Molecular genetics

  • Salbutamol increases survival motor neuron (SMN) transcript levels in leucocytes of spinal muscular atrophy (SMA) patients: relevance for clinical trial design
    Francesco Danilo Tiziano, Rosa Lomastro, Anna Maria Pinto, Sonia Messina, Adele D'Amico, Stefania Fiori, Carla Angelozzi, Marika Pane, Eugenio Mercuri, Enrico Bertini, Giovanni Neri, Christina Brahe
  • A risk prediction algorithm for ovarian cancer incorporating BRCA1, BRCA2, common alleles and other familial effects
    Sarah Jervis, Honglin Song, Andrew Lee, Ed Dicks, Patricia Harrington, Caroline Baynes, Ranjit Manchanda, Douglas F Easton, Ian Jacobs, Paul P D Pharoah, Antonis C Antoniou
  • COA7 (C1orf163/RESA1) mutations associated with mitochondrial leukoencephalopathy and cytochrome c oxidase deficiency
    Anabel Martinez Lyons, Anna Ardissone, Aurelio Reyes, Alan J Robinson, Isabella Moroni, Daniele Ghezzi, Erika Fernandez-Vizarra, Massimo Zeviani
  • Germline RRAS2 mutations are not associated with Noonan syndrome
    John J Ceremsak, Ariel Yu, Emilio Esquivel, Christina Lissewski, Martin Zenker, Mignon L Loh, Elliot Stieglitz
  • Epidermolysis bullosa. II. Type VII collagen mutations and phenotype–genotype correlations in the dystrophic subtypes
    Roslyn Varki, Sara Sadowski, Jouni Uitto, Ellen Pfendner
  • GATA4 sequence variants in patients with congenital heart disease
    A Tomita-Mitchell, C L Maslen, C D Morris, V Garg, E Goldmuntz
  • Exome sequencing identified a missense mutation of EPS8L3 in Marie Unna hereditary hypotrichosis
    Xin Zhang, Bi-Rong Guo, Li-Qiong Cai, Tao Jiang, Liang-Dan Sun, Yong Cui, Jing-Chu Hu, Jun Zhu, Gang Chen, Xian-Fa Tang, Guang-Qing Sun, Hua-Yang Tang, Yuan Liu, Min Li, Qi-Bin Li, Hui Cheng, Min Gao, Ping Li, Xu Yang, Xian-Bo Zuo, Xiao-Dong Zheng, Pei-Guang Wang, Jian Wang, Jun Wang, Jian-Jun Liu, Sen Yang, Ying-Rui Li, Xue-Jun Zhang
  • Cystathionine β-synthase genetic variant rs2124459 is associated with a reduced risk of cleft palate in French and Belgian populations
    Laetitia Goffinet, Abderrahim Oussalah, Rosa-Maria Guéant-Rodriguez, Céline Chery, Mirta Basha, Patrice Hodonou Avogbe, Thomas Josse, Elise Jeannesson, Pierre Rouyer, Justine Flayac, Philippe Gerard, Anne Le Touze, Béatrice Bonin-Goga, Dominique Goga, Etienne Simon, François Feillet, Miikka Vikkula, Jean-Louis Guéant
  • Meta-analysis of genome-wide association studies of HDL cholesterol response to statins
    Iris Postmus, Helen R Warren, Stella Trompet, Benoit J Arsenault, Christy L Avery, Joshua C Bis, Daniel I Chasman, Catherine E de Keyser, Harshal A Deshmukh, Daniel S Evans, QiPing Feng, Xiaohui Li, Roelof A J Smit, Albert V Smith, Fangui Sun, Kent D Taylor, Alice M Arnold, Michael R Barnes, Bryan J Barratt, John Betteridge, S Matthijs Boekholdt, Eric Boerwinkle, Brendan M Buckley, Y-D Ida Chen, Anton J M de Craen, Steven R Cummings, Joshua C Denny, Marie Pierre Dubé, Paul N Durrington, Gudny Eiriksdottir, Ian Ford, Xiuqing Guo, Tamara B Harris, Susan R Heckbert, Albert Hofman, G Kees Hovingh, John J P Kastelein, Leonore J Launer, Ching-Ti Liu, Yongmei Liu, Thomas Lumley, Paul M McKeigue, Patricia B Munroe, Andrew Neil, Deborah A Nickerson, Fredrik Nyberg, Eoin O'Brien, Christopher J O'Donnell, Wendy Post, Neil Poulter, Ramachandran S Vasan, Kenneth Rice, Stephen S Rich, Fernando Rivadeneira, Naveed Sattar, Peter Sever, Sue Shaw-Hawkins, Denis C Shields, P Eline Slagboom, Nicholas L Smith, Joshua D Smith, Nona Sotoodehnia, Alice Stanton, David J Stott, Bruno H Stricker, Til Stürmer, André G Uitterlinden, Wei-Qi Wei, Rudi G J Westendorp, Eric A Whitsel, Kerri L Wiggins, Russell A Wilke, Christie M Ballantyne, Helen M Colhoun, L Adrienne Cupples, Oscar H Franco, Vilmundur Gudnason, Graham Hitman, Colin N A Palmer, Bruce M Psaty, Paul M Ridker, Jeanette M Stafford, Charles M Stein, Jean-Claude Tardif, Mark J Caulfield, J Wouter Jukema, Jerome I Rotter, Ronald M Krauss
  • De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy
    Iris M de Lange, Katherine L Helbig, Sarah Weckhuysen, Rikke S Møller, Milen Velinov, Natalia Dolzhanskaya, Eric Marsh, Ingo Helbig, Orrin Devinsky, Sha Tang, Heather C Mefford, Candace T Myers, Wim van Paesschen, Pasquale Striano, Koen van Gassen, Marjan van Kempen, Carolien G F de Kovel, Juliette Piard, Berge A Minassian, Marjan M Nezarati, André Pessoa, Aurelia Jacquette, Bridget Maher, Simona Balestrini, Sanjay Sisodiya, Marie Therese Abi Warde, Anne De St Martin, Jamel Chelly, EuroEPINOMICS-RES MAE working group, Ruben van ‘t Slot, Lionel Van Maldergem, Eva H Brilstra, Bobby P C Koeleman

Pages