Special collections

Mutational spectrum of NSDHL in CHILD syndrome
D Bornholdt, A König, R Happle, L Leveleki, M Bittar, R Danarti, A Vahlquist, W Tilgen, U Reinhold, A Poiares Baptista, É Grosshans, P Vabres, S Niiyama, K Sasaoka, T Tanaka, A L Meiss, P A Treadwell, D Lambert, F Camacho, K-H Grzeschik

Journal of Medical Genetics Feb 2005, 42 (2) e17; DOI: 10.1136/jmg.2004.024448
First occurrence of aprosencephaly/atelencephaly and holoprosencephaly in a family with a SIX3 gene mutation and phenotype/genotype correlation in our series of SIX3 mutations
L Pasquier, C Dubourg, M Gonzales, L Lazaro, V David, S Odent, F Encha-Razavi

Journal of Medical Genetics Jan 2005, 42 (1) e4; DOI: 10.1136/jmg.2004.023416
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

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