| 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 | 2715 | 2001 |
| 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 | 1550 | 2000 |
| Recommendations for a nomenclature system for human gene mutations SE Antonarakis, Nomenclature Working Group Human mutation 11 (1), 1-3, 1998 | 1094 | 1998 |
| 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 | 832 | 2011 |
| 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 | 721 | 2015 |
| 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 | 681 | 2003 |
| The Ehlers‐Danlos syndrome B Steinmann, PM Royce, A Superti‐Furga Connective tissue and its heritable disorders: molecular, genetic, and …, 2002 | 672 | 2002 |
| 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 | 664 | 2019 |
| 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 | 481 | 2003 |
| 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 | 432 | 2007 |
| 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 | 401 | 1991 |
| Bone dysplasias: an atlas of genetic disorders of skeletal development JW Spranger, PW Brill, C Hall, G Nishimura, A Superti-Furga, S Unger Oxford University Press, USA, 2018 | 393 | 2018 |
| 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 | 381 | 1998 |
| 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 | 375 | 2010 |
| 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 | 353 | 2008 |
| 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 | 342 | 2001 |
| Connective tissue and its heritable disorders: molecular, genetic, and medical aspects Wiley-Liss, 1993 | 341* | 1993 |
| 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 | 332 | 1996 |
| 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 | 321 | 2016 |
| 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 | 320 | 2004 |
Daniel CohnUCLAE-mail megerősítve itt: mcdb.ucla.edu
