European Journal of Human Genetics - Table of Contents alert Volume 19 Issue 11

TABLE OF CONTENTS Volume 19, Issue 11 (November 2011) In this issue Letters Articles Short Reports Clinical Utility Gene Cards Also new AOP Sign up for e-alerts Recommend to your library Web feed Subscribe Advertisement Your Research, Your Way: SureSelect Custom Target Enrichment Catalog to Custom Designs for All NGS Platforms: -Flexibility to cover your regions of interest with the fastest turnaround time. -Create or modify designs online with eArray or use our design service. -Human Exome and Model Organisms: Bovine, Mouse, Zebrafish, Canine. Learn more.   Letters Top Fabry or not Fabry – a question of ascertainment Gunnar Houge, Camilla Tøndel, Øyvind Kaarbøe, Asle Hirth, Leif Bostad and Einar Svarstad Eur J Hum Genet 2011 19: 1111; advance online publication, May 18, 2011; 10.1038/ejhg.2011.87 Full Text The causality of de novo copy number variants is overestimated Joris R Vermeesch, Irina Balikova, Connie Schrander-Stumpel, Jean-Pierre Fryns and Koenraad Devriendt Eur J Hum Genet 2011 19: 1112-1113; advance online publication, May 18, 2011; 10.1038/ejhg.2011.83 Full Text Articles Top Impact of gene patents on diagnostic testing: a new patent landscaping method applied to spinocerebellar ataxia Nele Berthels, Gert Matthijs and Geertrui Van Overwalle Eur J Hum Genet 2011 19: 1114-1121; advance online publication, August 3, 2011; 10.1038/ejhg.2011.109 Abstract | Full Text Are the kids really all right? Direct-to-consumer genetic testing in children: are company policies clashing with professional norms? Heidi Carmen Howard, Denise Avard and Pascal Borry Eur J Hum Genet 2011 19: 1122-1126; advance online publication, June 1, 2011; 10.1038/ejhg.2011.94 Abstract | Full Text Opinions and intentions of parents of an autistic child toward genetic research results: two typical profiles Laurence Baret and Beatrice Godard Eur J Hum Genet 2011 19: 1127-1132; advance online publication, June 15, 2011; 10.1038/ejhg.2011.106 Abstract | Full Text Desbuquois dysplasia type I and fetal hydrops due to novel mutations in the CANT1 gene Franco Laccone, Katharina Schoner, Birgit Krabichler, Britta Kluge, Robin Schwerdtfeger, Bernt Schulze, Johannes Zschocke and Helga Rehder Eur J Hum Genet 2011 19: 1133-1137; advance online publication, June 8, 2011; 10.1038/ejhg.2011.101 Abstract | Full Text Analysis of H19 methylation in control and abnormal human embryos, sperm and oocytes Samira Ibala-Romdhane, Mohamed Al-Khtib, Rita Khoueiry, Thierry Blachère, Jean-François Guérin and Annick Lefèvre Eur J Hum Genet 2011 19: 1138-1143; advance online publication, June 8, 2011; 10.1038/ejhg.2011.99 Abstract | Full Text 17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD) Christine M Armour, Dennis E Bulman, Olga Jarinova, Richard Curtis Rogers, Kate B Clarkson, Barbara R DuPont, Alka Dwivedi, Frank O Bartel, Laura McDonell, Charles E Schwartz, Kym M Boycott, David B Everman and Gail E Graham Eur J Hum Genet 2011 19: 1144-1151; advance online publication, June 1, 2011; 10.1038/ejhg.2011.97 Abstract | Full Text Balanced into array: genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a meta-analysis Ilse Feenstra, Nicolien Hanemaaijer, Birgit Sikkema-Raddatz, Helger Yntema, Trijnie Dijkhuizen, Dorien Lugtenberg, Joke Verheij, Andrew Green, Roel Hordijk, William Reardon, Bert de Vries, Han Brunner, Ernie Bongers, Nicole de Leeuw and Conny van Ravenswaaij-Arts Eur J Hum Genet 2011 19: 1152-1160; advance online publication, June 29, 2011; 10.1038/ejhg.2011.120 Abstract | Full Text Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneity R Abou Jamra, Sigrun Wohlfart, Markus Zweier, Steffen Uebe, Lutz Priebe, Arif Ekici, Susanne Giesebrecht, Ahmad Abboud, Mohammed Ayman Al Khateeb, Mahmoud Fakher, Saber Hamdan, Amina Ismael, Safia Muhammad, Markus M Nöthen, Johannes Schumacher and André Reis Eur J Hum Genet 2011 19: 1161-1166; advance online publication, June 1, 2011; 10.1038/ejhg.2011.98 Abstract | Full Text Data-driven approach to detect common copy-number variations and frequency profiles in a population-based Korean cohort Sanghoon Moon, Young Jin Kim, Chang Bum Hong, Dong-Joon Kim, Jong-Young Lee and Bong-Jo Kim Eur J Hum Genet 2011 19: 1167-1172; advance online publication, July 6, 2011; 10.1038/ejhg.2011.103 Abstract | Full Text An atlas of tissue-specific conserved coexpression for functional annotation and disease gene prediction Rosario Michael Piro, Ugo Ala, Ivan Molineris, Elena Grassi, Chiara Bracco, Gian Paolo Perego, Paolo Provero and Ferdinando Di Cunto Eur J Hum Genet 2011 19: 1173-1180; advance online publication, June 8, 2011; 10.1038/ejhg.2011.96 Abstract | Full Text The tRNAMet 4435A>G mutation in the mitochondrial haplogroup G2a1 is responsible for maternally inherited hypertension in a Chinese pedigree Zhongqiu Lu, Hong Chen, Yanzi Meng, Yan Wang, Ling Xue, Shaoce Zhi, Qiaomeng Qiu, Li Yang, Jun Qin Mo and Min-Xin Guan Eur J Hum Genet 2011 19: 1181-1186; advance online publication, June 22, 2011; 10.1038/ejhg.2011.111 Abstract | Full Text Mortality in neurofibromatosis 1: in North West England: an assessment of actuarial survival in a region of the UK since 1989 D Gareth R Evans, Catherine O'Hara, Anna Wilding, Sarah L Ingham, Elizabeth Howard, John Dawson, Anthony Moran, Vilka Scott-Kitching, Felicity Holt and Susan M Huson Eur J Hum Genet 2011 19: 1187-1191; advance online publication, June 22, 2011; 10.1038/ejhg.2011.113 Abstract | Full Text Genetic determination of human facial morphology: links between cleft-lips and normal variation Stefan Boehringer, Fedde van der Lijn, Fan Liu, Manuel Günther, Stella Sinigerova, Stefanie Nowak, Kerstin U Ludwig, Ruth Herberz, Stefan Klein, Albert Hofman, Andre G Uitterlinden, Wiro J Niessen, Monique M B Breteler, Aad van der Lugt, Rolf P Würtz, Markus M Nöthen, Bernhard Horsthemke, Dagmar Wieczorek, Elisabeth Mangold and Manfred Kayser Eur J Hum Genet 2011 19: 1192-1197; advance online publication, June 22, 2011; 10.1038/ejhg.2011.110 Abstract | Full Text Short Reports Top Duplication at chromosome 2q31.1-q31.2 in a family presenting syndactyly and nystagmus Jamal Ghoumid, Joris Andrieux, Bernard Sablonnière, Sylvie Odent, Nathalie Philippe, Xavier Zanlonghi, Pascale Saugier-Veber, Thomas Bardyn, Sylvie Manouvrier-Hanu and Muriel Holder-Espinasse Eur J Hum Genet 2011 19: 1198-1201; advance online publication, June 8, 2011; 10.1038/ejhg.2011.95 Abstract | Full Text Fatty acid desaturase 2 promoter mutation is not responsible for Δ6-desaturase deficiency Melissa K Gregory, Susan E Lester, Rebecca J Cook-Johnson, Robert A Gibson, Susanna M Proudman, Leslie G Cleland and Michael J James Eur J Hum Genet 2011 19: 1202-1204; advance online publication, June 1, 2011; 10.1038/ejhg.2011.104 Abstract | Full Text Clinical Utility Gene Cards Top Clinical utility gene card for: Dyskeratosis congenita Inderjeet Dokal, Tom Vulliamy, Philip Mason and Monica Bessler Eur J Hum Genet 2011 19: ; advance online publication, May 25, 2011; 10.1038/ejhg.2011.90 Full Text Clinical utility gene card for: Aarskog–Scott syndrome (faciogenital dysplasia) Alfredo Orrico, Lucia Galli, Jill Clayton-Smith and Jean-Pierre Fryns Eur J Hum Genet 2011 19: ; advance online publication, June 8, 2011; 10.1038/ejhg.2011.108 Full Text Clinical utility gene card for: Haemophilia A Steve Keeney, Tony Cumming, P Vincent Jenkins, James S O'Donnell and Michael J Nash Eur J Hum Genet 2011 19: ; advance online publication, June 8, 2011; 10.1038/ejhg.2011.107 Full Text Advertisement EuroGentest, the EU-funded Network of Excellence for genetic testing, has developed disease-specific points to consider regarding clinical indications for genetic testing - the Clinical Utility Gene Cards (CUGCs). These documents, providing clinicians and clinical geneticists with guidance on genetic testing for specific conditions in real settings of clinical genetic services, are available on the European Journal of Human Genetics website.   Natureevents is a fully searchable, multi-disciplinary database designed to maximise exposure for events organisers. The contents of the Natureevents Directory are now live. The digital version is available here. Find the latest scientific conferences, courses, meetings and symposia on natureevents.com. For event advertising opportunities across the Nature Publishing Group portfolio please contact natureevents@nature.com More Nature Events Please note that you need to be a subscriber or site-licence holder to enjoy full-text access to European Journal of Human Genetics. In order to do so, please purchase a subscription. You have been sent this Table of Contents Alert because you have opted in to receive it. 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