Connective tissue disease

Linkage mapping of systemic lupus erythematosus (SLE) in Finnish families multiply affected by SLE
S Koskenmies, P Lahermo, H Julkunen, V Ollikainen, J Kere, E Widén

Journal of Medical Genetics Jan 2004, 41 (1) e2-e5; DOI: 10.1136/jmg.2003.009977
Renoprotective efficacy of renin–angiotensin inhibitors in IgA nephropathy is influenced by ACE A2350G polymorphism
I Narita, S Goto, N Saito, J Song, K Omori, D Kondo, M Sakatsume, F Gejyo

Journal of Medical Genetics Dec 2003, 40 (12) e130; DOI: 10.1136/jmg.40.12.e130
Short-limbed dwarfism with bowing, combined immune deficiency, and late onset aplastic anaemia caused by novel mutations in the RMPR gene
T W Kuijpers, M Ridanpää, M Peters, I de Boer, J M J J Vossen, S T Pals, I Kaitila, R C M Hennekam

Journal of Medical Genetics Oct 2003, 40 (10) 761-766; DOI: 10.1136/jmg.40.10.761
Evaluation of genotype-phenotype correlations in neurofibromatosis type 1
B Castle, M E Baser, S M Huson, D N Cooper, M Upadhyaya

Journal of Medical Genetics Oct 2003, 40 (10) e109; DOI: 10.1136/jmg.40.10.e109
Identification of eight novel VEGFR-3 mutations in families with primary congenital lymphoedema
A L Evans, R Bell, G Brice, P Comeglio, C Lipede, S Jeffery, P Mortimer, M Sarfarazi, A H Child

Journal of Medical Genetics Sep 2003, 40 (9) 697-703; DOI: 10.1136/jmg.40.9.697
Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes
A Sarkozy, E Conti, D Seripa, M C Digilio, N Grifone, C Tandoi, V M Fazio, V Di Ciommo, B Marino, A Pizzuti, B Dallapiccola

Journal of Medical Genetics Sep 2003, 40 (9) 704-708; DOI: 10.1136/jmg.40.9.704
Mapping of a de novo unequal crossover causing a deletion of the steroid 21-hydroxylase (CYP21A2) gene and a non-functional hybrid tenascin-X (TNXB) gene
P F J Koppens, H J M Smeets, I J de Wijs, H J Degenhart

Journal of Medical Genetics May 2003, 40 (5) e53; DOI: 10.1136/jmg.40.5.e53
Studies on the pathogenesis of Costello syndrome
G M S Mancini, O P van Diggelen, W J Kleijer, M Di Rocco, V Farina, M Yuksel-Apak, H Kayserili, D J J Halley

Journal of Medical Genetics Apr 2003, 40 (4) e37; DOI: 10.1136/jmg.40.4.e37
Sanfilippo syndrome type D: identification of the first mutation in the N-acetylglucosamine-6-sulphatase gene
C E Beesley, D Burke, M Jackson, A Vellodi, B G Winchester, E P Young

Journal of Medical Genetics Mar 2003, 40 (3) 192-194; DOI: 10.1136/jmg.40.3.192
Acrocapitofemoral dysplasia: an autosomal recessive skeletal dysplasia with cone shaped epiphyses in the hands and hips
G R Mortier, P P G Kramer, A Giedion, F A Beemer

Journal of Medical Genetics Mar 2003, 40 (3) 201-207; DOI: 10.1136/jmg.40.3.201

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