Journal of Medical Genetics: 46 (9)

Review

Epigenetic analysis of the critical region I for premature ovarian failure: demonstration of a highly heterochromatic domain on the long arm of the mammalian X chromosome (15 July, 2008) Free
F Rizzolio, T Pramparo, C Sala, O Zuffardi, L De Santis, E Rabellotti, F Calzi, F Fusi, R Bellazzi, D Toniolo
Screening for familial ovarian cancer: poor survival of BRCA1/2 related cancers (15 April, 2008)
D G Evans, K N Gaarenstroom, D Stirling, A Shenton, L Maehle, A Dørum, M Steel, F Lalloo, J Apold, M E Porteous, H F A Vasen, C J van Asperen, P Moller
Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype
(4 March, 2009)
T Kleefstra, W A van Zelst-Stams, W M Nillesen, V Cormier-Daire, G Houge, N Foulds, M van Dooren, M H Willemsen, R Pfundt, A Turner, M Wilson, J McGaughran, A Rauch, M Zenker, M P Adam, M Innes, C Davies, A González-Meneses López, R Casalone, A Weber, L A Brueton, A Delicado Navarro, M Palomares Bralo, H Venselaar, S P A Stegmann, H G Yntema, H van Bokhoven, H G Brunner
Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations
(18 June, 2009)
V Tran-Fadulu, H Pannu, D H Kim, G W Vick, C M Lonsford, A L Lafont, C Boccalandro, S Smart, K L Peterson, J Zenger Hain, M C Willing, J S Coselli, S A LeMaire, C Ahn, P H Byers, D M Milewicz

A genome-wide association study suggests that a locus within the ataxin 2 binding protein 1 gene is associated with hand osteoarthritis: the Treat-OA consortium (8 June, 2009)
G Zhai, J B J van Meurs, G Livshits, I Meulenbelt, A M Valdes, N Soranzo, D Hart, F Zhang, B S Kato, J B Richards, F M K Williams, M Inouye, M Kloppenburg, P Deloukas, E Slagboom, A Uitterlinden, T D Spector

Association of IL18RAP and CCR3 with coeliac disease in the Spanish population
(18 June, 2009)
B Dema, A Martínez, M Fernández-Arquero, C Maluenda, I Polanco, E G de la Concha, E Urcelay, C Núñez
Differences in SMN1 allele frequencies among ethnic groups within North America
(21 July, 2009)
B C Hendrickson, C Donohoe, V R Akmaev, E A Sugarman, P Labrousse, L Boguslavskiy, K Flynn, E M Rohlfs, A Walker, B Allitto, C Sears, T Scholl

ADVIRC is caused by distinct mutations in BEST1 that alter pre-mRNA splicing
(8 July, 2008)
R Burgess, R E MacLaren, A E Davidson, J E Urquhart, G E Holder, A G Robson, A T Moore, R O’ Keefe, G C M Black, F D C Manson
Genomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de Lange (3 December, 2008)
J Yan, F Zhang, E Brundage, A Scheuerle, B Lanpher, R P Erickson, Z Powis, H B Robinson, P L Trapane, D Stachiw-Hietpas, K M Keppler-Noreuil, S R Lalani, T Sahoo, A C Chinault, A Patel, S W Cheung, J R Lupski
19q13.11 deletion syndrome: a novel clinically recognisable genetic condition identified by array comparative genomic hybridisation (6 January, 2009)
V Malan, O Raoul, H V Firth, G Royer, C Turleau, A Bernheim, L Willatt, A Munnich, M Vekemans, S Lyonnet, V Cormier-Daire, L Colleaux