Journal of Medical Genetics: 44 (8)

Correspondence

Women with neurofibromatosis 1 are at a moderately increased risk of developing breast cancer and should be considered for early screening (16 March, 2007)
S Sharif, A Moran, S M Huson, R Iddenden, A Shenton, E Howard, D G R Evans
The novel IFNGR1 mutation 774del4 produces a truncated form of interferon-γ receptor 1 and has a dominant-negative effect on interferon-γ signal transduction
(18 May, 2007) Free
Satoshi Okada, Nobutsune Ishikawa, Ken’ichiro Shirao, Hiroshi Kawaguchi, Miyuki Tsumura, Yoshinori Ohno, Shin’ichiro Yasunaga, Motoaki Ohtsubo, Yoshihiro Takihara, Masao Kobayashi
Differences in ATP7A gene expression underlie intrafamilial variability in Menkes disease/occipital horn syndrome (11 May, 2007)
Anthony Donsante, Jingrong Tang, Sarah C Godwin, Courtney S Holmes, David S Goldstein, Alexander Bassuk, Stephen G Kaler
Coordinated transcriptional regulation patterns associated with infertility phenotypes in men (11 May, 2007)
Peter J I Ellis, Robert A Furlong, Sarah J Conner, Jackson Kirkman-Brown, Masoud Afnan, Christopher Barratt, Darren K Griffin, Nabeel A Affara
A functional CD86 polymorphism associated with asthma and related allergic disorders (18 May, 2007)
Thomas Juhl Corydon, Annette Haagerup, Thomas Gryesten Jensen, Helle Glud Binderup, Mikkel Steen Petersen, Keld Kaltoft, Jørgen Vestbo, Torben Arvid Kruse, Anders Dupont Børglum

Biallelic mutation of MSH2 in primary human cells is associated with sensitivity to irradiation and altered RAD51 foci kinetics
(4 May, 2007)
J Barwell, L Pangon, S Hodgson, A Georgiou, I Kesterton, T Slade, M Taylor, S J Payne, H Brinkman, J Smythe, N J Sebire, E Solomon, Z Docherty, R Camplejohn, T Homfray, J R Morris

Unexplained autism is frequently associated with low-level mosaic aneuploidy (4 May, 2007)
Y B Yurov, S G Vorsanova, I Y Iourov, I A Demidova, A K Beresheva, V S Kravetz, V V Monakhov, A D Kolotii, V Y Voinova-Ulas, N L Gorbachevskaya
Association of arginase 1 gene polymorphisms with the risk of myocardial infarction and common carotid intima–media thickness (16 March, 2007)
Julie Dumont, Mahmoud Zureik, Dominique Cottel, Michèle Montaye, Pierre Ducimetière, Philippe Amouyel, Thierry Brousseau
Connexin 50 gene on human chromosome 1q21 is associated with schizophrenia in matched case–control and family-based studies (5 April, 2007)
Xingqun Ni, Jose Valente, Maria H Azevedo, Michelle T Pato, Carlos N Pato, James L Kennedy
Genotype–phenotype correlation of 30 patients with Smith-Magenis syndrome (SMS) using comparative genome hybridisation array: cleft palate in SMS is associated with larger deletions (27 April, 2007)
J Andrieux, C Villenet, S Quief, S Lignon, S Geffroy, C Roumier, H de Leersnyder, M-C de Blois, S Manouvrier, B Delobel, B Benzacken, P Bitoun, T Attie-Bitach, S Thomas, S Lyonnet, M Vekemans, J-P Kerckaert
Pregnancy does not influence colonic polyp multiplicity but may modulate upper gastrointestinal disease in patients with FAP (11 May, 2007)
Nirosha Suraweera, Andrew Latchford, Amy McCart, Pauline Rogers, Sarah Spain, Oliver Sieber, Robin Phillips, Ian Tomlinson, Andrew Silver