Connective tissue disease

Citations 1-10 of 73 total displayed.

Original articles
Association of chromosome 2q36.1–36.3 and autosomal dominant transmission in ankylosing spondylitis: results of genetic studies across generations of Han Chinese families

J Gu, J Huang, C Li, L Zhao, F Huang, Z Liao, T Li, Q Wei, Z Lin, Y Pan, J Huang, X Wang, Q Lin, C Lu, Y Wu, S Cao, J Wu, H Xu, B Yu, Y Shen
J. Med. Genet. 2009 46: 657 -662; published online before print as 10.1136/jmg.2009.066456 [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
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
J. Med. Genet. 2009 46: 233 -241; published online before print as 10.1136/jmg.2008.062729 [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendix ]  

Original articles
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
J. Med. Genet. 2008 45: 500 -506; published online before print as 10.1136/jmg.2008.057653 [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendix ]  

Original articles
Interferon regulatory factor 5 (IRF5) gene variants are associated with multiple sclerosis in three distinct populations

G Kristjansdottir, J K Sandling, A Bonetti, I M Roos, L Milani, C Wang, S M Gustafsdottir, S Sigurdsson, A Lundmark, P J Tienari, K Koivisto, I Elovaara, T Pirttilä, M Reunanen, L Peltonen, J Saarela, J Hillert, T Olsson, U Landegren, A Alcina, O Fernández, L Leyva, M Guerrero, M Lucas, G Izquierdo, F Matesanz, A-C Syvänen
J. Med. Genet. 2008 45: 362 -369; published online before print as 10.1136/jmg.2007.055012 [Abstract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
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
J. Med. Genet. 2008 45: 384 -390; published online before print as 10.1136/jmg.2007.056382 [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
Myosin IXB gene region and gluten intolerance: linkage to coeliac disease and a putative dermatitis herpetiformis association

L L E Koskinen, I R Korponay-Szabo, K Viiri, K Juuti-Uusitalo, K Kaukinen, K Lindfors, K Mustalahti, K Kurppa, R Ádány, Z Pocsai, G Széles, E Einarsdottir, C Wijmenga, M Mäki, J Partanen, J Kere, P Saavalainen
J. Med. Genet. 2008 45: 222 -227; published online before print as 10.1136/jmg.2007.053991 [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendices ]  

Original articles
Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype–phenotype relationships and overlap with Costello syndrome

Caroline Nava, Nadine Hanna, Caroline Michot, Sabrina Pereira, Nathalie Pouvreau, Tetsuya Niihori, Yoko Aoki, Yoichi Matsubara, Benoit Arveiler, Didier Lacombe, Eric Pasmant, Béatrice Parfait, Clarisse Baumann, Delphine Héron, Sabine Sigaudy, Annick Toutain, Marlène Rio, Alice Goldenberg, Bruno Leheup, Alain Verloes, Hélène Cavé
J. Med. Genet. 2007 44: 763 -771; published online before print as 10.1136/jmg.2007.050450 [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
Mutation detection in the ABCC6 gene and genotype–phenotype analysis in a large international case series affected by pseudoxanthoma elasticum

Ellen G Pfendner, Olivier M Vanakker, Sharon F Terry, Sophia Vourthis, Patricia E McAndrew, Monica R McClain, Sarah Fratta, Anna-Susan Marais, Susan Hariri, Paul J Coucke, Michele Ramsay, Denis Viljoen, Patrick F Terry, Anne De Paepe, Jouni Uitto, Lionel G Bercovitch
J. Med. Genet. 2007 44: 621 -628; published online before print as 10.1136/jmg.2007.051094 [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendices ]  

Letters to JMG
SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome

Martin Zenker, Denise Horn, Dagmar Wieczorek, Judith Allanson, Silke Pauli, Ineke van der Burgt, Helmuth-Guenther Doerr, Harald Gaspar, Michael Hofbeck, Gabriele Gillessen-Kaesbach, Andreas Koch, Peter Meinecke, Stefan Mundlos, Anja Nowka, Anita Rauch, Silke Reif, Christian von Schnakenburg, Heide Seidel, Lars-Erik Wehner, Christiane Zweier, Susanne Bauhuber, Verena Matejas, Christian P Kratz, Christoph Thomas, Kerstin Kutsche
J. Med. Genet. 2007 44: 651 -656; published online before print as 10.1136/jmg.2007.051276 [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendix ]  

Letters to JMG
The IRF5 polymorphism in type 1 diabetes

Hui-Qi Qu, Luc Marchand, Rosemary Grabs, Constantin Polychronakos
J. Med. Genet. 2007 44: 670 -672; published online before print as 10.1136/jmg.2007.050971 [Abstract] [Full text] [PDF] [Request Permissions]