Dermatology

Molecular mechanisms of phenotypic variability in junctional epidermolysis bullosa
Dimitra Kiritsi, Johannes S Kern, Hauke Schumann, Jürgen Kohlhase, Cristina Has, Leena Bruckner-Tuderman

Journal of Medical Genetics Jul 2011, 48 (7) 450-457; DOI: 10.1136/jmg.2010.086751
Gastrointestinal polyps in McCune Albright syndrome
Margaret Zacharin, Anurag Bajpai, Chung Wo Chow, Anthony Catto-Smith, Constantine Stratakis, Michelle W Wong, Rodney Scott

Journal of Medical Genetics Jul 2011, 48 (7) 458-461; DOI: 10.1136/jmg.2010.086330
Genome-wide linkage and association mapping identify susceptibility alleles in ABCC4 for Kawasaki disease
Chiea Chuen Khor, Sonia Davila, Chisato Shimizu, Stephanie Sheng, Tomoyo Matsubara, Yasuo Suzuki, Jane W Newburger, Annette Baker, David Burgner, Willemijn Breunis, Taco Kuijpers, Victoria J Wright, Michael Levin, Martin L Hibberd, Jane C Burns, on behalf of the US and International Kawasaki Disease Genetics Consortia

Journal of Medical Genetics Jul 2011, 48 (7) 467-472; DOI: 10.1136/jmg.2010.086611
Sweating ability and genotype in individuals with X-linked hypohidrotic ectodermal dysplasia
Holm Schneider, Johanna Hammersen, Sabine Preisler-Adams, Kenneth Huttner, Wolfgang Rascher, Axel Bohring

Journal of Medical Genetics Jun 2011, 48 (6) 426-432; DOI: 10.1136/jmg.2010.084012
Decreased dyskerin levels as a mechanism of telomere shortening in X-linked dyskeratosis congenita
Erin M Parry, Jonathan K Alder, Stella S Lee, John A Phillips, James E Loyd, Priya Duggal, Mary Armanios

Journal of Medical Genetics May 2011, 48 (5) 327-333; DOI: 10.1136/jmg.2010.085100
Melanoma risk for CDKN2A mutation carriers who are relatives of population-based case carriers in Australia and the UK
Anne E Cust, Mark Harland, Enes Makalic, Daniel Schmidt, James G Dowty, Joanne F Aitken, Chantelle Agha-Hamilton, Bruce K Armstrong, Jenny H Barrett, May Chan, Yu-Mei Chang, Joanne Gascoyne, Graham G Giles, Elizabeth A Holland, Richard F Kefford, Kairen Kukalizch, Johanna Lowery, Juliette A Randerson-Moor, Helen Schmid, Claire F Taylor, Linda Whitaker, John L Hopper, Julia A Newton-Bishop, Graham J Mann, D Timothy Bishop, Mark A Jenkins

Journal of Medical Genetics Apr 2011, 48 (4) 266-272; DOI: 10.1136/jmg.2010.086538
Sequence analysis of the shelterin telomere protection complex genes in dyskeratosis congenita
Sharon A Savage, Neelam Giri, Lea Jessop, Kristen Pike, Teri Plona, Laurie Burdett, Blanche P Alter

Journal of Medical Genetics Apr 2011, 48 (4) 285-288; DOI: 10.1136/jmg.2010.082727
The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen
Peter C van den Akker, Jemima E Mellerio, Anna E Martinez, Lu Liu, Rowdy Meijer, Patricia J C Dopping-Hepenstal, Anthonie J van Essen, Hans Scheffer, Robert M W Hofstra, John A McGrath, Marcel F Jonkman

Journal of Medical Genetics Mar 2011, 48 (3) 160-167; DOI: 10.1136/jmg.2010.082230
Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repair
Porcia T Bradford, Alisa M Goldstein, Deborah Tamura, Sikandar G Khan, Takahiro Ueda, Jennifer Boyle, Kyu-Seon Oh, Kyoko Imoto, Hiroki Inui, Shin-Ichi Moriwaki, Steffen Emmert, Kristen M Pike, Arati Raziuddin, Teri M Plona, John J DiGiovanna, Margaret A Tucker, Kenneth H Kraemer

Journal of Medical Genetics Mar 2011, 48 (3) 168-176; DOI: 10.1136/jmg.2010.083022
Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum
Denise P Cavalcanti, Celine Huber, Kim-Hanh Le Quan Sang, Geneviève Baujat, Felicity Collins, Anne-Lise Delezoide, Nathalie Dagoneau, Martine Le Merrer, Jelena Martinovic, Marcos Fernando S Mello, Michel Vekemans, Arnold Munnich, Valerie Cormier-Daire

Journal of Medical Genetics Feb 2011, 48 (2) 88-92; DOI: 10.1136/jmg.2009.069468

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