Connective tissue disease

Testing for osteogenesis imperfecta in cases of suspected non-accidental injury
A Marlowe, M G Pepin, P H Byers

Journal of Medical Genetics Jun 2002, 39 (6) 382-386; DOI: 10.1136/jmg.39.6.382
Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands
L Faivre, G Collod-Beroud, A Child, B Callewaert, B L Loeys, C Binquet, E Gautier, E Arbustini, K Mayer, M Arslan-Kirchner, C Stheneur, A Kiotsekoglou, P Comeglio, N Marziliano, D Halliday, C Beroud, C Bonithon-Kopp, M Claustres, H Plauchu, P N Robinson, L Adès, J De Backer, P Coucke, U Francke, A De Paepe, C Boileau, G Jondeau

Journal of Medical Genetics Jun 2008, 45 (6) 384-390; DOI: 10.1136/jmg.2007.056382
Screening patients referred to a metabolic clinic for lysosomal storage disorders
Maria Fuller, Justin N Tucker, Debbie L Lang, Caroline J Dean, Michael J Fietz, Peter J Meikle, John J Hopwood

Journal of Medical Genetics Jun 2011, 48 (6) 422-425; DOI: 10.1136/jmg.2010.088096
Disruption of one intra-chain disulphide bond in the carboxyl-terminal propeptide of the proα1(I) chain of type I procollagen permits slow assembly and secretion of overmodified, but stable procollagen trimers and results in mild osteogenesis imperfecta
James M Pace, Christine D Kuslich, Marcia C Willing, Peter H Byers

Journal of Medical Genetics Jul 2001, 38 (7) 443-449; DOI: 10.1136/jmg.38.7.443
Mutation in RAB33B, which encodes a regulator of retrograde Golgi transport, defines a second Dyggve–Melchior–Clausen locus
Muneera J Alshammari, Lefian Al-Otaibi, Fowzan S Alkuraya

Journal of Medical Genetics Jul 2012, 49 (7) 455-461; DOI: 10.1136/jmedgenet-2011-100666
Myopathy caused by HRAS germline mutations: implications for disturbed myogenic differentiation in the presence of constitutive HRas activation
Ineke van der Burgt, William Kupsky, Stephani Stassou, Ali Nadroo, Cândida Barroso, Angelika Diem, Christian P Kratz, Radovan Dvorsky, Mohammad Reza Ahmadian, Martin Zenker

Journal of Medical Genetics Jul 2007, 44 (7) 459-462; DOI: 10.1136/jmg.2007.049270
Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP
O Bartsch, K Locher, P Meinecke, W Kress, E Seemanová, A Wagner, K Ostermann, G Rödel

Journal of Medical Genetics Jul 2002, 39 (7) 496-501; DOI: 10.1136/jmg.39.7.496
Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders
A-M Nyström, S Ekvall, E Berglund, M Björkqvist, G Braathen, K Duchen, H Enell, E Holmberg, U Holmlund, M Olsson-Engman, G Annerén, M-L Bondeson

Journal of Medical Genetics Aug 2008, 45 (8) 500-506; DOI: 10.1136/jmg.2008.057653
Sotos syndrome and cutis laxa
Stephen P Robertson, Agnes Bankier

Journal of Medical Genetics Jan 1999, 36 (1) 51-56; DOI: 10.1136/jmg.36.1.51
PTPN11 mutations in LEOPARD syndrome
E Legius, C Schrander-Stumpel, E Schollen, C Pulles-Heintzberger, M Gewillig, J-P Fryns

Journal of Medical Genetics Aug 2002, 39 (8) 571-574; DOI: 10.1136/jmg.39.8.571

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