| 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 | 2725 | 2001 |
| Ehlers‐Danlos syndromes: revised nosology, Villefranche, 1997 P Beighton, AD Paepe, B Steinmann, P Tsipouras, RJ Wenstrup American journal of medical genetics 77 (1), 31-37, 1998 | 2370 | 1998 |
| The Ehlers‐Danlos syndrome B Steinmann, PM Royce, A Superti‐Furga Connective tissue and its heritable disorders: molecular, genetic, and …, 2002 | 673 | 2002 |
| Update of the UMD‐FBN1 mutation database and creation of an FBN1 polymorphism database G Collod‐Béroud, S Le Bourdelles, L Ades, L Ala‐Kokko, P Booms, ... Human mutation 22 (3), 199-208, 2003 | 426 | 2003 |
| 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 | 400 | 1991 |
| Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome R Santer, R Schneppenheim, A Dombrowski, H Götze, B Steinmann, ... Nature genetics 17 (3), 324-326, 1997 | 361 | 1997 |
| Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6 Y Nitschke, G Baujat, U Botschen, T Wittkampf, M du Moulin, J Stella, ... The American Journal of Human Genetics 90 (1), 25-39, 2012 | 342 | 2012 |
| 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 | 329 | 1996 |
| Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Effects of mutant gene dosage on phenotype. MR Pollak, YH Chou, SJ Marx, B Steinmann, DE Cole, ML Brandi, ... The Journal of clinical investigation 93 (3), 1108-1112, 1994 | 306 | 1994 |
| Connective tissue and its heritable disorders: molecular, genetic, and medical aspects PM Royce, B Steinmann John Wiley & Sons, 2003 | 302* | 2003 |
| Genetic linkage of the Marfan syndrome, ectopia lentis, and congenital contractural arachnodactyly to the fibrillin genes on chromosomes 15 and 5 P Tsipouras, R Del Mastro, M Sarfarazi, B Lee, E Vitale, AH Child, ... New England Journal of Medicine 326 (14), 905-909, 1992 | 298 | 1992 |
| Spondylocheiro dysplastic form of the Ehlers-Danlos syndrome—an autosomal-recessive entity caused by mutations in the zinc transporter gene SLC39A13 C Giunta, NH Elçioglu, B Albrecht, G Eich, C Chambaz, AR Janecke, ... The American Journal of Human Genetics 82 (6), 1290-1305, 2008 | 254 | 2008 |
| Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome JA Mayr, TB Haack, E Graf, FA Zimmermann, T Wieland, B Haberberger, ... The American Journal of Human Genetics 90 (2), 314-320, 2012 | 240 | 2012 |
| Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene A Superti-Furga, J Hästbacka, WR Wilcox, DH Cohn, HJ van der Harten, ... Nature genetics 12 (1), 100-102, 1996 | 237 | 1996 |
| Ehlers-Danlos syndrome type IV: a multi-exon deletion in one of the two COL3A1 alleles affecting structure, stability, and processing of type III procollagen. A Superti-Furga, E Gugler, R Gitzelmann, B Steinmann Journal of Biological Chemistry 263 (13), 6226-6232, 1988 | 221 | 1988 |
| Fanconi-Bickel syndrome–the original patient and his natural history, historical steps leading to the primary defect, and a review of the literature R Santer, R Schneppenheim, D Suter, J Schaub, B Steinmann European journal of pediatrics 157, 783-797, 1998 | 218 | 1998 |
| In vivo and in vitro characterization of neonatal hyperparathyroidism resulting from a de novo, heterozygous mutation in the Ca2+-sensing receptor gene: normal maternal calcium … M Bai, SH Pearce, O Kifor, S Trivedi, UG Stauffer, RV Thakker, EM Brown, ... The Journal of clinical investigation 99 (1), 88-96, 1997 | 215 | 1997 |
| Cysteine in the triple-helical domain of one allelic product of the alpha 1 (I) gene of type I collagen produces a lethal form of osteogenesis imperfecta. B Steinmann, VH Rao, A Vogel, P Bruckner, R Gitzelmann, PH Byers Journal of Biological Chemistry 259 (17), 11129-11138, 1984 | 215 | 1984 |
| Mass fragmentography of dopamine and 6-hydroxydopamine: application to the determination of dopamine in human brain biopsies from the caudate nucleus HC Curtius, M Wolfensberger, B Steinmann, U Redweik, J Siegfried Journal of Chromatography A 99, 529-540, 1974 | 202 | 1974 |
| Consistent linkage of dominantly inherited osteogenesis imperfecta to the type I collagen loci: COL1A1 and COL1A2 B Sykes, D Ogilvie, P Wordsworth, G Wallis, C Mathew, P Beighton, ... American journal of human genetics 46 (2), 293, 1990 | 201 | 1990 |
Andrea Superti-FurgaProfessor of Pediatrics and Genetic Medicine, University of Lausanneยืนยันอีเมลแล้วที่ unil.ch