Connective tissue disease

Citations 11-20 of 73 total displayed.

Online mutation reports
De novo HRAS and KRAS mutations in two siblings with short stature and neuro-cardio-facio-cutaneous features

Oddmund Søvik, Suzanne Schubbert, Gunnar Houge, Solrun J Steine, Gunnar Norgård, Bernt Engelsen, Pål R Njølstad, Kevin Shannon, Anders Molven
J. Med. Genet. 2007; 44: e84. [Abstract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
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
J. Med. Genet. 2007 44: 459 -462; published online before print as 10.1136/jmg.2007.049270 [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendix ]  

Original articles
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
J. Med. Genet. 2007 44: 314 -321; published online before print as 10.1136/jmg.2006.046185 [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendix ]  

Short reports
Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14

Björn Menten, Karen Buysse, Farah Zahir, Jan Hellemans, Sara J Hamilton, Teresa Costa, Carrie Fagerstrom, George Anadiotis, Daniel Kingsbury, Barbara C McGillivray, Marco A Marra, Jan M Friedman, Frank Speleman, Geert Mortier
J. Med. Genet. 2007 44: 264 -268; published online before print as 10.1136/jmg.2006.047860 [Abstract] [Full text] [PDF] [Request Permissions]  

Short reports
Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations

Martin Zenker, Katarina Lehmann, Anna Leana Schulz, Helmut Barth, Dagmar Hansmann, Rainer Koenig, Rudolf Korinthenberg, Martina Kreiss-Nachtsheim, Peter Meinecke, Susanne Morlot, Stefan Mundlos, Anne S Quante, Salmo Raskin, Dirk Schnabel, Lars-Erik Wehner, Christian P Kratz, Denise Horn, Kerstin Kutsche
J. Med. Genet. 2007 44: 131 -135; published online before print as 10.1136/jmg.2006.046300 [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
Clinical features in a family with an R460H mutation in transforming growth factor ß receptor 2 gene

C Law, D Bunyan, B Castle, L Day, I Simpson, G Westwood, B Keeton
J. Med. Genet. 2006 43: 908 -916; published online before print as 10.1136/jmg.2006.042176 [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
Polymorphisms in the xylosyltransferase genes cause higher serum XT-I activity in patients with pseudoxanthoma elasticum (PXE) and are involved in a severe disease course

S Schön, V Schulz, C Prante, D Hendig, C Szliska, J Kuhn, K Kleesiek, C Götting
J. Med. Genet. 2006 43: 745 -749; published online before print as 10.1136/jmg.2006.040972 [Abstract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
Biochemical screening of type I collagen in osteogenesis imperfecta: detection of glycine substitutions in the amino end of the alpha chains requires supplementation by molecular analysis

W A Cabral, S Milgrom, A D Letocha, E Moriarty, J C Marini
J. Med. Genet. 2006; 43: 685-690. [Abstract] [Full text] [PDF] [Request Permissions]  

Electronic letters
Total absence of the 2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems

F Malfait, S Symoens, P Coucke, L Nunes, S De Almeida, A De Paepe
J. Med. Genet. 2006; 43: e36. [Abstract] [Full text] [PDF] [Request Permissions]  

Short reports
Ehlers-Danlos syndrome and periventricular nodular heterotopia in a Spanish family with a single FLNA mutation

P Gómez-Garre, M Seijo, E Gutiérrez-Delicado, M Castro del Río, C de la Torre, C Gómez-Abad, J Morales-Corraliza, M Puig, J M Serratosa
J. Med. Genet. 2006 43: 232 -237; published online before print as 10.1136/jmg.2004.029173 [Abstract] [Full text] [PDF] [Request Permissions]