Diagnostics

Direct contact in inviting high-risk members of hereditary colon cancer families to genetic counselling and DNA testing
K Aktan-Collan, A Haukkala, K Pylvänäinen, H J Järvinen, L A Aaltonen, P Peltomäki, E Rantanen, H Kääriäinen, J-P Mecklin

Journal of Medical Genetics Nov 2007, 44 (11) 732-738; DOI: 10.1136/jmg.2007.051581
The T/G−13915 variant upstream of the lactase gene (LCT) is the founder allele of lactase persistence in an urban Saudi population
F Imtiaz, E Savilahti, A Sarnesto, D Trabzuni, K Al-Kahtani, I Kagevi, M S Rashed, B F Meyer, I Järvelä

Journal of Medical Genetics Oct 2007, 44 (10) e89; DOI: 10.1136/jmg.2007.051631
The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management
Wen-Hann Tan, Hagit N Baris, Patricia E Burrows, Caroline D Robson, Ahmad I Alomari, John B Mulliken, Steven J Fishman, Mira B Irons

Journal of Medical Genetics Sep 2007, 44 (9) 594-602; DOI: 10.1136/jmg.2007.048934
Women with neurofibromatosis 1 are at a moderately increased risk of developing breast cancer and should be considered for early screening
S Sharif, A Moran, S M Huson, R Iddenden, A Shenton, E Howard, D G R Evans

Journal of Medical Genetics Aug 2007, 44 (8) 481-484; DOI: 10.1136/jmg.2007.049346
Coordinated transcriptional regulation patterns associated with infertility phenotypes in men
Peter J I Ellis, Robert A Furlong, Sarah J Conner, Jackson Kirkman-Brown, Masoud Afnan, Christopher Barratt, Darren K Griffin, Nabeel A Affara

Journal of Medical Genetics Aug 2007, 44 (8) 498-508; DOI: 10.1136/jmg.2007.049650
Biallelic mutation of MSH2 in primary human cells is associated with sensitivity to irradiation and altered RAD51 foci kinetics
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

Journal of Medical Genetics Aug 2007, 44 (8) 516-520; DOI: 10.1136/jmg.2006.048660
Familial 4.3 Mb duplication of 21q22 sheds new light on the Down syndrome critical region
Anne Ronan, Kerry Fagan, Louise Christie, Jeffrey Conroy, Norma J Nowak, Gillian Turner

Journal of Medical Genetics Jul 2007, 44 (7) 448-451; DOI: 10.1136/jmg.2006.047373
Genetic enhancement of cognition in a kindred with cone–rod dystrophy due to RIMS1 mutation
Sanjay M Sisodiya, Pamela J Thompson, Anna Need, Sarah E Harris, Michael E Weale, Susan E Wilkie, Michel Michaelides, Samantha L Free, Nicole Walley, Curtis Gumbs, Dianne Gerrelli, Piers Ruddle, Lawrence J Whalley, John M Starr, David M Hunt, David B Goldstein, Ian J Deary, Anthony T Moore

Journal of Medical Genetics Jun 2007, 44 (6) 373-380; DOI: 10.1136/jmg.2006.047407
Chromosome 11 segmental paternal isodisomy in amniocytes from two fetuses with omphalocoele: new highlights on phenotype–genotype correlations in Beckwith–Wiedemann syndrome
F R Grati, L Turolla, P D’Ajello, A Ruggeri, M Miozzo, G Bracalente, D Baldo, L Laurino, R Boldorini, E Frate, N Surico, L Larizza, F Maggi, G Simoni

Journal of Medical Genetics Apr 2007, 44 (4) 257-263; DOI: 10.1136/jmg.2006.046854
Associations of catalase gene polymorphisms with bone mineral density and bone turnover markers in postmenopausal women
Bermseok Oh, Shin-Yoon Kim, Duk Jae Kim, Jong Yong Lee, Jong-Keuk Lee, Kuchan Kimm, Byung Lae Park, Hyoung Doo Shin, Tae-Ho Kim, Eui Kyun Park, Jung-Min Koh, Ghi Su Kim

Journal of Medical Genetics Jan 2007, 44 (1) e62; DOI: 10.1136/jmg.2006.042259

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