Connective tissue disease

Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation
A Willaert, F Malfait, S Symoens, K Gevaert, H Kayserili, A Megarbane, G Mortier, J G Leroy, P J Coucke, A De Paepe

Journal of Medical Genetics Apr 2009, 46 (4) 233-241; DOI: 10.1136/jmg.2008.062729
Aortic aneurysmal disease and cutis laxa caused by defects in the elastin gene
Z Szabo, M W Crepeau, A L Mitchell, M J Stephan, R A Puntel, K Yin Loke, R C Kirk, Z Urban

Journal of Medical Genetics Mar 2006, 43 (3) 255-258; DOI: 10.1136/jmg.2005.034157
Report of five novel and one recurrentCOL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder
Geert R Mortier, MaryAnn Weis, Lieve Nuytinck, Lily M King, Douglas J Wilkin, Anne De Paepe, Ralph S Lachman, David L Rimoin, David R Eyre, Daniel H Cohn

Journal of Medical Genetics Apr 2000, 37 (4) 263-271; DOI: 10.1136/jmg.37.4.263
A study of common Mendelian disease carriers across ageing British cohorts: meta-analyses reveal heterozygosity for alpha 1-antitrypsin deficiency increases respiratory capacity and height
Teri-Louise North, Yoav Ben-Shlomo, Cyrus Cooper, Ian J Deary, John Gallacher, Mika Kivimaki, Meena Kumari, Richard M Martin, Alison Pattie, Avan Aihie Sayer, John M Starr, Andrew Wong, Diana Kuh, Santiago Rodriguez, Ian N M Day

Journal of Medical Genetics Apr 2016, 53 (4) 280-288; DOI: 10.1136/jmedgenet-2015-103342
The human GIMAP5 gene has a common polyadenylation polymorphism increasing risk to systemic lupus erythematosus
Anna Hellquist, Marco Zucchelli, Katja Kivinen, Ulpu Saarialho-Kere, Sari Koskenmies, Elisabeth Widen, Heikki Julkunen, Andrew Wong, Marja-Liisa Karjalainen-Lindsberg, Tiina Skoog, Johanna Vendelin, Deborah S Cunninghame-Graham, Timothy J Vyse, Juha Kere, Cecilia M Lindgren

Journal of Medical Genetics May 2007, 44 (5) 314-321; DOI: 10.1136/jmg.2006.046185
In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome
L Faivre, R J Gorlin, M K Wirtz, M Godfrey, N Dagoneau, J R Samples, M Le Merrer, G Collod-Beroud, C Boileau, A Munnich, V Cormier-Daire

Journal of Medical Genetics Jan 2003, 40 (1) 34-36; DOI: 10.1136/jmg.40.1.34
Mutations in WNT1 are a cause of osteogenesis imperfecta
Somayyeh Fahiminiya, Jacek Majewski, John Mort, Pierre Moffatt, Francis H Glorieux, Frank Rauch

Journal of Medical Genetics May 2013, 50 (5) 345-348; DOI: 10.1136/jmedgenet-2013-101567
DHCR7 nonsense mutations and characterisation of mRNA nonsense mediated decay in Smith-Lemli-Opitz syndrome
L S Correa-Cerro, C A Wassif, J S Waye, P A Krakowiak, D Cozma, N R Dobson, S W Levin, G Anadiotis, R D Steiner, M Krajewska-Walasek, M J M Nowaczyk, F D Porter

Journal of Medical Genetics Apr 2005, 42 (4) 350-357; DOI: 10.1136/jmg.2004.022749
LBR mutation and nuclear envelope defects in a patient affected with Reynolds syndrome
Caroline Gaudy-Marqueste, Patrice Roll, Vera Esteves-Vieira, Pierre-Jean Weiller, Jean Jacques Grob, Pierre Cau, Nicolas Lévy, Annachiara De Sandre-Giovannoli

Journal of Medical Genetics Jun 2010, 47 (6) 361-370; DOI: 10.1136/jmg.2009.071696
Glycine to tryptophan substitution in type I collagen in a patient with OI type III: a unique collagen mutation
Lieve Nuytinck, Turgut Tükel, Hülya Kayserili, Memnune Yüksel Apak, Anne De Paepe

Journal of Medical Genetics May 2000, 37 (5) 371-375; DOI: 10.1136/jmg.37.5.371

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Connective tissue disease

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