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Results: 1-12 |
Results: 12

Authors: Mehta, RK Burrows, NR Payne, CMER Mendelsohn, SS Pope, FM Rytina, E
Citation: Rk. Mehta et al., Elastosis perforans serpiginosa and associated disorders, CLIN EXP D, 26(6), 2001, pp. 521-524

Authors: Nicholls, AC Valler, D Wallis, S Pope, FM
Citation: Ac. Nicholls et al., Homozygosity for a splice site mutation of the COL1A2 gene yields a non-functional pro alpha 2(I) chain and an EDS/OI clinical phenotype, J MED GENET, 38(2), 2001, pp. 132-135

Authors: Woodrow, SL Pope, FM Handfield-Jones, SE
Citation: Sl. Woodrow et al., The Buschke-Ollendorff syndrome presenting as familial elastic tissue naevi, BR J DERM, 144(4), 2001, pp. 890-893

Authors: Le Saux, O Beck, K Sachsinger, C Silvestri, C Treiber, C Goring, HHH Johnson, EW De Paepe, A Pope, FM Pasquali-Ronchetti, I Bercovitch, L Terry, S Boyd, CD
Citation: O. Le Saux et al., A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum, AM J HU GEN, 69(4), 2001, pp. 749-764

Authors: Le Saux, O Urban, Z Tschuch, C Csiszar, K Bacchelli, B Quaglino, D Pasquali-Ronchetti, I Pope, FM Richards, A Terry, S Bercovitch, L de Paepe, A Boyd, CD
Citation: O. Le Saux et al., Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum, NAT GENET, 25(2), 2000, pp. 223-227

Authors: Ascione, R Gomes, WJ Bates, M Shannon, JL Pope, FM Angelini, GD
Citation: R. Ascione et al., Emergency repair of type A aortic dissection in type IV Ehlers-Danlos syndrome, CARDIOV SUR, 8(1), 2000, pp. 75-78

Authors: Le Saux, O Urban, Z Goring, HHH Csiszar, K Pope, FM Richards, A Pasquali-Ronchetti, I Terry, S Bercovitch, L Lebwohl, MC Breuning, M van den Berg, P Kornet, L Doggett, N Ott, J de Jong, PTVM Bergen, AAB Boyd, CD
Citation: O. Le Saux et al., Pseudoxanthoma elasticum maps to an 820-kb region of the p13.1 region of chromosome 16 (vol 62, pg 1, 1999), GENOMICS, 63(3), 2000, pp. 439-439

Authors: Sarathchandra, P Pope, FM Kayser, MV Ali, SY
Citation: P. Sarathchandra et al., A light and electron microscopic study of osteogenesis imperfecta bone samples, with reference to collagen chemistry and clinical phenotype, J PATHOLOGY, 192(3), 2000, pp. 385-395

Authors: Richards, AJ Martin, S Yates, JRW Scott, JD Baguley, DM Pope, FM Snead, MP
Citation: Aj. Richards et al., COL2A1 exon 2 mutations: relevance to the Stickler and Wagner syndromes, BR J OPHTH, 84(4), 2000, pp. 364-371

Authors: Le Saux, O Urban, Z Goring, HHH Csiszar, K Pope, FM Richards, A Pasquali-Ronchetti, I Terry, S Bercovitch, L Lebwohl, MG Breuning, M van den Berg, P Kornet, L Ott, J de Jong, PTVM Bergen, AAB Boyd, CD
Citation: O. Le Saux et al., Pseudoxanthoma elasticum maps to an 820-kb region of the p13.1 region of chromosome 16, GENOMICS, 62(1), 1999, pp. 1-10

Authors: Sarathchandra, P Pope, FM Ali, SY
Citation: P. Sarathchandra et al., Morphometric analysis of type I collagen fibrils in the osteoid of osteogenesis imperfecta, CALCIF TIS, 65(5), 1999, pp. 390-395

Authors: Neblam, M Charles-Holmes, R Pope, FM
Citation: M. Neblam et al., Venous blebs on the toes in type IV Ehlers-Danlos syndrome, BR J DERM, 140(3), 1999, pp. 543-544
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