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Results: 1-25 | 26-27
Results: 1-25/27
Special issue: Skeletal dysplasia - Introduction and overview
Authors: Lachman, RS
Citation: Rs. Lachman, Special issue: Skeletal dysplasia - Introduction and overview, PEDIAT RAD, 31(1), 2001, pp. 1-1
Radiographic findings and Gs-alpha bioactivity studies and mutation screening in acrodysostosis indicate a different etiology from pseudohypoparathyroidism
Authors: Graham, JM Krakow, D Tolo, VT Smith, AK Lachman, RS
Citation: Jm. Graham et al., Radiographic findings and Gs-alpha bioactivity studies and mutation screening in acrodysostosis indicate a different etiology from pseudohypoparathyroidism, PEDIAT RAD, 31(1), 2001, pp. 2-9
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
A new form of spondyloperipheral dysplasia with facial dysmorphism, flattened vertebrae, hypoplastic pelvis, brachydactyly and soft tissue syndactyly
Authors: Kitoh, H Lachman, RS
Citation: H. Kitoh et Rs. Lachman, A new form of spondyloperipheral dysplasia with facial dysmorphism, flattened vertebrae, hypoplastic pelvis, brachydactyly and soft tissue syndactyly, PEDIAT RAD, 31(1), 2001, pp. 23-26
"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
Asynchronous asymmetric form of heterogeneous osteopetrosis: initial case expanded and a new case
Authors: Young, LW Lachman, RS
Citation: Lw. Young et Rs. Lachman, Asynchronous asymmetric form of heterogeneous osteopetrosis: initial case expanded and a new case, PEDIAT RAD, 31(1), 2001, pp. 48-53
Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an Ala391Glu substitution in FGFR3
Authors: Schweitzer, DN Graham, JM Lachman, RS Jabs, EW Okajima, K Przylepa, KA Shanske, A Chen, K Neidich, JA Wilcox, WR
Citation: Dn. Schweitzer et al., Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an Ala391Glu substitution in FGFR3, AM J MED G, 98(1), 2001, pp. 75-91
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
Characterization of a long-term survivor with Stuve-Wiedemann syndrome andmosaicism of a supernumerary marker chromosome
Authors: Chen, E Cotter, PD Cohen, RA Lachman, RS
Citation: E. Chen et al., Characterization of a long-term survivor with Stuve-Wiedemann syndrome andmosaicism of a supernumerary marker chromosome, AM J MED G, 101(3), 2001, pp. 240-245
Progressive erosive arthropathy with contractures, multicentric osteolysis-like changes, characteristic craniofacial appearance, and dermatological abnormalities: A new syndrome?
Authors: Teebi, AS Elliott, AM Azouz, EM Lachman, RS
Citation: As. Teebi et al., Progressive erosive arthropathy with contractures, multicentric osteolysis-like changes, characteristic craniofacial appearance, and dermatological abnormalities: A new syndrome?, AM J MED G, 100(3), 2001, pp. 198-203
"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
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
Uruguay facio-cardio-musculo-skeletal syndrome: A novel X-linked recessivedisorder
Authors: Quadrelli, R Vaglio, A Reyno, S Lemes, A Salazar, D Lachman, RS Wilcox, WR
Citation: R. Quadrelli et al., Uruguay facio-cardio-musculo-skeletal syndrome: A novel X-linked recessivedisorder, AM J MED G, 95(3), 2000, pp. 247-265
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
Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder
Authors: Mortier, GR Weis, M Nuytinck, L King, LM Wilkin, DJ De Paepe, A Lachman, RS Rimoin, D Eyre, DR Cohn, DH
Citation: Gr. Mortier et al., Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder, J MED GENET, 37(4), 2000, pp. 263-271
Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder (vol 37, pg 263, 2000)
Authors: Mortier, GR Weis, M Nuytinck, L King, LM Wilkin, DJ DePaepe, A Lachman, RS Rimoin, D Eyre, DR Cohn, DH
Citation: Gr. Mortier et al., Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder (vol 37, pg 263, 2000), J MED GENET, 37(10), 2000, pp. 815-815
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
Platyspondylic lethal skeletal dysplasia, San Diego type, is caused by FGFR3 mutations
Authors: Brodie, SG Kitoh, H Lachman, RS Nolasco, LM Mekikian, PB Wilcox, WR
Citation: Sg. Brodie et al., Platyspondylic lethal skeletal dysplasia, San Diego type, is caused by FGFR3 mutations, AM J MED G, 84(5), 1999, pp. 476-480
Acrodysplasia, severe ossification abnormalities with short stature, and fibular hypoplasia
Authors: Castriota-Scanderbeg, A Zelante, L Masala, S Gasparini, P Lachman, RS
Citation: A. Castriota-scanderbeg et al., Acrodysplasia, severe ossification abnormalities with short stature, and fibular hypoplasia, AM J MED G, 84(1), 1999, pp. 68-73
Lethal osteosclerotic skeletal dysplasia with intracellular inclusion bodies
Authors: Brodie, SG Lachman, RS McGovern, MM Mekikian, PB Wilcox, WR
Citation: Sg. Brodie et al., Lethal osteosclerotic skeletal dysplasia with intracellular inclusion bodies, AM J MED G, 83(5), 1999, pp. 372-377
Risultati: 1-25 | 26-27