Dermatology

A germline mutation in KIT in familial diffuse cutaneous mastocytosis
X Tang, M Boxer, A Drummond, P Ogston, M Hodgins, A D Burden

Journal of Medical Genetics Jun 2004, 41 (6) e88; DOI: 10.1136/jmg.2003.015156
New PPARG mutation leads to lipodystrophy and loss of protein function that is partially restored by a synthetic ligand
Angelika Lüdtke, Janine Buettner, Hartmut H-J Schmidt, Howard J Worman

Journal of Medical Genetics Sep 2007, 44 (9) e88; DOI: 10.1136/jmg.2007.050567
Germline mutations of the E-cadherin(CDH1) and TP53 genes, rather than of RUNX3 and HPP1, contribute to genetic predisposition in German gastric cancer patients
G Keller, H Vogelsang, I Becker, S Plaschke, K Ott, G Suriano, A R Mateus, R Seruca, K Biedermann, D Huntsman, C Döring, E Holinski-Feder, A Neutzling, J R Siewert, H Höfler

Journal of Medical Genetics Jun 2004, 41 (6) e89; DOI: 10.1136/jmg.2003.015594
De novo germline PTEN mutation in a man with Lhermitte-Duclos disease which arose on the paternal chromosome and was transmitted to his child with polydactyly and Wormian bones
M B Delatycki, A Danks, A Churchyard, X-P Zhou, C Eng

Journal of Medical Genetics Aug 2003, 40 (8) e92; DOI: 10.1136/jmg.40.8.e92
Met>Val substitution in a highly conserved region of the pro-α1(I) collagen C-propeptide domain causes alternative splicing and a mild EDS/OI phenotype
S Symoens, L Nuytinck, E Legius, F Malfait, P J Coucke, A De Paepe

Journal of Medical Genetics Jul 2004, 41 (7) e96; DOI: 10.1136/jmg.2003.014589
A novel GATA4 mutation completely segregated with atrial septal defect in a large Japanese family
A Okubo, O Miyoshi, K Baba, M Takagi, K Tsukamoto, A Kinoshita, K Yoshiura, T Kishino, T Ohta, N Niikawa, N Matsumoto

Journal of Medical Genetics Jul 2004, 41 (7) e97; DOI: 10.1136/jmg.2004.018895
A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A
Mark A Corbett, Tracy Dudding-Byth, Patricia A Crock, Elena Botta, Louise M Christie, Tiziana Nardo, Giuseppina Caligiuri, Lynne Hobson, Jackie Boyle, Albert Mansour, Kathryn L Friend, Jo Crawford, Graeme Jackson, Lucianne Vandeleur, Anna Hackett, Patrick Tarpey, Michael R Stratton, Gillian Turner, Jozef Gécz, Michael Field

Journal of Medical Genetics Apr 2015, 52 (4) 269-274; DOI: 10.1136/jmedgenet-2014-102418
High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome
Virginie Bubien, Françoise Bonnet, Veronique Brouste, Stéphanie Hoppe, Emmanuelle Barouk-Simonet, Albert David, Patrick Edery, Armand Bottani, Valérie Layet, Olivier Caron, Brigitte Gilbert-Dussardier, Capucine Delnatte, Catherine Dugast, Jean-Pierre Fricker, Dominique Bonneau, Nicolas Sevenet, Michel Longy, Frédéric Caux, French Cowden Disease Network

Journal of Medical Genetics Apr 2013, 50 (4) 255-263; DOI: 10.1136/jmedgenet-2012-101339
Efficiency of translation termination in humans is highly dependent upon nucleotides in the neighbourhood of a (premature) termination codon
Frederic Pacho, Giovanna Zambruno, Valentina Calabresi, Dimitra Kiritsi, Holm Schneider

Journal of Medical Genetics Sep 2011, 48 (9) 640-644; DOI: 10.1136/jmg.2011.089615
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

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