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Results: 1-17 |
Results: 17
Multiple epiphyseal dysplasia: radiographic abnormalities correlated with genotype
Authors: Unger, SL Briggs, MD Holden, P Zabel, B Ala-Kokko, L Paassilta, P Lohiniva, J Rimoin, DL Lachman, RS Cohn, DH
Citation: Sl. Unger et al., Multiple epiphyseal dysplasia: radiographic abnormalities correlated with genotype, PEDIAT RAD, 31(1), 2001, pp. 10-18
"Duplicate calcaneus": a rare developmental defect observed in several skeletal dysplasias
Authors: Cormier-Daire, V Savarirayan, R Unger, S Rimoin, DL Lachman, RS
Citation: V. Cormier-daire et al., "Duplicate calcaneus": a rare developmental defect observed in several skeletal dysplasias, PEDIAT RAD, 31(1), 2001, pp. 38-42
Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita
Authors: Unger, S Korkko, J Krakow, D Lachman, RS Rimoin, DL Cohn, DH
Citation: S. Unger et al., Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita, AM J MED G, 104(2), 2001, pp. 140-146
"Baby rattle" pelvis dysplasia
Authors: Cormier-Daire, V Savarirayan, R Lachman, RS Neidich, JA Grace, K Rimoin, DL Wilcox, WR
Citation: V. Cormier-daire et al., "Baby rattle" pelvis dysplasia, AM J MED G, 100(1), 2001, pp. 37-42
The molecular basis of X-linked spondyloepiphyseal dysplasia tarda
Authors: Gedeon, AK Tiller, GE Le Merrer, M Heuertz, S Tranebjaerg, L Chitayat, D Robertson, S Glass, IA Savarirayan, R Cole, WG Rimoin, DL Kousseff, BG Ohashi, H Zabel, B Munnich, A Gecz, J Mulley, JC
Citation: Ak. Gedeon et al., The molecular basis of X-linked spondyloepiphyseal dysplasia tarda, AM J HU GEN, 68(6), 2001, pp. 1386-1397
Exclusion of the Ellis-van Creveld region on chromosome 4p16 in some families with asphyxiating thoracic dystrophy and short-rib polydactyly syndromes
Authors: Krakow, D Salazar, D Wilcox, WR Rimoin, DL Cohn, DH
Citation: D. Krakow et al., Exclusion of the Ellis-van Creveld region on chromosome 4p16 in some families with asphyxiating thoracic dystrophy and short-rib polydactyly syndromes, EUR J HUM G, 8(8), 2000, pp. 645-648
Schmid type metaphyseal chondrodysplasia: a spondylometaphyseal dysplasia identical to the "Japanese" type
Authors: Savarirayan, R Cormier-Daire, V Lachman, RS Rimoin, DL
Citation: R. Savarirayan et al., Schmid type metaphyseal chondrodysplasia: a spondylometaphyseal dysplasia identical to the "Japanese" type, PEDIAT RAD, 30(7), 2000, pp. 460-463
Pathological fractures in spondyloenchondrodysplasia: case report
Authors: Udler, Y Halpern, GJ Lachman, RS Rimoin, DL Shohat, M
Citation: Y. Udler et al., Pathological fractures in spondyloenchondrodysplasia: case report, PEDIAT RAD, 30(2), 2000, pp. 119-120
Scapuloiliac dysostosis (Kosenow syndrome, Pelvis-Shoulder Dysplasia) spectrum: Three additional cases
Authors: Elliott, AM Roeder, ER Witt, DR Rimoin, DL Lachman, RS
Citation: Am. Elliott et al., Scapuloiliac dysostosis (Kosenow syndrome, Pelvis-Shoulder Dysplasia) spectrum: Three additional cases, AM J MED G, 95(5), 2000, pp. 496-506
Oto-palato-digital syndrome, type II: Report of three cases with further delineation of the chondro-osseous morphology
Authors: Savarirayan, R Cormier-Daire, V Unger, S Lachman, RS Roughley, PJ Wagner, SF Rimoin, DL Wilcox, WR
Citation: R. Savarirayan et al., Oto-palato-digital syndrome, type II: Report of three cases with further delineation of the chondro-osseous morphology, AM J MED G, 95(3), 2000, pp. 193-200
New mesomelic dysplasia with absent fibulae and triangular tibiae
Authors: Savarirayan, R Cormier-Daire, V Curry, CJ Nashelsky, MB Rappaport, V Rimoin, DL Lachman, RS
Citation: R. Savarirayan et al., New mesomelic dysplasia with absent fibulae and triangular tibiae, AM J MED G, 94(1), 2000, pp. 59-63
Mutations in the gene encoding 3 beta-hydroxysteroid-Delta(8),Delta(7)-isomerase cause X-linked dominant Conradi-Hunermann syndrome
Authors: Braverman, N Lin, P Moebius, FF Obie, C Moser, A Glossmann, H Wilcox, WR Rimoin, DL Smith, M Kratz, L Kelley, RI Valle, D
Citation: N. Braverman et al., Mutations in the gene encoding 3 beta-hydroxysteroid-Delta(8),Delta(7)-isomerase cause X-linked dominant Conradi-Hunermann syndrome, NAT GENET, 22(3), 1999, pp. 291-294
Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis
Authors: Gong, YQ Krakow, D Marcelino, J Wilkin, D Chitayat, D Babul-Hirji, R Hudgins, L Cremers, CW Cremers, FPM Brunner, HG Reinker, K Rimoin, DL Cohn, DH Goodman, FR Reardon, W Patton, M Francomano, CA Warman, ML
Citation: Yq. Gong et al., Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis, NAT GENET, 21(3), 1999, pp. 302-304
Prenatal diagnosis of rhizomelic chondrodysplasia punctata due to isolatedalkyldihydroacetonephosphate acyltransferase synthase deficiency
Authors: Brookhyser, KM Lipson, MH Moser, AB Moser, HW Lachman, RS Rimoin, DL
Citation: Km. Brookhyser et al., Prenatal diagnosis of rhizomelic chondrodysplasia punctata due to isolatedalkyldihydroacetonephosphate acyltransferase synthase deficiency, PRENAT DIAG, 19(4), 1999, pp. 383-385
Small deletions in the type II collagen triple helix produce Kniest dysplasia
Authors: Wilkin, DJ Artz, AS South, S Lachman, RS Rimoin, DL Wilcox, WR McKusick, VA Stratakis, CA Francomano, CA Cohn, DH
Citation: Dj. Wilkin et al., Small deletions in the type II collagen triple helix produce Kniest dysplasia, AM J MED G, 85(2), 1999, pp. 105-112
Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): Phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3
Authors: Bellus, GA Bamshad, MJ Przylepa, KA Dorst, J Lee, RR Hurko, O Jabs, EW Curry, CJR Wilcox, WR Lachman, RS Rimoin, DL Francomano, CA
Citation: Ga. Bellus et al., Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): Phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3, AM J MED G, 85(1), 1999, pp. 53-65
Characterization of novel cathepsin K mutations in the pro and mature polypeptide regions causing pycnodysostosis
Authors: Hou, WS Bromme, D Zhao, YM Mehler, E Dushey, C Weinstein, H Miranda, CS Fraga, C Greig, F Carey, J Rimoin, DL Desnick, RJ Gelb, BD
Citation: Ws. Hou et al., Characterization of novel cathepsin K mutations in the pro and mature polypeptide regions causing pycnodysostosis, J CLIN INV, 103(5), 1999, pp. 731-738
Risultati: 1-17 |