Dermatology

Citations 11-20 of 185 total displayed.

Letters to JMG
A missense mutation in PTCH2 underlies dominantly inherited NBCCS in a Chinese family

Z Fan, J Li, J Du, H Zhang, Y Shen, C-Y Wang, S Wang
J. Med. Genet. 2008 45: 303 -308; published online before print as 10.1136/jmg.2007.055343 [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
Myosin IXB gene region and gluten intolerance: linkage to coeliac disease and a putative dermatitis herpetiformis association

L L E Koskinen, I R Korponay-Szabo, K Viiri, K Juuti-Uusitalo, K Kaukinen, K Lindfors, K Mustalahti, K Kurppa, R Ádány, Z Pocsai, G Széles, E Einarsdottir, C Wijmenga, M Mäki, J Partanen, J Kere, P Saavalainen
J. Med. Genet. 2008 45: 222 -227; published online before print as 10.1136/jmg.2007.053991 [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendices ]  

Letters to JMG
Further delineation of cardio-facio-cutaneous syndrome: clinical features of 38 individuals with proven mutations

C M Armour, J E Allanson
J. Med. Genet. 2008 45: 249 -254; published online before print as 10.1136/jmg.2007.054460 [Abstract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness

E A de Zwart-Storm, H Hamm, J Stoevesandt, P M Steijlen, P E Martin, M van Geel, M A M van Steensel
J. Med. Genet. 2008 45: 161 -166; published online before print as 10.1136/jmg.2007.052332 [Abstract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
Psoriasis is associated with pleiotropic susceptibility loci identified in type II diabetes and Crohn disease

N Wolf, M Quaranta, N J Prescott, M Allen, R Smith, A D Burden, J Worthington, C E M Griffiths, C G Mathew, J N Barker, F Capon, R C Trembath
J. Med. Genet. 2008 45: 114 -116; published online before print as 10.1136/jmg.2007.053595 [Abstract] [Full text] [PDF] [Request Permissions]  

Review
Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes

P de Bie, P Muller, C Wijmenga, L W J Klomp
J. Med. Genet. 2007 44: 673 -688; published online before print as 10.1136/jmg.2007.052746 [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
Congenital ichthyosis: mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis

J Dahlqvist, J Klar, I Hausser, I Anton-Lamprecht, M Hellström Pigg, T Gedde-Dahl, Jr, A Gånemo, A Vahlquist, N Dahl
J. Med. Genet. 2007 44: 615 -620; published online before print as 10.1136/jmg.2007.050542 [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
Mutation detection in the ABCC6 gene and genotype–phenotype analysis in a large international case series affected by pseudoxanthoma elasticum

Ellen G Pfendner, Olivier M Vanakker, Sharon F Terry, Sophia Vourthis, Patricia E McAndrew, Monica R McClain, Sarah Fratta, Anna-Susan Marais, Susan Hariri, Paul J Coucke, Michele Ramsay, Denis Viljoen, Patrick F Terry, Anne De Paepe, Jouni Uitto, Lionel G Bercovitch
J. Med. Genet. 2007 44: 621 -628; published online before print as 10.1136/jmg.2007.051094 [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendices ]  

Letters to JMG
Phenotypic diversity of Menkes disease in mottled mice is associated with defects in localisation and trafficking of the ATP7A protein

Byung-Eun Kim, Michael J Petris
J. Med. Genet. 2007 44: 641 -646; published online before print as 10.1136/jmg.2007.049627 [Abstract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome

Martin Zenker, Denise Horn, Dagmar Wieczorek, Judith Allanson, Silke Pauli, Ineke van der Burgt, Helmuth-Guenther Doerr, Harald Gaspar, Michael Hofbeck, Gabriele Gillessen-Kaesbach, Andreas Koch, Peter Meinecke, Stefan Mundlos, Anja Nowka, Anita Rauch, Silke Reif, Christian von Schnakenburg, Heide Seidel, Lars-Erik Wehner, Christiane Zweier, Susanne Bauhuber, Verena Matejas, Christian P Kratz, Christoph Thomas, Kerstin Kutsche
J. Med. Genet. 2007 44: 651 -656; published online before print as 10.1136/jmg.2007.051276 [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendix ]