit 1–20