Special collections

Genetics of the FANCA gene in familial pancreatic cancer
C D Rogers, F J Couch, K Brune, S T Martin, J Philips, K M Murphy, G Petersen, C J Yeo, R H Hruban, M Goggins

Journal of Medical Genetics Dec 2004, 41 (12) e126; DOI: 10.1136/jmg.2004.024851
Low frequency of BMPR2 mutations in a German cohort of patients with sporadic idiopathic pulmonary arterial hypertension
R Koehler, E Grünig, M W Pauciulo, M M Hoeper, H Olschewski, H Wilkens, M Halank, J Winkler, R Ewert, H Bremer, S Kreuscher, B Janssen, W C Nichols

Journal of Medical Genetics Dec 2004, 41 (12) e127; DOI: 10.1136/jmg.2004.023101
No live individual homozygous for a novel endoglin mutation was found in a consanguineous Arab family with hereditary haemorrhagic telangiectasia
A Karabegovic, M Shinawi, U Cymerman, M Letarte

Journal of Medical Genetics Nov 2004, 41 (11) e119; DOI: 10.1136/jmg.2004.022079
SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism
W Borozdin, D Boehm, M Leipoldt, C Wilhelm, W Reardon, J Clayton-Smith, K Becker, H Mühlendyck, R Winter, Ö Giray, F Silan, J Kohlhase

Journal of Medical Genetics Sep 2004, 41 (9) e113; DOI: 10.1136/jmg.2004.019901
Mutation screening of the BARD1 gene: evidence for involvement of the Cys557Ser allele in hereditary susceptibility to breast cancer
S-M Karppinen, K Heikkinen, K Rapakko, R Winqvist

Journal of Medical Genetics Sep 2004, 41 (9) e114; DOI: 10.1136/jmg.2004.020669
Autosomal recessive erythropoietic protoporphyria in the United Kingdom: prevalence and relationship to liver disease
S D Whatley, N G Mason, M Khan, M Zamiri, M N Badminton, W N Missaoui, T A Dailey, H A Dailey, W S Douglas, N J Wainwright, G H Elder

Journal of Medical Genetics Aug 2004, 41 (8) e105; DOI: 10.1136/jmg.2003.016121
A novel mutation in the Connexin 46 gene causes autosomal dominant congenital cataract with incomplete penetrance
K P Burdon, M G Wirth, D A Mackey, I M Russell-Eggitt, J E Craig, J E Elder, J L Dickinson, M M Sale

Journal of Medical Genetics Aug 2004, 41 (8) e106; DOI: 10.1136/jmg.2004.018333
Clinical features of type 2 Stickler syndrome
A V Poulson, J M M Hooymans, A J Richards, P Bearcroft, R Murthy, D M Baguley, J D Scott, M P Snead

Journal of Medical Genetics Aug 2004, 41 (8) e107; DOI: 10.1136/jmg.2004.018382
Expression analysis of an FGFR2 IIIc 5′ splice site mutation (1084+3A→G)
R Kan, S R F Twigg, J Berg, L Wang, F Jin, A O M Wilkie

Journal of Medical Genetics Aug 2004, 41 (8) e108; DOI: 10.1136/jmg.2004.018507
Recurrent 17 bp duplication in PITX3 is primarily associated with posterior polar cataract (CPP4)
V Berry, Z Yang, P K F Addison, P J Francis, A Ionides, G Karan, L Jiang, W Lin, J Hu, R Yang, A Moore, K Zhang, S S Bhattacharya

Journal of Medical Genetics Aug 2004, 41 (8) e109; DOI: 10.1136/jmg.2004.020289

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