Connective tissue disease

Phenome-wide association study maps new diseases to the human major histocompatibility complex region
Jixia Liu, Zhan Ye, John G Mayer, Brian A Hoch, Clayton Green, Loren Rolak, Christopher Cold, Seik-Soon Khor, Xiuwen Zheng, Taku Miyagawa, Katsushi Tokunaga, Murray H Brilliant, Scott J Hebbring

Journal of Medical Genetics Oct 2016, 53 (10) 681-689; DOI: 10.1136/jmedgenet-2016-103867
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

Journal of Medical Genetics Jun 2008, 45 (6) 362-369; DOI: 10.1136/jmg.2007.055012
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

Journal of Medical Genetics Oct 2009, 46 (10) 657-662; DOI: 10.1136/jmg.2009.066456
Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutations
Kimberly A Aldinger, Nancy J Mendelsohn, Brian HY Chung, Wenjuan Zhang, Daniel H Cohn, Bridget Fernandez, Fowzan S Alkuraya, William B Dobyns, Cynthia J Curry

Journal of Medical Genetics Jun 2016, 53 (6) 427-430; DOI: 10.1136/jmedgenet-2015-103476
Clinical course of sly syndrome (mucopolysaccharidosis type VII)
Adriana M Montaño, Ngu Lock-Hock, Robert D Steiner, Brett H Graham, Marina Szlago, Robert Greenstein, Mercedes Pineda, Antonio Gonzalez-Meneses, Mahmut Çoker, Dennis Bartholomew, Mark S Sands, Raymond Wang, Roberto Giugliani, Alfons Macaya, Gregory Pastores, Anastasia K Ketko, Fatih Ezgü, Akemi Tanaka, Laila Arash, Michael Beck, Rena E Falk, Kaustuv Bhattacharya, José Franco, Klane K White, Grant A Mitchell, Loreta Cimbalistiene, Max Holtz, William S Sly

Journal of Medical Genetics Jun 2016, 53 (6) 403-418; DOI: 10.1136/jmedgenet-2015-103322
Autism traits in the RASopathies
Brigid Adviento, Iris L Corbin, Felicia Widjaja, Guillaume Desachy, Nicole Enrique, Tena Rosser, Susan Risi, Elysa J Marco, Robert L Hendren, Carrie E Bearden, Katherine A Rauen, Lauren A Weiss

Journal of Medical Genetics Jan 2014, 51 (1) 10-20; DOI: 10.1136/jmedgenet-2013-101951
Paraspinal neurofibromas and hypertrophic neuropathy in Noonan syndrome with multiple lentigines
Erin Conboy, Radhika Dhamija, Margaret Wang, Jing Xie, P James Dyck, Alina G Bridges, Robert J Spinner, Amy C Clayton, Robert E Watson, Ludwine Messiaen, Dusica Babovic-Vuksanovic

Journal of Medical Genetics Feb 2016, 53 (2) 123-126; DOI: 10.1136/jmedgenet-2015-103177
A variant of osteogenesis imperfecta type IV with resolving kyphomelia is caused by a novel COL1A2 mutation
M T Johnson, S Morrison, S Heeger, S Mooney, P H Byers, N H Robin

Journal of Medical Genetics Feb 2002, 39 (2) 128-132; DOI: 10.1136/jmg.39.2.128
Mild brachydactyly type A1 maps to chromosome 2q35-q36 and is caused by a novel IHH mutation in a three generation family
N Giordano, L Gennari, M Bruttini, F Mari, I Meloni, C Baldi, S Capoccia, S Geraci, D Merlotti, A Amendola, G Martini, R Nuti, C Gennari, A Renieri

Journal of Medical Genetics Feb 2003, 40 (2) 132-135; DOI: 10.1136/jmg.40.2.132
Shared decision making and non-directiveness in genetic counselling
Glyn Elwyn, Jonathon Gray, Angus Clarke

Journal of Medical Genetics Feb 2000, 37 (2) 135-138; DOI: 10.1136/jmg.37.2.135

Main menu

Connective tissue disease

Pages

Log in using your username and password

Main menu

Log in using your username and password

You are here

Connective tissue disease

Pages