Results: 1-19 |
Results: 19

Authors: Paassilta, P Lohiniva, J Goring, HHH Perala, M Raina, SS Karppinen, J Hakala, M Palm, T Kroger, H Kaitila, I Vanharanta, H Ott, J Ala-Kokko, L
Citation: P. Paassilta et al., Identification of a novel common genetic risk factor for lumbar disk disease, J AM MED A, 285(14), 2001, pp. 1843-1849

Authors: Ridanpaa, M van Eenennaam, H Pelin, K Chadwick, R Johnson, C Yuan, B vanVenrooij, W Pruijn, G Salmela, R Rockas, S Makitie, O Kaitila, I de la Chapelle, A
Citation: M. Ridanpaa et al., Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia, CELL, 104(2), 2001, pp. 195-203

Authors: Kajantie, E Andersson, S Kaitila, I
Citation: E. Kajantie et al., Familial asphyxiating thoracic dysplasia: Clinical variability and impact of improved neonatal intensive care, J PEDIAT, 139(1), 2001, pp. 130-133

Authors: Makitie, O Kaitila, I Rintala, R
Citation: O. Makitie et al., Hirschsprung disease associated with severe cartilage-hair hypoplasia, J PEDIAT, 138(6), 2001, pp. 929-931

Authors: Makitie, O Pukkala, E Kaitila, I
Citation: O. Makitie et al., Increased mortality in cartilage-hair hypoplasia, ARCH DIS CH, 84(1), 2001, pp. 65-67

Authors: Kajantie, E Pirinen, S Tommiska, V Kaitila, I
Citation: E. Kajantie et al., A syndrome with midface asymmetry, defective modelling of the skeleton, catch-up growth and truncal obesity, CLIN DYSMOR, 9(4), 2000, pp. 259-264

Authors: Kuurila, K Grenman, R Johansson, R Kaitila, I
Citation: K. Kuurila et al., Hearing loss in children with osteogenesis imperfecta, EUR J PED, 159(7), 2000, pp. 515-519

Authors: Boerkoel, CF O'Neill, S Andre, JL Benke, PJ Bogdanovic, R Bulla, M Burguet, A Cockfield, S Cordeiro, I Ehrich, JHH Frund, S Geary, DF Ieshima, A Illies, F Joseph, MW Kaitila, I Lama, G Leheup, B Ludman, MD McLeod, DR Medeira, A Milford, DV Ormala, T Rener-Primec, Z Santava, A Santos, HG Schmidt, B Smith, GC Spranger, J Zupancic, N Weksberg, R
Citation: Cf. Boerkoel et al., Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature, EUR J PED, 159(1-2), 2000, pp. 1-7

Authors: Kivioja, A Wolf, M Ervasti, H Kinnunen, J Bohling, WT Kaitila, I
Citation: A. Kivioja et al., Chondrosarcoma in a family with multiple hereditary exostoses (vol 82, pg 261, 2000), J BONE-BR V, 82B(8), 2000, pp. 1210-1210

Authors: Kivioja, A Ervasti, H Kinnunen, J Kaitila, I Wolf, M Bohling, T
Citation: A. Kivioja et al., Chondrosarcoma in a family with multiple hereditary exostoses, J BONE-BR V, 82B(2), 2000, pp. 261-266

Authors: Makitie, O Kaitila, I Savilahti, E
Citation: O. Makitie et al., Deficiency of humoral immunity in cartilage-hair hypoplasia, J PEDIAT, 137(4), 2000, pp. 487-492

Authors: Makitie, O Juvonen, E Dunkel, L Kaitila, I Siimes, MA
Citation: O. Makitie et al., Anemia in children with cartilage-hair hypoplasia is related to body growth and to the insulin-like growth factor system, J CLIN END, 85(2), 2000, pp. 563-568

Authors: Hastbacka, J Kerrebrock, A Mokkala, K Clines, G Lovett, M Kaitila, I de la Chapelle, A Lander, ES
Citation: J. Hastbacka et al., Identification of the Finnish founder mutation for diastrophic dysplasia (DTD), EUR J HUM G, 7(6), 1999, pp. 664-670

Authors: Vakkilainen, T Kivipensas, P Kaitila, I de le Chapelle, A Ridanpaa, M
Citation: T. Vakkilainen et al., Integrated high-resolution BAC, P1, and transcript map of the CHH region in chromosome 9p13, GENOMICS, 59(3), 1999, pp. 319-325

Authors: Remes, V Marttinen, E Poussa, M Kaitila, I Peltonen, J
Citation: V. Remes et al., Cervical kyphosis in diastrophic dysplasia, SPINE, 24(19), 1999, pp. 1990-1995

Authors: Makitie, O Pukkala, E Teppo, L Kaitila, I
Citation: O. Makitie et al., Increased incidence of cancer in patients with cartilage-hair hypoplasia, J PEDIAT, 134(3), 1999, pp. 315-318

Authors: Annunen, S Korkko, J Czarny, M Warman, ML Brunner, HG Kaariainen, H Mulliken, JB Tranebjaerg, L Brooks, DG Cox, GF Cruysberg, JR Curtis, MA Davenport, SLH Friedrich, CA Kaitila, I Krawczynski, MR Latos-Bielenska, A Mukai, S Olsen, BR Shinno, N Somer, M Vikkula, M Zlotogora, J Prockop, DJ Ala-Kokko, L
Citation: S. Annunen et al., Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes, AM J HU GEN, 65(4), 1999, pp. 974-983

Authors: Rantamaki, T Kaitila, I Syvanen, AC Lukka, M Peltonen, L
Citation: T. Rantamaki et al., Recurrence of Marfan syndrome as a result of parental germ-line mosaicism for an FBN1 mutation, AM J HU GEN, 64(4), 1999, pp. 993-1001

Authors: McIntosh, I Dreyer, SD Clough, MV Dunston, JA Eyaid, W Roig, CM Montgomery, T Ala-Mello, S Kaitila, I Winterpacht, A Zabel, B Frydman, M Cole, WG Francomano, CA Lee, B
Citation: I. Mcintosh et al., Mutation analysis of LMX1B gene in nail-patella syndrome patients, AM J HU GEN, 63(6), 1998, pp. 1651-1658
Risultati: 1-19 |