CLINICAL

Transient neonatal diabetes, a disorder of imprinting
I K Temple, J P H Shield

Journal of Medical Genetics Dec 2002, 39 (12) 872-875; DOI: 10.1136/jmg.39.12.872
Maternal uniparental disomy for chromosome 14 in a boy with a normal karyotype
Roel Hordijk, Henk Wierenga, Hans Scheffer, Beike Leegte, Robert M W Hofstra, Irene Stolte-Dijkstra

Journal of Medical Genetics Oct 1999, 36 (10) 782-785; DOI: 10.1136/jmg.36.10.782
The twisting tale of woolly hair: a trait with many causes
Yuval Ramot, Abraham Zlotogorski

Journal of Medical Genetics Apr 2015, 52 (4) 217-223; DOI: 10.1136/jmedgenet-2014-102630
A systematic review of associated structural and chromosomal defects in oral clefts: when is prenatal genetic analysis indicated?
Wies Maarse, Anna Maria Rozendaal, Eva Pajkrt, Christl Vermeij-Keers, Aebele Barber Mink van der Molen, Marie-José Henriëtte van den Boogaard

Journal of Medical Genetics Aug 2012, 49 (8) 490-498; DOI: 10.1136/jmedgenet-2012-101013
In vitro splicing analysis showed that availability of a cryptic splice site is not a determinant for alternative splicing patterns caused by +1G→A mutations in introns of the dystrophin gene
Y Habara, Y Takeshima, H Awano, Y Okizuka, Z Zhang, K Saiki, M Yagi, M Matsuo

Journal of Medical Genetics Aug 2009, 46 (8) 542-547; DOI: 10.1136/jmg.2008.061259
Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families
Kim Hynes, Patrick Tarpey, Leanne M Dibbens, Marta A Bayly, Samuel F Berkovic, Raffaella Smith, Zahyia Al Raisi, Samantha J Turner, Natasha J Brown, Tarishi D Desai, Eric Haan, Gillian Turner, John Christodoulou, Helen Leonard, Deepak Gill, Michael R Stratton, Jozef Gecz, Ingrid E Scheffer

Journal of Medical Genetics Mar 2010, 47 (3) 211-216; DOI: 10.1136/jmg.2009.068817
A new face of Borjeson–Forssman–Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype
Christiane Zweier, Cornelia Kraus, Louise Brueton, Trevor Cole, Franziska Degenhardt, Hartmut Engels, Gabriele Gillessen-Kaesbach, Luitgard Graul-Neumann, Denise Horn, Juliane Hoyer, Walter Just, Anita Rauch, André Reis, Bernd Wollnik, Michael Zeschnigk, Hermann-Josef Lüdecke, Dagmar Wieczorek

Journal of Medical Genetics Dec 2013, 50 (12) 838-847; DOI: 10.1136/jmedgenet-2013-101918
Wide spectrum of desmosomal mutations in Danish patients with arrhythmogenic right ventricular cardiomyopathy
A H Christensen, M Benn, H Bundgaard, A Tybjærg-Hansen, S Haunso, J H Svendsen

Journal of Medical Genetics Nov 2010, 47 (11) 736-744; DOI: 10.1136/jmg.2010.077891
Genetic variants of NHEJ DNA ligase IV can affect the risk of developing multiple myeloma, a tumour characterised by aberrant class switch recombination
P L Roddam, S Rollinson, M O’Driscoll, P A Jeggo, A Jack, G J Morgan

Journal of Medical Genetics Dec 2002, 39 (12) 900-905; DOI: 10.1136/jmg.39.12.900
Sex differences in reproductive fitness contribute to preferential maternal transmission of 22q11.2 deletions
Gregory Costain, Eva W C Chow, Candice K Silversides, Anne S Bassett

Journal of Medical Genetics Dec 2011, 48 (12) 819-824; DOI: 10.1136/jmedgenet-2011-100440

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