Journal of Medical Genetics: 49 (9)

Chromosomal rearrangements

Review: Clinical significance of copy number variations in the 11p15.5 imprinting control regions: new cases and review of the literature (26 July, 2012)
Matthias Begemann, Sabrina Spengler, Magdalena Gogiel, Ute Grasshoff, Michael Bonin, Regina C Betz, Andreas Dufke, Isabel Spier, Thomas Eggermann

Review: Gene expression as a quantitative trait: what about translation? (11 September, 2012)
Constantin Polychronakos
Short report:
Closing the case of APOE in multiple sclerosis: no association with disease risk in over 29 000 subjects
(11 September, 2012)
Christina M Lill, Tian Liu, Brit-Maren M Schjeide, Johannes T Roehr, Denis A Akkad, Vincent Damotte, Antonio Alcina, Miguel A Ortiz, Rafa Arroyo, Aitzkoa Lopez de Lapuente, Paul Blaschke, Alexander Winkelmann, Lisa-Ann Gerdes, Felix Luessi, Oscar Fernadez, Guillermo Izquierdo, Alfredo Antigüedad, Sabine Hoffjan, Isabelle Cournu-Rebeix, Silvana Gromöller, Hans Faber, Maria Liebsch, Esther Meissner, Coralie Chanvillard, Emmanuel Touze, Fernando Pico, Philippe Corcia, Thomas Dörner, Elisabeth Steinhagen-Thiessen, Lars Baeckman, Hauke R Heekeren, Shu-Chen Li, Ulman Lindenberger, Andrew Chan, Hans-Peter Hartung, Orhan Aktas, Peter Lohse, Tania Kümpfel, Christian Kubisch, Joerg T Epplen, Uwe K Zettl, Bertrand Fontaine, Koen Vandenbroeck, Fuencisla Matesanz, Elena Urcelay, Lars Bertram, Frauke Zipp

Original article:
Exome sequencing identifies a COL14A1 mutation in a large Chinese pedigree with punctate palmoplantar keratoderma
(11 September, 2012)
Bi-Rong Guo, Xin Zhang, Gang Chen, Jian-Guo Zhang, Liang-Dan Sun, Wei-dong Du, Qing Zhang, Yong Cui, Jun Zhu, Xian-Fa Tang, Ruo Xiao, Yuan Liu, Min Li, Hua-Yang Tang, Xu Yang, Hui Cheng, Ming Li, Min Gao, Ping Li, Jian-Bo Wang, Feng-Ping Xu, Xian-Bo Zuo, Xiao-Dong Zheng, Xiao-Guang Zhang, Lin Yang, Jian-Jun Liu, Jun Wang, Sen Yang, Xue-Jun Zhang

Original article:
Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency
(11 September, 2012)
Charlotte L Alston, James E Davison, Francesca Meloni, Francois H van der Westhuizen, Langping He, Hue-Tran Hornig-Do, Andrew C Peet, Paul Gissen, Paola Goffrini, Ileana Ferrero, Evangeline Wassmer, Robert McFarland, Robert W Taylor

Short report: Deletion of the 3q26 region including the EVI1 and MDS1 genes in a neonate with congenital thrombocytopenia and subsequent aplastic anaemia (11 September, 2012)
Maartje Nielsen, Clementien L Vermont, Emmelien Aten, Claudia A L Ruivenkamp, Femke van Herrewegen, Gijs W E Santen, Martijn H Breuning

Original article: Prediction of breast cancer risk by genetic risk factors, overall and by hormone receptor status (11 September, 2012)
Anika Hüsing, Federico Canzian, Lars Beckmann, Montserrat Garcia-Closas, W Ryan Diver, Michael J Thun, Christine D Berg, Robert N Hoover, Regina G Ziegler, Jonine D Figueroa, Claudine Isaacs, Anja Olsen, Vivian Viallon, Heiner Boeing, Giovanna Masala, Dimitrios Trichopoulos, Petra H M Peeters, Eiliv Lund, Eva Ardanaz, Kay-Tee Khaw, Per Lenner, Laurence N Kolonel, Daniel O Stram, Loïc Le Marchand, Catherine A McCarty, Julie E Buring, I-Min Lee, Shumin Zhang, Sara Lindström, Susan E Hankinson, Elio Riboli, David J Hunter, Brian E Henderson, Stephen J Chanock, Christopher A Haiman, Peter Kraft, Rudolf Kaaks